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
LIM2	3982	broad.mit.edu	37	19	51885677	51885677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51885677G>A	uc002pwl.2	-	2	490	c.446C>T	c.(445-447)tCc>tTc	p.S149F	LIM2_uc002pwm.2_Missense_Mutation_p.S107F	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACAT	0.567000														46			44		0	0	0.000781405	0	0
INPP5A	3632	broad.mit.edu	37	10	134463968	134463968	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134463968G>T	uc001llp.3	+	3	513	c.265G>T	c.(265-267)Gtc>Ttc	p.V89F	INPP5A_uc001llo.1_Missense_Mutation_p.V89F|INPP5A_uc001llq.3_Missense_Mutation_p.V41F	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	89					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CAGGGCTCGAGTCTACCTGGA	0.532000														186			56		1.72039e-30	6.31472e-30	0.000781405	1	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629941	32629941	+	Missense_Mutation	SNP	T	G	G	rs9274001		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32629941T>G	uc021yvz.1	-	2	546	c.464A>C	c.(463-465)tAt>tCt	p.Y155S	HLA-DQB1_uc010juc.2_Missense_Mutation_p.Y110S|HLA-DQB1_uc003obw.3_Missense_Mutation_p.Y155S|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.Y155S|HLA-DQB1_uc011dqe.2_3'UTR	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	155	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGCCTGGATAGAAATCTGT	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					26			19		0	0	0.000958276	0	0
USP21	27005	broad.mit.edu	37	1	161130441	161130441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161130441C>T	uc010pkc.2	+	2	388	c.11C>T	c.(10-12)gCc>gTc	p.A4V	USP21_uc010pkd.2_Missense_Mutation_p.A4V	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	4					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGCCCCAGGCCTCTGAGCAC	0.602000														76			20		0	0	0.00188189	0	0
WDR72	256764	broad.mit.edu	37	15	53908078	53908078	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:53908078G>A	uc002acj.2	-	14	2367	c.2325C>T	c.(2323-2325)tcC>tcT	p.S775S	WDR72_uc010bfi.1_Silent_p.S775S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	775										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCATTTTTTTGGAGATCTTCA	0.403000														36			14		0	0	0.000566183	0	0
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:97053872C>T	uc003pos.2	+	4	845	c.429C>T	c.(427-429)atC>atT	p.I143I	FHL5_uc003pot.2_Silent_p.I143I	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143I(2)|p.I143N(1)		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)		AGCCTTTGATCTCCAAAGAGA	0.413000														18			15		0	0	0.000308642	0	0
SYN3	8224	broad.mit.edu	37	22	33260955	33260955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:33260955G>A	uc003amx.3	-	4	820	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SYN3_uc003amy.3_Missense_Mutation_p.P220S|SYN3_uc003amz.3_Missense_Mutation_p.P219S	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	220	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AACTTCTCAGGACCCAGGGAA	0.433000														279			45		0	0	0.000781405	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:49974850G>A	uc010rhz.2	+	0	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	292					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						ATGCTCAAATGAAAAATGCCA	0.383000														16			6		0	0	0.00116845	0	0
TMC3	342125	broad.mit.edu	37	15	81636269	81636269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:81636269C>T	uc021ssk.1	-	13	1636	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	TMC3_uc021ssj.1_Missense_Mutation_p.E546K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E546K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	546						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AACTTGCTCTCCAGATCCCAA	0.453000														9			17		0	0	0.00121646	0	0
FAM83A	84985	broad.mit.edu	37	8	124219445	124219445	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:124219445C>T	uc003ypv.3	+	4	2836	c.822C>T	c.(820-822)ttC>ttT	p.F274F	FAM83A_uc003ypw.3_Silent_p.F274F|FAM83A_uc003ypx.3_Silent_p.F274F|FAM83A_uc003ypy.3_Silent_p.F218F|FAM83A_uc003ypz.3_Silent_p.F274F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	274										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)			TCTCCAAGTTCACAGGCCAGG	0.637000														38			8		0	0	0.000274275	0	0
FBN2	2201	broad.mit.edu	37	5	127681079	127681079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:127681079C>T	uc003kuu.3	-	23	3626	c.3187G>A	c.(3187-3189)Gat>Aat	p.D1063N	FBN2_uc003kuv.2_Missense_Mutation_p.D1030N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1063					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)		GTAAGAACATCCCCTCGGTTA	0.597000														71			31		0	0	0.00283554	0	0
TACR3	6870	broad.mit.edu	37	4	104640632	104640632	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:104640632G>A	uc003hxe.1	-	0	342	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	67						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)		AGGGCTGGGAGGGCGCGGGGG	0.672000														36			22		0	0	0.00229938	0	0
ARAP1	116985	broad.mit.edu	37	11	72404832	72404832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:72404832G>A	uc001osu.3	-	27	3902	c.3713C>T	c.(3712-3714)gCg>gTg	p.A1238V	ARAP1_uc001osv.3_Missense_Mutation_p.A1238V|ARAP1_uc001osr.3_Missense_Mutation_p.A998V|ARAP1_uc001oss.3_Missense_Mutation_p.A993V|ARAP1_uc009yth.3_Missense_Mutation_p.A932V|ARAP1_uc010rre.2_Missense_Mutation_p.A993V	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1238	Ras-associating.				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						CACCTTCTCCGCAAAGTGCAG	0.627000														17			17		0	0	0.00152264	0	0
NEFL	4747	broad.mit.edu	37	8	24813201	24813201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:24813201C>T	uc003xee.3	-	0	931	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	277	Linker 2.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCATTCCTCAGCGTTCTGC	0.652000														19			17		0	0	0.000566183	0	0
NMUR2	56923	broad.mit.edu	37	5	151784643	151784643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:151784643G>A	uc003luv.2	-	0	198	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	11					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)			GTAGATCCAGGAAGCATTCTG	0.498000														86			25		0	0	0.00106085	0	0
ABCC6	368	broad.mit.edu	37	16	16315560	16315560	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:16315560G>A	uc002den.4	-	1	202	c.165C>T	c.(163-165)atC>atT	p.I55I	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.I55I|ABCC6_uc002deo.4_Silent_p.I55I	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	55					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)		CATGGTGGTGGATGAAGAGGA	0.617000														22			8		0	0	0.000978159	0	0
PDE4B	5142	broad.mit.edu	37	1	66833690	66833690	+	Missense_Mutation	SNP	C	T	T	rs151031090		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:66833690C>T	uc001dcn.3	+	14	1795	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	PDE4B_uc009war.3_Missense_Mutation_p.T443M|PDE4B_uc001dco.3_Missense_Mutation_p.T535M|PDE4B_uc001dcp.3_Missense_Mutation_p.T520M|PDE4B_uc001dcq.3_Missense_Mutation_p.T363M|PDE4B_uc009was.3_Missense_Mutation_p.T302M	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	535					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATGGTAGAAACGAAGAAAGTT	0.368000														30			9		0	0	0.000274275	0	0
RSPH10B	222967	broad.mit.edu	37	7	5998705	5998705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:5998705G>A	uc003sph.1	-	6	849	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RSPH10B_uc003spg.1_Missense_Mutation_p.S40F|RSPH10B_uc010ktd.1_Missense_Mutation_p.S193F|RSPH10B_uc011jwk.2_Intron|RSPH10B_uc021zze.1_5'Flank	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	193										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTAATAAATGGAGCCCTGAAA	0.403000														58			22		0	0	0.000878237	0	0
DAXX	1616	broad.mit.edu	37	6	33289089	33289089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:33289089G>A	uc003oec.3	-	2	667	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	DAXX_uc021ywn.1_Missense_Mutation_p.P155S|DAXX_uc021ywo.1_Missense_Mutation_p.P155S|DAXX_uc011dre.2_Missense_Mutation_p.P167S|DAXX_uc003oed.3_Missense_Mutation_p.P155S|DAXX_uc011drd.2_Missense_Mutation_p.P80S|DAXX_uc010juw.2_Missense_Mutation_p.P80S	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	155	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCCCAGAGGGCTCATTGGAG	0.557000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									37			25		0	0	0.000720815	0	0
ITGAD	3681	broad.mit.edu	37	16	31429642	31429642	+	Silent	SNP	C	T	T	rs139262186		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31429642C>T	uc010cap.1	+	21	2689	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	ITGAD_uc002ebv.1_Silent_p.F879F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	879					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						TAGTCACATTCGATGTCTCCT	0.562000														51			18		0	0	0.00278032	0	0
LRTM1	57408	broad.mit.edu	37	3	54958920	54958920	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:54958920G>A	uc003dhl.3	-	1	464	c.330C>T	c.(328-330)ctC>ctT	p.L110L	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.	110						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)		CCAGGGAAAGGAGTGAATTCT	0.468000														13			39		0	0	0.00148497	0	0
IQCH	64799	broad.mit.edu	37	15	67571772	67571772	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:67571772C>T	uc002aqo.2	+	3	406	c.309C>T	c.(307-309)ttC>ttT	p.F103F	IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron|IQCH_uc002aqm.3_Silent_p.F103F	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	103										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATTTATTTTCCCTCAGGAAT	0.343000														12			30		0	0	0.000814825	0	0
C1orf173	127254	broad.mit.edu	37	1	75037352	75037352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75037352C>T	uc001dgg.3	-	13	4261	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1348	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						TCTGCCGTTTCACCACCTCCG	0.532000														72			59		0	0	0.000781405	0	0
TMEM156	80008	broad.mit.edu	37	4	38995404	38995404	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:38995404C>T	uc003gto.3	-	2	681	c.573G>A	c.(571-573)ccG>ccA	p.P191P	TMEM156_uc010ifj.3_Silent_p.P191P	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	191						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TACAATCATTCGGGTATTCCA	0.353000														64			32		0	0	0.00178596	0	0
IFNA21	3452	broad.mit.edu	37	9	21166166	21166166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:21166166C>T	uc003zom.2	-	0	494	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	149					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			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.448000														8			47		0	0	0.000781405	0	0
ZNF99	7652	broad.mit.edu	37	19	22940868	22940868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:22940868G>A	uc021urt.1	-	3	1998	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y		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)				TTTCCAGTATGAATTATCTGA	0.383000														16			9		0	0	0.000673444	0	0
OBSCN	84033	broad.mit.edu	37	1	228402506	228402506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228402506C>T	uc009xez.1	+	4	1579	c.1535C>T	c.(1534-1536)cCc>cTc	p.P512L	OBSCN_uc001hsn.3_Missense_Mutation_p.P512L|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	512	Fibronectin type-III 1.				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)				AGGAAGCCTCCCCTGCAACCC	0.612000														20			4		0	0	0.000602214	0	0
RUFY3	22902	broad.mit.edu	37	4	71630223	71630223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:71630223C>T	uc003hfr.3	+	3	1097	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RUFY3_uc003hfp.4_Missense_Mutation_p.R228C|RUFY3_uc003hfq.3_Missense_Mutation_p.R168C|RUFY3_uc011cax.2_Missense_Mutation_p.R186C|RUFY3_uc011cay.2_Missense_Mutation_p.R104C	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	168	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGCCTGGCTTCGTTTGGCATT	0.368000														70			27		0	0	0.00178596	0	0
MUC16	94025	broad.mit.edu	37	19	9072482	9072482	+	Silent	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9072482A>T	uc002mkp.3	-	2	15168	c.14964T>A	c.(14962-14964)acT>acA	p.T4988T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4990	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						CCATGGTAAAAGTATCCTGTG	0.468000														40			23		0	0	0.000720815	0	0
KIAA1324	57535	broad.mit.edu	37	1	109704588	109704589	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:109704588_109704589CC>AA	uc021orb.1	+	1	447_448	c.226_227CC>AA	c.(226-228)ccg>AAg	p.P76K	KIAA1324_uc009wex.2_Missense_Mutation_p.P76K|KIAA1324_uc010ovg.2_Intron|KIAA1324_uc009wey.3_Missense_Mutation_p.P76K	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	76					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCGCATACCCCGGGCCTGTGC	0.619000														510			13		0	0	6.4e-05	0	0
TELO2	9894	broad.mit.edu	37	16	1550438	1550438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1550438C>T	uc002cly.3	+	7	1384	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	TELO2_uc010uvg.1_Missense_Mutation_p.L365F	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	365						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)				CAAGGCTGTCCTCATCTGCCT	0.701000														16			5		0	0	0.00198382	0	0
ITGB2	3689	broad.mit.edu	37	21	46313378	46313378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:46313378C>T	uc002zgd.2	-	8	1209	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	ITGB2_uc002zgf.3_Missense_Mutation_p.G389R|ITGB2_uc011afl.1_Missense_Mutation_p.G311R|ITGB2_uc010gpw.2_Missense_Mutation_p.G332R|ITGB2_uc002zgg.2_Missense_Mutation_p.G389R	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.	389					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			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)	TGCGTCACTCCATTGCTGCAG	0.602000											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			34		0	0	0.000814825	0	0
LIPG	9388	broad.mit.edu	37	18	47101752	47101752	+	Silent	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47101752C>G	uc002ldv.3	+	4	837	c.585C>G	c.(583-585)gcC>gcG	p.A195A	LIPG_uc002ldu.1_Silent_p.A195A|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	195					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGATCCTGCCGGGCCCATGT	0.552000														57			11		0	0	0.000978159	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846459	43846459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43846459C>T	uc010skx.2	-	12	1800	c.1800G>A	c.(1798-1800)atG>atA	p.M600I		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	600	TSP type-1 1.					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)		ATCGAAATTTCATCCTGCGGC	0.388000														5			11		0	0	0.000978159	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813867	106813867	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:106813867G>A	uc003ymd.3	+	7	1580	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	ZFPM2_uc011lhs.2_Silent_p.K250K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	519					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)			TCTTAGCTAAGATGTCTGAAC	0.498000														72			19		0	0	0.000958276	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307626	95307626	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:95307626A>C	uc001dqv.4	+	7	938	c.831A>C	c.(829-831)gaA>gaC	p.E277D	SLC44A3_uc001dqx.4_Missense_Mutation_p.E277D|SLC44A3_uc010otq.2_Missense_Mutation_p.E209D|SLC44A3_uc010otr.2_Missense_Mutation_p.E241D|SLC44A3_uc001dqw.4_Missense_Mutation_p.E229D|SLC44A3_uc010ots.2_Missense_Mutation_p.E197D|SLC44A3_uc009wds.3_Missense_Mutation_p.E180D|SLC44A3_uc010ott.2_Missense_Mutation_p.E197D|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	277						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGGACACAGAAAGGGAAAATA	0.468000														252			45		0	0	0.00285205	0	0
FAM3D	131177	broad.mit.edu	37	3	58629399	58629399	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:58629399G>A	uc003dkq.3	-	5	609	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	104					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATTCACCAGGGCGATGTTTA	0.498000														95			20		0	0	0.000586117	0	0
TAAR1	134864	broad.mit.edu	37	6	132966171	132966171	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:132966171G>A	uc003qdm.1	-	0	972	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	324						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATCTTTTTGGAAAATTTTAC	0.299000														9			6		0	0	0.00198382	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64666919	64666919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:64666919G>A	uc003dmg.3	-	2	669	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.Q213*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.Q42*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.Q213*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	213					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)		GGCTCTCTCTGGGGGGCGCTG	0.458000														424			109		0	0	0.000781405	0	0
SVEP1	79987	broad.mit.edu	37	9	113169812	113169812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:113169812C>T	uc010mtz.3	-	37	8405	c.8068G>A	c.(8068-8070)Gaa>Aaa	p.E2690K	SVEP1_uc010mty.3_Missense_Mutation_p.E616K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2690	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGAAGTTCATATCCTGGA	0.453000														160			49		0	0	0.000781405	0	0
FOLH1	2346	broad.mit.edu	37	11	49175808	49175808	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:49175808C>T	uc001ngy.3	-	15	2121	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	FOLH1_uc001ngx.3_Silent_p.Q52Q|FOLH1_uc009yly.3_Silent_p.Q605Q|FOLH1_uc009ylz.3_Silent_p.Q605Q|FOLH1_uc001ngz.3_Silent_p.Q620Q|FOLH1_uc009yma.3_Silent_p.Q312Q	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	620					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCTTCATTTCCTGTGGATGTT	0.343000														30			18		0	0	0.00121646	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966376	23966376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23966376C>T	uc002wts.3	-	4	592	c.459G>A	c.(457-459)tgG>tgA	p.W153*	GGTLC1_uc002wtu.3_Nonsense_Mutation_p.W153*	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	153							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCTCCACGGCCCACTTCACGT	0.612000														73			29		0	0	0.00283554	0	0
CABP2	51475	broad.mit.edu	37	11	67287409	67287409	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:67287409G>A	uc001ome.1	-	5	598	c.510C>T	c.(508-510)ttC>ttT	p.F170F	CABP2_uc001omc.1_Silent_p.F164F			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	164	EF-hand 3.				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						CATTGGTGTCGAACTGTGGCG	0.697000														12			7		0	0	0.000157383	0	0
FMO2	2327	broad.mit.edu	37	1	171168578	171168578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171168578G>A	uc001ghk.1	+	4	695	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	193					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAACTCAGGC	0.493000														100			14		0	0	0.000958276	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990818	39990818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:39990818C>T	uc002xjy.1	-	3	1615	c.1391G>A	c.(1390-1392)gGc>gAc	p.G464D		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	464						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCAAAGCCGCCCACTCCCCA	0.647000														95			20		0	0	0.00229938	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493450	60493450	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:60493450G>A	uc010wpc.2	+	11	1304	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	EFCAB3_uc002izu.2_Silent_p.G359G	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	359							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGATCCGAGGGGATTTGATTG	0.423000														101			29		0	0	0.00106085	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865845	144865845	+	Missense_Mutation	SNP	C	T	T	rs148146447		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:144865845C>T	uc021ouh.1	-	34	6037	c.5735G>A	c.(5734-5736)cGa>cAa	p.R1912Q	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.R1912Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1806Q|PDE4DIP_uc001elv.4_Missense_Mutation_p.R919Q|PDE4DIP_uc001ema.3_Missense_Mutation_p.R99Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1912					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)		CTGAAGTCTTCGATTGTCTTC	0.478000			T	PDGFRB	MPD									589			108		0	0	0.000781405	0	0
TCR-alpha	0	broad.mit.edu	37	14	22574118	22574118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22574118C>T	uc001wdb.2	+	1	375	c.338C>T	c.(337-339)gCc>gTc	p.A113V	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		TACCTCTGTGCCTTTACACAG	0.473000														6			11		0	0	0.00136819	0	0
CECR2	27443	broad.mit.edu	37	22	18021603	18021603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:18021603C>T	uc010gqw.1	+	13	1888	c.1888C>T	c.(1888-1890)Ccg>Tcg	p.P630S	CECR2_uc010gqv.1_Missense_Mutation_p.P491S|CECR2_uc002zml.2_Missense_Mutation_p.P491S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	674					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)		CTCTGGAGTCCCGGAGCCACA	0.597000														93			8		0	0	0.000157383	0	0
HERC5	51191	broad.mit.edu	37	4	89390312	89390312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89390312C>T	uc003hrt.3	+	8	1292	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	HERC5_uc011cdm.2_Missense_Mutation_p.S18L	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	380					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTACAGAATTCATATGTTAAT	0.373000														11			14		0	0	0.000308642	0	0
RNF150	57484	broad.mit.edu	37	4	142053480	142053480	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:142053480C>T	uc003iio.1	-	1	1138	c.484_splice	c.e1+1	p.G162_splice	RNF150_uc010iok.1_Splice_Site_p.G162_splice|RNF150_uc003iip.1_Splice_Site_p.G162_splice	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	162	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCCACTCACCCGCGTGGGGCA	0.667000														4			3		0	0	6.4e-05	0	0
LHCGR	3973	broad.mit.edu	37	2	48952827	48952827	+	Missense_Mutation	SNP	C	T	T	rs140788691	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48952827C>T	uc002rwu.4	-	3	441	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	124				R -> G (in Ref. 1; AAA59515 and 4; CAA59234).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTATTTTAATCGGGGAAGATT	0.368000														61			69		0	0	0.000781405	0	0
BAX	581	broad.mit.edu	37	19	49459483	49459484	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49459483_49459484CC>TT	uc002plk.3	+	3	331_332	c.262_263CC>TT	c.(262-264)ccc>TTc	p.P88F	BAX_uc002plf.1_Missense_Mutation_p.P88F|BAX_uc002plg.1_Missense_Mutation_p.P51F|BAX_uc002plh.1_Missense_Mutation_p.P10F|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Missense_Mutation_p.P88F|BAX_uc002pll.3_Missense_Mutation_p.P39F|BAX_uc002plm.3_Missense_Mutation_p.P10F	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	88					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CACAGACTCCCCCCGAGAGGTC	0.579000														95			22		0	0	6.4e-05	0	0
KPNA2	3838	broad.mit.edu	37	17	66039435	66039435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:66039435C>T	uc002jgk.3	+	6	1018	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	KPNA2_uc002jgl.3_Missense_Mutation_p.P296S	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	296					DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGAGTTGTGCCCCAACTTGT	0.423000														437			88		0	0	0.000781405	0	0
PTPN23	25930	broad.mit.edu	37	3	47453658	47453658	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:47453658C>G	uc003crf.1	+	21	4244	c.4148C>G	c.(4147-4149)cCg>cGg	p.P1383R	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.P1253R|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1383	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCAGCGGCCGCTGCACACG	0.627000														59			20		0	0	0.00152264	0	0
CXCR7	57007	broad.mit.edu	37	2	237489786	237489786	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:237489786C>T	uc021vys.1	+	0	678	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CXCR7_uc010fyq.3_Silent_p.S226S|CXCR7_uc002vwd.3_Silent_p.S226S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	226					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)		TTCCCTTCTCCATTATCGCTG	0.577000														85			29		0	0	0.00127121	0	0
TLN1	7094	broad.mit.edu	37	9	35719223	35719223	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35719223A>G	uc003zxt.2	-	15	2098	c.1744T>C	c.(1744-1746)Tcc>Ccc	p.S582P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	582					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCAGGTTGGAGGAGATTGTG	0.607000														11			18		0	0	0.00152264	0	0
C4orf22	255119	broad.mit.edu	37	4	81866028	81866028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:81866028G>A	uc010ijp.3	+	5	641	c.592G>A	c.(592-594)Gat>Aat	p.D198N	C4orf22_uc003hmf.3_Missense_Mutation_p.D181N	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	181								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGTGATTGCCGATAATCCAGA	0.323000														21			25		0	0	0.000878237	0	0
CATSPERG	57828	broad.mit.edu	37	19	38845361	38845361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38845361C>T	uc002oih.4	+	8	1096	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	CATSPERG_uc002oig.4_Missense_Mutation_p.R337C|CATSPERG_uc002oif.4_5'UTR|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	337					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.Y336H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTTGGATTCGTGTCCTGGC	0.567000														87			26		0	0	0.000720815	0	0
TFPI	7035	broad.mit.edu	37	2	188332640	188332640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:188332640C>T	uc002upy.3	-	6	943	c.648G>A	c.(646-648)tgG>tgA	p.W216*		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	216					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GAGTGAGACACCATGAGGGAC	0.393000														29			10		0	0	0.000442599	0	0
STAB2	55576	broad.mit.edu	37	12	103984744	103984744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:103984744G>A	uc001tjw.3	+	1	337	c.151G>A	c.(151-153)Gga>Aga	p.G51R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	51					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						TCTCAACCTTGGAGTCAAGTG	0.423000														24			36		0	0	0.00128727	0	0
COL4A5	1287	broad.mit.edu	37	X	107938566	107938566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:107938566C>T	uc022ccg.1	+	51	5093	c.4891C>T	c.(4891-4893)Cgt>Tgt	p.R1631C	COL4A5_uc004enz.1_Missense_Mutation_p.R1625C	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1625	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.E1631K(1)		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						GGAAGAGTTTCGTTCAGCTCC	0.493000									Alport syndrome with Diffuse Leiomyomatosis					33			23		0	0	0.00127121	0	0
COBL	23242	broad.mit.edu	37	7	51095722	51095722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:51095722G>A	uc003tps.3	-	10	3427	c.3242C>T	c.(3241-3243)cCa>cTa	p.P1081L	COBL_uc003tpr.4_Missense_Mutation_p.P1024L|COBL_uc011kcl.2_Missense_Mutation_p.P1024L|COBL_uc003tpp.4_Missense_Mutation_p.P810L|COBL_uc003tpq.4_Missense_Mutation_p.P965L|COBL_uc003tpo.4_Missense_Mutation_p.P566L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1024										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGATGTGTGTGGAGGGGGTGG	0.632000														39			21		0	0	0.00229938	0	0
ADK	132	broad.mit.edu	37	10	76154057	76154057	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:76154057C>T	uc001jwi.3	+	4	526	c.432C>T	c.(430-432)atC>atT	p.I144I	ADK_uc010qlb.2_Silent_p.I144I|ADK_uc001jwj.3_Silent_p.I127I|ADK_uc010qlc.2_Silent_p.I109I	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	144					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)	CTGCATGCATCACTGGTGACA	0.413000														36			22		0	0	0.00047179	0	0
IL17C	27189	broad.mit.edu	37	16	88705457	88705457	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:88705457G>A	uc002fla.3	+	1	124	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	25			R -> G (in dbSNP:rs11465492).		cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTCCCTCAGGGGGCACCCCC	0.672000														55			38		0	0	0.0025221	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545426	234545426	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:234545426G>A	uc002vur.3	+	0	304	c.258G>A	c.(256-258)caG>caA	p.Q86Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.Q86Q	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	88					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)	TGGAAGATCAGAACCGGGAAT	0.428000														91			25		0	0	0.00127121	0	0
LRFN2	57497	broad.mit.edu	37	6	40399472	40399472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:40399472C>T	uc003oph.1	-	1	1846	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	461	Fibronectin type-III.					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)					AGTACCTCATCGTCAGAGCAG	0.592000														7			17		0	0	0.000958276	0	0
MIR520G	574484	broad.mit.edu	37	19	54225474	54225474	+	RNA	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54225474A>C	uc021vaj.1	+	0		c.55A>C								Homo sapiens microRNA 520g (MIR520G), microRNA.																		CTGAGAAAAAACAAAGTGCTT	0.408000														51			18		0	0	0.000958276	0	0
ARSF	416	broad.mit.edu	37	X	3030406	3030406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:3030406G>A	uc022brz.1	+	10	1718	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	ARSF_uc004cre.2_Missense_Mutation_p.D528N|ARSF_uc004crf.2_Missense_Mutation_p.D528N	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	528						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCCTCCATGATTTTGTGAT	0.557000														1			44		0	0	0.00285205	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479245	14479245	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:14479245C>T	uc010xai.2	-	2		c.319G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		CACAGGAGCACGAAGCGCAGC	0.612000														8			9		0	0	0.000673444	0	0
VAMP4	8674	broad.mit.edu	37	1	171679929	171679929	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171679929T>A	uc001ghx.2	-	4	569	c.190A>T	c.(190-192)Att>Ttt	p.I64F	VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Missense_Mutation_p.I63F|VAMP4_uc001ghv.2_5'Flank	NM_003762	NP_003753	O75379	VAMP4_HUMAN	Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA.	64	v-SNARE coiled-coil homology.				vesicle-mediated transport	Golgi membrane|endosome|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATGACATCAATAACTTCATCC	0.308000														71			19		0	0	0.000958276	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170308	207170308	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207170308C>A	uc002vbp.2	+	4	1306	c.1056C>A	c.(1054-1056)gcC>gcA	p.A352A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	352							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						ACAAGACAGCCTTTTGGGAAC	0.383000														57			10		2.80697e-09	1.02365e-08	0.000978159	1	0
RPL28	6158	broad.mit.edu	37	19	55899332	55899332	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55899332C>T	uc010yga.2	+	3	282	c.240C>T	c.(238-240)acC>acT	p.T80T	RPL28_uc002qkv.3_Silent_p.T80T|RPL28_uc010ygb.2_Silent_p.T80T	NM_001136135	NP_001129607	P46779	RL28_HUMAN	Homo sapiens ribosomal protein L28 (RPL28), transcript variant 3, mRNA.	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	p.R79L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ATGTGCGGACCACCATCAACA	0.612000														68			81		0	0	0.000781405	0	0
CXorf22	170063	broad.mit.edu	37	X	35985768	35985768	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:35985768A>C	uc004ddj.3	+	9	1699	c.1633A>C	c.(1633-1635)Aag>Cag	p.K545Q	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	545								p.K545M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCCCACGGGAAAGTTTGTGGT	0.363000														0			15		0	0	0.000422831	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	T	T	rs150165907		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:140122557C>T	uc003etn.3	+	2	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CLSTN2_uc003etm.2_Missense_Mutation_p.R107C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	107	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.R107H(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						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)				104			47		0	0	0.000781405	0	0
ZNF79	7633	broad.mit.edu	37	9	130207219	130207219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:130207219G>A	uc004bqw.4	+	4	1654	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ZNF79_uc011maf.2_Missense_Mutation_p.E390K|ZNF79_uc011mag.2_Missense_Mutation_p.E390K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G413W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCACACCGGGGAGAAGCCATA	0.483000														51			43		0	0	0.00170553	0	0
DNAH10	196385	broad.mit.edu	37	12	124333331	124333331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124333331G>A	uc001uft.4	+	32	5675	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1884	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGCTGCTTTGATGAGTTTAA	0.498000														21			9		0	0	0.000274275	0	0
CCKAR	886	broad.mit.edu	37	4	26483788	26483788	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26483788C>T	uc003gse.1	-	4	912	c.759G>A	c.(757-759)agG>agA	p.R253R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	253					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)	TGCTAGGTTTCCTTTCTGGGT	0.582000														36			17		0	0	0.00074312	0	0
ABCC4	10257	broad.mit.edu	37	13	95673920	95673920	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:95673920T>C	uc001vmd.4	-	30	4006	c.3887A>G	c.(3886-3888)aAt>aGt	p.N1296S	ABCC4_uc010afj.3_Missense_Mutation_p.N87S|ABCC4_uc010afk.3_Missense_Mutation_p.N1249S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1296					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATGTGGATAATTTCTTTTGAA	0.368000														39			12		0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152282040	152282040	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152282040C>T	uc001ezu.1	-	2	5358	c.5322G>A	c.(5320-5322)caG>caA	p.Q1774Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1774	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)			CGGACTCAGACTGTTCATGAG	0.612000									Ichthyosis					254			43		0	0	0.00222228	0	0
MUC16	94025	broad.mit.edu	37	19	9077737	9077737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9077737G>A	uc002mkp.3	-	2	9913	c.9709C>T	c.(9709-9711)Ccc>Tcc	p.P3237S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3238	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						GTCTCCATGGGAACAGTTGTT	0.527000														115			38		0	0	0.00170553	0	0
IGF2R	3482	broad.mit.edu	37	6	160494835	160494835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:160494835C>T	uc003qta.3	+	34	5142	c.4994C>T	c.(4993-4995)cCc>cTc	p.P1665L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1665					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GACTTGTCTCCCCTTATTCAT	0.418000														24			17		0	0	0.00188189	0	0
COL15A1	1306	broad.mit.edu	37	9	101748019	101748019	+	Silent	SNP	C	T	T	rs141708640		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101748019C>T	uc004azb.1	+	2	479	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	91	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				TCAGGGACTTCGCCATCAGCG	0.622000														36			15		0	0	0.000566183	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120345286	120345286	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120345286A>C	uc001pxl.2	+	31	3386	c.3051A>C	c.(3049-3051)aaA>aaC	p.K1017N	ARHGEF12_uc009zat.3_Missense_Mutation_p.K998N|ARHGEF12_uc010rzn.1_Missense_Mutation_p.K914N|ARHGEF12_uc009zau.1_Missense_Mutation_p.K914N	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1017					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTAACAAAAAGGAAGATGA	0.323000			T	MLL	AML									39			39		0	0	0.000781405	0	0
MMP19	4327	broad.mit.edu	37	12	56233442	56233443	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56233442_56233443GG>AA	uc001sib.3	-	4	724_725	c.603_604CC>TT	c.(601-606)taccgt>taTTgt	p.R202C	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	202					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCACCCCACGGTAGGTCCCCT	0.609000														16			4		0	0	6.4e-05	0	0
ABCA6	23460	broad.mit.edu	37	17	67103946	67103946	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:67103946G>A	uc002jhw.1	-	17	2455	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	760					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)					CCAGATCACTGAAAAGATCTA	0.318000														21			8		0	0	0.000157383	0	0
CACNA1E	777	broad.mit.edu	37	1	181702848	181702848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181702848C>T	uc009wxt.3	+	20	3419	c.3224C>T	c.(3223-3225)cCc>cTc	p.P1075L	CACNA1E_uc001gow.3_Missense_Mutation_p.P1075L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1056L|CACNA1E_uc001gox.1_Missense_Mutation_p.P301L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1075					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						GTCGCCATCCCCGACGTGGAC	0.652000														43			8		0	0	0.000274275	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555069	76555069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:76555069G>A	uc002fex.1	+	14	2546	c.2407G>A	c.(2407-2409)Gag>Aag	p.E803K	CNTNAP4_uc002feu.1_Missense_Mutation_p.E799K|CNTNAP4_uc002fev.1_Missense_Mutation_p.E664K|CNTNAP4_uc010chb.1_Missense_Mutation_p.E727K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	800	Laminin G-like 3.				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						CTTTGATACCGAGGCTTCATA	0.323000														93			43		0	0	0.000781405	0	0
CASKIN2	57513	broad.mit.edu	37	17	73503700	73503700	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:73503700T>A	uc002joc.3	-	3	759	c.209A>T	c.(208-210)gAg>gTg	p.E70V	CASKIN2_uc010wsc.2_5'UTR|CASKIN2_uc002jod.3_Missense_Mutation_p.E70V	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	70						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTGAGCCTCTAGCAGCAA	0.622000														13			41		0	0	0.000781405	0	0
COL11A1	1301	broad.mit.edu	37	1	103427757	103427757	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:103427757C>A	uc001dum.3	-	39	3443	c.3125G>T	c.(3124-3126)gGg>gTg	p.G1042V	COL11A1_uc001duk.3_Missense_Mutation_p.G226V|COL11A1_uc001dul.3_Missense_Mutation_p.G1030V|COL11A1_uc001dun.3_Missense_Mutation_p.G991V|COL11A1_uc009weh.3_Missense_Mutation_p.G914V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1030	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.G1042R(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)		ACCTCTTTCCCCTGGGAAACC	0.383000														124			72		4.81439e-37	1.76777e-36	0.000781405	1	0
CAMK1D	57118	broad.mit.edu	37	10	12870807	12870807	+	Missense_Mutation	SNP	C	T	T	rs148446769		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:12870807C>T	uc001ilo.3	+	10	1314	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	360	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S360L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATTTCTTCTTCGTCGGGGGTC	0.592000														112			83		0	0	0.000781405	0	0
LPPR1	54886	broad.mit.edu	37	9	104032222	104032222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104032222C>T	uc004bbb.3	+	2	523	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	LPPR1_uc011lvi.2_Nonsense_Mutation_p.Q18*|LPPR1_uc004bbc.3_Nonsense_Mutation_p.Q42*|LPPR1_uc010mtc.3_Nonsense_Mutation_p.Q26*	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	42						integral to membrane	catalytic activity										TGACACTTTTCAGGTGCATAT	0.493000														75			20		0	0	0.00188189	0	0
KLHL26	55295	broad.mit.edu	37	19	18775173	18775173	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:18775173C>T	uc002njz.1	+	1	213	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	62										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGGCCAGCTCCTCGATGTTG	0.637000														139			54		0	0	0.000781405	0	0
NOL4	8715	broad.mit.edu	37	18	31538286	31538286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:31538286C>T	uc010dmi.3	-	6	1451	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	NOL4_uc010xbs.2_Missense_Mutation_p.E100K|NOL4_uc002kxr.4_Missense_Mutation_p.E221K|NOL4_uc010xbt.2_Missense_Mutation_p.E311K|NOL4_uc010dmh.3_Missense_Mutation_p.E311K|NOL4_uc010xbu.2_Missense_Mutation_p.E385K|NOL4_uc002kxt.4_Missense_Mutation_p.E385K|NOL4_uc010xbv.1_Missense_Mutation_p.E134K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	385						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGTCATCTTCGTCCTCATCT	0.502000														104			62		0	0	0.000781405	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558118	170558118	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170558118C>A	uc021vsh.1	+	3	955	c.637C>A	c.(637-639)Caa>Aaa	p.Q213K	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.Q213K|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.Q213K	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	213							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CAGAATGTCTCAAAATCTTGA	0.353000														127			6		0.00198382	0.00716019	0.00198382	1	0
KIAA1751	85452	broad.mit.edu	37	1	1888209	1888209	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:1888209C>T	uc001aim.1	-	16	2022	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	KIAA1751_uc009vkz.1_Silent_p.K622K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	622										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)		CAATGAGCTCCTTGTCGAGGG	0.627000														14			7		0	0	0.000274275	0	0
NINJ2	4815	broad.mit.edu	37	12	675180	675180	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:675180C>T	uc001qil.3	-	1	427	c.336G>A	c.(334-336)ctG>ctA	p.L112L	NINJ2_uc010sdr.2_Silent_p.L30L|NINJ2_uc010sds.2_Silent_p.L112L	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	Homo sapiens ninjurin 2 (NINJ2), mRNA.	66					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TGAGGGTGACCAGGGTGGTGT	0.617000														51			14		0	0	0.000308642	0	0
BCL11A	53335	broad.mit.edu	37	2	60688589	60688589	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:60688589C>T	uc002sae.1	-	3	1686	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	BCL11A_uc002sab.3_Silent_p.E486E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.E155E|BCL11A_uc010ypj.2_Silent_p.E452E|BCL11A_uc002sad.1_Silent_p.E334E|BCL11A_uc002saf.1_Silent_p.E452E	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	486	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcctcttcctcctcgtccc	0.637000			T	IGH@	B-CLL									142			40		0	0	0.00128727	0	0
OBSCN	84033	broad.mit.edu	37	1	228456260	228456260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228456260C>T	uc009xez.1	+	16	4935	c.4891C>T	c.(4891-4893)Cca>Tca	p.P1631S	OBSCN_uc001hsn.3_Missense_Mutation_p.P1631S|OBSCN_uc001hso.3_Missense_Mutation_p.P77S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1631	Ig-like 17.				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)				CAAGGAGCAGCCAGCACACAG	0.627000														25			22		0	0	0.0024448	0	0
CCDC108	255101	broad.mit.edu	37	2	219887933	219887933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219887933C>T	uc002vjl.1	-	15	2900	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	939	MSP.					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)		ACTCACAAGTCTCTCGTTGGG	0.597000														44			11		0	0	0.000673444	0	0
EP400	57634	broad.mit.edu	37	12	132546845	132546845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:132546845C>T	uc001ujn.3	+	45	8227	c.8075C>T	c.(8074-8076)tCt>tTt	p.S2692F	EP400_uc021rgq.1_Missense_Mutation_p.S2691F|EP400_uc001ujm.3_Missense_Mutation_p.S2611F|EP400_uc001ujp.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2728	Interaction with ZNF42 (By similarity).				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)		CCGGCACGGTCTTTGGTGCCC	0.617000														36			18		0	0	0.00074312	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018473	41018473	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41018473G>A	uc003jmj.4	-	26	3223	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	HEATR7B2_uc003jmi.4_Silent_p.I466I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	911							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						CTTTCGCAGTGATCTGGAAGG	0.393000														27			5		0	0	0.000602214	0	0
RDH11	51109	broad.mit.edu	37	14	68156954	68156954	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:68156954G>A	uc001xjv.4	-	4	729	c.639C>T	c.(637-639)acC>acT	p.T213T	RDH11_uc001xjx.4_Intron|RDH11_uc001xjw.4_Silent_p.T200T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	213					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCAGTTCCTGGGTGAAGAGGA	0.512000														56			18		0	0	0.00278032	0	0
COL8A2	1296	broad.mit.edu	37	1	36564630	36564630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36564630C>T	uc001bzv.2	-	1	659	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	COL8A2_uc001bzw.2_Missense_Mutation_p.A153T	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	218	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCTGGGGCCCCAGGCAGC	0.716000														21			7		0	0	0.00198382	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142459835G>A	uc003wak.2	+	2	428	c.411G>A	c.(409-411)acG>acA	p.T137T	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	137	Peptidase S1.		T -> M (in a colorectal cancer sample; somatic mutation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(4)|p.T137M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000														85			26		0	0	0.000720815	0	0
KATNAL2	83473	broad.mit.edu	37	18	44627357	44627357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44627357G>A	uc002lco.3	+	14	1576	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K		NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	533						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GACTGGCAAAGAGAGTTCGAG	0.468000											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			21		0	0	0.00188189	0	0
ADAT1	23536	broad.mit.edu	37	16	75646739	75646739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:75646739G>A	uc002feo.2	-	6	614	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	149	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TCAAGCATCGGAATGATGGAG	0.488000														35			21		0	0	0.00121646	0	0
GAMT	2593	broad.mit.edu	37	19	1397385	1397385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:1397385C>T	uc002lsj.3	-	5	761	c.684G>A	c.(682-684)atG>atA	p.M228I	AK126693_uc002lsi.1_5'Flank	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	228					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	GGGGCGTGATCATCTGTGGGA	0.701000														25			5		0	0	0.000602214	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520946	105520946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105520946C>T	uc010swr.2	+	12	1165	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	KIAA1033_uc001tld.3_Missense_Mutation_p.P360S|KIAA1033_uc010sws.2_Missense_Mutation_p.P172S	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	360					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTTGGTTTCCTGATAATTT	0.368000														26			45		0	0	0.000781405	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442133	41442133	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41442133C>T	uc010ehg.1	+	1	311	c.303C>T	c.(301-303)atC>atT	p.I101I	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.I101I|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GGGGAAAAATCGTCATCATGG	0.612000														19			19		0	0	0.00229938	0	0
MTMR3	8897	broad.mit.edu	37	22	30374500	30374501	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30374500_30374501CG>AT	uc003agv.4	+	3	401_402	c.73_74CG>AT	c.(73-75)cgg>ATg	p.R25M	MTMR3_uc003agu.4_Missense_Mutation_p.R25M|MTMR3_uc003agw.4_Missense_Mutation_p.R25M	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	25					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCAGCTGATCCGGGAGGATGAG	0.386000														284			7		0	0	6.4e-05	0	0
STAC	6769	broad.mit.edu	37	3	36570432	36570432	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:36570432C>T	uc003cgh.1	+	9	1104	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	STAC_uc011aya.1_Silent_p.F294F	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	355					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						TTAGAACCTTCATTGGGTGTA	0.393000														34			9		0	0	0.000274275	0	0
SRCAP	10847	broad.mit.edu	37	16	30736199	30736199	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30736199C>T	uc002dze.1	+	24	5839	c.5454C>T	c.(5452-5454)tcC>tcT	p.S1818S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.S1613S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1818	Pro-rich.				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)			ccccagcTTCCCAGGCATCTT	0.632000														31			13		0	0	0.00136819	0	0
TCRA	0	broad.mit.edu	37	14	22315350	22315350	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22315350G>A	uc001wbz.1	+	1	513	c.288G>A	c.(286-288)acG>acA	p.T96T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.T77T					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TCCACCTGACGAAACCCTCAG	0.512000														40			14		0	0	0.000958276	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651888	36651888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:36651888C>T	uc021yzb.1	+	2	112	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	CDKN1A_uc021yzc.1_Missense_Mutation_p.P4S|CDKN1A_uc011dtq.2_Missense_Mutation_p.P38S|CDKN1A_uc003omm.4_Missense_Mutation_p.P4S|CDKN1A_uc003omn.3_Missense_Mutation_p.P4S	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	4			P -> L (in dbSNP:rs4986866).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CATGTCAGAACCGGCTGGGGA	0.632000														12			6		0	0	0.00116845	0	0
ODZ2	57451	broad.mit.edu	37	5	167674098	167674098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167674098G>A	uc010jjd.3	+	26	6127	c.6127G>A	c.(6127-6129)Gtc>Atc	p.V2043I	ODZ2_uc003lzr.4_Missense_Mutation_p.V1813I|ODZ2_uc003lzt.4_Missense_Mutation_p.V1416I|ODZ2_uc010jje.3_Missense_Mutation_p.V1307I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.G2042W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTTGAAGATGGTCAACCTCCA	0.527000														26			37		0	0	0.000953801	0	0
DNAH5	1767	broad.mit.edu	37	5	13776775	13776775	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13776775T>A	uc003jfd.2	-	54	9188	c.9146A>T	c.(9145-9147)aAt>aTt	p.N3049I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3049	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGTCGCTATTAATTTCATC	0.408000									Kartagener syndrome					34			22		0	0	0.00188189	0	0
MRPL1	65008	broad.mit.edu	37	4	78808408	78808408	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:78808408G>T	uc003hku.2	+	4	719	c.521G>T	c.(520-522)gGa>gTa	p.G174V		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	174							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GAAGAAAATGGAGCTGCATTT	0.328000														32			12		4.3838e-07	1.59641e-06	0.00185496	1	0
CEACAM7	1087	broad.mit.edu	37	19	42187742	42187742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42187742C>T	uc002ori.1	-	2	682	c.680G>A	c.(679-681)aGt>aAt	p.S227N	CEACAM7_uc010ehx.2_Missense_Mutation_p.S227N|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	227	Ig-like C2-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)		GACTGGGTCACTGCGGCTGGC	0.542000														131			40		0	0	0.0025221	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655033	5655033	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5655033G>A	uc001mbh.3	+	3	581	c.424_splice	c.e3-1	p.E142_splice	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Splice_Site_p.E496_splice|TRIM6-TRIM34_uc001mbi.3_Splice_Site_p.E142_splice|TRIM6-TRIM34_uc001mbj.3_Splice_Site_p.E142_splice	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	496						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CCTTCTCATAGGAGAAACTCC	0.438000														14			16		0	0	0.00121646	0	0
TEK	7010	broad.mit.edu	37	9	27172711	27172711	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:27172711C>T	uc011lno.2	+	4	1168	c.726C>T	c.(724-726)tgC>tgT	p.C242C	TEK_uc010mjc.1_Silent_p.C95C|TEK_uc011lnn.1_Silent_p.C242C|TEK_uc003zqi.4_Silent_p.C242C|TEK_uc011lnp.2_Silent_p.C138C|TEK_uc003zqj.1_Silent_p.C219C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	242	EGF-like 1.				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)		AATGCATTTGCCCTCCTGGGT	0.443000														10			12		0	0	0.00136819	0	0
BPTF	2186	broad.mit.edu	37	17	65907642	65907642	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:65907642C>T	uc002jgf.3	+	10	3703	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	BPTF_uc002jge.3_Silent_p.F1340F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1340					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGATTTTTTCATCGATGACT	0.373000														43			19		0	0	0.000958276	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:18891712G>A	uc001rdy.3	+	0	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*	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.	170					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)				ACGGACTTTGGAAATCTAAAT	0.388000														12			24		0	0	0.00047179	0	0
TAPBPL	55080	broad.mit.edu	37	12	6562689	6562689	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6562689C>T	uc001qog.4	+	2	610	c.372C>T	c.(370-372)atC>atT	p.I124I	CD27-AS1_uc001qob.2_5'Flank|CD27-AS1_uc009zel.1_5'Flank|CD27-AS1_uc001qof.3_5'Flank|CD27-AS1_uc009zem.2_5'Flank|TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	124					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGTGAGATCTCCCGCTACT	0.577000														14			31		0	0	0.00209593	0	0
RANBP17	64901	broad.mit.edu	37	5	170345744	170345744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:170345744G>A	uc003mba.3	+	9	1124	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	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.	328					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)			TAATTATCATGAATTTTGTCG	0.323000			T	TRD@	ALL									37			12		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179648473	179648473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179648473G>A	uc021vsy.1	-	16	3040	c.2815C>T	c.(2815-2817)Cct>Tct	p.P939S	TTN_uc021vsz.1_Missense_Mutation_p.P893S|TTN_uc021vta.1_Missense_Mutation_p.P893S|TTN_uc021vtb.1_Missense_Mutation_p.P893S|TTN_uc002unb.2_Missense_Mutation_p.P939S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	939							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)			GGAGTAACAGGAATTTCAACA	0.348000														72			17		0	0	0.00121646	0	0
TPTE	7179	broad.mit.edu	37	21	10920164	10920164	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:10920164C>T	uc002yip.1	-	19	1458	c.1090_splice	c.e19-1	p.E364_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E346_splice|TPTE_uc002yir.1_Splice_Site_p.E326_splice|TPTE_uc010gkv.1_Splice_Site_p.E226_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	364	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGGCTTTCCTACAAAAAA	0.378000														53			8		0	0	0.000157383	0	0
LAMA3	3909	broad.mit.edu	37	18	21513856	21513856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:21513856G>A	uc002kuq.3	+	66	8905	c.8819G>A	c.(8818-8820)gGt>gAt	p.G2940D	LAMA3_uc002kur.3_Missense_Mutation_p.G2884D|LAMA3_uc002kus.4_Missense_Mutation_p.G1331D|LAMA3_uc002kut.4_Missense_Mutation_p.G1275D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2940					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)	TTGCTTAAAGGTTCTACCAGG	0.463000														78			12		0	0	0.00136819	0	0
OR2K2	26248	broad.mit.edu	37	9	114090528	114090528	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114090528G>A	uc011lwp.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTCCAAGGAATAAGTACA	0.408000														51			12		0	0	0.00185496	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925542	182925542	+	Missense_Mutation	SNP	G	A	A	rs148585637		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:182925542G>A	uc003fli.1	-	22	2656	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	856	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTTTATAACGATCCTTGTGA	0.428000														46			22		0	0	0.00229938	0	0
ZNF41	7592	broad.mit.edu	37	X	47308035	47308035	+	Silent	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:47308035T>G	uc004dhs.4	-	3	1327	c.1260A>C	c.(1258-1260)acA>acC	p.T420T	ZNF41_uc004dhu.4_Silent_p.T412T|ZNF41_uc004dht.4_Silent_p.T292T|ZNF41_uc004dhv.4_Silent_p.T388T|ZNF41_uc004dhw.4_Silent_p.T380T|ZNF41_uc004dhy.4_Silent_p.T378T|ZNF41_uc004dhx.4_Silent_p.T378T|ZNF41_uc011mlm.2_Silent_p.T292T	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	420						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTTCTCCTGTATGAATTC	0.403000														2			44		0	0	0.000680045	0	0
RIMS1	22999	broad.mit.edu	37	6	72957726	72957726	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:72957726T>C	uc003pga.3	+	11	2214	c.2137T>C	c.(2137-2139)Tcc>Ccc	p.S713P	RIMS1_uc011dyb.2_Missense_Mutation_p.S339P|RIMS1_uc003pgc.3_Missense_Mutation_p.S339P|RIMS1_uc010kaq.3_Missense_Mutation_p.S187P|RIMS1_uc011dyc.2_Missense_Mutation_p.S187P|RIMS1_uc010kar.3_Missense_Mutation_p.S106P|RIMS1_uc011dyd.2_Missense_Mutation_p.S172P|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.S339P|RIMS1_uc010kas.1_Missense_Mutation_p.S172P	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	713					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)				AGGTTCAAGTTCCTTTGAATC	0.328000														21			15		0	0	0.000422831	0	0
CDK18	5129	broad.mit.edu	37	1	205499810	205499810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205499810G>A	uc001hcr.3	+	14	1719	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	CDK18_uc001hcp.3_Missense_Mutation_p.R456Q|CDK18_uc001hcq.3_Missense_Mutation_p.R456Q|CDK18_uc010prj.2_Missense_Mutation_p.R367Q|CDK18_uc001hcs.3_Missense_Mutation_p.R367Q	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	454							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCAGGCTACCGAGGCTTGGCC	0.632000														34			7		0	0	0.000442599	0	0
SORBS2	8470	broad.mit.edu	37	4	186545032	186545032	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:186545032G>A	uc003iyg.3	-	12	1913	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.F613F|SORBS2_uc003iyl.3_Silent_p.F513F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.F417F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	513						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCTTTTCGAATTCGGAGA	0.572000														59			26		0	0	0.00106085	0	0
CIC	23152	broad.mit.edu	37	19	42794425	42794425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42794425C>T	uc002otf.1	+	9	1545	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGTTCCTCCTTTACCCAC	0.617000			"""Mis, F, S"""		oligodendroglioma									71			24		0	0	0.00278032	0	0
CAD	790	broad.mit.edu	37	2	27465189	27465189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27465189G>A	uc002rji.3	+	39	6278	c.6116G>A	c.(6115-6117)cGg>cAg	p.R2039Q	CAD_uc010eyw.3_Missense_Mutation_p.R1976Q	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2039	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGCACTGCCGGAGGCCAGTG	0.617000														40			18		0	0	0.000958276	0	0
DBC1	1620	broad.mit.edu	37	9	121929824	121929824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:121929824C>T	uc004bkc.2	-	7	2280	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	608					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AAAATGTTTTCCACCGATTGC	0.557000														105			40		0	0	0.00148497	0	0
FAM83D	81610	broad.mit.edu	37	20	37580853	37580853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:37580853C>T	uc002xjg.3	+	3	1579	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	483					cell division|mitosis	cytoplasm|spindle pole		p.S512C(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCTGTGTCTTCCCAAGGCTCT	0.512000														56			16		0	0	0.00074312	0	0
CLTB	1212	broad.mit.edu	37	5	175824609	175824609	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:175824609G>A	uc003meh.3	-	4	640	c.464_splice	c.e4+1	p.R155_splice	CLTB_uc003mei.3_Splice_Site_p.R155_splice|CLTB_uc011dfn.2_Splice_Site	NM_007097	NP_009028	P09497	CLCB_HUMAN	Homo sapiens clathrin, light chain B (CLTB), transcript variant 2, mRNA.	155	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CCCTCTCACCGGTTGTTGATC	0.602000														53			22		0	0	0.00229938	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889834	23889834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:23889834G>A	uc001ywj.4	-	0	3160	c.3056C>T	c.(3055-3057)cCc>cTc	p.P1019L		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCATCCAAGGGAGACAAGGG	0.572000														17			15		0	0	0.000308642	0	0
ODZ4	26011	broad.mit.edu	37	11	78419499	78419499	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:78419499G>A	uc001ozl.4	-	26	4579	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1372					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						CATTCTGATCGATGCGTCTGA	0.507000														13			12		0	0	0.00136819	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696984	128696984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:128696984C>T	uc003elj.4	-	4	908	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	KIAA1257_uc003elg.1_Missense_Mutation_p.G238S|KIAA1257_uc003eli.4_Missense_Mutation_p.G126S	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	238										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTCTCAATGCCCTGTTCAGAT	0.368000														62			23		0	0	0.000720815	0	0
OR6C3	254786	broad.mit.edu	37	12	55725853	55725853	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55725853C>T	uc010spj.2	+	0	369	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	123					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						ATGTTGCCATCTGCAAGCCCC	0.458000														39			69		0	0	0.000781405	0	0
ZNF560	147741	broad.mit.edu	37	19	9577548	9577548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9577548G>A	uc002mlp.1	-	9	2285	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	ZNF560_uc010dwr.1_Missense_Mutation_p.S586F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	692					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						ATTTCGAAAGGAATTTCCACA	0.378000														117			35		0	0	0.00111076	0	0
LALBA	3906	broad.mit.edu	37	12	48963728	48963728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														18			36		0	0	0.000692331	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677298	37677298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37677298G>A	uc002ofq.3	-	4	1393	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ZNF585B_uc002ofr.1_Missense_Mutation_p.P195S	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTCATAAGGTTTCTCTCCA	0.413000														85			23		0	0	0.000878237	0	0
EPHA7	2045	broad.mit.edu	37	6	94120784	94120784	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:94120784C>T	uc003poe.3	-	2	508	c.267G>A	c.(265-267)tgG>tgA	p.W89*	EPHA7_uc003pof.3_Nonsense_Mutation_p.W89*|EPHA7_uc011eac.2_Nonsense_Mutation_p.W89*|EPHA7_uc003pog.4_Nonsense_Mutation_p.W89*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	89						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)		CTTTGGAAATCCAGTTAGTCC	0.438000														24			17		0	0	0.000422831	0	0
COL27A1	85301	broad.mit.edu	37	9	116931714	116931714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:116931714C>T	uc011lxl.2	+	2	1879	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P477S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	627	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GATGGGGCCTCCGGGACCCAA	0.632000														66			17		0	0	0.00152264	0	0
FRMD7	90167	broad.mit.edu	37	X	131214289	131214289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131214289C>T	uc004ewn.3	-	9	1089	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	FRMD7_uc022cdy.1_Missense_Mutation_p.R184Q|FRMD7_uc011muy.2_Missense_Mutation_p.R289Q	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	304					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGGTTCGTCCACTATC	0.368000														1			22		0	0	0.00278032	0	0
LAMA1	284217	broad.mit.edu	37	18	6966186	6966186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6966186G>A	uc002knm.3	-	48	7104	c.7010C>T	c.(7009-7011)tCa>tTa	p.S2337L	LAMA1_uc002knl.3_5'Flank|LAMA1_uc010wzj.2_Missense_Mutation_p.S1813L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2337	Laminin G-like 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	p.S2337A(1)		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)	TCCATTAGGTGAAAAGGTATT	0.473000														45			10		0	0	0.000442599	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217444	150217444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150217444G>A	uc003whk.3	+	1	512	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	GIMAP7_uc022apu.1_Missense_Mutation_p.V128I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	128							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCACATGGTCATCTTGTT	0.512000														58			16		0	0	0.00121646	0	0
SCAND3	114821	broad.mit.edu	37	6	28543082	28543082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28543082C>T	uc003nlo.3	-	2	2018	c.1400G>A	c.(1399-1401)tGc>tAc	p.C467Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	467	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTGGCTTTGGCAGGTCTGAGA	0.428000														32			7		0	0	0.00198382	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222714	4222714	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:4222714G>A	uc010dtt.1	+	19	3495	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1073										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)		AAGCCTTGAAGGAGCAGCCGG	0.597000														16			12		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	2	89156784	89156784	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:89156784G>A	uc002sti.1	-	0		c.3491C>T			abParts_uc002stj.1_Non-coding_Transcript					Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor.																		ACCGCAATAGGGGTAGGTCCC	0.522000														5			6		0	0	0.00116845	0	0
PTPN1	5770	broad.mit.edu	37	20	49195842	49195842	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:49195842C>T	uc002xvl.3	+	6	1014	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PTPN1_uc010zys.2_Silent_p.F207F	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	280					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GTGCCAAATTCATCATGGGGG	0.483000														206			62		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9091626	9091626	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9091626G>T	uc002mkp.3	-	0	393	c.189C>A	c.(187-189)acC>acA	p.T63T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	63	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						GACTGGCCAAGGTCTTATCTG	0.512000														55			12		6.40141e-05	0.000232781	0.000978159	1	0
NSUN2	54888	broad.mit.edu	37	5	6625745	6625745	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:6625745G>C	uc003jdu.3	-	3	778	c.397C>G	c.(397-399)Cga>Gga	p.R133G	NSUN2_uc011cmk.2_Missense_Mutation_p.R98G|NSUN2_uc003jdv.3_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	133						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						AAGATTTTTCGACTTAAATTT	0.343000														16			21		0	0	0.00047179	0	0
OR4M2	390538	broad.mit.edu	37	15	22368900	22368900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22368900G>A	uc010tzu.2	+	0	423	c.325G>A	c.(325-327)Gct>Act	p.A109T	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|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.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(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)		CTTTGCTGGGGCTTCGGAGAT	0.468000														58			9		0	0	0.000442599	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840323	128840324	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:128840323_128840324CC>TT	uc009zcp.3	-	21	4742_4743	c.4742_4743GG>AA	c.(4741-4743)cgg>cAA	p.R1581Q	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R540Q|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1232Q	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1581	Interaction with GAB2.				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	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGCACTCTCCGGATGGTAGG	0.550000														12			13		0	0	6.4e-05	0	0
ADCY10	55811	broad.mit.edu	37	1	167779004	167779004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167779004C>T	uc001ger.3	-	32	5042	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1429K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1490K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1582					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACAATTTTTTCCCATGATGGG	0.388000														46			71		0	0	0.000781405	0	0
KIF17	57576	broad.mit.edu	37	1	21036224	21036224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21036224C>T	uc001bdr.4	-	3	696	c.578G>A	c.(577-579)tGg>tAg	p.W193*	KIF17_uc001bds.4_Nonsense_Mutation_p.W193*	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	193	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACGGTTCTTCCAGCCAGTCTC	0.582000														71			18		0	0	0.00121646	0	0
HCFC1	3054	broad.mit.edu	37	X	153223333	153223333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153223333G>A	uc004fjp.3	-	11	2561	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	678	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGATTGGAAATCTAAAA	0.557000														2			50		0	0	0.000781405	0	0
CD209	30835	broad.mit.edu	37	19	7809832	7809832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:7809832C>T	uc002mht.2	-	4	962	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CD209_uc010xju.1_Missense_Mutation_p.E138K|CD209_uc010dvp.2_Missense_Mutation_p.E275K|CD209_uc002mhr.2_Missense_Mutation_p.E275K|CD209_uc002mhs.2_Missense_Mutation_p.E229K|CD209_uc002mhu.2_Missense_Mutation_p.E207K|CD209_uc010dvq.2_Missense_Mutation_p.E299K|CD209_uc002mhq.2_Missense_Mutation_p.E299K|CD209_uc002mhv.2_Missense_Mutation_p.E275K|CD209_uc002mhx.2_Missense_Mutation_p.E255K|CD209_uc002mhw.2_Missense_Mutation_p.E163K|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	299	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTACCTGCTCCTCAGCACTT	0.572000														48			19		0	0	0.00121646	0	0
MYO5B	4645	broad.mit.edu	37	18	47431112	47431112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47431112C>T	uc002leb.2	-	19	2789	c.2501G>A	c.(2500-2502)aGg>aAg	p.R834K	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	834	Arg-rich.|IQ 3.				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)		TCTGCGGACCCTCTGGTAGGC	0.637000														107			15		0	0	0.000566183	0	0
abParts	0	broad.mit.edu	37	14	106453086	106453086	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106453086G>A	uc021ser.1	-	2606		c.44957C>T								Parts of antibodies, mostly variable regions.																		CCAAGAAGAGGATCCTCCAGG	0.542000														24			8		0	0	0.000673444	0	0
IL20	50604	broad.mit.edu	37	1	207039325	207039325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207039325G>A	uc001her.3	+	0	172	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	IL20_uc009xby.3_Missense_Mutation_p.R43Q	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	43					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.R43*(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CAGGAAATACGAAATGGATTT	0.473000														69			29		0	0	0.001512	0	0
SYT10	341359	broad.mit.edu	37	12	33535294	33535294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:33535294C>T	uc001rll.1	-	4	1657	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SYT10_uc009zju.1_Missense_Mutation_p.D264N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	454	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTATCGTAATCCATGACCGCA	0.458000														18			20		0	0	0.00188189	0	0
MIA3	375056	broad.mit.edu	37	1	222838656	222838656	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:222838656G>T	uc001hnl.3	+	27	5428	c.5419G>T	c.(5419-5421)Ggt>Tgt	p.G1807C	MIA3_uc001hnm.3_Missense_Mutation_p.G685C	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1807	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCCAGGCCCTGGTATGCGTCC	0.438000														419			9		0.000673444	0.00243932	0.000673444	1	0
CSMD2	114784	broad.mit.edu	37	1	34090665	34090665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34090665G>A	uc001bxm.1	-	33	5663	c.5486C>T	c.(5485-5487)gCg>gTg	p.A1829V	CSMD2_uc001bxn.1_Missense_Mutation_p.A1789V|CSMD2_uc001bxo.1_Missense_Mutation_p.A702V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1789	CUB 11.					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)				ACACGTGGGCGCTGAGACATT	0.642000														55			41		0	0	0.000680045	0	0
EPHA10	284656	broad.mit.edu	37	1	38185215	38185215	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:38185215T>C	uc009vvi.3	-	14	2713	c.2627A>G	c.(2626-2628)cAc>cGc	p.H876R	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	876	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATTAGTCGGTGCAGAAGGTT	0.627000														39			47		0	0	0.000781405	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223173	118223174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:118223173_118223174CC>TT	uc004era.4	-	10	2019_2020	c.2019_2020GG>AA	c.(2017-2022)gtggaa>gtAAaa	p.E674K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	674										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						GAAAGGCTTTCCACCATCAGTG	0.465000														16			10		0	0	6.4e-05	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325121	150325121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150325121C>T	uc022apv.1	-	2	1255	c.775G>A	c.(775-777)Gat>Aat	p.D259N	GIMAP6_uc003whn.3_Missense_Mutation_p.D189N|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	189							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCACATCCAGCCAGGCA	0.607000														210			38		0	0	0.00111076	0	0
XIRP2	129446	broad.mit.edu	37	2	168103231	168103231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168103231G>A	uc002udx.3	+	8	5418	c.5329G>A	c.(5329-5331)Gag>Aag	p.E1777K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1602K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1555K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1602					actin cytoskeleton organization	cell junction	actin binding	p.G1776E(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						ACAAGAAGGAGAGAAAGAAAT	0.403000														22			11		0	0	0.00185496	0	0
DEK	7913	broad.mit.edu	37	6	18256622	18256622	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:18256622T>A	uc003ncr.1	-	4	615	c.422A>T	c.(421-423)cAa>cTa	p.Q141L	DEK_uc011djf.1_Missense_Mutation_p.Q107L|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	141					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTTTATATTGGACACTTCC	0.264000			T	NUP214	AML									52			12		0	0	0.00244969	0	0
GABRA6	2559	broad.mit.edu	37	5	161113235	161113235	+	Splice_Site	SNP	G	A	A	rs140035570		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:161113235G>A	uc003lyu.2	+	2	377	c.39_splice	c.e2-1	p.W13_splice		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	13					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)	TCTACACACAGGCTAGAAAAT	0.448000										TCGA Ovarian(5;0.080)				29			16		0	0	0.000566183	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207213	105207213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105207213C>T	uc001ypd.3	+	6	696	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	ADSSL1_uc001ype.3_Missense_Mutation_p.P251S|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	208					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTCGATGTTCCCCACCCTGGA	0.597000														155			53		0	0	0.000781405	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835087	22835087	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:22835087T>C	uc001bft.2	+	8	2073	c.1562T>C	c.(1561-1563)gTt>gCt	p.V521A	ZBTB40_uc001bfu.2_Missense_Mutation_p.V521A|ZBTB40_uc009vqi.1_Missense_Mutation_p.V409A|ZBTB40_uc001bfv.1_Missense_Mutation_p.V150A	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	521					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATATCAGCAGTTCTAGAAAAG	0.463000														81			43		0	0	0.000781405	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890501	23890501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:23890501G>A	uc001ywj.4	-	0	2493	c.2389C>T	c.(2389-2391)Cag>Tag	p.Q797*		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGGCAGGCTGAAACTGGGAG	0.582000														63			14		0	0	0.000958276	0	0
VWA3A	146177	broad.mit.edu	37	16	22126769	22126769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:22126769C>T	uc010vbq.2	+	8	887	c.791C>T	c.(790-792)tCc>tTc	p.S264F	VWA3A_uc010bxc.2_Missense_Mutation_p.S251F	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	264						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACTGGATTCCCTGGTGGCC	0.468000														8			14		0	0	0.000308642	0	0
CORO1C	23603	broad.mit.edu	37	12	109051152	109051152	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109051152G>A	uc009zva.3	-	5	886	c.837C>T	c.(835-837)ttC>ttT	p.F279F	CORO1C_uc001tnj.3_Silent_p.F226F|CORO1C_uc010sxf.2_Silent_p.F189F	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	226					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CATCGGCCAGGAAGATGGCTC	0.552000														45			18		0	0	0.00074312	0	0
FRAS1	80144	broad.mit.edu	37	4	79308840	79308840	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79308840G>A	uc003hlb.2	+	28	4400	c.3960G>A	c.(3958-3960)gtG>gtA	p.V1320V	FRAS1_uc003hkw.3_Silent_p.V1320V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1319					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						TGTTCCAAGTGAAGACCGTGC	0.433000														12			12		0	0	0.00244969	0	0
PPRC1	23082	broad.mit.edu	37	10	103899845	103899845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:103899845C>T	uc001kum.3	+	4	1619	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V	PPRC1_uc001kun.3_Missense_Mutation_p.A407V|PPRC1_uc010qqj.2_Missense_Mutation_p.A527V|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGGCTCGGGCCTGGGCAGCT	0.542000														39			24		0	0	0.000878237	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118415	118415	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrGL000205.1:118415C>T	uc002kgk.4	+	0		c.1793C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTACATCCTTCCCAAGGGCCC	0.547000														69			13		0	0	0.00185496	0	0
PRL	5617	broad.mit.edu	37	6	22294638	22294638	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:22294638G>A	uc003ndp.3	-	2	723	c.204_splice	c.e2+1	p.F68_splice	PRL_uc003ndo.3_Splice_Site_p.F69_splice|PRL_uc003ndq.3_Splice_Site_p.F68_splice|PRL_uc003ndr.1_Splice_Site	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	68					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	p.F68F(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGTACTTACGAATTCGCTGA	0.527000														83			25		0	0	0.00127121	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362808	49362808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49362808G>A	uc002pkx.3	-	6	1161	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	PLEKHA4_uc010eml.3_Missense_Mutation_p.R204C	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.	204	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			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)		GGTCTACCACGACCTCTGGAG	0.677000														33			33		0	0	0.000953801	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830201	23830201	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:23830201C>T	uc003gqs.3	-	4	699	c.579G>A	c.(577-579)gcG>gcA	p.A193A	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	193					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAATACTCTTCGCTTTATTGC	0.413000														22			26		0	0	0.00127121	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216766	1216766	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:1216766C>T	uc003jbw.4	+	6	1037	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	327					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G326W(1)		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)			TCATTGGGTTCCGCGCCACAC	0.597000														29			16		0	0	0.000308642	0	0
PTK6	5753	broad.mit.edu	37	20	62164928	62164928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62164928C>T	uc002yfg.3	-	3	686	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	PTK6_uc011aay.2_Missense_Mutation_p.V115M|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	216	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q215*(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TTAATGGCCACCTGGACCCGG	0.657000														59			20		0	0	0.00121646	0	0
PZP	5858	broad.mit.edu	37	12	9333697	9333697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9333697G>A	uc001qvl.3	-	14	1750	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	PZP_uc009zgl.3_Missense_Mutation_p.P443L	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						TGAGGCTGGGGGACTTTGTGC	0.542000														27			31		0	0	0.000814825	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226266	50226266	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50226266G>A	uc001zxu.3	-	14	1543	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ATP8B4_uc010ber.3_Silent_p.F340F|ATP8B4_uc010ufd.2_Silent_p.F340F|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	467					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)		GTAACCTAAGGAATTCATGAA	0.388000														24			6		0	0	0.000274275	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561837	44561837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:44561837G>A	uc003tlb.3	-	10	2698	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	NPC1L1_uc011kbw.2_Intron|NPC1L1_uc003tlc.3_Missense_Mutation_p.S881L|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.	881					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)	AAGCAGGTACGAGTCCTAGGA	0.542000														2			24		0	0	0.00047179	0	0
SLIT2	9353	broad.mit.edu	37	4	20525790	20525790	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:20525790C>T	uc003gpr.1	+	13	1632	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	SLIT2_uc003gps.1_Silent_p.F476F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	476	LRRCT 2.				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						GCAAGAAATTCCGTTGTTCAG	0.473000														68			22		0	0	0.00152264	0	0
NGFR	4804	broad.mit.edu	37	17	47583862	47583862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:47583862C>T	uc002ioz.4	+	2	535	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	137					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTCGTGTTCTCCTGCCAGGAC	0.692000														17			13		0	0	0.000422831	0	0
ATG7	10533	broad.mit.edu	37	3	11356878	11356878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:11356878C>T	uc003bwc.3	+	6	706	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ATG7_uc003bwd.3_Missense_Mutation_p.P197S|ATG7_uc011aum.2_Missense_Mutation_p.P158S	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	197					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGCTCTTCCTTACTTCTT	0.373000														33			9		0	0	0.000442599	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578692	141578692	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:141578692G>A	uc010ioj.3	-	11	2468	c.2196C>T	c.(2194-2196)acC>acT	p.T732T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	732						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)				TTCCCAAAACGGTCATGGCCT	0.423000														139			70		0	0	0.000781405	0	0
EDA	1896	broad.mit.edu	37	X	69255270	69255270	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:69255270C>T	uc004dxs.3	+	7	1229	c.987C>T	c.(985-987)ttC>ttT	p.F329F	EDA_uc011mpj.2_Silent_p.F324F|EDA_uc004dxr.3_Silent_p.F327F	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	329					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGAAGCCCTTCCTGCAGTGCA	0.547000														12			9		0	0	0.000442599	0	0
DSE	29940	broad.mit.edu	37	6	116757959	116757959	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:116757959C>T	uc011ebg.2	+	5	2484	c.2385C>T	c.(2383-2385)cgC>cgT	p.R795R	DSE_uc003pws.3_Silent_p.R776R|DSE_uc003pwt.3_Silent_p.R776R|DSE_uc003pwu.3_Silent_p.R443R	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	776					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.R776R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTGCTGAACGCCTGCTGAGAT	0.463000														23			5		0	0	0.000602214	0	0
KCNA5	3741	broad.mit.edu	37	12	5154222	5154222	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5154222C>T	uc001qni.3	+	0	1138	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	303						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCAGCGGGGTCATGGCCCCGC	0.706000														25			40		0	0	0.00111076	0	0
FHOD1	29109	broad.mit.edu	37	16	67263792	67263792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67263792C>T	uc002esl.3	-	20	3428	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|FHOD1_uc010ced.3_Missense_Mutation_p.E913K	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1106					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCATGATCTCATCTGATGTA	0.572000														52			26		0	0	0.000720815	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39477044	39477044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39477044C>T	uc021wpr.1	+	2	571	c.278C>T	c.(277-279)tCc>tTc	p.S93F	APOBEC3F_uc003awx.3_Missense_Mutation_p.S93F|APOBEC3F_uc003awy.3_Missense_Mutation_p.S26F	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	93					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TGGTACATATCCTGGAGCCCC	0.532000														146			16		0	0	0.00074312	0	0
POU6F2	11281	broad.mit.edu	37	7	39504103	39504103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:39504103C>T	uc003thb.2	+	10	2037	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	POU6F2_uc022acb.1_Missense_Mutation_p.P596S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	632					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						GAACACACACCCTTCTGGGCA	0.502000														24			6		0	0	0.00198382	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953791	10953791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:10953791G>A	uc003bvz.3	+	6	942	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	303					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTAGATGCTGGAACGCAGATC	0.488000														160			69		0	0	0.000781405	0	0
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167385027A>G	uc001gec.3	+	16	2451	c.2212A>G	c.(2212-2214)Acc>Gcc	p.T738A	POU2F1_uc001gee.3_Missense_Mutation_p.T761A|POU2F1_uc010plh.2_Missense_Mutation_p.T698A|POU2F1_uc001ged.3_Missense_Mutation_p.T736A|POU2F1_uc001gef.3_Missense_Mutation_p.T750A|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582000														172			5		0	0	0.000602214	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515295	41515295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41515295G>A	uc002opr.1	+	4	824	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	273					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCTCCACATGGAAAAAGTGGG	0.567000														93			20		0	0	0.00188189	0	0
SLFN13	146857	broad.mit.edu	37	17	33772623	33772624	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33772623_33772624AG>CA	uc002hjk.1	-	0	406_407	c.76_77CT>TG	c.(76-78)ctg>TGg	p.L26W	SLFN13_uc010wch.1_Missense_Mutation_p.L26W|SLFN13_uc002hjl.2_Missense_Mutation_p.L26W|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	26						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCTTCTCCCAGAGTCACTTCT	0.470000														27			39		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9068288	9068288	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9068288G>A	uc002mkp.3	-	2	19362	c.19158C>T	c.(19156-19158)gtC>gtT	p.V6386V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6388	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						CTTTGTCAAAGACCGTGCTTG	0.463000														46			11		0	0	0.000673444	0	0
MUC3A	4584	broad.mit.edu	37	7	100551903	100551904	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														569			13		0	0	6.4e-05	0	0
STAB1	23166	broad.mit.edu	37	3	52557298	52557298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:52557298G>A	uc003dej.3	+	63	7155	c.7081G>A	c.(7081-7083)Gat>Aat	p.D2361N	STAB1_uc003dek.1_Missense_Mutation_p.D376N|STAB1_uc003del.3_Missense_Mutation_p.D248N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2361	FAS1 7.				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)		CTTCCTGGATGATGAGCTCAC	0.552000														88			26		0	0	0.000720815	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786072	19786072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:19786072C>T	uc003zoa.2	-	0	946	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLC24A2_uc003zob.2_Missense_Mutation_p.E265K	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	265					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGCAAGCTTTCCCACCACATG	0.383000														3			14		0	0	0.00244969	0	0
DENND2C	163259	broad.mit.edu	37	1	115130354	115130354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115130354C>T	uc001efd.1	-	18	3353	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R827Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	884										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		TCCACTTTTCCGAAGCTCTCG	0.398000														91			14		0	0	0.000422831	0	0
E2F8	79733	broad.mit.edu	37	11	19246210	19246210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:19246210G>A	uc001mpm.3	-	12	3121	c.2599C>T	c.(2599-2601)Cat>Tat	p.H867Y	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.H867Y	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	867					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTGATTAATGGACATCCTCT	0.378000														19			15		0	0	0.000566183	0	0
EVPLL	645027	broad.mit.edu	37	17	18284921	18284921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18284921G>A	uc002gte.3	+	3	478	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN	Homo sapiens envoplakin-like (EVPLL), mRNA.	75										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGACAGCATCGAGCAGCTGCA	0.662000														10			7		0	0	0.000157383	0	0
NFRKB	4798	broad.mit.edu	37	11	129751382	129751382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129751382G>A	uc001qfg.3	-	10	1536	c.1415C>T	c.(1414-1416)cCa>cTa	p.P472L	NFRKB_uc001qfi.3_Missense_Mutation_p.P447L|NFRKB_uc001qfh.3_Missense_Mutation_p.P470L|NFRKB_uc010sbw.1_Missense_Mutation_p.P459L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	447					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCAACAAATGGAGAGAAACT	0.453000											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			18		0	0	0.000958276	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991717	121991717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:121991717C>T	uc002tmx.3	-	11	1241	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	TFCP2L1_uc010flr.3_Missense_Mutation_p.R383Q|TFCP2L1_uc010flq.3_Non-coding_Transcript	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	383					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGGGGCACTCGATTCTGCTC	0.562000														57			18		0	0	0.000958276	0	0
MDGA2	161357	broad.mit.edu	37	14	47314980	47314980	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:47314980A>G	uc001wwj.4	-	15	3136	c.2978T>C	c.(2977-2979)cTa>cCa	p.L993P	MDGA2_uc001wwh.4_Missense_Mutation_p.L126P|MDGA2_uc001wwi.4_Missense_Mutation_p.L695P	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	924					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						CTTAGTTGCTAGGTCTTGTTT	0.313000														57			9		0	0	0.000442599	0	0
PIGR	5284	broad.mit.edu	37	1	207105058	207105058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207105058C>T	uc001hez.3	-	8	2282	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T	PIGR_uc009xbz.3_Missense_Mutation_p.A700T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	700						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCGAAGAGGCTCCCATGTTG	0.512000														98			28		0	0	0.000878237	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844884	+	Missense_Mutation	SNP	C	T	T	rs121912712		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:94844884C>T	uc001ycy.4	-	6	1713	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.E387K|SERPINA1_uc010auy.3_Missense_Mutation_p.E387K|SERPINA1_uc001ycz.4_Missense_Mutation_p.E387K|SERPINA1_uc010auz.3_Missense_Mutation_p.E387K|SERPINA1_uc010ava.3_Missense_Mutation_p.E387K|SERPINA1_uc001ydb.4_Missense_Mutation_p.E387K|SERPINA1_uc010avb.3_Missense_Mutation_p.E387K|SERPINA1_uc001ydc.4_Missense_Mutation_p.E387K|SERPINA1_uc010auw.3_Missense_Mutation_p.E387K|SERPINA1_uc010aux.3_Missense_Mutation_p.E387K	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488000														63			20		0	0	0.00121646	0	0
OR13C8	138802	broad.mit.edu	37	9	107331637	107331637	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107331637C>T	uc011lvo.2	+	0	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATTTCTTCCTCTGTAATCTTT	0.428000														197			59		0	0	0.000781405	0	0
MEGF10	84466	broad.mit.edu	37	5	126734473	126734473	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:126734473C>T	uc003kuh.4	+	7	1127	c.765C>T	c.(763-765)tgC>tgT	p.C255C	MEGF10_uc010jdc.1_Silent_p.C255C|MEGF10_uc010jdd.1_Silent_p.C255C|MEGF10_uc003kui.4_Silent_p.C255C	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	255	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AATGCTCTTGCCCTTCTGGCT	0.517000														13			35		0	0	0.000692331	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600298	141600298	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:141600298G>A	uc010ioj.3	-	4	921	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	217						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)				ACATCAGGCAGAAGCAGGGTG	0.493000														54			24		0	0	0.00106085	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318137	141318137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:141318137C>T	uc003lls.3	+	11	1483	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	KIAA0141_uc003llt.3_Missense_Mutation_p.P454L|KIAA0141_uc021yes.1_5'Flank	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	454					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCAGCCCCTCCCTCTGC	0.562000														31			46		0	0	0.000781405	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20126823	20126823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:20126823G>A	uc002zrr.2	+	1	318	c.211G>A	c.(211-213)Ggt>Agt	p.G71S	ZDHHC8_uc002zrq.3_Missense_Mutation_p.G71S|ZDHHC8_uc010gsa.3_5'Flank	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	71						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.G71C(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATGGACCCTGGTGTTTTCCC	0.557000														149			49		0	0	0.000781405	0	0
ATM	472	broad.mit.edu	37	11	108115720	108115720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:108115720C>T	uc001pkb.1	+	6	1253	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	ATM_uc009yxr.1_Missense_Mutation_p.H290Y	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	290					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)		AATTTATATCCATCATCCGAA	0.294000			"""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)				27			8		0	0	0.000274275	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29408455C>T	uc011dlp.2	+	0	740	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	221					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						GGCGTATCCTCGTTACCATCT	0.592000														113			70		0	0	0.000781405	0	0
SORL1	6653	broad.mit.edu	37	11	121391410	121391410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:121391410G>A	uc001pxx.3	+	8	1385	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	419					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)		CGAGTGGAAGGATTGCAAGGA	0.393000														17			16		0	0	0.000566183	0	0
CDC34	997	broad.mit.edu	37	19	535852	535852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:535852C>T	uc002lov.3	+	1	392	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	65					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CCTCAAGTTCCCCATCGACTA	0.637000														259			77		0	0	0.000781405	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264294	61264294	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61264294G>A	uc010xep.2	+	7	1068	c.900G>A	c.(898-900)gaG>gaA	p.E300E	SERPINB13_uc002ljc.3_Silent_p.E291E|SERPINB13_uc002ljd.3_Silent_p.E155E|SERPINB13_uc010xeq.2_Silent_p.E112E|SERPINB13_uc010xer.2_Silent_p.E112E	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	291					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGAGGTGGAGGACGGTTACG	0.522000														158			26		0	0	0.00106085	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332244	100332244	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:100332244C>T	uc021sxl.1	-	1		c.909G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GCAGCGGTCCCAGCCCCAGTG	0.647000														17			5		0	0	0.000602214	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265132	68265132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:68265132G>A	uc001xka.2	-	10	1986	c.1847C>T	c.(1846-1848)cCa>cTa	p.P616L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P616L|ZFYVE26_uc010tta.2_Missense_Mutation_p.P616L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	616					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTCTCTGATGGGGACCTCAA	0.537000														43			17		0	0	0.000566183	0	0
NPSR1	387129	broad.mit.edu	37	7	34851472	34851472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:34851472G>A	uc003teh.1	+	3	603	c.475G>A	c.(475-477)Gga>Aga	p.G159R	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G159R|NPSR1_uc010kwt.1_Missense_Mutation_p.G6R|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.G159R|NPSR1_uc010kww.1_Missense_Mutation_p.G148R|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	159						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTTCCTTCAAGGAGGTGAGCT	0.448000														116			26		0	0	0.001512	0	0
TNXB	7148	broad.mit.edu	37	6	32036660	32036660	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32036660C>T	uc003nzl.2	-	15	6043	c.5841G>A	c.(5839-5841)gtG>gtA	p.V1947V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2029					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						CATACAGGGTCACCAGGTATC	0.542000														147			124		0	0	0.000781405	0	0
ZNF486	90649	broad.mit.edu	37	19	20307999	20307999	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20307999G>A	uc002nou.2	+	3	537	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	160					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						GTAAATATGTGAAAGTCTTTC	0.303000														85			18		0	0	0.00152264	0	0
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107564394G>A	uc004bcl.3	-	33	5043	c.4639C>T	c.(4639-4641)Ccg>Tcg	p.P1547S		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1547					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTTGACTCGGAGGAAGTGCT	0.423000														47			45		0	0	0.000781405	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129979	55129979	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:55129979C>T	uc003han.4	+	3	844	c.513C>T	c.(511-513)tcC>tcT	p.S171S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Silent_p.S171S|PDGFRA_uc010igq.1_Silent_p.S65S|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	171	Ig-like C2-type 2.				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)	TACCTGCCTCCTACGACAGCA	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				41			12		0	0	0.00136819	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420946	105420946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105420946G>A	uc010axc.1	-	6	962	c.842C>T	c.(841-843)tCg>tTg	p.S281L	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.S181L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	281						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)			GGCCTCTGACGAGCTGTGTGA	0.612000														6			24		0	0	0.000586117	0	0
ISX	91464	broad.mit.edu	37	22	35478517	35478517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:35478517G>A	uc003anj.3	+	1	1187	c.236G>A	c.(235-237)aGg>aAg	p.R79K		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G78E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCAGAAGGAAGGAAGAGCAAG	0.552000														123			42		0	0	0.000680045	0	0
CSMD2	114784	broad.mit.edu	37	1	34180194	34180194	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34180194C>T	uc001bxm.1	-	20	3576	c.3399G>A	c.(3397-3399)agG>agA	p.R1133R	CSMD2_uc001bxn.1_Silent_p.R1093R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1093	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACCAACACACCTTGGCAGAG	0.597000														163			124		0	0	0.000781405	0	0
RIPK3	11035	broad.mit.edu	37	14	24806336	24806336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24806336G>A	uc001wpb.3	-	7	1441	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P211S|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P190S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	411					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GTTGAGGTAGGGCTGGGCATC	0.537000														44			13		0	0	0.00244969	0	0
NR2E3	10002	broad.mit.edu	37	15	72109979	72109979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72109979G>A	uc002ati.3	+	8	1377	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E		NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	396					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						AAGACCATAGGGAATACTCCA	0.468000														10			33		0	0	0.00209593	0	0
PKP1	5317	broad.mit.edu	37	1	201294069	201294069	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201294069G>A	uc001gwd.3	+	12	2149	c.1898_splice	c.e12-1	p.G633_splice	PKP1_uc001gwe.3_Splice_Site_p.G612_splice|PKP1_uc009wzm.3_Splice_Site_p.G220_splice	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	633					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTCTCCCAGGGAACCAGGTG	0.612000														201			30		0	0	0.000953801	0	0
SIRPD	128646	broad.mit.edu	37	20	1517841	1517841	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1517841G>A	uc002wfi.3	-	2	581	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	179						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGGGTTGGACGAAATAGTTTG	0.617000														58			20		0	0	0.000958276	0	0
EXOSC10	5394	broad.mit.edu	37	1	11129681	11129682	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11129681_11129682GG>TT	uc001asa.3	-	21	2472_2473	c.2422_2423CC>AA	c.(2422-2424)cca>AAa	p.P808K	EXOSC10_uc001asb.3_Missense_Mutation_p.P783K	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	808					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGTGGCTCTGGGTCCTTTGGC	0.480000														828			23		0	0	6.4e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18042918	18042919	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18042918_18042919GG>AA	uc021trm.1	+	17	5423_5424	c.5204_5205GG>AA	c.(5203-5205)cgg>cAA	p.R1735Q	MYO15A_uc021trl.1_Missense_Mutation_p.R1733Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1735	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)					GTACGGAGCCGGACACGGGTAA	0.639000														14			11		0	0	6.4e-05	0	0
OTP	23440	broad.mit.edu	37	5	76932724	76932724	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:76932724G>A	uc003kfg.3	-	1	517	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GAGTCTTGGCGAAGCTCCTCT	0.637000														90			39		0	0	0.00195071	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545460	45545460	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:45545460A>T	uc001zva.2	+	1	112	c.47A>T	c.(46-48)gAg>gTg	p.E16V		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	16					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCCACAGTGGAGACTGGCACA	0.507000														14			8		0	0	0.000442599	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6244543	6244543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6244543C>T	uc002kmz.4	-	5	424	c.264G>A	c.(262-264)atG>atA	p.M88I	L3MBTL4_uc002kmy.4_Missense_Mutation_p.M88I|L3MBTL4_uc010dkt.3_Missense_Mutation_p.M88I	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	88					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)				CTTCTAATCTCATTCCAATCT	0.413000														201			43		0	0	0.000781405	0	0
XPO6	23214	broad.mit.edu	37	16	28113227	28113227	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28113227A>T	uc002dpa.1	-	21	3487	c.2986T>A	c.(2986-2988)Ttt>Att	p.F996I	XPO6_uc002dpb.1_Missense_Mutation_p.F982I|XPO6_uc010vcp.1_Missense_Mutation_p.F996I	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	996					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTTTGTTTAAAAAGGTGGATG	0.468000														43			15		0	0	0.000422831	0	0
DLG5	9231	broad.mit.edu	37	10	79603326	79603326	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:79603326G>A	uc001jzk.3	-	5	1073	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	DLG5_uc001jzj.3_Silent_p.L90L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'Flank	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	335					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCGGCTCAGGTCTGCATTG	0.582000														52			38		0	0	0.00222228	0	0
OR13F1	138805	broad.mit.edu	37	9	107266990	107266990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107266990G>A	uc011lvm.2	+	0	447	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	149					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						CTGGCTCCTGGATGACAGGCT	0.493000														70			56		0	0	0.000781405	0	0
LIG3	3980	broad.mit.edu	37	17	33321311	33321311	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33321311C>G	uc002hik.2	+	8	1601	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	LIG3_uc002hij.3_Missense_Mutation_p.S491C|LIG3_uc010cth.1_Missense_Mutation_p.S500C	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	491					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCCTGCAAGTCCGTTGAGTAT	0.527000								Other BER factors						72			20		0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9059164	9059164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9059164C>T	uc002mkp.3	-	2	28486	c.28282G>A	c.(28282-28284)Gaa>Aaa	p.E9428K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9430	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						CTGTTTTTTTCCACAGACAGC	0.502000														55			10		0	0	0.000978159	0	0
VAT1L	57687	broad.mit.edu	37	16	77859274	77859274	+	Silent	SNP	C	T	T	rs149678482	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77859274C>T	uc002ffg.1	+	2	592	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	165							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						CCATGAACTTCGTCACAGCCT	0.552000														4			15		0	0	0.00244969	0	0
GFRAL	389400	broad.mit.edu	37	6	55264058	55264058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:55264058C>T	uc003pcm.1	+	6	1119	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	345						integral to membrane	receptor activity	p.H345Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AACTGGATTTCATTCCCCCTT	0.284000														9			9		0	0	0.000274275	0	0
MATN4	8785	broad.mit.edu	37	20	43929849	43929849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43929849C>T	uc002xnn.2	-	4	969	c.782G>A	c.(781-783)aGc>aAc	p.S261N	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Missense_Mutation_p.S220N|MATN4_uc010zwr.1_Missense_Mutation_p.S209N|MATN4_uc002xnr.1_Missense_Mutation_p.S261N	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	302	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTTCCCAAAGCTGCAGTAGTC	0.602000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			37		0	0	0.00128727	0	0
FBN2	2201	broad.mit.edu	37	5	127674668	127674668	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:127674668G>A	uc003kuu.3	-	25	3868	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	FBN2_uc003kuv.2_Silent_p.F1110F	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1143	EGF-like 16; 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)		CATAGCCTTCGAAGCACTCGC	0.502000														18			31		0	0	0.00178596	0	0
NLRP11	204801	broad.mit.edu	37	19	56321216	56321216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56321216G>A	uc010ygf.2	-	4	1471	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	NLRP11_uc002qlz.3_Missense_Mutation_p.P155S|NLRP11_uc002qmb.3_Missense_Mutation_p.P155S|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.	254	NACHT.						ATP binding	p.P254S(2)		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)		ACTGGAATGGGAACTTTCTGG	0.448000														41			37		0	0	0.000953801	0	0
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:42605786G>A	uc003bcj.1	-	0	5660	c.5526C>T	c.(5524-5526)atC>atT	p.I1842I	TCF20_uc003bck.1_Silent_p.I1842I	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517000														508			44		0	0	0.000781405	0	0
DUOX1	53905	broad.mit.edu	37	15	45431792	45431792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:45431792G>A	uc001zus.1	+	12	1730	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	DUOX1_uc001zut.1_Missense_Mutation_p.D462N|DUOX1_uc010bee.1_Intron	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	462	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGAGCAATGACACTGTGAG	0.607000														7			10		0	0	0.000673444	0	0
BICD2	23299	broad.mit.edu	37	9	95481688	95481688	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:95481688C>T	uc004asp.1	-	4	1296	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	BICD2_uc004aso.1_Silent_p.E413E	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	413					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACGGTCCTTCTCGTTGTCCA	0.607000														57			11		0	0	0.000978159	0	0
MEGF8	1954	broad.mit.edu	37	19	42863316	42863316	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42863316T>A	uc002otl.4	+	29	5844	c.5209T>A	c.(5209-5211)Tcg>Acg	p.S1737T	MEGF8_uc002otm.4_Missense_Mutation_p.S1345T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1804						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGGGGCGCTCGGACCCTGA	0.652000														7			6		0	0	0.000157383	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021937	51021937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51021937C>T	uc002pss.3	-	2	1170	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	345	LRRCT.					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)		CCCTTGAGGCCGGCGGGCGCA	0.667000														38			7		0	0	0.000157383	0	0
TTLL7	79739	broad.mit.edu	37	1	84386789	84386789	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:84386789G>A	uc001djc.3	-	11	1741	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	449					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCCATATGTCGATTTTCATGT	0.323000														49			11		0	0	0.00136819	0	0
LAMA5	3911	broad.mit.edu	37	20	60892524	60892525	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:60892524_60892525CC>TT	uc002ycq.3	-	54	7454_7455	c.7387_7388GG>AA	c.(7387-7389)ggg>AAg	p.G2463K	LAMA5_uc021wfw.1_Missense_Mutation_p.G2463K	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2463	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)	GGTCCGAGCCCCATCCAGGCTG	0.678000														30			6		0	0	6.4e-05	0	0
CBLC	23624	broad.mit.edu	37	19	45281499	45281500	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45281499_45281500GG>AT	uc002ozs.3	+	0	374_375	c.311_312GG>AT	c.(310-312)agg>aAT	p.R104N	CBLC_uc010ejt.3_Missense_Mutation_p.R104N	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	104	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)				CGGGGCCGAAGGAGTGCCAACG	0.673000			M		AML									119			63		0	0	6.4e-05	0	0
DARC	2532	broad.mit.edu	37	1	159175916	159175916	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159175916G>A	uc001ftp.4	+	0	868	c.693G>A	c.(691-693)aaG>aaA	p.K231K	DARC_uc001fto.3_Silent_p.K229K	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	229					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)					TTGGAGCCAAGGGGCTGAAGA	0.542000														74			19		0	0	0.00229938	0	0
SP140L	93349	broad.mit.edu	37	2	231222606	231222606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231222606C>T	uc010fxm.1	+	2	285	c.194C>T	c.(193-195)tCa>tTa	p.S65L	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	65	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CTGGAGATATCAAATGCAATA	0.393000														156			127		0	0	0.000781405	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117175322C>T	uc003vjd.3	+	5	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	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.	200	ABC transmembrane type-1 1.				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)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis					198			56		0	0	0.000781405	0	0
LY9	4063	broad.mit.edu	37	1	160793326	160793326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160793326C>T	uc001fwu.3	+	7	1620	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	LY9_uc001fwv.3_Missense_Mutation_p.P510S|LY9_uc001fww.3_Missense_Mutation_p.P434S|LY9_uc001fwy.1_Missense_Mutation_p.P322S|LY9_uc001fwz.3_Missense_Mutation_p.P162S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	524					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)			TCCCCTCAGGCCTGCCAGGCA	0.562000														47			17		0	0	0.000958276	0	0
CD93	22918	broad.mit.edu	37	20	23065861	23065861	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23065861C>T	uc002wsv.3	-	0	1117	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	323	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGTTTTTCCCATGGGGTC	0.637000														26			12		0	0	0.00136819	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558876	113558876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:113558876G>A	uc010ljy.1	-	0	207	c.176C>T	c.(175-177)tCa>tTa	p.S59L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	59					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						TCTAGTACCTGAAGATGGGGT	0.403000														20			29		0	0	0.000878237	0	0
ZNF627	199692	broad.mit.edu	37	19	11725377	11725377	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11725377C>T	uc002msk.2	+	1	247	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGTGAACTTCACCCTGGAGG	0.532000														90			27		0	0	0.00127121	0	0
DYTN	391475	broad.mit.edu	37	2	207530696	207530696	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207530696G>A	uc002vbr.1	-	9	1155	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	346						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTTCTTCCTGGGAGGTGTATA	0.413000														38			31		0	0	0.00178596	0	0
NOMO1	23420	broad.mit.edu	37	16	14975490	14975490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:14975490G>A	uc002dcv.3	+	24	3041	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	992						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGCATTTACGGAGAAGACACC	0.502000														118			61		0	0	0.000781405	0	0
MST1P2	11209	broad.mit.edu	37	1	16973951	16973951	+	RNA	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16973951C>G	uc009vow.2	+	4		c.761C>G			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCCATTACCGCCCCCAGGTTC	0.627000														114			4		0	0	0.00198382	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088079	92088079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92088079C>T	uc001xzs.1	-	18	2273	c.2133G>A	c.(2131-2133)tgG>tgA	p.W711*	CATSPERB_uc010aub.1_Nonsense_Mutation_p.W233*	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	711					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				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)				AATATATTTTCCATGTTCGTC	0.368000														85			23		0	0	0.00278032	0	0
COL12A1	1303	broad.mit.edu	37	6	75828862	75828862	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:75828862C>T	uc021zbv.1	-	44	7286	c.7251G>A	c.(7249-7251)tgG>tgA	p.W2417*	COL12A1_uc021zbw.1_Nonsense_Mutation_p.W1253*|COL12A1_uc003phs.3_Nonsense_Mutation_p.W2417*|COL12A1_uc003pht.3_Nonsense_Mutation_p.W1253*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2417	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGCCGCTCTCCCAAGTCAAGA	0.498000														15			8		0	0	0.000157383	0	0
NYAP2	57624	broad.mit.edu	37	2	226378191	226378191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:226378191C>T	uc002voe.2	+	2	501	c.326C>T	c.(325-327)cCt>cTt	p.P109L	NYAP2_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	109																	CTTCCCCATCCTTGCTCCAGT	0.562000														31			10		0	0	0.000673444	0	0
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248309366G>A	uc010pze.2	+	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	306					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)			AAAGTGTTAGGAAAGGGCAAG	0.438000														36			6		0	0	0.00116845	0	0
COL22A1	169044	broad.mit.edu	37	8	139712353	139712353	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139712353A>C	uc003yvd.3	-	32	3039	c.2592_splice	c.e32+1	p.P864_splice	COL22A1_uc011ljo.2_Splice_Site_p.P164_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	864	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)			GCTACTACTTACGGGCATCCG	0.557000										HNSCC(7;0.00092)				22			5		0	0	0.000157383	0	0
ACSS3	79611	broad.mit.edu	37	12	81627164	81627164	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81627164G>T	uc001szl.1	+	12	1724	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	ACSS3_uc001szm.1_Nonsense_Mutation_p.E544*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E227*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	545						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						TTACATGGATGAAGAAGGCTA	0.338000														15			11		9.05144e-12	3.30564e-11	0.00185496	1	0
ASTN1	460	broad.mit.edu	37	1	176903372	176903372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:176903372C>T	uc001glc.3	-	15	2799	c.2587G>A	c.(2587-2589)Ggc>Agc	p.G863S	ASTN1_uc001glb.1_Missense_Mutation_p.G863S|ASTN1_uc001gld.1_Missense_Mutation_p.G863S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	871					cell migration|neuron cell-cell adhesion	integral to membrane		p.G863A(1)		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						TCCTCAAAGCCGTAGATAGCT	0.527000														23			36		0	0	0.00058488	0	0
KRT2	3849	broad.mit.edu	37	12	53042018	53042018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:53042018G>A	uc001sat.3	-	4	1094	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	354	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCATACTGGGCCTTGACCTC	0.552000														99			42		0	0	0.00222228	0	0
ZBBX	79740	broad.mit.edu	37	3	167031864	167031864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:167031864C>T	uc011bpc.2	-	15	1652	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	ZBBX_uc003feq.3_Missense_Mutation_p.E410K|ZBBX_uc003fep.3_Missense_Mutation_p.E439K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	439						intracellular	zinc ion binding	p.Y438F(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						ATGCCATTTTCATATGGAAAG	0.289000														47			29		0	0	0.00106085	0	0
NUAK1	9891	broad.mit.edu	37	12	106460902	106460902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:106460902C>T	uc001tlj.1	-	6	3044	c.1664G>A	c.(1663-1665)gGt>gAt	p.G555D		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	555							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						GGCAGGGACACCAGGCTCTGA	0.587000														19			29		0	0	0.0024448	0	0
CD163L1	283316	broad.mit.edu	37	12	7559178	7559179	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7559178_7559179GT>AA	uc010sge.2	-	4	1092_1093	c.1066_1067AC>TT	c.(1066-1068)acc>TTc	p.T356F	CD163L1_uc001qsy.3_Missense_Mutation_p.T346F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	346	SRCR 3.					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						AAAATTGACGGTTCCGGAATGT	0.426000														40			9		0	0	6.4e-05	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629808	9629808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:9629808G>A	uc003jem.1	-	0	656	c.337C>T	c.(337-339)Cca>Tca	p.P113S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	113					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						ATGAAGAGTGGGTGACGGACG	0.443000														6			22		0	0	0.00152264	0	0
SMARCA2	6595	broad.mit.edu	37	9	2081880	2081880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:2081880G>A	uc003zhc.3	+	14	2332	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	SMARCA2_uc003zhd.3_Missense_Mutation_p.G745R|SMARCA2_uc010mha.3_Missense_Mutation_p.G736R	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.	745	Helicase ATP-binding.				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)		CAACTTGAACGGAATCTTAGC	0.423000														3			15		0	0	0.000566183	0	0
DDX60	55601	broad.mit.edu	37	4	169188838	169188838	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:169188838G>A	uc003irp.3	-	21	3226	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	978							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTCTCCATAGAGCACTAAAA	0.348000														43			17		0	0	0.000958276	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39144264	39144264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:39144264C>T	uc004abi.3	-	10	1968	c.1729G>A	c.(1729-1731)Ggc>Agc	p.G577S	CNTNAP3_uc004abj.3_Missense_Mutation_p.G577S|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.G577S|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	577	EGF-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCGTATAGCCTGTGCCTAGA	0.493000														5			6		0	0	0.000673444	0	0
KANSL1	284058	broad.mit.edu	37	17	44109612	44109612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:44109612G>A	uc002ikc.3	-	13	3362	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	KANSL1_uc002ikd.3_Missense_Mutation_p.P964L|KANSL1_uc010dav.3_Missense_Mutation_p.P963L|KANSL1_uc010wkb.2_Missense_Mutation_p.P295L|KANSL1_uc010wkc.2_Missense_Mutation_p.P232L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	964						MLL1 complex	protein binding										GGGGGTGGAGGGGTTGGCACT	0.582000														49			65		0	0	0.000781405	0	0
KIF25	3834	broad.mit.edu	37	6	168445589	168445589	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:168445589C>T	uc003qwk.1	+	8	1330	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KIF25_uc003qwl.1_Silent_p.F304F	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	356					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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)		GCCTGGGTTTCGGGATCCGAG	0.562000														44			29		0	0	0.00127121	0	0
FOXP2	93986	broad.mit.edu	37	7	114329980	114329980	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:114329980G>A	uc003vhb.3	+	16	2521	c.2147G>A	c.(2146-2148)tGa>tAa	p.*716*	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.*741*|FOXP2_uc003vha.3_Silent_p.*624*|FOXP2_uc011kmv.2_Silent_p.*715*|FOXP2_uc011kmu.2_Silent_p.*733*|FOXP2_uc010ljz.2_Silent_p.*531*	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	0					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATCTGGAATGAGAACTGACT	0.403000														33			9		0	0	0.000673444	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759941	110759941	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:110759941G>A	uc003puf.3	-	4	1360	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	SLC22A16_uc003pue.3_Silent_p.V412V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	431			V -> I (in dbSNP:rs35948062).		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)		TCACCATAACGACACCACAGG	0.458000														27			27		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179417696	179417696	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179417696C>T	uc021vsy.1	-	283	82452	c.82227G>A	c.(82225-82227)aaG>aaA	p.K27409K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K21104K|TTN_uc021vta.1_Silent_p.K21037K|TTN_uc021vtb.1_Silent_p.K20912K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28336							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)			ACCATGTTCTCTTGGTGGCAT	0.418000														21			18		0	0	0.000958276	0	0
KCNT2	343450	broad.mit.edu	37	1	196205198	196205198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196205198C>T	uc001gtd.1	-	26	3274	c.3214G>A	c.(3214-3216)Gaa>Aaa	p.E1072K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E1005K|KCNT2_uc001gtf.1_Missense_Mutation_p.E1048K|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1072						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATTCATTTCATCTAGAAGA	0.333000														96			50		0	0	0.000781405	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555256	44555256	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44555256T>A	uc010xdb.2	-	0	1194	c.958A>T	c.(958-960)Atg>Ttg	p.M320L	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.	320	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						TACACCGGCATCTTAGCGTTC	0.657000														748			47		0	0	0.000953801	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685875	125685875	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:125685875G>A	uc022cds.1	-	0	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L	DCAF12L1_uc004eul.3_Silent_p.L239L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	239										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATATACGGGGAGACCCACCT	0.667000														16			17		0	0	0.00074312	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317962	77317962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77317962G>A	uc002ffc.4	-	22	3976	c.3557C>T	c.(3556-3558)cCa>cTa	p.P1186L		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1186	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1186S(1)		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						TACGCAGGATGGATCCTCTAA	0.393000														54			14		0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189860485	189860485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:189860485G>A	uc002uqj.1	+	21	1694	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	526	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)	GAACCTGGCAGAGATGGCGTC	0.468000														3			4		0	0	0.00024832	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31102932	31102932	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:31102932G>A	uc003tca.2	+	2	340	c.51_splice	c.e2+1	p.M17_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.M17_splice	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	17					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						GCTGCCTATGGTAAGGGCCCA	0.592000														79			10		0	0	0.000673444	0	0
SNX11	29916	broad.mit.edu	37	17	46198718	46198718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:46198718C>T	uc002inf.1	+	7	1015	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	SNX11_uc010wlg.1_Missense_Mutation_p.P213S|SNX11_uc002ing.1_Missense_Mutation_p.P221S|SNX11_uc010wlh.1_Missense_Mutation_p.P213S|SNX11_uc010wli.1_Missense_Mutation_p.P160S|SNX11_uc010wlj.1_Missense_Mutation_p.P77S|SNX11_uc002inh.1_Missense_Mutation_p.P221S	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	221					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTTGGAAAGTCCCACTCTCCC	0.542000														103			40		0	0	0.00148497	0	0
CGNL1	84952	broad.mit.edu	37	15	57731589	57731589	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:57731589G>A	uc010bfw.3	+	2	1585	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	CGNL1_uc002aeg.3_Silent_p.P464P	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	464	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTCCCCAGCCGAACATAGATG	0.592000														30			9		0	0	0.000442599	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871325	51871325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51871325C>T	uc002xwo.3	+	1	2215	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	TSHZ2_uc021wex.1_Missense_Mutation_p.P440L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	443					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)			TCTCTGGCTCCCAAGCCATCC	0.478000														140			41		0	0	0.00285205	0	0
RLBP1	6017	broad.mit.edu	37	15	89761846	89761846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89761846C>T	uc002bnl.3	-	3	471	c.91G>A	c.(91-93)Gga>Aga	p.G31R		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	31					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)	AAGACAGGTCCATGGTCCTTG	0.602000														37			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179470335	179470335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179470335C>T	uc021vsy.1	-	227	46208	c.45983G>A	c.(45982-45984)gGa>gAa	p.G15328E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9023E|TTN_uc021vta.1_Missense_Mutation_p.G8956E|TTN_uc021vtb.1_Missense_Mutation_p.G8831E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16255	Ig-like 97.						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)			AATGATATATCCTTGGATGGG	0.448000														41			11		0	0	0.000673444	0	0
CCDC105	126402	broad.mit.edu	37	19	15132229	15132229	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15132229A>T	uc002nae.2	+	3	1038	c.939A>T	c.(937-939)gaA>gaT	p.E313D		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	313					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCTTGGTAGAAATGGCAAAGA	0.602000														20			31		0	0	0.00058488	0	0
DENND1C	79958	broad.mit.edu	37	19	6468914	6468914	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6468914G>T	uc002mfe.3	-	19	1550	c.1458C>A	c.(1456-1458)ctC>ctA	p.L486L	DENND1C_uc002mfb.3_Silent_p.L36L|DENND1C_uc002mfc.3_Silent_p.L36L|DENND1C_uc002mfd.3_Silent_p.L36L|DENND1C_uc010xje.2_Silent_p.L442L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	486						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGCGGCTGGGGAGGGCTGGGG	0.622000														38			18		5.35356e-11	1.95375e-10	0.00278032	1	0
C15orf29	79768	broad.mit.edu	37	15	34445050	34445050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:34445050C>T	uc001zhp.3	-	3	539	c.379G>A	c.(379-381)Gat>Aat	p.D127N	C15orf29_uc010ubz.2_Missense_Mutation_p.D31N|C15orf29_uc010uca.1_Missense_Mutation_p.D127N	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	127						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		GAACCAGAATCACTGGAGTTA	0.388000														20			27		0	0	0.00106085	0	0
AGBL2	79841	broad.mit.edu	37	11	47711717	47711717	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47711717G>A	uc001ngg.3	-	9	1844	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.S476S|AGBL2_uc001ngh.1_Silent_p.S458S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	514					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						TTCCGGCCAAGGAACACCGAT	0.443000														26			15		0	0	0.000422831	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551667	1551667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1551667C>T	uc010gai.3	-	3	967	c.868G>A	c.(868-870)Gga>Aga	p.G290R	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	290	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GACACATTTCCATTCTCCAAC	0.552000														53			15		0	0	0.00074312	0	0
FANCB	2187	broad.mit.edu	37	X	14868780	14868780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:14868780G>A	uc004cwg.1	-	6	1611	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	FANCB_uc004cwh.1_Missense_Mutation_p.P448L	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	448					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACCACAAAGAGGAACAAGACA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					17			15		0	0	0.000308642	0	0
ZNF536	9745	broad.mit.edu	37	19	31025854	31025854	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31025854G>A	uc002nsu.1	+	2	2409	c.2271G>A	c.(2269-2271)ggG>ggA	p.G757G	ZNF536_uc010edd.1_Silent_p.G757G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	757					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)					CGTACTGTGGGAAAACTTTCC	0.597000														98			35		0	0	0.000814825	0	0
ZNF28	7576	broad.mit.edu	37	19	53311333	53311333	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53311333T>C	uc002qad.3	-	2	226	c.69A>G	c.(67-69)aaA>aaG	p.K23K	ZNF28_uc002qac.3_5'UTR|ZNF28_uc010eqe.3_Intron	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTCCAGGCATTTCCACTCCT	0.483000														148			5		0	0	0.000673444	0	0
PLCL2	23228	broad.mit.edu	37	3	17053427	17053427	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:17053427C>T	uc011awc.2	+	2	2661	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	PLCL2_uc011awd.2_Silent_p.S737S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	863					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						CCCTGCAGTCCTTAACTGGAG	0.483000														96			29		0	0	0.000814825	0	0
ZNF536	9745	broad.mit.edu	37	19	31039511	31039511	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31039511G>A	uc002nsu.1	+	3	3123	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	ZNF536_uc010edd.1_Silent_p.Q995Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	995					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)					TAACTGTGCAGGACAGCATTG	0.582000														79			28		0	0	0.000720815	0	0
OR10A6	390093	broad.mit.edu	37	11	7950003	7950003	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:7950003C>T	uc010rbh.2	-	0	207	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	69					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)		AACTCAGGTCCACCACAGATA	0.443000														25			19		0	0	0.00152264	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382928	56382928	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:56382928C>T	uc002ivx.4	-	27	6205	c.5334G>A	c.(5332-5334)caG>caA	p.Q1778Q	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.Q10Q|BZRAP1_uc010dcs.3_Silent_p.Q1718Q|BZRAP1_uc010wnt.2_Silent_p.Q1769Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1778	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTCTCCTGGGGGTTGT	0.602000														28			17		0	0	0.00121646	0	0
COL19A1	1310	broad.mit.edu	37	6	70850851	70850851	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:70850851G>A	uc003pfc.1	+	19	1569	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	COL19A1_uc010kam.2_Silent_p.E380E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	484	Triple-helical region 3 (COL3).				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						CTTAGGGAGAGCCTTTTACAA	0.373000														19			24		0	0	0.00047179	0	0
C5orf25	375484	broad.mit.edu	37	5	175717561	175717561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:175717561C>T	uc003mds.4	+	3	1384	c.977C>T	c.(976-978)tCa>tTa	p.S326L	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.S345L|C5orf25_uc003mdu.1_Missense_Mutation_p.S237L			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	326	Pro-rich.											all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GTGTTACATTCACCTGGAGAC	0.532000														61			27		0	0	0.00106085	0	0
C14orf133	63894	broad.mit.edu	37	14	77919703	77919703	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:77919703G>A	uc001xtt.2	-	3	552	c.135C>T	c.(133-135)ttC>ttT	p.F45F	C14orf133_uc001xtu.2_Silent_p.F45F|C14orf133_uc001xtv.2_Silent_p.F45F|C14orf133_uc021rwu.1_Silent_p.F45F|C14orf133_uc010tvj.2_Silent_p.F45F	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	45					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)		CATCATCCACGAAGTCTCGGA	0.537000														285			93		0	0	0.000781405	0	0
CNTN3	5067	broad.mit.edu	37	3	74344349	74344349	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:74344349G>A	uc003dpm.1	-	17	2520	c.2440C>T	c.(2440-2442)Cta>Tta	p.L814L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	814	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGGAAGATAGGCTATTTGCA	0.378000														77			19		0	0	0.00188189	0	0
IMPG2	50939	broad.mit.edu	37	3	101023106	101023106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:101023106G>A	uc003duq.2	-	2	588	c.385C>T	c.(385-387)Cct>Tct	p.P129S	IMPG2_uc011bhe.2_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	129					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCACGCCCAGGAAGTCGATCC	0.413000														23			12		0	0	0.00185496	0	0
OR8J1	219477	broad.mit.edu	37	11	56128056	56128056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56128056G>A	uc010rjh.2	+	0	366	c.334G>A	c.(334-336)Gta>Ata	p.V112I		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTATCGGAGGTAATCATGCT	0.463000														23			23		0	0	0.000878237	0	0
MUC17	140453	broad.mit.edu	37	7	100678869	100678869	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100678869C>A	uc003uxp.1	+	2	4225	c.4172C>A	c.(4171-4173)cCt>cAt	p.P1391H	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1391	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.N1390T(1)		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)					AACTCAAATCCTAGTGAAGGA	0.493000														99			163		6.97922e-69	2.56544e-68	0.000781405	1	0
ACER1	125981	broad.mit.edu	37	19	6312178	6312178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6312178G>A	uc002mel.2	-	2	410	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	111						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						CCCAAGGAAGGAGGGGAAATA	0.607000														26			24		0	0	0.000586117	0	0
TRIM25	7706	broad.mit.edu	37	17	54969163	54969163	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:54969163G>A	uc002iut.3	-	8	1851	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	TRIM25_uc010dcj.3_Silent_p.V389V|TRIM25_uc021uaj.1_5'Flank	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	597	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					ACATCAGGTGGACCTTGTCGG	0.552000														26			11		0	0	0.000978159	0	0
GLP2R	9340	broad.mit.edu	37	17	9783831	9783831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9783831C>T	uc002gmd.1	+	10	1282	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	428					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)	GAGCTCCTTTCATGTAAGTAG	0.403000														33			20		0	0	0.00152264	0	0
RRP15	51018	broad.mit.edu	37	1	218480849	218480849	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:218480849T>G	uc001hlj.3	+	3	610	c.580T>G	c.(580-582)Tct>Gct	p.S194A		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	194						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)		AGCTGGAAGTTCTATGAGAAA	0.368000														43			6		0	0	0.00116845	0	0
PPP6R3	55291	broad.mit.edu	37	11	68341637	68341637	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:68341637C>T	uc001onv.3	+	12	1671	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	PPP6R3_uc001onw.3_Silent_p.I468I|PPP6R3_uc001ony.4_Silent_p.I468I|PPP6R3_uc001onx.3_Silent_p.I468I|PPP6R3_uc009ysh.3_Silent_p.I417I|PPP6R3_uc001onu.3_Silent_p.I417I|PPP6R3_uc010rqc.2_Silent_p.I236I|PPP6R3_uc010rqd.2_Silent_p.I180I|PPP6R3_uc001onz.3_5'Flank	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	468					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						CTAACTGTATCGTGCACAGCA	0.448000														22			18		0	0	0.000958276	0	0
ASAP3	55616	broad.mit.edu	37	1	23768717	23768717	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:23768717G>A	uc001bha.2	-	6	757	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ASAP3_uc010odz.1_Silent_p.F80F|ASAP3_uc010oea.1_Silent_p.F202F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	211					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						GGCTCTGAAGGAAGTCAGGAC	0.557000														27			4		0	0	0.000602214	0	0
TSSC4	10078	broad.mit.edu	37	11	2424683	2424683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:2424683C>T	uc021qcg.1	+	0	820	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	TSSC4_uc001lwi.3_Missense_Mutation_p.H210Y|TSSC4_uc001lwk.3_Missense_Mutation_p.H274Y|TSSC4_uc001lwl.3_Missense_Mutation_p.H274Y	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	274			H -> P (in dbSNP:rs2234283).							endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGGGCAGCCACCATGGAGG	0.687000														66			61		0	0	0.000781405	0	0
ZNF45	7596	broad.mit.edu	37	19	44426436	44426436	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44426436A>C	uc002oxu.2	-	1	1	c.-98_splice	c.e1-1		ZNF45_uc002oxw.2_Intron	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CAAAAAAAAAACCATAGCTGT	0.403000														12			4		0	0	0.00024832	0	0
C9orf174	100499483	broad.mit.edu	37	9	100090419	100090419	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:100090419C>T	uc011lut.2	+	29	3334	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	C9orf174_uc004axe.2_Silent_p.I776I|C9orf174_uc011lus.2_Silent_p.I594I|C9orf174_uc004axg.2_Silent_p.I637I|C9orf174_uc004axh.2_5'Flank|C9orf174_uc010msm.1_Intron|C9orf174_uc004axf.3_Silent_p.I637I|C9orf174_uc011luv.1_Silent_p.I634I	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	776						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						TGCGTGAAATCTTTGAACAGG	0.478000														61			26		0	0	0.000878237	0	0
FOXE3	2301	broad.mit.edu	37	1	47882374	47882374	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47882374C>T	uc001crk.3	+	0	631	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_012186	NP_036318	Q13461	FOXE3_HUMAN	Homo sapiens forkhead box E3 (FOXE3), mRNA.	129					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	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			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACGACTGCTTCGTCAAGGTGC	0.642000														51			13		0	0	0.000308642	0	0
DFNB59	494513	broad.mit.edu	37	2	179325105	179325105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179325105G>A	uc002umi.4	+	5	1054	c.698G>A	c.(697-699)gGa>gAa	p.G233E	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.G233E	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	233					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCAAAAGGAGGATTTGAAAGG	0.328000														31			35		0	0	0.00148497	0	0
TEP1	7011	broad.mit.edu	37	14	20871883	20871883	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20871883G>A	uc001vxe.3	-	6	1234	c.1194_splice	c.e6+1	p.P398_splice	TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	398	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGACTGACTGGAGAGCGGGG	0.617000														52			23		0	0	0.000586117	0	0
NOC2L	26155	broad.mit.edu	37	1	888564	888564	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:888564G>A	uc009vjq.3	-	8	1052	c.993C>T	c.(991-993)ccC>ccT	p.P331P	NOC2L_uc001aby.4_Silent_p.P128P|NOC2L_uc001abz.4_Silent_p.P331P	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	331						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)		CCTTGAGGACGGGGCCAAGGA	0.607000														24			7		0	0	0.000157383	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72137929C>T	uc001xms.3	+	7	2710	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_uc001xmt.3_Silent_p.F783F|SIPA1L1_uc001xmu.3_Silent_p.F783F|SIPA1L1_uc001xmv.3_Silent_p.F783F|SIPA1L1_uc010ttm.2_Silent_p.F258F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	783	Rap-GAP.				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)		TCAGGGACTTCCTTTTGGCGA	0.498000														89			97		0	0	0.000781405	0	0
ABCC11	85320	broad.mit.edu	37	16	48250034	48250034	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48250034G>A	uc002eff.1	-	5	1292	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ABCC11_uc002efg.1_Silent_p.F314F|ABCC11_uc002efh.1_Silent_p.F314F|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.F314F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	314	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCGCCAGTGGGAAAACCAGGA	0.473000														83			24		0	0	0.000586117	0	0
ITGB8	3696	broad.mit.edu	37	7	20420314	20420314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:20420314C>T	uc003suu.3	+	4	1366	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	ITGB8_uc011jyh.2_Missense_Mutation_p.P86S|ITGB8_uc003sut.3_Missense_Mutation_p.P221S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	221	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGCATGCCTCCCCATGGATA	0.383000														94			21		0	0	0.00229938	0	0
EDNRA	1909	broad.mit.edu	37	4	148461043	148461043	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:148461043C>T	uc003iky.3	+	5	1505	c.975C>T	c.(973-975)agC>agT	p.S325S	EDNRA_uc011cid.2_Silent_p.S100S|EDNRA_uc010ipg.2_Silent_p.S216S|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	325					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)	TTCATTTAAGCCGTATATTGA	0.383000														82			43		0	0	0.00222228	0	0
IPO8	10526	broad.mit.edu	37	12	30833521	30833521	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30833521G>A	uc001rjd.3	-	4	882	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	178					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TACGAGGCAGGAATATCTGCA	0.353000														88			35		0	0	0.00148497	0	0
MUC16	94025	broad.mit.edu	37	19	9085246	9085246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9085246G>A	uc002mkp.3	-	0	6773	c.6569C>T	c.(6568-6570)tCt>tTt	p.S2190F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2190	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						GGAAACCAAAGACTCTGAAGT	0.463000														32			10		0	0	0.000673444	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611407	84611407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:84611407G>A	uc002bjz.4	+	17	2401	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R726Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	726	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCAGACCCGAGATGTGTAC	0.537000														41			10		0	0	0.000978159	0	0
C9orf71	169693	broad.mit.edu	37	9	71152294	71152294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:71152294C>T	uc004agt.3	-	1	447	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	AK130904_uc004ags.1_Non-coding_Transcript	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	132						integral to membrane				endometrium(1)|lung(2)|prostate(1)	4						TCCTGGAATTCCAGGCCCGTC	0.552000														32			18		0	0	0.000958276	0	0
CHD4	1108	broad.mit.edu	37	12	6710877	6710877	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6710877T>A	uc001qpo.3	-	4	658	c.494A>T	c.(493-495)cAc>cTc	p.H165L	CHD4_uc001qpn.3_Missense_Mutation_p.H158L|CHD4_uc001qpp.3_Missense_Mutation_p.H162L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	165					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGAGAACACGTGGTCAATGTC	0.512000														213			79		0	0	0.000781405	0	0
KRT14	3861	broad.mit.edu	37	17	39743049	39743049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39743049G>A	uc002hxf.2	-	0	99	c.38C>T	c.(37-39)tCc>tTc	p.S13F	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	13	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCCCTTCATGGAGCTGGAGGA	0.682000														4			3		0	0	0.000602214	0	0
FAM188A	80013	broad.mit.edu	37	10	15838110	15838110	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:15838110T>A	uc001iod.1	-	10	1165	c.944A>T	c.(943-945)tAc>tTc	p.Y315F	FAM188A_uc001ioe.1_Missense_Mutation_p.Y142F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	315					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TTCTGGGTCGTAGGTTTGAAA	0.358000														32			16		0	0	0.000422831	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270807	1270807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1270807C>T	uc002cks.3	+	34	7123	c.6875C>T	c.(6874-6876)tCc>tTc	p.S2292F	CACNA1H_uc002ckt.3_Missense_Mutation_p.S2286F|CACNA1H_uc002cku.3_Missense_Mutation_p.S987F|CACNA1H_uc010brj.3_Missense_Mutation_p.S1003F|CACNA1H_uc002ckv.3_Missense_Mutation_p.S981F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2292					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)	ACCCCAGAATCCAGAGCTTCC	0.637000														25			40		0	0	0.00128727	0	0
MAP9	79884	broad.mit.edu	37	4	156268978	156268978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156268978G>A	uc003ios.3	-	13	2165	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	MAP9_uc011cin.2_Missense_Mutation_p.P609L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	634					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)		AGGGCTCCACGGAGGAAGTGC	0.358000														6			4		0	0	0.000602214	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768610	31768610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:31768610C>T	uc002yoa.3	+	0	219	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	69	5 X 10 AA approximate repeats.					intermediate filament		p.S69S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAGACATCCTATGTGGAG	0.597000														19			41		0	0	0.00222228	0	0
OR4X2	119764	broad.mit.edu	37	11	48266932	48266932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48266932C>T	uc001ngs.1	+	0	277	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATGGCACAGCTTTTCTTCTT	0.517000														38			19		0	0	0.00188189	0	0
ASAH2	56624	broad.mit.edu	37	10	51974591	51974591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:51974591C>T	uc001jjd.3	-	7	1052	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	ASAH2_uc009xos.3_Missense_Mutation_p.G351E	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	351					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGACACATCTCCTAGGTTTGA	0.448000														1			11		0	0	0.00136819	0	0
SRCAP	10847	broad.mit.edu	37	16	30724869	30724869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30724869C>T	uc002dze.1	+	15	2715	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	SRCAP_uc021tgn.1_Missense_Mutation_p.P777L|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P634L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	777	Helicase ATP-binding.				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)			ACAGGAACTCCCTTGCAGAAC	0.512000														68			31		0	0	0.000953801	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763134	92763134	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:92763134C>T	uc003umh.1	-	4	3367	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K	SAMD9L_uc003umj.1_Silent_p.K717K|SAMD9L_uc003umi.1_Silent_p.K717K|SAMD9L_uc010lfb.1_Silent_p.K717K|SAMD9L_uc003umk.1_Silent_p.K717K|SAMD9L_uc010lfc.1_Silent_p.K717K|SAMD9L_uc010lfd.1_Silent_p.K717K|SAMD9L_uc022ahh.1_Silent_p.K717K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	717										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)			AATCTTTAAGCTTTTCATAAC	0.368000														18			26		0	0	0.000720815	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447642	96447642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96447642C>T	uc001kjv.4	+	1	610	c.284C>T	c.(283-285)tCt>tTt	p.S95F	CYP2C19_uc001kjw.4_Missense_Mutation_p.S95F|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	95					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)	GAGGAGTTTTCTGGAAGAGGA	0.458000														27			26		0	0	0.001512	0	0
PLCH1	23007	broad.mit.edu	37	3	155215207	155215207	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:155215207C>T	uc021xge.1	-	14	2038	c.1761_splice	c.e14-1	p.R587_splice	PLCH1_uc021xgd.1_Splice_Site_p.R587_splice|PLCH1_uc021xgf.1_Splice_Site_p.R569_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	587					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)			GCGACCCAATCTGTGAAGTAC	0.458000														42			21		0	0	0.00152264	0	0
KRT6A	3853	broad.mit.edu	37	12	52881884	52881884	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52881884C>T	uc001sam.3	-	7	1637	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	476	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)		CTTCGCCATTCAGCCTGTGGA	0.582000														35			17		0	0	0.00188189	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255455	15255455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:15255455G>A	uc001iob.3	-	7	2139	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	711						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCATCCAAGGAGACGAACCA	0.552000														36			29		0	0	0.00178596	0	0
MTMR1	8776	broad.mit.edu	37	X	149919206	149919206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:149919206C>T	uc004feh.1	+	13	1706	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L	MTMR1_uc011mya.1_Missense_Mutation_p.P422L|MTMR1_uc004fei.3_Missense_Mutation_p.P516L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	516	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAAGTTTCCTTCAGCATTC	0.328000														23			37		0	0	0.000814825	0	0
VAX2	25806	broad.mit.edu	37	2	71160080	71160080	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71160080C>T	uc002shh.3	+	2	651	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	207					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GACCCCTAGCCTGCCAGGCCT	0.697000														35			12		0	0	0.00185496	0	0
MARCH10	162333	broad.mit.edu	37	17	60814507	60814507	+	Missense_Mutation	SNP	C	T	T	rs17853369		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:60814507C>T	uc010dds.3	-	6	1121	c.836G>A	c.(835-837)gGa>gAa	p.G279E	MARCH10_uc010ddr.3_Missense_Mutation_p.G241E|MARCH10_uc002jag.4_Missense_Mutation_p.G241E|MARCH10_uc002jah.2_Missense_Mutation_p.G240E|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.	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTATTTTTTCCTTGGAAGGC	0.532000														163			40		0	0	0.000953801	0	0
SMOC1	64093	broad.mit.edu	37	14	70461188	70461188	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:70461188A>C	uc001xlt.2	+	6	937	c.655A>C	c.(655-657)Aga>Cga	p.R219R	SMOC1_uc001xls.2_Silent_p.R219R	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	219					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)		CACCAACATAAGAAATTCAGG	0.413000														118			43		0	0	0.00195071	0	0
ZNF831	128611	broad.mit.edu	37	20	57766491	57766491	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:57766491G>A	uc002yan.3	+	0	417	c.417G>A	c.(415-417)cgG>cgA	p.R139R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	139						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)					GCAAGGTGCGGAATGCGGGCA	0.672000														30			57		0	0	0.000781405	0	0
MYOM1	8736	broad.mit.edu	37	18	3102484	3102484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:3102484C>T	uc002klp.3	-	22	3897	c.3563G>A	c.(3562-3564)aGc>aAc	p.S1188N	MYOM1_uc002klq.3_Missense_Mutation_p.S1092N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1188	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle	p.E1187K(1)		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						GTTGCCCTTGCTTTCGACTTC	0.428000														227			53		0	0	0.000781405	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:111312580C>T	uc003dxy.3	-	1	1370	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	157							DNA binding|metal ion binding	p.R156R(1)		large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000														47			23		0	0	0.00106085	0	0
SDHC	6391	broad.mit.edu	37	1	161298193	161298193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161298193C>T	uc001gag.3	+	2	115	c.85C>T	c.(85-87)Cct>Tct	p.P29S	SDHC_uc001gah.3_Intron|SDHC_uc001gai.3_Missense_Mutation_p.P29S|SDHC_uc001gaj.3_Intron|SDHC_uc001gak.3_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	29					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TAGTGCTGTTCCTTTGGGAAC	0.368000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					120			63		0	0	0.000781405	0	0
CCT6A	908	broad.mit.edu	37	7	56126106	56126106	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:56126106C>T	uc003trl.1	+	6	941	c.777C>T	c.(775-777)ctC>ctT	p.L259L	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Silent_p.L214L|CCT6A_uc011kcu.1_Silent_p.L228L|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	259					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAAAAACTCGTGAAAGCTG	0.313000														70			13		0	0	0.00244969	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	C	C	rs59802947	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12887686T>C	uc001auk.2	-	2	367	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	57								p.R57R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000														437			11		0	0	0.00229938	0	0
LONP2	83752	broad.mit.edu	37	16	48290548	48290548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48290548C>T	uc002efi.1	+	2	585	c.496C>T	c.(496-498)Cct>Tct	p.P166S	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	166	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.P166R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGTCTGTCCCTGCAGTTGC	0.348000														76			24		0	0	0.00047179	0	0
NPR1	4881	broad.mit.edu	37	1	153659521	153659521	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:153659521G>A	uc001fcs.4	+	11	2314	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	NPR1_uc010pdz.2_Silent_p.L377L|NPR1_uc010pea.2_Silent_p.L109L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	631	Protein kinase.				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	p.L631M(1)		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)	GCATCACCCTGGACTGGATGT	0.562000														57			13		0	0	0.00074312	0	0
BTBD11	121551	broad.mit.edu	37	12	108008863	108008863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:108008863C>T	uc001tmk.1	+	6	2446	c.1925C>T	c.(1924-1926)cCa>cTa	p.P642L	BTBD11_uc009zut.1_Missense_Mutation_p.P642L|BTBD11_uc001tmj.3_Missense_Mutation_p.P642L|BTBD11_uc001tml.1_Missense_Mutation_p.P179L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	642						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						CATAAATATCCATCCGTCCAC	0.418000														38			11		0	0	0.000673444	0	0
SF3B4	10262	broad.mit.edu	37	1	149895580	149895580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149895580G>A	uc001etk.2	-	5	1622	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	377						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATCAGTGGAGGAGGTCCACGC	0.617000														64			17		0	0	0.00121646	0	0
CBLB	868	broad.mit.edu	37	3	105470439	105470439	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:105470439A>T	uc003dwc.3	-	4	912	c.590T>A	c.(589-591)tTc>tAc	p.F197Y	CBLB_uc011bhi.2_Missense_Mutation_p.F219Y|CBLB_uc003dwd.2_Missense_Mutation_p.F197Y|CBLB_uc003dwe.2_Missense_Mutation_p.F197Y|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	197	Cbl-PTB.|EF-hand-like.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCACTGTCTGAATACTTTCCA	0.373000			Mis S		AML									21			13		0	0	0.000566183	0	0
SOGA3	387104	broad.mit.edu	37	6	127796668	127796668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:127796668C>T	uc003qbd.3	-	5	3368	c.2503G>A	c.(2503-2505)Gac>Aac	p.D835N	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	835						integral to membrane											GTGCTCGTGTCGGCGATGAGC	0.672000														52			38		0	0	0.00222228	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669984	24669984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24669984G>A	uc001iru.4	+	2	944	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	KIAA1217_uc001irs.3_Missense_Mutation_p.E101K|KIAA1217_uc001irt.4_Missense_Mutation_p.E181K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E181K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E181K|KIAA1217_uc001irv.1_Missense_Mutation_p.E31K|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	181					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						CCAGACGAAAGAAAGATCTCT	0.478000														8			12		0	0	0.000978159	0	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23863047G>A	uc001wjv.3	-	21	2827	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(4)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000														78			28		0	0	0.000720815	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249705	140249705	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140249705C>T	uc003lia.2	+	0	1875	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	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_uc011dae.2_Silent_p.I339I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	355	Cadherin 3.				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)			GGGTGGAAATCTTGGACACCA	0.493000														17			30		0	0	0.00209593	0	0
AADACL4	343066	broad.mit.edu	37	1	12711266	12711266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12711266C>T	uc001auf.3	+	1	293	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	98						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGACGATACCCGTGAGGCTG	0.522000														61			17		0	0	0.000958276	0	0
TMEM176B	28959	broad.mit.edu	37	7	150491073	150491073	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150491073G>A	uc022apx.1	-	1	417	c.291C>T	c.(289-291)ggC>ggT	p.G97G	TMEM176B_uc003whu.4_Silent_p.G97G|TMEM176B_uc003whv.4_Intron|TMEM176B_uc003whw.4_Silent_p.G97G	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	97					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAAGGCACAGCCTGAGGCAC	0.567000														124			27		0	0	0.00127121	0	0
GPR149	344758	broad.mit.edu	37	3	154147234	154147234	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154147234G>A	uc003faa.3	-	0	271	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	57						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCAGCAGGGAAATTAGTG	0.443000														53			21		0	0	0.00152264	0	0
KLK10	5655	broad.mit.edu	37	19	51518107	51518107	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51518107G>A	uc002pva.3	-	5	900	c.780C>T	c.(778-780)acC>acT	p.T260T	KLK10_uc002puy.3_Silent_p.T260T|KLK10_uc002puz.3_Silent_p.T260T	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	260	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCAGATCTGGGTGTAGACAG	0.547000														87			23		0	0	0.00229938	0	0
KIF21B	23046	broad.mit.edu	37	1	200972830	200972830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200972830G>A	uc001gvs.2	-	7	1413	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	KIF21B_uc009wzl.2_Missense_Mutation_p.R366W|KIF21B_uc001gvr.2_Missense_Mutation_p.R366W|KIF21B_uc010ppn.2_Missense_Mutation_p.R366W|KIF21B_uc001gvt.1_Missense_Mutation_p.R224W	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	366					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R366W(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						TTGCGGGCCCGATTGGCATAT	0.552000														68			44		0	0	0.000680045	0	0
ASTN2	23245	broad.mit.edu	37	9	119858380	119858380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:119858380C>T	uc004bjt.2	-	3	1167	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	ASTN2_uc022bml.1_Missense_Mutation_p.D56N|ASTN2_uc022bmm.1_Missense_Mutation_p.D56N	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	407						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGAGTTTCATCGTCTGCCTCT	0.527000														41			9		0	0	0.000442599	0	0
SNTG2	54221	broad.mit.edu	37	2	1204876	1204876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1204876G>A	uc002qwq.3	+	8	808	c.679G>A	c.(679-681)Gct>Act	p.A227T	SNTG2_uc010ewi.3_Missense_Mutation_p.A100T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	227					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCTGTCCATGGCTCGCATCTC	0.527000														143			32		0	0	0.00283554	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519909	113519909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:113519909C>T	uc010ljy.1	-	3	1269	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	413					glycogen metabolic process	integral to membrane		p.G413G(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						CTTGATTTCTCCCATATTTGA	0.403000														57			15		0	0	0.00074312	0	0
TCL1B	9623	broad.mit.edu	37	14	96152929	96152929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96152929C>T	uc001yfa.3	+	0	176	c.125C>T	c.(124-126)tCg>tTg	p.S42L	TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.S42L	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	42								p.S42S(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCAATCCCTCGCGTAGGGAA	0.672000														36			15		0	0	0.00244969	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688741	30688741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30688741G>A	uc010gvu.3	-	8	1256	c.1171C>T	c.(1171-1173)Ccg>Tcg	p.P391S	TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc003ahk.4_Missense_Mutation_p.P384S	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	384						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGCCTGGGCGGGGAGCGGCAC	0.657000														35			54		0	0	0.000781405	0	0
SPEF2	79925	broad.mit.edu	37	5	35779244	35779244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35779244C>T	uc003jjo.3	+	29	4354	c.4243C>T	c.(4243-4245)Cgc>Tgc	p.R1415C	SPEF2_uc003jjp.1_Missense_Mutation_p.R901C|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1415					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)			TGACGTAGCTCGCTATCACAT	0.323000														22			9		0	0	0.000673444	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069009	40069009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40069009G>A	uc003ayc.3	+	27	4705	c.4705G>A	c.(4705-4707)Gag>Aag	p.E1569K	CACNA1I_uc003ayd.3_Missense_Mutation_p.E1534K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1484K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1449K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1569					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)	CATCACCCTGGAGGAGATCGA	0.602000														88			77		0	0	0.000781405	0	0
COL17A1	1308	broad.mit.edu	37	10	105824202	105824202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105824202C>T	uc001kxr.3	-	9	929	c.760G>A	c.(760-762)Gga>Aga	p.G254R	COL17A1_uc010qqv.1_Missense_Mutation_p.G238R|COL17A1_uc009xxp.1_Missense_Mutation_p.G254R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	254	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTACCTGATCCCGCAGAGTAG	0.597000														10			16		0	0	0.00074312	0	0
FAT2	2196	broad.mit.edu	37	5	150945775	150945775	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150945775G>A	uc003lue.4	-	0	2731	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	FAT2_uc010jhx.1_Silent_p.F906F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	906	Cadherin 7.				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)			CAGTGACAGAGAAGAGCTGGT	0.552000														28			8		0	0	0.000274275	0	0
GJA3	2700	broad.mit.edu	37	13	20716813	20716813	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:20716813G>A	uc001umx.1	-	1	787	c.615C>T	c.(613-615)atC>atT	p.I205I	GJA3_uc021rgz.1_Silent_p.I205I	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	205					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCAGCATGAAGATGATGAAGA	0.632000														25			17		0	0	0.000566183	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:57896476G>A	uc003hcl.1	+	23	3389	c.3346G>A	c.(3346-3348)Gtt>Att	p.V1116I	POLR2B_uc011cae.1_Missense_Mutation_p.V1109I|POLR2B_uc011caf.1_Missense_Mutation_p.V1041I|POLR2B_uc003hcm.1_Missense_Mutation_p.V609I	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(4)|p.V1116I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000														26			33		0	0	0.00283554	0	0
DCHS1	8642	broad.mit.edu	37	11	6650991	6650991	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:6650991G>A	uc001mem.1	-	10	5348	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1649	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCTGCTGGAAAGTAGGCG	0.642000														16			14		0	0	0.000308642	0	0
CAPN13	92291	broad.mit.edu	37	2	30966359	30966359	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30966359G>A	uc021vfn.1	-	11	1367	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.F441F|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	445					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)					AAGTCATGGTGAAGTTGCGGC	0.468000														196			62		0	0	0.000781405	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338312	28338312	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:28338312C>T	uc002ymg.3	-	0	1128	c.399G>A	c.(397-399)cgG>cgA	p.R133R		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	133					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R133Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACTGTGCCCCGATAGAAGC	0.657000														21			13		0	0	0.00136819	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999685	46999685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46999685G>A	uc001jec.3	+	2	940	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	GPRIN2_uc021ppt.1_Missense_Mutation_p.G269R	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	269										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGCGAGTCTGGGCTGCAGGC	0.627000														90			20		0	0	0.00152264	0	0
GHITM	27069	broad.mit.edu	37	10	85901294	85901294	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:85901294C>G	uc001kcs.1	+	1	242	c.38C>G	c.(37-39)cCt>cGt	p.P13R	GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	13					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CGGACACTACCTTCTAGGGTT	0.483000														22			12		0	0	0.00185496	0	0
MYH8	4626	broad.mit.edu	37	17	10300146	10300146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10300146C>T	uc002gmm.2	-	30	4431	c.4336G>A	c.(4336-4338)Gat>Aat	p.D1446N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1446					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						TGCTTCTTATCAAGGGCTGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					32			31		0	0	0.0024448	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127850	108127850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:108127850C>T	uc004bcn.3	+	10	1561	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	SLC44A1_uc004bco.1_Missense_Mutation_p.S239F	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	447						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAAAAGGATCTTTCATTATC	0.363000														79			23		0	0	0.00229938	0	0
TNXB	7148	broad.mit.edu	37	6	32038147	32038147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32038147C>T	uc003nzl.2	-	13	5237	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1761	Fibronectin type-III 9.				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						ACCCACAGCTCCCCAAGGCGG	0.582000														50			47		0	0	0.000781405	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7672110	7672110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:7672110C>T	uc001mfj.4	+	21	2549	c.2161C>T	c.(2161-2163)Cac>Tac	p.H721Y	PPFIBP2_uc010rbb.1_Missense_Mutation_p.H644Y|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.H655Y|PPFIBP2_uc010rbe.2_Missense_Mutation_p.H609Y|PPFIBP2_uc001mfl.4_Missense_Mutation_p.H578Y|PPFIBP2_uc009yfj.1_Missense_Mutation_p.H365Y	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	721	SAM 3.				DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGGTCCAACCACAGGGTGAT	0.522000														33			32		0	0	0.00283554	0	0
SRPX2	27286	broad.mit.edu	37	X	99922337	99922337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:99922337G>A	uc004egb.3	+	8	1508	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	343					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GAGAAACAGCGACTCCTCATC	0.478000														32			27		0	0	0.00178596	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900195	151900195	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151900195C>T	uc022chj.1	-	0	606	c.606G>A	c.(604-606)ctG>ctA	p.L202L	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.L202L|MAGEA12_uc022chi.1_Silent_p.L202L|MAGEA12_uc004fgc.3_Silent_p.L202L	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	202	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGACGATTATCAGGAGGCCTG	0.582000														62			56		0	0	0.000781405	0	0
GAA	2548	broad.mit.edu	37	17	78092138	78092138	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:78092138C>T	uc002jxp.3	+	17	2995	c.2628C>T	c.(2626-2628)gtC>gtT	p.V876V	GAA_uc002jxo.3_Silent_p.V876V|GAA_uc002jxq.3_Silent_p.V876V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	876					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACACACAGGTCATCTTCCTGG	0.672000														81			25		0	0	0.000720815	0	0
SHANK1	50944	broad.mit.edu	37	19	51219543	51219543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51219543G>A	uc002psx.1	-	1	467	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	150					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGGTAGGGGACCCCCTTC	0.582000														74			20		0	0	0.000958276	0	0
RXFP1	59350	broad.mit.edu	37	4	159529150	159529150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:159529150C>T	uc003ipz.3	+	5	754	c.491C>T	c.(490-492)tCc>tTc	p.S164F	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_Missense_Mutation_p.S32F|RXFP1_uc011cja.2_Missense_Mutation_p.S83F|RXFP1_uc010iqo.3_Missense_Mutation_p.S164F|RXFP1_uc011cjb.2_Missense_Mutation_p.S110F|RXFP1_uc011cjc.2_Missense_Mutation_p.S83F|RXFP1_uc011cjd.2_Missense_Mutation_p.S83F|RXFP1_uc010iql.3_Missense_Mutation_p.S32F|RXFP1_uc011cje.2_Missense_Mutation_p.S191F|RXFP1_uc010iqm.3_Missense_Mutation_p.S131F|RXFP1_uc011cjf.2_Missense_Mutation_p.S34F|RXFP1_uc010iqn.3_Missense_Mutation_p.S110F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	164						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAGATTACATCCATCTCCATC	0.353000														26			34		0	0	0.000814825	0	0
GJB5	2709	broad.mit.edu	37	1	35223641	35223641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35223641C>T	uc001bxu.3	+	1	810	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GJB5_uc021okz.1_Missense_Mutation_p.S237F|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	237					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ACCACCTCTTCCTGCAAACAA	0.557000														69			35		0	0	0.000953801	0	0
GRIA1	2890	broad.mit.edu	37	5	153029980	153029980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:153029980G>A	uc011dcy.2	+	3	608	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA1_uc003lva.4_Missense_Mutation_p.G184E|GRIA1_uc003luy.4_Missense_Mutation_p.G184E|GRIA1_uc003luz.4_Missense_Mutation_p.G89E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G104E|GRIA1_uc011dcx.2_Missense_Mutation_p.G115E|GRIA1_uc011dcz.2_Missense_Mutation_p.G194E|GRIA1_uc010jia.1_Missense_Mutation_p.G164E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	184					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.E193E(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)	ACAGAGGAGGGATACCGGATG	0.512000														36			23		0	0	0.000586117	0	0
PGK2	5232	broad.mit.edu	37	6	49753833	49753833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:49753833C>T	uc003ozu.3	-	0	1221	c.1068G>A	c.(1066-1068)atG>atA	p.M356I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	356					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)					CAATTTCATCCATGAGGGCTT	0.463000														25			18		0	0	0.00121646	0	0
TPR	7175	broad.mit.edu	37	1	186294972	186294972	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186294972A>G	uc001grv.3	-	41	6333	c.6036T>C	c.(6034-6036)acT>acC	p.T2012T	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2012					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TACCTGGATCAGTCCCATCAC	0.363000			T	NTRK1	papillary thyroid									27			34		0	0	0.00058488	0	0
MYH2	4620	broad.mit.edu	37	17	10432385	10432385	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10432385C>T	uc010coi.3	-	26	3494	c.3366G>A	c.(3364-3366)gaG>gaA	p.E1122E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1122E|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.	1122					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1122Q(1)		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						CCTCCAGCTCCTCAATGCGGG	0.552000														15			12		0	0	0.00185496	0	0
TAF1L	138474	broad.mit.edu	37	9	32631485	32631485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:32631485G>A	uc003zrg.1	-	0	4183	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S	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.	1365					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)		TGCTGTTTAGGAAACTTGAGA	0.438000														64			88		0	0	0.000781405	0	0
CYFIP2	26999	broad.mit.edu	37	5	156760402	156760402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156760402C>T	uc021ygm.1	+	20	2468	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	CYFIP2_uc011ddn.2_Missense_Mutation_p.S752F|CYFIP2_uc011ddo.2_Missense_Mutation_p.S582F|CYFIP2_uc021ygn.1_Missense_Mutation_p.S777F|CYFIP2_uc021ygo.1_Missense_Mutation_p.S777F|CYFIP2_uc003lwt.3_Missense_Mutation_p.S681F|CYFIP2_uc011ddp.2_Missense_Mutation_p.S512F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	803					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGTATAAATCCTTGGACCAA	0.473000														295			141		0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10358326	10358326	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10358326G>A	uc002gmn.3	-	20	2478	c.2367C>T	c.(2365-2367)atC>atT	p.I789I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	789	IQ.				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						GAGTGCGCGTGATGAGTTGAG	0.458000														29			22		0	0	0.00229938	0	0
HELQ	113510	broad.mit.edu	37	4	84352866	84352866	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:84352866T>G	uc003hom.3	-	10	2425	c.2246A>C	c.(2245-2247)gAa>gCa	p.E749A	HELQ_uc010ikb.3_Missense_Mutation_p.E682A|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	749	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTGGTGAATTCCTGAACAAG	0.303000								Other identified genes with known or suspected DNA repair function						42			13		0	0	0.00074312	0	0
DNAH7	56171	broad.mit.edu	37	2	196681528	196681528	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196681528C>T	uc002utj.4	-	50	9686	c.9585G>A	c.(9583-9585)aaG>aaA	p.K3195K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3195					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3195N(2)		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						TGGTGTCAATCTTTTTCTCTG	0.418000														57			47		0	0	0.000781405	0	0
ZNF638	27332	broad.mit.edu	37	2	71655768	71655768	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71655768C>T	uc002shx.3	+	24	5960	c.5637C>T	c.(5635-5637)ttC>ttT	p.F1879F	ZNF638_uc002shz.3_Silent_p.F1879F|ZNF638_uc002shy.3_Silent_p.F1879F|ZNF638_uc002sia.3_Silent_p.F1879F|ZNF638_uc002sic.3_Silent_p.F976F|ZNF638_uc002sid.3_Silent_p.F248F	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1879					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						AAGAGGCCTTCCAGATGAGTG	0.388000														105			43		0	0	0.00195071	0	0
TKTL2	84076	broad.mit.edu	37	4	164394221	164394221	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164394221C>T	uc003iqp.4	-	0	827	c.666G>A	c.(664-666)gtG>gtA	p.V222V		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	222						cytoplasm	metal ion binding|transketolase activity			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)				ACAAGGCCTCCACATCATGGC	0.483000														68			35		0	0	0.00111076	0	0
AFP	174	broad.mit.edu	37	4	74303947	74303947	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:74303947A>T	uc003hgz.1	+	2	241	c.194A>T	c.(193-195)aAa>aTa	p.K65I		NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	65	Albumin 1.				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)			GAAGTAAGCAAAATGGTGAAA	0.393000									Alpha-Fetoprotein, Hereditary Persistence of					29			16		0	0	0.000422831	0	0
PCK1	5105	broad.mit.edu	37	20	56137137	56137137	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:56137137C>G	uc002xyn.4	+	2	398	c.235C>G	c.(235-237)Ctc>Gtc	p.L79V	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	79					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGGTTGGCTCTCACTGACCC	0.557000														16			33		0	0	0.00283554	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818223	146818223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:146818223G>A	uc003weu.2	+	5	1423	c.907G>A	c.(907-909)Gga>Aga	p.G303R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	303	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGTACCAATGGAGAGTTTGA	0.473000										HNSCC(39;0.1)				71			15		0	0	0.000566183	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902464	52902464	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:52902464C>T	uc001cty.2	-	25	4378	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	ZCCHC11_uc001ctx.2_Silent_p.E1374E	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1374					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCAGCTTGACCTCTGGGCACT	0.488000														186			153		0	0	0.000781405	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730571	173730571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:173730571C>T	uc003isv.3	+	5	1349	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	205	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGGATTGTTCGCACCAAGAA	0.478000														36			12		0	0	0.000422831	0	0
RIMS2	9699	broad.mit.edu	37	8	105260975	105260975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:105260975G>A	uc003yls.3	+	24	3818	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	RIMS2_uc003ylp.3_Missense_Mutation_p.D1175N|RIMS2_uc003ylw.2_Missense_Mutation_p.D1182N|RIMS2_uc003ylq.3_Missense_Mutation_p.D989N|RIMS2_uc003ylr.3_Missense_Mutation_p.D1014N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1237					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)			CCAGTTCAGTGATTTCCTGGA	0.458000										HNSCC(12;0.0054)				73			17		0	0	0.00278032	0	0
PDCD11	22984	broad.mit.edu	37	10	105174058	105174058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105174058C>T	uc001kwy.1	+	10	1429	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	448					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTTAGATATCATGACATCGA	0.438000														15			8		0	0	0.000442599	0	0
COL13A1	1305	broad.mit.edu	37	10	71690233	71690233	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:71690233G>A	uc001jql.3	+	28	2111	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	COL13A1_uc021prz.1_Silent_p.V503V|COL13A1_uc021psa.1_Silent_p.V468V|COL13A1_uc021psb.1_Silent_p.V474V|COL13A1_uc001jqk.2_Silent_p.V503V|COL13A1_uc021psc.1_Silent_p.V506V|COL13A1_uc021psd.1_Silent_p.V503V|COL13A1_uc010qjf.2_Silent_p.V468V|COL13A1_uc021pse.1_Silent_p.V474V|COL13A1_uc021psf.1_Silent_p.V525V|COL13A1_uc021psg.1_Silent_p.V503V|COL13A1_uc021psh.1_Silent_p.V506V	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	525	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)	CTCCAGGAGTGAAGGGAGAAA	0.602000														6			13		0	0	0.00136819	0	0
F8	2157	broad.mit.edu	37	X	154175986	154175986	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:154175986C>T	uc004fmt.3	-	12	2271	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S700L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTTTTCCATCGACATGAAGA	0.413000														52			40		0	0	0.000781405	0	0
ALKBH2	121642	broad.mit.edu	37	12	109527987	109527987	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109527987G>A	uc001tnx.2	-	2	699	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ALKBH2_uc001tny.2_Silent_p.F102F|ALKBH2_uc010sxj.1_Silent_p.F102F|ALKBH2_uc009zvd.2_Intron|ALKBH2_uc010sxk.1_Intron	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	102	Substrate binding.				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)	GCCACTTCCCGAATACCTGGA	0.582000								Direct reversal of damage						20			30		0	0	0.0024448	0	0
DDX41	51428	broad.mit.edu	37	5	176941768	176941768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:176941768G>A	uc003mho.3	-	8	890	c.869C>T	c.(868-870)cCa>cTa	p.P290L	DDX41_uc003mhn.3_Missense_Mutation_p.P159L|DDX41_uc003mhp.3_Missense_Mutation_p.P159L|DDX41_uc003mhq.1_Missense_Mutation_p.P70L	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	290	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCGCAGGAGTGGTGAGCTGTC	0.657000														68			41		0	0	0.00222228	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74907720	74907720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:74907720G>A	uc001owb.3	+	9	1990	c.1595G>A	c.(1594-1596)aGc>aAc	p.S532N	SLCO2B1_uc010rrq.2_Missense_Mutation_p.S277N|SLCO2B1_uc010rrr.2_Missense_Mutation_p.S388N|SLCO2B1_uc010rrs.2_Missense_Mutation_p.S416N|SLCO2B1_uc001owc.3_Missense_Mutation_p.S305N|SLCO2B1_uc001owd.3_Missense_Mutation_p.S510N	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	532	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTGGACAACAGCCAGGTGAGT	0.602000														14			8		0	0	0.000157383	0	0
LGR5	8549	broad.mit.edu	37	12	71946912	71946912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:71946912C>T	uc001swl.3	+	4	536	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR5_uc001swm.3_Missense_Mutation_p.S163F|LGR5_uc021rar.1_Intron|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	163						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCCTGCATTCCCTGAGGCAC	0.507000														228			93		0	0	0.000781405	0	0
EEF2K	29904	broad.mit.edu	37	16	22255972	22255972	+	Nonsense_Mutation	SNP	C	T	T	rs137985480		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:22255972C>T	uc002dki.3	+	2	753	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	90					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			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)		GCACGCAATCCAGAAGGCCAA	0.597000														20			20		0	0	0.00229938	0	0
AFF2	2334	broad.mit.edu	37	X	148038032	148038032	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:148038032C>T	uc004fcp.3	+	10	2936	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	AFF2_uc004fcq.3_Silent_p.L809L|AFF2_uc004fcr.3_Silent_p.L780L|AFF2_uc011mxb.2_Silent_p.L784L|AFF2_uc004fcs.3_Silent_p.L786L|AFF2_uc011mxc.2_Silent_p.L460L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	819					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTCACTCCATGCAGCAC	0.532000														40			33		0	0	0.00283554	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521762	85521762	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:85521762A>T	uc001tac.3	+	17	4271	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1387										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)		AAAAGAGAAAATATTGTGAAT	0.348000														45			56		0	0	0.000781405	0	0
SARDH	1757	broad.mit.edu	37	9	136599167	136599167	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:136599167C>T	uc004cep.4	-	1	263	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SARDH_uc004ceo.3_Silent_p.Q43Q|SARDH_uc011mdo.2_Intron|SARDH_uc011mdn.2_Silent_p.Q43Q	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	43					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAGGGTCCGCTGATATGGCA	0.687000														49			11		0	0	0.00136819	0	0
KCNH1	3756	broad.mit.edu	37	1	210970967	210970967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:210970967C>T	uc001hib.2	-	8	1968	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M	KCNH1_uc001hic.2_Missense_Mutation_p.V573M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	600					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.T599M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCACAGTGCACCGTCTGGAAC	0.607000														78			15		0	0	0.00244969	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037683	14037683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:14037683C>T	uc002mxo.2	+	19	2422	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	CC2D1A_uc002mxp.2_Missense_Mutation_p.P708L|CC2D1A_uc010dzh.2_Missense_Mutation_p.P277L|CC2D1A_uc002mxq.1_Missense_Mutation_p.P353L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	708	C2.				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)			ACAGACTCCCCTGGTGAGCCT	0.562000														48			18		0	0	0.00152264	0	0
PARP8	79668	broad.mit.edu	37	5	50056193	50056193	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:50056193G>A	uc003jon.4	+	5	524	c.342G>A	c.(340-342)ggG>ggA	p.G114G	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Silent_p.G114G|PARP8_uc003jop.3_Silent_p.G114G	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	114						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGAAAATGGGGAGGTATGTA	0.229000														12			7		0	0	0.000157383	0	0
PRSS1	5644	broad.mit.edu	37	7	142460770	142460771	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142460770_142460771TC>GT	uc003wak.2	+	4	660_661	c.643_644TC>GT	c.(643-645)tcc>GTc	p.S215V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S155V	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	215	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGGAGTTGTCTCCTGGGGTGAT	0.500000														100			19		0	0	6.4e-05	0	0
NUDT14	256281	broad.mit.edu	37	14	105639473	105639473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105639473G>A	uc010tyn.2	-	4	668	c.554C>T	c.(553-555)cCc>cTc	p.P185L	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	185	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCCTTCCAGGGGCAGGTGCAC	0.627000										HNSCC(42;0.11)				39			6		0	0	0.00198382	0	0
BBS12	166379	broad.mit.edu	37	4	123663614	123663614	+	Silent	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123663614T>G	uc021xrm.1	+	2	948	c.567T>G	c.(565-567)ctT>ctG	p.L189L	BBS12_uc003ieu.3_Silent_p.L189L|BBS12_uc021xrn.1_Silent_p.L189L	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	189					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTCCAACCTTTCTGGGAGAC	0.403000									Bardet-Biedl syndrome					49			22		0	0	0.00229938	0	0
OR10K1	391109	broad.mit.edu	37	1	158435611	158435611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158435611C>T	uc010pij.2	+	0	260	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GACCTGCTGTCCCAGAAGAAG	0.488000														139			27		0	0	0.00127121	0	0
PARP8	79668	broad.mit.edu	37	5	50091143	50091143	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:50091143C>T	uc003jon.4	+	12	1502	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	PARP8_uc011cpz.2_Silent_p.S332S|PARP8_uc003joo.3_Silent_p.S440S|PARP8_uc003jop.3_Silent_p.S440S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	440						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CCAAGTCATCCAAAACTGAGC	0.438000														19			27		0	0	0.00127121	0	0
TRIM55	84675	broad.mit.edu	37	8	67062607	67062607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67062607G>A	uc003xvv.3	+	6	1117	c.891G>A	c.(889-891)atG>atA	p.M297I	TRIM55_uc003xvu.3_Missense_Mutation_p.M297I|TRIM55_uc003xvw.3_Missense_Mutation_p.M297I|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	297	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CATTTCAGATGGAGAAAATAG	0.378000														31			18		0	0	0.000958276	0	0
LILRB2	10288	broad.mit.edu	37	19	54782143	54782143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54782143G>A	uc002qfb.3	-	6	1495	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.P410L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P410L|LILRB2_uc010yet.2_Missense_Mutation_p.P294L|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	410	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.P410P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTCACTGGGGTGAGACAG	0.637000														62			21		0	0	0.00152264	0	0
XIST	7503	broad.mit.edu	37	X	73072305	73072305	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73072305C>T	uc004ebm.1	-	0		c.284G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGAAAAATTCCTTAAATATTA	0.308000														0			9		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179648929	179648929	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179648929G>A	uc021vsy.1	-	15	2868	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	TTN_uc021vsz.1_Silent_p.F835F|TTN_uc021vta.1_Silent_p.F835F|TTN_uc021vtb.1_Silent_p.F835F|TTN_uc002unb.2_Silent_p.F881F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	881							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F835L(3)|p.F881L(3)		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)			CAGCGAAGGGGAACTGTGGCA	0.537000														52			13		0	0	0.00185496	0	0
SETBP1	26040	broad.mit.edu	37	18	42532125	42532125	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:42532125G>A	uc010dni.3	+	3	3116	c.2820G>A	c.(2818-2820)agG>agA	p.R940R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	940						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCACAAGAGGAAACGGAAAA	0.527000									Schinzel-Giedion syndrome					62			22		0	0	0.00229938	0	0
TBX5	6910	broad.mit.edu	37	12	114836398	114836398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:114836398G>A	uc001tvo.3	-	4	985	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	TBX5_uc001tvp.3_Missense_Mutation_p.H164Y|TBX5_uc001tvq.3_Missense_Mutation_p.H114Y|TBX5_uc010syv.2_Missense_Mutation_p.H164Y	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	164					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTCCAGGTGGTTGTTGGTG	0.602000														17			8		0	0	0.000274275	0	0
TESK2	10420	broad.mit.edu	37	1	45820995	45820995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:45820995G>A	uc001cns.1	-	4	923	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	TESK2_uc009vxr.1_Missense_Mutation_p.H174Y|TESK2_uc010olo.1_Missense_Mutation_p.H91Y|TESK2_uc009vxs.1_5'UTR	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	174	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGGTCCCGATGAAAAATGCCT	0.443000														35			11		0	0	0.000978159	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083116	9083116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:9083116C>T	uc009vmo.1	-	2	172	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	58						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.E58K(4)|p.N57N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AAGTAGGTTTCGTTGTAAAAT	0.483000														93			70		0	0	0.000781405	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258223	45258223	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:45258223G>A	uc003bfd.3	+	16	1957	c.1680G>A	c.(1678-1680)ttG>ttA	p.L560L	PRR5-ARHGAP8_uc011aqi.2_Silent_p.L472L|PRR5-ARHGAP8_uc011aqj.2_Silent_p.L403L|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Silent_p.L381L|PRR5-ARHGAP8_uc003bfk.3_Silent_p.L350L|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GGCTGAATTTGATCTGGCCAT	0.522000														33			67		0	0	0.000781405	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586888	42586888	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:42586888C>T	uc003xpi.1	+	4	566	c.438C>T	c.(436-438)ccC>ccT	p.P146P		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)			GGACCCCTCCCGCCAGCTACA	0.532000														17			18		0	0	0.00121646	0	0
PCDP1	200373	broad.mit.edu	37	2	120369265	120369265	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:120369265C>T	uc002tmb.3	+	13	1512	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	PCDP1_uc010yyq.2_Nonsense_Mutation_p.Q264*	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	420						cilium	calmodulin binding					Colorectal(110;0.196)					TGAGGAATTTCAGCGACTTAA	0.333000														58			12		0	0	0.00244969	0	0
CTNND2	1501	broad.mit.edu	37	5	11159724	11159724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:11159724G>A	uc003jfa.1	-	11	2268	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L	CTNND2_uc010itt.2_Missense_Mutation_p.S617L|CTNND2_uc011cmy.1_Missense_Mutation_p.S371L|CTNND2_uc011cmz.1_Missense_Mutation_p.S275L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S275L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	708					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACCTGTGATGAATGCAGCTG	0.557000														33			48		0	0	0.000781405	0	0
KRT5	3852	broad.mit.edu	37	12	52913943	52913943	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52913943G>A	uc001san.3	-	0	301	c.138C>T	c.(136-138)ttC>ttT	p.F46F	KRT5_uc009zmh.3_Silent_p.F46F	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	46	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.F46F(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGACCCTGCCGAAGCCACCAC	0.652000														27			15		0	0	0.000308642	0	0
LGR6	59352	broad.mit.edu	37	1	202287144	202287144	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:202287144C>T	uc001gxu.3	+	17	1713	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	LGR6_uc001gxv.3_Silent_p.I519I|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.I432I	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	571						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTGGGCCATCGTGTTGCTCT	0.612000														132			25		0	0	0.000586117	0	0
C11orf82	220042	broad.mit.edu	37	11	82625887	82625887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:82625887C>T	uc001ozt.3	+	2	351	c.107C>T	c.(106-108)tCc>tTc	p.S36F	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.S36F	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	36					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATCCTGGTCTCCAAAAGGTAA	0.388000														13			8		0	0	0.000274275	0	0
ASIC3	9311	broad.mit.edu	37	7	150749682	150749682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150749682C>T	uc003wio.2	+	10	1927	c.1559C>T	c.(1558-1560)cCg>cTg	p.P520L	ASIC3_uc003win.2_Silent_p.A513A|ASIC3_uc003wip.2_Missense_Mutation_p.R494C|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	508					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTCCCTGTGCCGTCACCAAGA	0.632000														64			30		0	0	0.00127121	0	0
MUC16	94025	broad.mit.edu	37	19	9074153	9074153	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9074153G>A	uc002mkp.3	-	2	13497	c.13293C>T	c.(13291-13293)ctC>ctT	p.L4431L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4433	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						CTTTGCTTATGAGAGTGGTCT	0.488000														104			26		0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13759068	13759068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13759068G>A	uc003jfd.2	-	60	10348	c.10306C>T	c.(10306-10308)Cgc>Tgc	p.R3436C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGAGATGGCGATTCTCTTGC	0.547000									Kartagener syndrome					92			36		0	0	0.00170553	0	0
TYK2	7297	broad.mit.edu	37	19	10467345	10467345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:10467345G>A	uc002moc.4	-	17	2894	c.2516C>T	c.(2515-2517)cCa>cTa	p.P839L	TYK2_uc010dxe.3_Missense_Mutation_p.P654L	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	839	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGCCAGCTGTGGGCAGGAGGG	0.637000														15			4		0	0	0.000602214	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270521	1270521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1270521C>T	uc002cks.3	+	34	6837	c.6589C>T	c.(6589-6591)Cct>Tct	p.P2197S	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2191S|CACNA1H_uc002cku.3_Missense_Mutation_p.P892S|CACNA1H_uc010brj.3_Missense_Mutation_p.P908S|CACNA1H_uc002ckv.3_Missense_Mutation_p.P886S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2197					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)	GGTGGAACCCCCTGCGGAGGA	0.721000														37			13		0	0	0.000566183	0	0
OR4X1	390113	broad.mit.edu	37	11	48285953	48285953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48285953C>T	uc010rht.2	+	0	541	c.541C>T	c.(541-543)Cca>Tca	p.P181S		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGATGTCCACCCAGTGCTGGA	0.567000														15			8		0	0	0.000673444	0	0
REPS2	9185	broad.mit.edu	37	X	17065603	17065603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:17065603C>T	uc004cxv.1	+	5	1076	c.905C>T	c.(904-906)tCa>tTa	p.S302L	REPS2_uc004cxw.1_Missense_Mutation_p.S301L|REPS2_uc011miw.1_Missense_Mutation_p.S161L	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	302	EH 2.				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)					TCTTTCATTTCAGGTAAGAAT	0.483000														3			65		0	0	0.000781405	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255124	9255124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:9255124C>T	uc002knv.3	+	8	2123	c.1859C>T	c.(1858-1860)tCa>tTa	p.S620L	ANKRD12_uc002knw.3_Missense_Mutation_p.S597L|ANKRD12_uc002knx.3_Missense_Mutation_p.S597L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S327L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	620						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGTGAAAAATCAAATGCCAAA	0.294000														76			44		0	0	0.00285205	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413430	50413430	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:50413430G>A	uc003daq.3	-	18	1775	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	CACNA2D2_uc003dap.3_Silent_p.F579F	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	579					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCGCATCCAGGAAGTCCAGAG	0.597000														82			23		0	0	0.00278032	0	0
GMPS	8833	broad.mit.edu	37	3	155652728	155652728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:155652728C>T	uc003faq.3	+	13	2035	c.1700C>T	c.(1699-1701)cCa>cTa	p.P567L	GMPS_uc011bom.2_Missense_Mutation_p.P468L	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	567					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTGGCCCACCAGTTAAAGAA	0.378000			T	MLL	AML									44			20		0	0	0.00188189	0	0
FKBP15	23307	broad.mit.edu	37	9	115946644	115946644	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:115946644G>A	uc004bgs.2	-	16	1797	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	FKBP15_uc010muu.1_Silent_p.S612S|FKBP15_uc004bgr.2_5'UTR|FKBP15_uc011lxc.1_Silent_p.S129S|FKBP15_uc011lxd.1_Silent_p.S480S|FKBP15_uc010mut.1_Silent_p.S416S	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	548					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						GAATAAGCATGGAATTGCCAG	0.373000														12			9		0	0	0.000274275	0	0
FAM46D	169966	broad.mit.edu	37	X	79698282	79698282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:79698282G>A	uc022bzm.1	+	0	244	c.244G>A	c.(244-246)Gat>Aat	p.D82N	FAM46D_uc004edl.1_Missense_Mutation_p.D82N|FAM46D_uc004edm.2_Missense_Mutation_p.D82N	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	82										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CAGCTATAAGGATCTGGACGT	0.383000														10			5		0	0	0.00116845	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969729	117969729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:117969729C>T	uc021qrd.1	+	2	364	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.P25S|TMPRSS4_uc010rxo.2_Missense_Mutation_p.P23S|TMPRSS4_uc010rxs.2_Intron|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_5'UTR	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	25					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ACCCCGTATCCCCATGGAGAC	0.537000														24			22		0	0	0.00278032	0	0
abParts	0	broad.mit.edu	37	14	106405795	106405795	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106405795C>T	uc021ser.1	-	3033		c.49997G>A								Parts of antibodies, mostly variable regions.																		TGGGGACTGCCTGATCCAGTT	0.527000														95			25		0	0	0.000878237	0	0
C17orf78	284099	broad.mit.edu	37	17	35736299	35736299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:35736299G>A	uc002hns.3	+	2	420	c.370G>A	c.(370-372)Gga>Aga	p.G124R	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.G124R	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	124						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GTTTCAGACTGGATCTCTTCT	0.483000														101			28		0	0	0.00106085	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687801	27687801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:27687801C>T	uc001itu.2	-	3	1844	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	576					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						GTTCCATGTTCATCTGGGACA	0.383000														9			15		0	0	0.00244969	0	0
COL4A2	1284	broad.mit.edu	37	13	111090369	111090369	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:111090369G>A	uc001vqx.3	+	13	1135	c.846G>A	c.(844-846)ggG>ggA	p.G282G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	282	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGTGAGGGGGAACCAGGAA	0.493000														3			44		0	0	0.000781405	0	0
LRBA	987	broad.mit.edu	37	4	151356749	151356749	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:151356749C>A	uc010ipj.3	-	46	7310	c.7066G>T	c.(7066-7068)Gat>Tat	p.D2356Y	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.D246Y|LRBA_uc003ilt.4_Missense_Mutation_p.D1004Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2345Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2356	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACCTTAATATCAGAGGTATCA	0.358000														44			66		4.09171e-25	1.4997e-24	0.000781405	1	0
BC068290	0	broad.mit.edu	37	16	33784684	33784684	+	Missense_Mutation	SNP	G	A	A	rs79489082		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:33784684G>A	uc010vgb.2	+	1	93	c.73G>A	c.(73-75)Gag>Aag	p.E25K						SubName: Full=Uncharacterized protein;																		TGTGTACTACGAGCCGCTGGT	0.637000														44			5		0	0	0.00244969	0	0
AFF3	3899	broad.mit.edu	37	2	100623240	100623240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:100623240G>A	uc002taf.3	-	5	946	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	AFF3_uc002tag.3_Nonsense_Mutation_p.Q243*|AFF3_uc010fiq.1_Nonsense_Mutation_p.Q243*|AFF3_uc010yvr.1_Nonsense_Mutation_p.Q397*|AFF3_uc002tah.1_Nonsense_Mutation_p.Q268*|AFF3_uc010fir.1_Nonsense_Mutation_p.Q320*	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	243					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						TCAGGGGCCTGATCTTGGCCG	0.577000														45			9		0	0	0.000442599	0	0
UPF2	26019	broad.mit.edu	37	10	12046533	12046533	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:12046533G>T	uc001ila.3	-	3	1974	c.1500C>A	c.(1498-1500)acC>acA	p.T500T	UPF2_uc001ilb.3_Silent_p.T500T|UPF2_uc001ilc.3_Silent_p.T500T|UPF2_uc009xiz.2_Silent_p.T500T	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	500					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)				ATTTACCTTTGGTATCATCTT	0.269000														191			9		0.000274275	0.000995949	0.000274275	1	0
GRB14	2888	broad.mit.edu	37	2	165353883	165353883	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:165353883C>T	uc002ucl.3	-	10	1762	c.1221_splice	c.e10+1	p.R407_splice	GRB14_uc010zcv.2_Splice_Site_p.R320_splice	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	407					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCTACTTGTACCCTCCAAGCG	0.408000														38			46		0	0	0.000781405	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594924	31594925	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31594924_31594925CC>TT	uc003nvb.4	+	10	1488_1489	c.1239_1240CC>TT	c.(1237-1242)ccccca>ccTTca	p.P414S	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P414S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	414	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCCCTACCCCCACCTCACCG	0.658000														10			7		0	0	6.4e-05	0	0
ACACB	32	broad.mit.edu	37	12	109694020	109694021	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109694020_109694021CC>TT	uc001tob.3	+	44	6361_6362	c.6242_6243CC>TT	c.(6241-6243)acc>aTT	p.T2081I	ACACB_uc001toc.3_Missense_Mutation_p.T2081I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.T747I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2081	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGCGCAGACCGTGGTGACAG	0.599000														38			6		0	0	6.4e-05	0	0
DEFA4	1669	broad.mit.edu	37	8	6793604	6793604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:6793604G>A	uc003wqu.1	-	2	283	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	78					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTCCCAACACGAAGTTCTGTT	0.507000														49			37		0	0	0.00128727	0	0
ATP5F1	515	broad.mit.edu	37	1	111998710	111998710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111998710C>T	uc009wgf.1	+	4	683	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	ATP5F1_uc001ebc.3_Missense_Mutation_p.P76S	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	76					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTTTTAGGACCCTATGTACT	0.378000														232			26		0	0	0.001512	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606153	48606153	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48606153G>A	uc010wmr.2	+	16	2796	c.2634G>A	c.(2632-2634)ggG>ggA	p.G878G	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	841					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)			AGCAACTGGGGATCAAAGACA	0.557000														14			24		0	0	0.000586117	0	0
ACSS3	79611	broad.mit.edu	37	12	81647101	81647101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81647101G>A	uc001szl.1	+	13	1826	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	ACSS3_uc001szm.1_Missense_Mutation_p.G578S|ACSS3_uc001szn.1_Missense_Mutation_p.G261S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	579						mitochondrion	ATP binding|acetate-CoA ligase activity	p.G579C(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						CCTTTCCCATGGTACCGTGGC	0.363000														49			82		0	0	0.000781405	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070371	84070371	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:84070371G>A	uc002fhg.1	-	1	324	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	108					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTTGAGGAGGAAGCAGGCCT	0.627000														24			6		0	0	0.00198382	0	0
BC107108	0	broad.mit.edu	37	15	20362835	20362835	+	Missense_Mutation	SNP	G	A	A	rs140551116	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:20362835G>A	uc001yte.1	+	0	148	c.97G>A	c.(97-99)Gag>Aag	p.E33K						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		GGGCAACAGCGAGGGAAATGT	0.502000														35			6		0	0	0.00198382	0	0
ACACB	32	broad.mit.edu	37	12	109639469	109639470	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109639469_109639470CC>TA	uc001tob.3	+	18	2995_2996	c.2876_2877CC>TA	c.(2875-2877)gcc>gTA	p.A959V	ACACB_uc001toc.3_Missense_Mutation_p.A959V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	959	Biotinyl-binding.				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)	TGCGTGGTGGCCAGGCTGGAGC	0.589000														26			34		0	0	6.4e-05	0	0
PDYN	5173	broad.mit.edu	37	20	1961157	1961157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1961157C>T	uc010gaj.3	-	2	819	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G193R|PDYN_uc021vzt.1_Missense_Mutation_p.G193R|PDYN_uc021vzu.1_Missense_Mutation_p.G193R|PDYN_uc002wfv.3_Missense_Mutation_p.G193R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	193					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.G193R(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCGTCCCCCTCCCCAGCC	0.587000														24			60		0	0	0.000781405	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	A	A	rs140222432		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20335551G>A	uc002dgv.3	-	2	205	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_uc002dgw.3_Missense_Mutation_p.S41L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000														36			15		0	0	0.000566183	0	0
LRP2	4036	broad.mit.edu	37	2	170099481	170099481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170099481C>T	uc002ues.3	-	23	3865	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N	LRP2_uc010zdf.1_Missense_Mutation_p.D1081N	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1218	LDL-receptor class A 12.				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)	CCTGCTTCATCCGAGTTGTCA	0.398000														119			33		0	0	0.00283554	0	0
GPR39	2863	broad.mit.edu	37	2	133174800	133174800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:133174800G>A	uc002ttl.3	+	0	654	c.185G>A	c.(184-186)gGa>gAa	p.G62E		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	62						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAAGAAAGGATACTTGCAG	0.517000														67			29		0	0	0.00127121	0	0
HOXD13	3239	broad.mit.edu	37	2	176958087	176958087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:176958087G>A	uc002ukf.1	+	0	556	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	157					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCGCCGCACGCCTCGCTGGG	0.642000			T	NUP98	AML*									41			9		0	0	0.000442599	0	0
LATS2	26524	broad.mit.edu	37	13	21562189	21562189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:21562189G>A	uc009zzs.3	-	3	2095	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	LATS2_uc001unr.4_Missense_Mutation_p.P577L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	577					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P577P(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GACGGGAACGGGAGAGGTCTG	0.572000														52			53		0	0	0.000781405	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747075	81747075	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81747075A>C	uc001szo.2	-	16	1978	c.1817T>G	c.(1816-1818)aTt>aGt	p.I606S	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.I532S|PPFIA2_uc021rbh.1_Missense_Mutation_p.I507S|PPFIA2_uc021rbi.1_Missense_Mutation_p.I606S|PPFIA2_uc021rbj.1_Missense_Mutation_p.I606S|PPFIA2_uc021rbk.1_Missense_Mutation_p.I588S|PPFIA2_uc021rbl.1_Missense_Mutation_p.I606S|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.I173S|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.	532										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						TAGTACTCCAATCTGTTGAGT	0.363000														44			17		0	0	0.000958276	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938538	183938538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:183938538G>A	uc001gqr.3	-	4	1069	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	GLT25D2_uc010poj.1_Missense_Mutation_p.P233S|GLT25D2_uc001gqs.3_Missense_Mutation_p.P113S	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	233					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						TGGACCATGGGGACGGGGAAG	0.522000														102			22		0	0	0.00047179	0	0
FAM184A	79632	broad.mit.edu	37	6	119345183	119345183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:119345183G>A	uc003pyj.3	-	1	1303	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	FAM184A_uc003pyk.4_Missense_Mutation_p.L199F|FAM184A_uc003pyl.4_Missense_Mutation_p.L199F	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	319										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGTCAAGAAGACTTCCAGCT	0.348000														70			52		0	0	0.000781405	0	0
TRPV6	55503	broad.mit.edu	37	7	142575033	142575033	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142575033C>T	uc003wbx.2	-	4	579	c.350_splice	c.e4-1	p.G117_splice	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	117					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGTCTGACCTGGCCCAGAG	0.627000														67			16		0	0	0.00074312	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579867	11579867	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11579867C>T	uc001ash.4	+	8	2268	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	PTCHD2_uc001asi.1_Silent_p.I710I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	710					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)		GCCATCTCATCGTGCAGCTGC	0.672000														108			29		0	0	0.001512	0	0
ECE1	1889	broad.mit.edu	37	1	21548330	21548330	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21548330G>A	uc001bek.2	-	17	2121	c.2046C>T	c.(2044-2046)taC>taT	p.Y682Y	ECE1_uc001bem.2_Silent_p.Y666Y|ECE1_uc001bej.2_Silent_p.Y670Y|ECE1_uc001bei.2_Silent_p.Y679Y|ECE1_uc010odl.1_Intron	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	682					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCCAGTTCTGGTAAGCCTGGG	0.592000														189			46		0	0	0.000781405	0	0
ELAC2	60528	broad.mit.edu	37	17	12899106	12899106	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:12899106G>A	uc002gnz.4	-	18	1839	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.H202H|ELAC2_uc002gnx.4_Silent_p.H334H|ELAC2_uc010vvo.2_Silent_p.H372H|ELAC2_uc010vvp.2_Silent_p.H555H|ELAC2_uc010vvq.2_Silent_p.H573H|ELAC2_uc010vvr.2_Silent_p.H534H	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	574					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCAGCAAAGGGTGAAGCGGCT	0.552000														10			5		0	0	0.00116845	0	0
SEC23IP	11196	broad.mit.edu	37	10	121675306	121675306	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:121675306C>T	uc001leu.2	+	7	1659	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SEC23IP_uc010qtc.2_Silent_p.F272F	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	483					Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGACACATTTCAAGAAATCTT	0.398000														79			24		0	0	0.00047179	0	0
VAV3	10451	broad.mit.edu	37	1	108417609	108417609	+	Missense_Mutation	SNP	G	A	A	rs151122345		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:108417609G>A	uc001dvk.1	-	1	289	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	VAV3_uc010ouw.1_Missense_Mutation_p.L79F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.L79F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	79	CH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGGCCGTGAGAAATGTCCTT	0.383000														26			52		0	0	0.000781405	0	0
ABLIM2	84448	broad.mit.edu	37	4	8089972	8089972	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:8089972C>T	uc003gko.3	-	3	521	c.378G>A	c.(376-378)ggG>ggA	p.G126G	ABLIM2_uc003gkm.4_Silent_p.G126G|ABLIM2_uc003gkp.3_Silent_p.G126G|ABLIM2_uc003gkq.3_Silent_p.G126G|ABLIM2_uc003gkr.3_Silent_p.G126G|ABLIM2_uc003gkj.4_Silent_p.G126G|ABLIM2_uc003gks.3_Silent_p.G126G|ABLIM2_uc011bwl.1_Silent_p.G131G	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	126	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	p.N125N(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGCATTCCTTCCCGTTGAAGG	0.652000														7			21		0	0	0.00047179	0	0
FRMD3	257019	broad.mit.edu	37	9	85926816	85926816	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:85926816G>A	uc004ams.2	-	7	961	c.759C>T	c.(757-759)atC>atT	p.I253I	FRMD3_uc004amr.1_Silent_p.I253I|FRMD3_uc022bja.1_Silent_p.I209I|FRMD3_uc022biz.1_Silent_p.I59I	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	253	FERM.					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						TTATCAAATGGATTCTCTTAT	0.393000														49			15		0	0	0.00074312	0	0
ALOX5	240	broad.mit.edu	37	10	45920485	45920485	+	Missense_Mutation	SNP	C	G	G	rs146711717		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:45920485C>G	uc001jce.3	+	5	838	c.739C>G	c.(739-741)Cgg>Ggg	p.R247G	ALOX5_uc009xmt.3_Missense_Mutation_p.R247G|ALOX5_uc010qfg.2_Missense_Mutation_p.R247G|ALOX5_uc021ppr.1_Missense_Mutation_p.R247G	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	247	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.I246L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGTGTTGATCCGGCGCTGCAC	0.602000														69			20		0	0	0.00188189	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723605	140723606	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140723605_140723606CC>TT	uc003ljm.2	+	0	5_6	c.5_6CC>TT	c.(4-6)acc>aTT	p.T2I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.T2I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	0					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)			AAGGAAATGACCAATTGCCTGA	0.520000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		137			57		0	0	6.4e-05	0	0
SYNPO	11346	broad.mit.edu	37	5	150028561	150028561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150028561C>T	uc003lsn.3	+	2	1830	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	SYNPO_uc021yfu.1_Missense_Mutation_p.P486S|SYNPO_uc003lso.4_Missense_Mutation_p.P242S|SYNPO_uc003lsp.3_Missense_Mutation_p.P242S|SYNPO_uc021yfv.1_Missense_Mutation_p.P242S	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	486					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGCCAGGCCTTTTGGGAT	0.647000														40			23		0	0	0.00188189	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122173	12122173	+	Silent	SNP	C	T	T	rs34746669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:12122173C>T	uc003nac.3	+	3	2324	c.2145C>T	c.(2143-2145)acC>acT	p.T715T	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCTTGTCACCACGTCAACAC	0.527000														38			9		0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13719030	13719030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13719030G>A	uc003jfd.2	-	71	12502	c.12460C>T	c.(12460-12462)Cca>Tca	p.P4154S	DNAH5_uc003jfc.2_Missense_Mutation_p.P322S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4154	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4153H(1)|p.P4153T(1)|p.P4153N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTCCTTGTGGAGGATCGTTG	0.448000									Kartagener syndrome					62			11		0	0	0.00185496	0	0
ATCAY	85300	broad.mit.edu	37	19	3909546	3909546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:3909546G>A	uc010xhz.2	+	7	1211	c.728G>A	c.(727-729)gGt>gAt	p.G243D	ATCAY_uc002lyy.4_Missense_Mutation_p.G237D|ATCAY_uc010dts.3_5'UTR			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	237	CRAL-TRIO.				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)		TACCTGAACGGTGCCACGCCC	0.602000														29			9		0	0	0.000673444	0	0
DSG3	1830	broad.mit.edu	37	18	29039109	29039109	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29039109C>T	uc002kws.3	+	4	595	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	162	Cadherin 2.				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)			AACAAATTTTCATGGGTGAAA	0.323000														52			8		0	0	0.000442599	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291234	1291234	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1291234C>T	uc002ckz.3	+	2	194	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	48	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCAGGTGAGCCTGAGAGTCCA	0.697000														46			18		0	0	0.00121646	0	0
UNC45B	146862	broad.mit.edu	37	17	33503017	33503017	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33503017G>A	uc002hja.3	+	14	2092	c.1995G>A	c.(1993-1995)aaG>aaA	p.K665K	UNC45B_uc002hjb.3_Silent_p.K663K|UNC45B_uc002hjc.3_Silent_p.K663K|UNC45B_uc010cto.3_Silent_p.K584K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	665					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)				ACAACCCAAAGGACCGAGGCA	0.547000														75			31		0	0	0.00283554	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751143	140751143	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140751143C>T	uc003ljw.2	+	0	1182	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	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_Silent_p.I394I|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTAAAATCGTTCAAGATA	0.453000														30			12		0	0	0.00136819	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163089	161163089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161163089G>A	uc001fyt.4	-	6	2253	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	609	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTGTGTAGCGAGGAACCCAG	0.642000														72			16		0	0	0.000566183	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631897	156631897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156631897G>A	uc003iov.3	+	6	1116	c.580G>A	c.(580-582)Gat>Aat	p.D194N	GUCY1A3_uc003iou.2_Missense_Mutation_p.D194N|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D194N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D193N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D194N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D194N|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D194N|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D194N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	194					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.D194fs*2(4)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTATGCCTGGATAAGGAGGA	0.453000														39			10		0	0	0.000442599	0	0
SGSM1	129049	broad.mit.edu	37	22	25294507	25294507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:25294507C>T	uc003abg.2	+	19	2913	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	SGSM1_uc010guu.1_Missense_Mutation_p.S864F|SGSM1_uc003abh.2_Missense_Mutation_p.S858F|SGSM1_uc003abj.2_Missense_Mutation_p.S803F|SGSM1_uc003abi.1_Missense_Mutation_p.S839F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	919	Rab-GAP TBC.					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						CCTGTGTCTTCCAGCGGCGTC	0.557000														59			126		0	0	0.000781405	0	0
SEMA4A	64218	broad.mit.edu	37	1	156132739	156132739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156132739G>A	uc001fnl.3	+	9	1167	c.988G>A	c.(988-990)Gtt>Att	p.V330I	SEMA4A_uc009wrq.3_Missense_Mutation_p.V330I|SEMA4A_uc001fnm.3_Missense_Mutation_p.V330I|SEMA4A_uc001fnn.3_Missense_Mutation_p.V198I|SEMA4A_uc001fno.3_Missense_Mutation_p.V330I	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	330	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTCCAGGCAGGTTGGCGGGAC	0.537000														62			52		0	0	0.000781405	0	0
SIK1	150094	broad.mit.edu	37	21	44837465	44837465	+	Missense_Mutation	SNP	C	T	T	rs34614061		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:44837465C>T	uc002zdf.2	-	12	2061	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	645					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCCCTCCCGGCTGCCGGC	0.751000														22			7		0	0	0.00198382	0	0
PIK3CA	5290	broad.mit.edu	37	3	178947158	178947158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:178947158G>A	uc003fjk.3	+	17	2751	c.2594G>A	c.(2593-2595)gGc>gAc	p.G865D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	865	PI3K/PI4K.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G864G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCAAAGGCGGCTTGAAAGGT	0.423000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				14			8		0	0	0.000157383	0	0
FIGN	55137	broad.mit.edu	37	2	164467000	164467000	+	Missense_Mutation	SNP	G	A	A	rs2231904		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:164467000G>A	uc002uck.1	-	2	1653	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	448			R -> C (in dbSNP:rs2231904).			nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTAGCTGCACGGAGTCCAGGG	0.532000														45			34		0	0	0.00209593	0	0
HUWE1	10075	broad.mit.edu	37	X	53622156	53622156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:53622156G>A	uc004dsp.3	-	29	3773	c.3371C>T	c.(3370-3372)cCc>cTc	p.P1124L	HUWE1_uc004dsn.3_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1124				P -> L (in Ref. 1 and 5).	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGAATCGGGGAGTAGGTGT	0.463000														3			50		0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48621382	48621382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:48621382G>A	uc003ctz.2	-	37	4230	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1410	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTCCAGGGGGACCCTGGGA	0.647000														28			11		0	0	0.00136819	0	0
SCN2A	6326	broad.mit.edu	37	2	166172168	166172168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166172168G>A	uc002udc.3	+	10	1861	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SCN2A_uc002udd.3_Missense_Mutation_p.R524Q|SCN2A_uc002ude.3_Missense_Mutation_p.R524Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	524			R -> Q.	R -> L (in Ref. 1; AAA18895).	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)	GACAGAGTCCGAAAATCGGAA	0.378000														56			20		0	0	0.00121646	0	0
FOXS1	2307	broad.mit.edu	37	20	30433274	30433274	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:30433274G>A	uc002wwt.1	-	0	147	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	24					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|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAATAAGGGCGATGTAGCTGT	0.657000														85			31		0	0	0.000692331	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000														20			13		0	0	0.00185496	0	0
CCDC159	126075	broad.mit.edu	37	19	11464191	11464191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11464191C>T	uc010xlw.1	+	8	960	c.881C>T	c.(880-882)cCg>cTg	p.P294L	CCDC159_uc010xls.2_Missense_Mutation_p.P211L|CCDC159_uc010xlt.2_Missense_Mutation_p.P211L|LPPR2_uc002mre.2_5'Flank|LPPR2_uc002mrf.2_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	326										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GAAGAGATACCGCAGGGAGCC	0.567000														24			5		0	0	0.00116845	0	0
EP300	2033	broad.mit.edu	37	22	41523662	41523662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41523662G>A	uc003azl.4	+	3	1473	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	360					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCCAATGGGGAAGTGAGGCA	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					221			56		0	0	0.000781405	0	0
SP140	11262	broad.mit.edu	37	2	231150529	231150529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231150529G>A	uc002vql.3	+	16	1742	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.D429N|SP140_uc002vqm.3_Missense_Mutation_p.D483N|SP140_uc010fxl.3_Missense_Mutation_p.D516N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	543					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAATCTGAAAGACCTTTCCAA	0.453000														48			52		0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238272037	238272037	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:238272037G>A	uc002vwl.2	-	13	6207	c.5922C>T	c.(5920-5922)gtC>gtT	p.V1974V	COL6A3_uc002vwo.2_Silent_p.V1768V|COL6A3_uc010znj.1_Silent_p.V1367V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1974	Nonhelical region.|VWFA 10.				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)		TCAAGGCACGGACTCCTGCAA	0.468000														45			24		0	0	0.00278032	0	0
KCTD19	146212	broad.mit.edu	37	16	67337157	67337157	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67337157G>A	uc002esu.2	-	3	586	c.535C>T	c.(535-537)Cta>Tta	p.L179L	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCAGGTCTAGGGGCAGGAAG	0.572000														30			10		0	0	0.000673444	0	0
ANO4	121601	broad.mit.edu	37	12	101295595	101295595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:101295595G>A	uc010svm.1	+	1	604	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G11E|ANO4_uc001thx.2_Missense_Mutation_p.G11E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	11						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						ATCACTAATGGAAAAACCAAA	0.493000										HNSCC(74;0.22)				26			60		0	0	0.000781405	0	0
OR9A4	130075	broad.mit.edu	37	7	141618715	141618715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141618715C>T	uc003vwu.1	+	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATTTTATCTCCTTGGCTTCCC	0.378000														137			88		0	0	0.000781405	0	0
DENND1A	57706	broad.mit.edu	37	9	126214555	126214555	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:126214555G>A	uc011lzm.1	-	15	1417	c.1203_splice	c.e15+1	p.F401_splice	DENND1A_uc011lzl.1_Splice_Site_p.F208_splice|DENND1A_uc004bny.1_Splice_Site_p.F172_splice|DENND1A_uc004bnz.1_Splice_Site_p.F433_splice|DENND1A_uc004boa.1_Splice_Site_p.F433_splice|DENND1A_uc004bob.1_Splice_Site_p.F403_splice|DENND1A_uc004boc.3_Splice_Site_p.F401_splice	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	433						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGTACTTACGAACTTGTAGA	0.378000														87			21		0	0	0.00047179	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606249	84606249	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:84606249C>T	uc004amn.3	+	3	911	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	288						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCATGAATCCCATTGATTCTT	0.483000														311			87		0	0	0.000781405	0	0
FBLN5	10516	broad.mit.edu	37	14	92344001	92344001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92344001G>A	uc010aue.3	-	10	1611	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	FBLN5_uc010aud.3_Missense_Mutation_p.P344S|FBLN5_uc001xzx.4_Missense_Mutation_p.P339S|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	339					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTGCAGCCAGGGTTCTCAGCA	0.537000														48			39		0	0	0.000781405	0	0
KRT23	25984	broad.mit.edu	37	17	39092815	39092815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39092815G>A	uc002hvm.1	-	1	630	c.41C>T	c.(40-42)tCc>tTc	p.S14F	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.S14F|KRT23_uc002hvn.1_Missense_Mutation_p.S14F	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	14	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCCATGGAAGGAGGCCGAGGG	0.687000														41			24		0	0	0.0024448	0	0
DMXL2	23312	broad.mit.edu	37	15	51839457	51839457	+	Missense_Mutation	SNP	G	A	A	rs143486672		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:51839457G>A	uc010ufy.2	-	6	941	c.716C>T	c.(715-717)tCg>tTg	p.S239L	DMXL2_uc002abf.3_Missense_Mutation_p.S239L|DMXL2_uc010bfa.3_Missense_Mutation_p.S239L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	239						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)		TTTGCGCCACGAAAAACCTGT	0.358000														9			16		0	0	0.000308642	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439349	42439349	+	Silent	SNP	G	A	A	rs144722412		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42439349G>A	uc001zoz.3	-	12	1484	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.L96L|PLA2G4F_uc001zpa.3_Silent_p.L215L|PLA2G4F_uc010bcr.3_Silent_p.L215L|PLA2G4F_uc010bcs.3_Silent_p.L251L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	464	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACTCAACAAGGAGGCCCCAGA	0.592000														16			5		0	0	0.00116845	0	0
FAM188B	84182	broad.mit.edu	37	7	30911861	30911861	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:30911861C>T	uc003tbt.3	+	13	1826	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	FAM188B_uc010kwe.3_Silent_p.I554I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Silent_p.I103I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	583										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTCCAGCATCCGCCAGGACT	0.592000														32			5		0	0	0.00116845	0	0
abParts	0	broad.mit.edu	37	14	106539144	106539144	+	RNA	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106539144T>C	uc021ser.1	-	2082		c.38002A>G								Parts of antibodies, mostly variable regions.																		TAGGCTGTGCTTATGGAGGTG	0.527000														50			140		0	0	0.000781405	0	0
CRISP3	10321	broad.mit.edu	37	6	49704164	49704164	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:49704164C>T	uc021zai.1	-	2	286	c.198G>A	c.(196-198)gtG>gtA	p.V66V	CRISP3_uc003ozs.3_Silent_p.V56V	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	43					innate immune response	proteinaceous extracellular matrix|specific granule		p.V43V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTGCTTATTCACAATCTCCC	0.413000														39			31		0	0	0.00058488	0	0
GABRG3	2567	broad.mit.edu	37	15	27271920	27271920	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:27271920C>G	uc001zbg.2	+	2	476	c.222C>G	c.(220-222)gaC>gaG	p.D74E	GABRG3_uc001zbf.3_Missense_Mutation_p.D74E	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	74					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)		CCGTAATTGACGTTGACATTT	0.393000														32			9		0	0	0.000442599	0	0
FRAS1	80144	broad.mit.edu	37	4	79173594	79173594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79173594C>T	uc003hlb.2	+	4	798	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	FRAS1_uc003hkw.3_Missense_Mutation_p.H120Y|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	120	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCTTGCAATCATGGGGAAGT	0.517000														37			17		0	0	0.000958276	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13811764G>A	uc003jfd.2	-	43	7441	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2467					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2466S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome					20			42		0	0	0.000781405	0	0
AMOT	154796	broad.mit.edu	37	X	112022744	112022744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:112022744G>A	uc004epr.3	-	9	2656	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S	AMOT_uc004eps.3_Missense_Mutation_p.P471S|AMOT_uc011mtc.1_Missense_Mutation_p.P120S	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	880					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						acagagatgggagcaacagct	0.597000														8			9		0	0	0.000442599	0	0
ZNF415	55786	broad.mit.edu	37	19	53611784	53611784	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53611784A>C	uc002qax.3	-	6	2007	c.1658T>G	c.(1657-1659)tTt>tGt	p.F553C	ZNF415_uc010yds.2_Missense_Mutation_p.F505C|ZNF415_uc010ydt.2_Missense_Mutation_p.F505C|ZNF415_uc002qau.3_Missense_Mutation_p.F492C|ZNF415_uc002qav.3_Missense_Mutation_p.F517C|ZNF415_uc002qaw.3_Missense_Mutation_p.F505C|ZNF415_uc002qay.3_Missense_Mutation_p.F492C|ZNF415_uc002qaz.3_Missense_Mutation_p.F553C|ZNF415_uc002qba.3_Missense_Mutation_p.F275C			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	553					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)		GCGCACACTAAAGGATTTGCC	0.433000														138			31		0	0	0.00209593	0	0
SYT15	83849	broad.mit.edu	37	10	46967500	46967500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46967500C>T	uc001jea.3	-	3	730	c.577G>A	c.(577-579)Gag>Aag	p.E193K	SYT15_uc001jdz.2_Missense_Mutation_p.E193K|SYT15_uc001jeb.3_Missense_Mutation_p.E71K|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	193	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AAGCGCCGCTCATCGGGCAGC	0.612000														100			15		0	0	0.000308642	0	0
WFDC8	90199	broad.mit.edu	37	20	44184469	44184469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:44184469G>A	uc002xow.3	-	3	395	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	WFDC8_uc002xox.3_Missense_Mutation_p.H106Y	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	106	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TGTGCCTCATGATTACAGTTT	0.453000														65			22		0	0	0.00229938	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717390	13717390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13717390C>T	uc001rbt.2	-	12	2961	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	928					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.R927Q(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGGATGACTCCCGTCGGATG	0.572000														58			102		0	0	0.000781405	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438184	85438184	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:85438184C>T	uc002blg.3	+	5	493	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SLC28A1_uc010upd.1_Silent_p.F19F|SLC28A1_uc010bnb.3_Silent_p.F97F|SLC28A1_uc010upe.2_Silent_p.F97F|SLC28A1_uc010upf.1_Silent_p.F97F|SLC28A1_uc010upg.1_Silent_p.F97F|SLC28A1_uc002blf.3_Silent_p.F97F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	97					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)			TCTCTGCCTTCCTGCTGGTGG	0.642000														44			22		0	0	0.00229938	0	0
RASAL1	8437	broad.mit.edu	37	12	113543663	113543663	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113543663G>A	uc001tun.2	-	16	1990	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	RASAL1_uc010syp.2_Silent_p.F562F|RASAL1_uc001tul.3_Silent_p.F561F|RASAL1_uc001tum.2_Silent_p.F561F|RASAL1_uc010syq.2_Silent_p.F562F|RASAL1_uc001tuo.4_Silent_p.F562F	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	561					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	p.P562L(1)		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						CCGAGGGCGGGAACAGGGCCC	0.622000														60			22		0	0	0.00047179	0	0
CDH9	1007	broad.mit.edu	37	5	26915833	26915833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:26915833G>A	uc003jgs.1	-	2	597	c.428C>T	c.(427-429)tCg>tTg	p.S143L	CDH9_uc010iug.3_Missense_Mutation_p.S143L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143S(1)|p.E142*(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						GATAAATTCCGATTCCGGTTC	0.398000														32			67		0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21230280	21230280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21230280C>T	uc002red.3	-	25	9588	c.9460G>A	c.(9460-9462)Gaa>Aaa	p.E3154K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3154					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)	CCTGTTTTTTCCCATAGAGAG	0.348000														346			93		0	0	0.000781405	0	0
SMOX	54498	broad.mit.edu	37	20	4167936	4167936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:4167936C>T	uc002wkp.2	+	7	1841	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	SMOX_uc010zqo.1_Missense_Mutation_p.S441F|SMOX_uc002wkk.1_Missense_Mutation_p.S494F|SMOX_uc002wkl.1_Missense_Mutation_p.S464F|SMOX_uc002wkm.1_Missense_Mutation_p.S517F|SMOX_uc002wkn.1_Missense_Mutation_p.S152F|SMOX_uc002wko.1_Missense_Mutation_p.S517F	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	517					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGCTGTTTTCCGGTGAGGCC	0.647000														22			8		0	0	0.000978159	0	0
FKBP8	23770	broad.mit.edu	37	19	18650451	18650451	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:18650451G>T	uc002njk.1	-	2	485	c.372C>A	c.(370-372)acC>acA	p.T124T	FKBP8_uc010xqi.1_Silent_p.T153T|FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	124	PPIase FKBP-type.				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						GCAGATGTACGGTGACCACCT	0.652000														253			9		0.000978159	0.00354052	0.000978159	1	0
TMEM150C	441027	broad.mit.edu	37	4	83411342	83411342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:83411342C>T	uc011ccj.1	-	6	618	c.503G>A	c.(502-504)gGa>gAa	p.G168E	TMEM150C_uc003hmy.1_Missense_Mutation_p.G138E	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	138						integral to membrane				ovary(1)	1						TGTGCCAAATCCAAAGGTCAA	0.463000														70			111		0	0	0.000781405	0	0
DENND2D	79961	broad.mit.edu	37	1	111730783	111730783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111730783C>T	uc001eak.1	-	10	1509	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	DENND2D_uc001eal.1_Missense_Mutation_p.E434K	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	437	dDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTCTCGGCTTCCTGGATGAAA	0.473000														102			23		0	0	0.00278032	0	0
ABCC8	6833	broad.mit.edu	37	11	17418804	17418804	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17418804C>T	uc001mnc.3	-	31	4050	c.3924G>A	c.(3922-3924)ctG>ctA	p.L1308L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1308					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)	TCACAGCCCCCAGCTGGAGCT	0.612000														57			43		0	0	0.0025221	0	0
SPAG17	200162	broad.mit.edu	37	1	118624093	118624093	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:118624093C>T	uc001ehk.2	-	13	2003	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	645						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)		GCTGCCTTATCTGTTTAGCAA	0.413000														136			30		0	0	0.00178596	0	0
PANX1	24145	broad.mit.edu	37	11	93911716	93911716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93911716G>A	uc001per.3	+	2	888	c.503G>A	c.(502-504)gGa>gAa	p.G168E	PANX1_uc001peq.3_Missense_Mutation_p.G168E	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	168					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)				ATGAGAGATGGAGCCTGCTCA	0.473000														13			12		0	0	0.00244969	0	0
COL17A1	1308	broad.mit.edu	37	10	105800155	105800155	+	Silent	SNP	G	A	A	rs139467442	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105800155G>A	uc001kxr.3	-	39	2884	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	905	Triple-helical region.			S -> F (in Ref. 1; AAA35605 and 2; AAB51499).	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.S905F(1)		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)		CTGGGGGGCCGGAGAGGAAGG	0.532000														49			40		0	0	0.0025221	0	0
MACF1	23499	broad.mit.edu	37	1	39549961	39549961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:39549961G>A	uc010oir.2	+	1	250	c.58G>A	c.(58-60)Gat>Aat	p.D20N	MACF1_uc021ols.1_Missense_Mutation_p.R24Q|MACF1_uc001cdc.2_Missense_Mutation_p.R24Q|MACF1_uc021olt.1_Missense_Mutation_p.R24Q			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGTGAGCGATCTTACAGG	0.627000														73			20		0	0	0.00229938	0	0
SENP2	59343	broad.mit.edu	37	3	185331142	185331143	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:185331142_185331143GG>TT	uc003fpn.3	+	9	1050_1051	c.879_880GG>TT	c.(877-882)aagggg>aaTTgg	p.293_294KG>NW	SENP2_uc011brv.2_Missense_Mutation_p.283_284KG>NW|SENP2_uc011brw.2_Missense_Mutation_p.106_107KG>NW	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	293					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTGTTCAAAGGGGAAAATTAC	0.317000														402			11		0	0	6.4e-05	0	0
INSRR	3645	broad.mit.edu	37	1	156824046	156824046	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156824046C>T	uc010pht.2	-	1	434	c.135G>A	c.(133-135)ctG>ctA	p.L45L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.L45L	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	45					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGTTCTCCAGCTGACGAA	0.627000														36			7		0	0	0.00198382	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389992	150389992	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150389992G>A	uc003who.3	+	2	706	c.618G>A	c.(616-618)ttG>ttA	p.L206L		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	206						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)		AGGATCTGTTGATGGAGAAAA	0.438000														69			14		0	0	0.000308642	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359872	77359872	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77359872G>A	uc002ffc.4	-	12	2342	c.1923C>T	c.(1921-1923)aaC>aaT	p.N641N	ADAMTS18_uc010chc.1_Silent_p.N229N|ADAMTS18_uc002ffe.1_Silent_p.N337N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	641	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N641N(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						CATTGCAAGGGTTAATATTGC	0.393000														19			9		0	0	0.000274275	0	0
RWDD4	201965	broad.mit.edu	37	4	184572254	184572254	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:184572254G>A	uc021xvb.1	-	3	472	c.246C>T	c.(244-246)gcC>gcT	p.A82A	RWDD4_uc003ivt.1_Silent_p.A82A|RWDD4_uc011ckl.1_Non-coding_Transcript	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	Homo sapiens RWD domain containing 4 (RWDD4), mRNA.	82	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CCTGTAGCTTGGCTAATATAC	0.368000														38			16		0	0	0.000308642	0	0
GJA1	2697	broad.mit.edu	37	6	121768817	121768817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:121768817C>T	uc003pyr.3	+	1	1074	c.824C>T	c.(823-825)aCc>aTc	p.T275I	GJA1_uc011ebo.1_Missense_Mutation_p.T176I|GJA1_uc011ebp.1_Missense_Mutation_p.T63I|GJA1_uc021zel.1_Missense_Mutation_p.T275I	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	275					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)	TCCTCACCAACCGCTCCCCTC	0.517000														33			14		0	0	0.00185496	0	0
DNAH3	55567	broad.mit.edu	37	16	20946785	20946786	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20946785_20946786GG>AA	uc010vbe.2	-	60	11881_11882	c.11881_11882CC>TT	c.(11881-11883)cct>TTt	p.P3961F	DNAH3_uc010vbd.2_Missense_Mutation_p.P1396F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3961					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)		AAATACCACAGGGGGCCCCTTG	0.416000														18			12		0	0	6.4e-05	0	0
NEBL	10529	broad.mit.edu	37	10	21115453	21115453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:21115453C>T	uc001iqi.3	-	17	2189	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	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.	598					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						GCTCCCACTTCTTTCTTATAA	0.358000														20			9		0	0	0.000442599	0	0
DLL4	54567	broad.mit.edu	37	15	41228588	41228589	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:41228588_41228589CC>TT	uc001zng.2	+	8	1739_1740	c.1403_1404CC>TT	c.(1402-1404)gcc>gTT	p.A468V		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	468	EGF-like 7.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACCTGCCCTGCCGGCTTCTCTG	0.624000														1			15		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	12	49432453	49432453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49432453G>A	uc001rta.4	-	33	8686	c.8686C>T	c.(8686-8688)Cct>Tct	p.P2896S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2896	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						CCCTGACCAGGAAACGGAGTG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			10		0	0	0.000442599	0	0
HPX	3263	broad.mit.edu	37	11	6458377	6458377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:6458377C>T	uc001mdg.2	-	6	795	c.734G>A	c.(733-735)gGg>gAg	p.G245E	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	245					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGTACTGTTCCCATGGCCAGT	0.547000														12			12		0	0	0.000978159	0	0
DHCR7	1717	broad.mit.edu	37	11	71152291	71152291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:71152291G>A	uc001oqk.3	-	5	858	c.608C>T	c.(607-609)cCc>cTc	p.P203L	DHCR7_uc001oql.3_Missense_Mutation_p.P203L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	203					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCGCTGGTGGGGAAGAAGTA	0.577000									Smith-Lemli-Opitz syndrome					29			12		0	0	0.00136819	0	0
GRIK5	2901	broad.mit.edu	37	19	42507715	42507715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42507715C>T	uc002osj.1	-	16	2419	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	GRIK5_uc002osi.1_Missense_Mutation_p.R367Q	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	795						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACCTTTAGCTCGATGGTCCTC	0.632000														42			12		0	0	0.00244969	0	0
RYR2	6262	broad.mit.edu	37	1	237777673	237777673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:237777673C>T	uc001hyl.1	+	36	5365	c.5245C>T	c.(5245-5247)Cca>Tca	p.P1749S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1749	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGCCTTCCAGGGATCGG	0.512000														45			5		0	0	0.000602214	0	0
PADI1	29943	broad.mit.edu	37	1	17548886	17548886	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:17548886A>T	uc001bah.1	+	1	286	c.194A>T	c.(193-195)aAg>aTg	p.K65M		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	65					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCCATAGGCAAGGCCCGTTGG	0.542000														164			35		0	0	0.00148497	0	0
SPEF2	79925	broad.mit.edu	37	5	35641617	35641617	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35641617C>T	uc003jjo.3	+	2	357	c.246C>T	c.(244-246)gcC>gcT	p.A82A	SPEF2_uc003jjn.1_Silent_p.A82A|SPEF2_uc003jjq.4_Silent_p.A82A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	82	CH.				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)			AGAATGTGGCCCATGGCATCA	0.423000														24			9		0	0	0.000274275	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139513	101139513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:101139513G>A	uc011mrl.2	-	6	1236	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZMAT1_uc004eim.3_Missense_Mutation_p.H125Y|ZMAT1_uc004ein.3_Missense_Mutation_p.H125Y|ZMAT1_uc011mrm.2_Missense_Mutation_p.H125Y	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	125						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTTGAATGAGGTAACTGC	0.383000														3			22		0	0	0.00188189	0	0
FANCI	55215	broad.mit.edu	37	15	89811691	89811691	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89811691C>T	uc010bnp.1	+	9	907	c.817C>T	c.(817-819)Cta>Tta	p.L273L	FANCI_uc002bnm.1_Silent_p.L273L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.L94L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	273					DNA repair|cell cycle	nucleoplasm	protein binding	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CACCATTATTCTACACATTGT	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					83			27		0	0	0.001512	0	0
WDR66	144406	broad.mit.edu	37	12	122359542	122359542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122359542G>A	uc009zxk.3	+	1	490	c.331G>A	c.(331-333)Gag>Aag	p.E111K	WDR66_uc021rfh.1_Missense_Mutation_p.E111K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	111							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GATCCGTTTGGAGACACAGAT	0.418000														47			20		0	0	0.00188189	0	0
FNDC1	84624	broad.mit.edu	37	6	159687154	159687154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159687154G>A	uc010kjv.3	+	20	5523	c.5323G>A	c.(5323-5325)Gat>Aat	p.D1775N		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1775						extracellular region		p.D1775A(1)		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)		TTTCAAACATGATCCCAGCTA	0.468000														33			20		0	0	0.000958276	0	0
CHD7	55636	broad.mit.edu	37	8	61735282	61735282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:61735282G>A	uc003xue.3	+	11	3670	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.E173K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1060	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCAGTTGTATGAAATGTACTT	0.418000														55			28		0	0	0.001512	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419725	105419725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105419725G>A	uc010axc.1	-	6	2183	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	688						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)			GCCTGGGGCTGACGCCCCGAA	0.542000														70			192		0	0	0.000781405	0	0
C1orf168	199920	broad.mit.edu	37	1	57252873	57252873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57252873C>T	uc001cym.4	-	3	1334	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	310								p.V309V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGCCCTCTTCCACAGTCACT	0.493000														37			42		0	0	0.000781405	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117365219	117365220	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117365219_117365220CC>AA	uc003vjf.3	-	17	4239_4240	c.4147_4148GG>TT	c.(4147-4149)ggg>TTg	p.G1383L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1383										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGTTGTCTGCCCAAAGCCAGGT	0.500000														233			8		0	0	6.4e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201043666	201043666	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201043666C>T	uc001gvv.3	-	13	2258	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	677					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)	TCTCCTCAGCCTTGGCCTTCT	0.572000														39			8		0	0	0.000157383	0	0
FMO3	2328	broad.mit.edu	37	1	171083175	171083175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171083175G>A	uc001ghi.3	+	6	967	c.856G>A	c.(856-858)Gat>Aat	p.D286N	FMO3_uc001ghh.3_Missense_Mutation_p.D286N|FMO3_uc010pmb.2_Missense_Mutation_p.D266N|FMO3_uc010pmc.2_Missense_Mutation_p.D223N	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	286					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.N285N(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTATTTAACGATGAGCTCCC	0.408000														43			6		0	0	0.00198382	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374129	62374129	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62374129C>T	uc002ygq.3	+	6	1093	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	SLC2A4RG_uc002ygr.3_Silent_p.I241I|SLC2A4RG_uc011abj.2_Silent_p.I241I|SLC2A4RG_uc002ygs.3_Silent_p.I148I	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	346						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTCCAGGATCGGAGTCACCC	0.716000														8			5		0	0	0.000602214	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783050	115783050	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:115783050G>A	uc003krx.4	-	19	3112	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	SEMA6A_uc010jck.3_Silent_p.I784I|SEMA6A_uc011cwe.2_Silent_p.I163I|SEMA6A_uc003krv.4_Silent_p.I211I|SEMA6A_uc003krw.4_Silent_p.I261I|SEMA6A_uc010jcj.3_Silent_p.I328I	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	784	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCAGGCATTGATGAGGTTCT	0.677000														35			17		0	0	0.000566183	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627414	43627414	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:43627414C>G	uc011lrb.2	-	3	1302	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	425						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ACCAGGGACTCGCTGTGCAGA	0.498000														104			161		0	0	0.000781405	0	0
CELA3B	23436	broad.mit.edu	37	1	22310198	22310198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:22310198C>T	uc001bfk.3	+	4	489	c.374C>T	c.(373-375)gCc>gTc	p.A125V	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	125	Peptidase S1.				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						AATGACATCGCCCTCATCAAG	0.647000														70			17		0	0	0.00188189	0	0
HDC	3067	broad.mit.edu	37	15	50546385	50546385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50546385C>T	uc001zxz.3	-	5	1004	c.662G>A	c.(661-663)gGg>gAg	p.G221E	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.G221E|HDC_uc010bet.2_Missense_Mutation_p.G142E|HDC_uc010beu.2_Missense_Mutation_p.G221E	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	221					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R220R(1)		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)	AAGAGCTTCCCCTCGGAGTGA	0.493000														17			26		0	0	0.000720815	0	0
ABRA	137735	broad.mit.edu	37	8	107781815	107781815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:107781815C>T	uc003ymm.4	-	0	658	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	202					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCGGGCCTCTCCTCAGCCTCT	0.592000														54			156		0	0	0.000781405	0	0
AXIN1	8312	broad.mit.edu	37	16	347774	347774	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:347774A>G	uc002cgp.2	-	5	2121	c.1732T>C	c.(1732-1734)Tac>Cac	p.Y578H	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.Y578H	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	578	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Y578*(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTCTGAGTAGCCTCGGGAC	0.692000														9			19		0	0	0.00188189	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156916804	156916804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156916804G>A	uc001fqo.3	-	25	3412	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	ARHGEF11_uc010phu.2_Missense_Mutation_p.S207F|ARHGEF11_uc001fqn.3_Missense_Mutation_p.S831F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	791	DH.				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	p.S831F(1)		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)					TTCACACCAGGAATCTGGGGC	0.522000														140			30		0	0	0.0024448	0	0
MYH2	4620	broad.mit.edu	37	17	10439901	10439901	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10439901C>T	uc010coi.3	-	16	2048	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K640K|MYH2_uc010coj.3_Silent_p.K640K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	640	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K640R(1)		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						TACCACCTTTCTTGGCCCCTC	0.418000														9			5		0	0	0.00198382	0	0
MAPK1	5594	broad.mit.edu	37	22	22153384	22153384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:22153384G>A	uc002zvn.3	-	3	766	c.526C>T	c.(526-528)Cca>Tca	p.P176S	MAPK1_uc002zvo.3_Missense_Mutation_p.P176S|MAPK1_uc010gtk.1_Missense_Mutation_p.P176S	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	176	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCATGGTCTGGATCTGCAACA	0.413000														36			13		0	0	0.00185496	0	0
COL5A1	1289	broad.mit.edu	37	9	137622301	137622301	+	Missense_Mutation	SNP	G	A	A	rs148288567		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137622301G>A	uc004cfe.3	+	6	1526	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	382	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)		CAGCACCGCCGACACCTCCAA	0.622000														65			12		0	0	0.00136819	0	0
SCN9A	6335	broad.mit.edu	37	2	167129170	167129170	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:167129170C>T	uc010fpl.3	-	16	3398	c.3057G>A	c.(3055-3057)ctG>ctA	p.L1019L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1030						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)	TCTTAGTATTCAGATCTTCTG	0.328000														20			7		0	0	0.000157383	0	0
SMG6	23293	broad.mit.edu	37	17	2202762	2202762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:2202762G>A	uc002fub.1	-	1	1340	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	SMG6_uc002fud.2_Missense_Mutation_p.P398S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	429	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTCCCAAAGGCGCGGACTCT	0.547000														36			36		0	0	0.00058488	0	0
MAGI1	9223	broad.mit.edu	37	3	65479266	65479266	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:65479266C>T	uc003dmn.3	-	2	997	c.471G>A	c.(469-471)gtG>gtA	p.V157V	MAGI1_uc003dmm.3_Silent_p.V157V|MAGI1_uc003dmo.3_Silent_p.V157V|MAGI1_uc003dmp.3_Silent_p.V157V|MAGI1_uc010hny.2_Silent_p.V41V|MAGI1_uc021xac.1_Silent_p.V157V|MAGI1_uc003dmr.3_Silent_p.V157V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	157	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTTATAGTCCACGCCAGGCA	0.483000														49			14		0	0	0.00244969	0	0
MPP7	143098	broad.mit.edu	37	10	28378745	28378745	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:28378745A>G	uc001iua.1	-	13	1382	c.978T>C	c.(976-978)ctT>ctC	p.L326L	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.L326L|MPP7_uc009xla.2_Silent_p.L326L|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.	326					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						CTTTTCTACTAAGACGAAAAC	0.323000														15			13		0	0	0.00136819	0	0
ERCC6	2074	broad.mit.edu	37	10	50690901	50690901	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:50690901G>A	uc001jhs.4	-	9	2155	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	ERCC6_uc010qgr.2_Silent_p.T37T|ERCC6_uc001jhr.4_Silent_p.T67T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	667	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCCGATGAGGGGTGCGAAACT	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)						42			34		0	0	0.00283554	0	0
BCAS3	54828	broad.mit.edu	37	17	59161840	59161841	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:59161840_59161841CC>TT	uc002iyv.4	+	22	2494_2495	c.2385_2386CC>TT	c.(2383-2388)gtccgc>gtTTgc	p.R796C	BCAS3_uc002iyu.4_Missense_Mutation_p.R781C|BCAS3_uc002iyw.4_Missense_Mutation_p.R777C|BCAS3_uc002iyy.4_Missense_Mutation_p.R552C|BCAS3_uc002iyz.4_Missense_Mutation_p.R350C|BCAS3_uc002iza.4_Missense_Mutation_p.R335C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	796						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)			TCCAGCCAGTCCGCTCTGACCC	0.475000														54			13		0	0	6.4e-05	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92108418	92108418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:92108418C>T	uc010osx.2	+	2	445	c.445C>T	c.(445-447)Cca>Tca	p.P149S						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		CACATCTGATCCACGTGGTCT	0.363000														3			27		0	0	0.000586117	0	0
PCSK5	5125	broad.mit.edu	37	9	78848417	78848417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78848417G>A	uc004akc.2	+	21	3309	c.2771G>A	c.(2770-2772)tGg>tAg	p.W924*		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	625					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						TGCCCCTCATGGAAATTTGAA	0.502000														48			14		0	0	0.000422831	0	0
CCDC8	83987	broad.mit.edu	37	19	46915887	46915887	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:46915887T>C	uc002pep.3	-	0	1033	c.181A>G	c.(181-183)Aag>Gag	p.K61E		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	61						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ggggtgctcttctccatgatg	0.657000														55			17		0	0	0.00121646	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167751	33167751	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:33167751C>T	uc002ntp.1	+	0	1439	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA.	194	SNARE-like (By similarity).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CCGGCCCCTCCTCGGTCGTGT	0.716000														12			8		0	0	0.000274275	0	0
ASZ1	136991	broad.mit.edu	37	7	117060321	117060321	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117060321T>A	uc003vjb.2	-	3	399	c.336A>T	c.(334-336)caA>caT	p.Q112H	ASZ1_uc011kno.1_Missense_Mutation_p.Q112H|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	112					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)			TCAAAATACTTTGCTTATCTA	0.358000														69			15		0	0	0.000422831	0	0
KLF11	8462	broad.mit.edu	37	2	10188702	10188702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:10188702C>T	uc002raf.1	+	2	1400	c.1238C>T	c.(1237-1239)gCc>gTc	p.A413V	KLF11_uc021vdq.1_Missense_Mutation_p.A396V|KLF11_uc010yjc.2_Missense_Mutation_p.A396V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	413					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CACCTTAAGGCCCATCTTCGC	0.557000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		219			70		0	0	0.000781405	0	0
OPN1MW	2652	broad.mit.edu	37	X	153458976	153458976	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153458976C>T	uc004fkb.3	+	4	904	c.822C>T	c.(820-822)gtC>gtT	p.V274V		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	274					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	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)					TGGTGATGGTCCTGGCATTCT	0.577000														115			50		0	0	0.000781405	0	0
ASB6	140459	broad.mit.edu	37	9	132402973	132402973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:132402973G>A	uc004byf.2	-	1	312	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ASB6_uc004bye.1_5'UTR|ASB6_uc010myx.2_Nonsense_Mutation_p.R48*|ASB6_uc004byg.2_Nonsense_Mutation_p.R48*|ASB6_uc011mbt.2_Intron	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	48					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ACAAGGATTCGGCTCTCCTCG	0.622000														24			22		0	0	0.00229938	0	0
SYT16	83851	broad.mit.edu	37	14	62463197	62463197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:62463197C>T	uc001xfu.1	+	0	657	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	SYT16_uc010tsd.1_Missense_Mutation_p.L154F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	154										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)		AAGAAGTGGCCTTCAACATGG	0.478000														52			16		0	0	0.000422831	0	0
WFS1	7466	broad.mit.edu	37	4	6279305	6279305	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:6279305C>T	uc003giy.3	+	1	289	c.123C>T	c.(121-123)ccC>ccT	p.P41P	WFS1_uc003gix.3_Silent_p.P41P	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	41					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)		GCGAAAGGCCCCGAGCACCCG	0.711000														72			38		0	0	0.00128727	0	0
DDX60L	91351	broad.mit.edu	37	4	169351758	169351758	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:169351758G>A	uc021xuh.1	-	11	1658	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	DDX60L_uc003irq.4_Silent_p.F516F|DDX60L_uc003irr.1_Silent_p.F516F|DDX60L_uc003irs.1_Silent_p.F243F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	516							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)		TCTTTTTCAGGAAATCAAGAA	0.333000														9			7		0	0	0.00198382	0	0
COL1A2	1278	broad.mit.edu	37	7	94058723	94058723	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94058723T>C	uc003ung.1	+	50	4406	c.3935T>C	c.(3934-3936)gTt>gCt	p.V1312A	COL1A2_uc011kib.1_Missense_Mutation_p.V164A	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1312	Fibrillar collagen NC1.				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)	ACTTACACTGTTCTTGTAGAT	0.478000										HNSCC(75;0.22)				3			53		0	0	0.000781405	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119484	17119484	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:17119484C>T	uc002zls.1	+	1		c.321C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TTGGAGTTTTCCTGGTCTTAC	0.333000														102			19		0	0	0.00121646	0	0
WDR47	22911	broad.mit.edu	37	1	109538320	109538321	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:109538320_109538321GG>TT	uc001dwl.3	-	7	1972_1973	c.1596_1597CC>AA	c.(1594-1599)ccccaa>ccAAaa	p.Q533K	WDR47_uc001dwi.3_Missense_Mutation_p.Q526K|WDR47_uc001dwj.3_Missense_Mutation_p.Q525K|WDR47_uc001dwk.2_Missense_Mutation_p.Q497K|WDR47_uc010ovf.2_Missense_Mutation_p.Q452K	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAGTCTTGGGGTGGTGTAG	0.416000														914			17		0	0	6.4e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23887546	23887546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23887546C>T	uc001wjx.3	-	29	4148	c.4042G>A	c.(4042-4044)Gag>Aag	p.E1348K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1348					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)		GTCTCCTCCTCGTACTGCTCC	0.667000														38			17		0	0	0.000422831	0	0
IVL	3713	broad.mit.edu	37	1	152882751	152882751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152882751G>A	uc021ozl.1	+	0	478	c.478G>A	c.(478-480)Gag>Aag	p.E160K	IVL_uc001fau.3_Missense_Mutation_p.E160K	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	160	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				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)			AGagcagcaggaggggcacct	0.582000														33			7		0	0	0.000157383	0	0
OR4E2	26686	broad.mit.edu	37	14	22134146	22134146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22134146C>T	uc010tmd.2	+	0	850	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTGCTGAATCCCTTCATTTA	0.448000														20			9		0	0	0.000274275	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152882	151152882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:151152882G>A	uc011eem.1	+	14	2900	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	PLEKHG1_uc011eel.1_Missense_Mutation_p.E919K|PLEKHG1_uc003qny.1_Missense_Mutation_p.E879K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E879K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	879					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGCACCCCTGAGCTGAGCCG	0.627000														23			15		0	0	0.00244969	0	0
FAM5C	339479	broad.mit.edu	37	1	190067725	190067725	+	Missense_Mutation	SNP	G	A	A	rs146145589		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:190067725G>A	uc001gse.1	-	7	1956	c.1724C>T	c.(1723-1725)cCc>cTc	p.P575L	FAM5C_uc010pot.1_Missense_Mutation_p.P473L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	575						extracellular region		p.N574N(1)|p.P575T(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)					GCCTCCGAAGGGATTGACATA	0.463000														107			54		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784900	140784900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140784900C>T	uc003lkh.2	+	0	2381	c.2381C>T	c.(2380-2382)tCt>tTt	p.S794F	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_Missense_Mutation_p.S794F|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	804					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)			TTGTGCGTCTCTGTTGATTCC	0.418000														36			20		0	0	0.00121646	0	0
ZNF699	374879	broad.mit.edu	37	19	9406533	9406533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9406533G>A	uc002mlc.1	-	4	1547	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTAAGGTGGGAGGAACTAAT	0.443000														33			10		0	0	0.000978159	0	0
ZFP57	346171	broad.mit.edu	37	6	29640907	29640907	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29640907G>A	uc011dlw.2	-	3	1132	c.981C>T	c.(979-981)gcC>gcT	p.A327A		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	243					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCTGGGACCTGGCCACTGGTG	0.557000														37			84		0	0	0.000781405	0	0
CA3	761	broad.mit.edu	37	8	86351982	86351982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:86351982G>A	uc003ydj.3	+	1	159	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	26					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCCAAGGGGGAAAACCAGTC	0.493000														28			19		0	0	0.00188189	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55344234	55344234	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55344234C>T	uc002qhm.1	+	0	61	c.15C>T	c.(13-15)gtC>gtT	p.V5V	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.V5V	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	5					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)		CGCTCATGGTCATCATCATGG	0.617000														99			81		0	0	0.000781405	0	0
DGKE	8526	broad.mit.edu	37	17	54912440	54912440	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:54912440A>C	uc002iur.3	+	1	464	c.284A>C	c.(283-285)gAc>gCc	p.D95A	DGKE_uc002ius.1_Missense_Mutation_p.D95A|C17orf67_uc002iuq.3_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	95					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTCCGCGTGGACGAGGGCTGC	0.637000														21			14		0	0	0.00185496	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054427	196054427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:196054427C>T	uc010iad.2	-	1	193	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.R12Q|TM4SF19_uc021xjs.1_Missense_Mutation_p.R12Q|TM4SF19_uc011btv.2_Missense_Mutation_p.R12Q	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	12						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGAGCAAGTCCGTGAGCTTGC	0.607000														54			20		0	0	0.00152264	0	0
PRKG1	5592	broad.mit.edu	37	10	54040554	54040554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:54040554C>T	uc001jjm.3	+	12	1592	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	PRKG1_uc001jjo.3_Missense_Mutation_p.S470L|PRKG1_uc009xow.2_Missense_Mutation_p.S173L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	455	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTCAGAGGTTCGTTTGAAGAT	0.343000														8			9		0	0	0.000978159	0	0
LILRB5	10990	broad.mit.edu	37	19	54759232	54759232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54759232C>T	uc010yer.1	-	4	953	c.842G>A	c.(841-843)gGg>gAg	p.G281E	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G290E|LILRB5_uc002qez.3_Missense_Mutation_p.G190E|LILRB5_uc002qex.3_Missense_Mutation_p.G290E|LILRB5_uc002qfa.1_Missense_Mutation_p.G180E|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	290	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTACTGGCCCCCGTGGGAGCG	0.682000														40			29		0	0	0.00127121	0	0
CREBRF	153222	broad.mit.edu	37	5	172517681	172517681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:172517681C>T	uc003mch.3	+	3	818	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	CREBRF_uc003mcf.3_Missense_Mutation_p.P167S|CREBRF_uc003mcg.3_Missense_Mutation_p.P167S|CREBRF_uc011dfd.1_Missense_Mutation_p.P167S	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	167							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CAAACAAAATCCCTTACCCTC	0.433000														24			17		0	0	0.000566183	0	0
PKLR	5313	broad.mit.edu	37	1	155263375	155263375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:155263375C>T	uc001fkb.4	-	7	1162	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PKLR_uc001fka.4_Missense_Mutation_p.E344K	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ATCATGCTCTCCAGCATCTGG	0.577000														19			47		0	0	0.000781405	0	0
PLXND1	23129	broad.mit.edu	37	3	129279270	129279270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:129279270G>A	uc003emx.2	-	30	5136	c.5036C>T	c.(5035-5037)cCt>cTt	p.P1679L	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.P347L	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1679					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCGTCCGTAGGCAGCACCTG	0.647000														6			4		0	0	0.000602214	0	0
FAM155B	27112	broad.mit.edu	37	X	68748926	68748926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:68748926G>A	uc004dxk.3	+	1	1000	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	318						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ATACTGCCTGGAGGTGCAGAC	0.587000														15			10		0	0	0.000978159	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332404	100332404	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:100332404G>A	uc021sxl.1	-	1		c.749C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GCTCCAGAGTGGCCTTATGGA	0.542000														59			36		0	0	0.00111076	0	0
ABCG2	9429	broad.mit.edu	37	4	89039399	89039399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89039399C>T	uc003hrg.3	-	6	1196	c.703G>A	c.(703-705)Gga>Aga	p.G235R	ABCG2_uc003hrh.3_Missense_Mutation_p.G235R|ABCG2_uc003hrf.3_Missense_Mutation_p.G105R	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	235	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATTGTTCGTCCCTGCTTAGAC	0.373000														41			18		0	0	0.00278032	0	0
OR52E2	119678	broad.mit.edu	37	11	5080082	5080082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5080082G>A	uc010qyw.2	-	0	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473000														21			24		0	0	0.00047179	0	0
SALL1	6299	broad.mit.edu	37	16	51173298	51173298	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51173298C>T	uc021tif.1	-	1	2866	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E	SALL1_uc021tid.1_Silent_p.E848E|SALL1_uc021tie.1_Silent_p.E945E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	945					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)			GTGGTTTCTCCTCAATGCTGG	0.552000														25			10		0	0	0.00136819	0	0
PPYR1	5540	broad.mit.edu	37	10	47086912	47086912	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:47086912C>T	uc001jee.3	+	2	548	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.F43F|PPYR1_uc021ppu.1_Silent_p.F43F	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	43					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGATGGTCTTCATCGTCACTT	0.522000														117			52		0	0	0.000781405	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924178	43924178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:43924178C>T	uc010wka.2	+	0	1923	c.1906C>T	c.(1906-1908)Cca>Tca	p.P636S	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	636						integral to membrane	aspartic-type endopeptidase activity										CATGCTGATCCCACTCATGCC	0.662000														23			32		0	0	0.0024448	0	0
OR8J1	219477	broad.mit.edu	37	11	56128572	56128572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56128572C>T	uc010rjh.2	+	0	882	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTGGTAATTCCTATGCTGAA	0.393000														22			14		0	0	0.00244969	0	0
C3orf30	152405	broad.mit.edu	37	3	118866239	118866239	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:118866239C>T	uc003ecb.1	+	0	1243	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.D401D	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	401										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAAGTAGACCTCAATTCCA	0.448000														24			12		0	0	0.000978159	0	0
CD72	971	broad.mit.edu	37	9	35612968	35612968	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35612968C>T	uc003zxb.2	-	5	835	c.711G>A	c.(709-711)tgG>tgA	p.W237*	CD72_uc010mkt.1_Nonsense_Mutation_p.W22*|CD72_uc010mku.2_Nonsense_Mutation_p.W237*	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	237	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGCATTATCCATCCCGACG	0.413000														23			47		0	0	0.000781405	0	0
SPAM1	6677	broad.mit.edu	37	7	123595075	123595075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:123595075G>A	uc003vle.3	+	3	1418	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.E327K|SPAM1_uc022aks.1_Missense_Mutation_p.E327K|SPAM1_uc003vlf.4_Missense_Mutation_p.E327K|SPAM1_uc010lku.3_Missense_Mutation_p.E327K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	327					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E327K(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TACATTTGGCGAAACTGTTGC	0.373000														22			27		0	0	0.000878237	0	0
RHOU	58480	broad.mit.edu	37	1	228879431	228879431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228879431G>A	uc001htf.3	+	2	1387	c.721G>A	c.(721-723)Gat>Aat	p.D241N	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	241					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CAGGACTCCAGATAAAATGAA	0.438000														118			28		0	0	0.00178596	0	0
BCL11A	53335	broad.mit.edu	37	2	60689025	60689025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:60689025C>T	uc002sae.1	-	3	1250	c.1022G>A	c.(1021-1023)aGg>aAg	p.R341K	BCL11A_uc002sab.3_Missense_Mutation_p.R341K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.R307K|BCL11A_uc002sad.1_Missense_Mutation_p.R189K|BCL11A_uc002saf.1_Missense_Mutation_p.R307K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	341	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTGCAGTAACCTTTGCATAGG	0.652000			T	IGH@	B-CLL									408			133		0	0	0.000781405	0	0
GGT5	2687	broad.mit.edu	37	22	24616028	24616028	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24616028G>A	uc002zzp.4	-	11	2091	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	GGT5_uc002zzo.4_Silent_p.F557F|GGT5_uc002zzr.4_Silent_p.F525F|GGT5_uc002zzq.4_3'UTR|GGT5_uc011ajm.2_Silent_p.F481F	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	557					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCACGTTCAGGAAGAAGGGCC	0.632000														11			44		0	0	0.000781405	0	0
PLCL1	5334	broad.mit.edu	37	2	198953663	198953664	+	Missense_Mutation	DNP	CG	AT	AT	rs45481595		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:198953663_198953664CG>AT	uc010fsp.3	+	2	3195_3196	c.2797_2798CG>AT	c.(2797-2799)cgg>ATg	p.R933M	PLCL1_uc002uuv.4_Missense_Mutation_p.R854M	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	933					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCTGTCATCTCGGCTCATCACC	0.460000														333			9		0	0	6.4e-05	0	0
TBX21	30009	broad.mit.edu	37	17	45820503	45820503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45820503C>T	uc002ilv.1	+	2	924	c.713C>T	c.(712-714)tCa>tTa	p.S238L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	238					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						CAGGAAGTTTCATTTGGGAAA	0.572000														21			40		0	0	0.00148497	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605858	47605858	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:47605858A>T	uc002xtx.4	+	18	2722	c.2570A>T	c.(2569-2571)aAc>aTc	p.N857I	ARFGEF2_uc010zyf.2_Missense_Mutation_p.N150I	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	857					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)			CTGCTGTACAACTTAGAGATG	0.517000														52			19		0	0	0.000958276	0	0
GFPT2	9945	broad.mit.edu	37	5	179743354	179743354	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:179743354G>A	uc003mlw.1	-	12	1358	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	420	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ACTGGCTGATGAAAAAGCAAA	0.493000														23			7		0	0	0.000157383	0	0
ABCA13	154664	broad.mit.edu	37	7	48314904	48314904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48314904G>A	uc003toq.2	+	16	5665	c.5641G>A	c.(5641-5643)Gaa>Aaa	p.E1881K	ABCA13_uc010kyr.2_Missense_Mutation_p.E1384K|ABCA13_uc022acp.1_Missense_Mutation_p.E380K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1881					transport	integral to membrane	ATP binding|ATPase activity	p.E1826Q(1)|p.E1881Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCGAATGGAAATAACTAG	0.403000														94			11		0	0	0.000978159	0	0
FAT3	120114	broad.mit.edu	37	11	92087984	92087984	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:92087984G>A	uc001pdj.4	+	0	2723	c.2706G>A	c.(2704-2706)ttG>ttA	p.L902L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	902	Cadherin 8.				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)				ATTATTCTTTGAAAATAGAAG	0.438000										TCGA Ovarian(4;0.039)				144			85		0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21225916	21225916	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21225916G>A	uc002red.3	-	28	12506	c.12378C>T	c.(12376-12378)atC>atT	p.I4126I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4126					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)	ACCTCACGTCGATATCATCAA	0.502000														324			99		0	0	0.000781405	0	0
IP6K1	9807	broad.mit.edu	37	3	49770250	49770250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49770250G>A	uc021wyl.1	-	3	1243	c.590C>T	c.(589-591)tCc>tTc	p.S197F	IP6K1_uc003cxm.1_Missense_Mutation_p.S197F|IP6K1_uc003cxn.1_Missense_Mutation_p.S32F	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	197					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						CTTGGACTCGGAGCGCATGCG	0.557000														63			11		0	0	0.00244969	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:114327001C>T	uc003ynu.3	-	1	359	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_uc003ynt.3_Missense_Mutation_p.G27E|CSMD3_uc011lhx.2_Missense_Mutation_p.G67E|CSMD3_uc010mcx.1_Missense_Mutation_p.G67E|CSMD3_uc003ynx.4_Missense_Mutation_p.G67E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	67	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				45			122		0	0	0.000781405	0	0
AXDND1	126859	broad.mit.edu	37	1	179414189	179414189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:179414189G>A	uc001gmo.3	+	15	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	AXDND1_uc001gmn.2_Missense_Mutation_p.E338K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E508K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	550										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						ACATTTACAGGAAAACTGGGC	0.378000														48			61		0	0	0.000781405	0	0
ATP7B	540	broad.mit.edu	37	13	52548313	52548313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52548313G>A	uc001vfw.2	-	1	1200	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Missense_Mutation_p.S348F|ATP7B_uc001vfx.2_Missense_Mutation_p.S348F|ATP7B_uc010tgt.1_Missense_Mutation_p.S348F|ATP7B_uc010tgu.1_Missense_Mutation_p.S348F|ATP7B_uc010tgv.1_Missense_Mutation_p.S348F|ATP7B_uc010tgw.1_Missense_Mutation_p.S316F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	348					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)		TCTCGGTGGGGAGCCAGGGGA	0.532000									Wilson disease					33			31		0	0	0.0024448	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209217485	209217485	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:209217485C>T	uc002vcz.3	+	38	5981	c.5823C>T	c.(5821-5823)ttC>ttT	p.F1941F		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1941	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAAATCTTTTCTACGGGAGAA	0.393000														66			43		0	0	0.000781405	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959969	157959969	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:157959969G>A	uc003wno.3	-	5	685	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PTPRN2_uc003wnp.3_Silent_p.F171F|PTPRN2_uc003wnq.3_Silent_p.F188F|PTPRN2_uc003wnr.3_Silent_p.F150F|PTPRN2_uc011kwa.2_Silent_p.F211F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	188						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCTCTCGGAGAAGCGGTCAT	0.607000														86			25		0	0	0.00209593	0	0
COBL	23242	broad.mit.edu	37	7	51096981	51096981	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:51096981G>A	uc003tps.3	-	10	2168	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	COBL_uc003tpr.4_Silent_p.S604S|COBL_uc011kcl.2_Silent_p.S604S|COBL_uc003tpp.4_Silent_p.S390S|COBL_uc003tpq.4_Silent_p.S545S|COBL_uc003tpo.4_Silent_p.S146S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	604										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGACGTCATGGGAAGCGGGGT	0.547000														83			18		0	0	0.00121646	0	0
PTDSS1	9791	broad.mit.edu	37	8	97299284	97299284	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:97299284C>T	uc003yht.1	+	3	453	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	117					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCTGGTATTCCTACTCTTCC	0.408000														68			103		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10416015	10416015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10416015C>T	uc002gmo.3	-	10	1085	c.991G>A	c.(991-993)Gag>Aag	p.E331K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	331	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						GCCATCAACTCTTCTTGGTCA	0.403000														37			37		0	0	0.00128727	0	0
COL24A1	255631	broad.mit.edu	37	1	86557993	86557993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:86557993C>T	uc001dlj.3	-	5	1685	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	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.G537E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	537	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)		TCCTGGATCTCCTTTGGGGCC	0.313000														49			12		0	0	0.00152264	0	0
XKR7	343702	broad.mit.edu	37	20	30585110	30585110	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:30585110G>A	uc002wxe.3	+	2	1764	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	530						integral to membrane		p.R529H(1)		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)			TGCCTCGCAAGAAGTACCCGG	0.637000														29			84		0	0	0.000781405	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198262	81198262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:81198262G>A	uc002fgh.1	-	19	3332	c.3332C>T	c.(3331-3333)cCc>cTc	p.P1111L	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.	1111	REJ.				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						TATATCCACGGGCTCCTGGCC	0.547000														57			32		0	0	0.000692331	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913548	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16913547_16913548GG>TT	uc009vos.1	-	10	1663_1664	c.775_776CC>AA	c.(775-777)cca>AAa	p.P259K	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	259	NBPF 1.					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)		GAGGCTACCTGGGAGAATGTTT	0.401000														418			10		0	0	6.4e-05	0	0
OR5R1	219479	broad.mit.edu	37	11	56185304	56185304	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56185304C>T	uc010rji.2	-	0	405	c.405G>A	c.(403-405)ctG>ctA	p.L135L	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTTGACATCAGTGTTGAAT	0.458000														24			17		0	0	0.00074312	0	0
DCLK2	166614	broad.mit.edu	37	4	151119159	151119159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:151119159C>T	uc003ilo.4	+	3	1619	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R289C|DCLK2_uc003iln.4_Missense_Mutation_p.R289C	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	289					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTAGAATGTCGTGTCCTGAA	0.408000														39			13		0	0	0.00185496	0	0
PMS2	5395	broad.mit.edu	37	7	6017358	6017358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:6017358G>A	uc003spl.3	-	13	2393	c.2306C>T	c.(2305-2307)tCc>tTc	p.S769F	PMS2_uc003spj.3_Missense_Mutation_p.S663F|PMS2_uc003spk.3_Missense_Mutation_p.S634F|PMS2_uc011jwl.2_Missense_Mutation_p.S634F|PMS2_uc010ktg.3_Missense_Mutation_p.S458F|PMS2_uc010kte.3_Missense_Mutation_p.S368F|PMS2_uc010ktf.2_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	769					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTGGCAAGGAAATCAGTTT	0.463000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					121			18		0	0	0.00188189	0	0
PLB1	151056	broad.mit.edu	37	2	28800975	28800975	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:28800975G>A	uc002rmb.2	+	22	1478	c.1434_splice	c.e22-1	p.E478_splice	PLB1_uc010ezj.2_Splice_Site_p.E489_splice|PLB1_uc002rmc.3_Splice_Site_p.E166_splice|PLB1_uc002rmd.1_Splice_Site	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	478	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTTCCACAGGGATCTACCTGT	0.557000														36			28		0	0	0.00058488	0	0
FGA	2243	broad.mit.edu	37	4	155505773	155505773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:155505773C>T	uc003iod.1	-	5	2162	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	702	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D701D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCCCCTCGTCATTCAGG	0.488000														50			22		0	0	0.00229938	0	0
NTRK3	4916	broad.mit.edu	37	15	88476406	88476406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:88476406C>T	uc002bme.2	-	15	2032	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	NTRK3_uc002bmh.2_Missense_Mutation_p.D568N|NTRK3_uc002bmf.2_Missense_Mutation_p.D576N|NTRK3_uc021sua.1_Missense_Mutation_p.D568N|NTRK3_uc010upl.1_Missense_Mutation_p.D478N|NTRK3_uc010bnh.1_Missense_Mutation_p.D568N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	576	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D576N(3)	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)			AGGGTGGGATCCTTCAGGGCC	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				7			20		0	0	0.00047179	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512659	70512659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:70512659C>T	uc011caq.2	-	1	820	c.704G>A	c.(703-705)aGt>aAt	p.S235N	UGT2A1_uc010ihu.3_Missense_Mutation_p.S235N|UGT2A1_uc003hem.4_Missense_Mutation_p.S235N|UGT2A1_uc010iht.3_Missense_Mutation_p.S235N	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	235					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAAGCTTTACTATAGTATGA	0.323000														19			9		0	0	0.000274275	0	0
MMRN1	22915	broad.mit.edu	37	4	90849068	90849068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:90849068G>A	uc003hst.3	+	4	1149	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	MMRN1_uc010iku.3_Missense_Mutation_p.E326K|MMRN1_uc011cds.2_Missense_Mutation_p.E102K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	360					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCCTCCCTAGAAGGAAAAGT	0.338000														64			26		0	0	0.000878237	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502037	90502037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90502037G>A	uc004app.4	+	3	2670	c.2635G>A	c.(2635-2637)Gcc>Acc	p.A879T	FAM75E1_uc004apo.1_Missense_Mutation_p.A691T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	879						integral to membrane											TACCCCCTGGGCCTCCTGGGT	0.562000														23			16		0	0	0.000566183	0	0
COL5A1	1289	broad.mit.edu	37	9	137623417	137623417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137623417G>A	uc004cfe.3	+	7	1622	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	414	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)		GAACCTTGACGAGAActacta	0.622000														88			36		0	0	0.00111076	0	0
DNAH8	1769	broad.mit.edu	37	6	38705606	38705606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38705606G>A	uc021yzh.1	+	6	1083	c.974G>A	c.(973-975)gGa>gAa	p.G325E	DNAH8_uc003ooe.2_Missense_Mutation_p.G108E	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						AGTATTGAGGGAACAGTGAAG	0.264000														53			30		0	0	0.0024448	0	0
NHSL2	340527	broad.mit.edu	37	X	71359742	71359742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:71359742G>A	uc011mqa.2	+	5	2344	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	NHSL2_uc004eak.1_Missense_Mutation_p.D416N|NHSL2_uc010nli.2_Missense_Mutation_p.D551N	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	782										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ACCCAACCTGGATCTGTCTGG	0.498000														3			13		0	0	0.000308642	0	0
SPRED1	161742	broad.mit.edu	37	15	38643461	38643461	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:38643461T>A	uc001zka.4	+	6	1266	c.931T>A	c.(931-933)Ttt>Att	p.F311I		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	311					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)		CTCTGTGGTATTTAAGACGCA	0.388000									Legius syndrome					7			21		0	0	0.00121646	0	0
LRRC31	79782	broad.mit.edu	37	3	169578450	169578451	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:169578450_169578451CC>TT	uc003fgc.1	-	2	450_451	c.385_386GG>AA	c.(385-387)gga>AAa	p.G129K	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	129										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AAGGAGGGTTCCACCTACAAAA	0.450000														40			51		0	0	6.4e-05	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353036	42353036	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42353036C>T	uc010xwe.2	+	4	704	c.621C>T	c.(619-621)ccC>ccT	p.P207P	DMRTC2_uc002orr.1_Silent_p.P84P|DMRTC2_uc002ors.3_Silent_p.P207P	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	207	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CTCTGCCTCCCTTCCCTGGTA	0.527000														64			51		0	0	0.000781405	0	0
IRX6	79190	broad.mit.edu	37	16	55363139	55363139	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:55363139C>T	uc002ehy.3	+	4	1782	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	IRX6_uc002ehx.3_Silent_p.L417L	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	417						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642000														55			22		0	0	0.00278032	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024737	203024737	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203024737C>T	uc009xaj.3	+	20	2382	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	PPFIA4_uc010pqf.2_Silent_p.S376S|PPFIA4_uc001gyz.3_Silent_p.S163S|PPFIA4_uc001gza.3_Silent_p.S163S|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	163					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGCCGCTCCACACCTAAGC	0.657000														55			16		0	0	0.00074312	0	0
SUN3	256979	broad.mit.edu	37	7	48046893	48046893	+	Missense_Mutation	SNP	G	A	A	rs139673000		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48046893G>A	uc003tof.3	-	5	458	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	SUN3_uc010kyq.3_Missense_Mutation_p.R21C|SUN3_uc003tog.3_Missense_Mutation_p.R121C|SUN3_uc011kcf.2_Missense_Mutation_p.R109C	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	121						integral to membrane		p.R121C(2)|p.R121H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAATTTGACGAAAATTGTTT	0.403000														74			10		0	0	0.000442599	0	0
BTBD1	53339	broad.mit.edu	37	15	83718918	83718918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:83718918C>T	uc002bjn.3	-	2	774	c.571G>A	c.(571-573)Gat>Aat	p.D191N	BTBD1_uc002bjo.3_Missense_Mutation_p.D191N	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	191						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TGAGGTTCATCAAATAATCGA	0.303000														10			29		0	0	0.00178596	0	0
ANK3	288	broad.mit.edu	37	10	61831209	61831209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:61831209G>A	uc001jky.3	-	36	9768	c.9430C>T	c.(9430-9432)Ccc>Tcc	p.P3144S	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.	3144					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						CTACCTTGGGGAGAAGGAGGT	0.433000														28			32		0	0	0.00209593	0	0
SYT16	83851	broad.mit.edu	37	14	62547804	62547804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:62547804G>A	uc001xfu.1	+	3	1443	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	416	C2 1.							p.R416H(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)		CGTCTTCAGGGAGAAGGTCAC	0.572000														16			4		0	0	0.00024832	0	0
PKHD1	5314	broad.mit.edu	37	6	51944766	51944766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51944766C>T	uc003pah.1	-	4	598	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PKHD1_uc003pai.3_Missense_Mutation_p.E108K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	108	IPT/TIG 1; atypical.				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)					AAGTATGCTTCCAGGAAGTAC	0.468000														47			24		0	0	0.000720815	0	0
MYLK4	340156	broad.mit.edu	37	6	2683260	2683260	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:2683260G>A	uc003mty.4	-	6	979	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	228	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTACCTTCAGGTCCAAGTGG	0.478000														98			30		0	0	0.00209593	0	0
MMP27	64066	broad.mit.edu	37	11	102573820	102573820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:102573820C>T	uc001phd.1	-	2	394	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	124					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACAGCAGCTCGTGCCATATC	0.358000														24			31		0	0	0.00058488	0	0
WNK3	65267	broad.mit.edu	37	X	54259292	54259292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:54259292C>T	uc004dtc.2	-	20	5229	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_uc004dtd.2_Missense_Mutation_p.R1550Q	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R1597*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418000														50			45		0	0	0.000781405	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962038	10962038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:10962038G>A	uc001qyx.3	-	0	730	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	213					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCATGCAGTCGAATCTGCTTG	0.488000														2			12		0	0	0.000978159	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883525	173883525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:173883525G>A	uc002uhv.4	+	21	2337	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	RAPGEF4_uc002uhw.4_Missense_Mutation_p.G573E	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	717					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGAGTTCCGGAGGAGGTAAC	0.502000														66			60		0	0	0.000781405	0	0
AMPH	273	broad.mit.edu	37	7	38431535	38431535	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:38431535C>T	uc003tgu.3	-	18	1908	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E	AMPH_uc003tgv.3_Silent_p.E522E|AMPH_uc003tgt.3_Silent_p.E449E|AMPH_uc003tgw.1_Silent_p.E587E|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	564					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.A563V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCTCCTTGGGCTCTGCACCTA	0.592000														62			12		0	0	0.000978159	0	0
VWA5A	4013	broad.mit.edu	37	11	124012423	124012423	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124012423A>G	uc001pzu.3	+	15	2207	c.1998A>G	c.(1996-1998)atA>atG	p.I666M	VWA5A_uc001pzt.3_Missense_Mutation_p.I666M	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	666										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTGGGTTGATAAGTCACAAGG	0.448000														30			29		0	0	0.000692331	0	0
LAMA1	284217	broad.mit.edu	37	18	7050746	7050746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7050746C>T	uc002knm.3	-	3	629	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	179	Laminin N-terminal.				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)	CAGATCACTTCATCATCAGCC	0.507000														65			13		0	0	0.00136819	0	0
DNM1	1759	broad.mit.edu	37	9	131002264	131002264	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:131002264G>A	uc022bob.1	+	14	1633	c.1546_splice	c.e14-1	p.D516_splice	DNM1_uc022bny.1_Splice_Site_p.D516_splice|DNM1_uc022bnz.1_Intron|DNM1_uc022boa.1_Intron|DNM1_uc004bub.1_5'Flank|DNM1_uc004buc.1_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	516					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCTTTGCAGGATGAGATTCT	0.602000														132			40		0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163241264	163241264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163241264C>T	uc002uch.2	-	12	3125	c.2896G>A	c.(2896-2898)Gat>Aat	p.D966N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	966					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)	TCTTCAAAATCGAGCCCAGAT	0.438000														34			29		0	0	0.00106085	0	0
SASH3	54440	broad.mit.edu	37	X	128924974	128924974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:128924974G>A	uc004euu.3	+	3	541	c.359G>A	c.(358-360)aGc>aAc	p.S120N	SASH3_uc011muo.1_Missense_Mutation_p.S37N	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	120										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGCCTGGACAGCCCTGGCCCT	0.617000														3			55		0	0	0.000781405	0	0
OR4F15	390649	broad.mit.edu	37	15	102359018	102359018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:102359018C>T	uc010uts.2	+	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTGTGGGCTCCTTTGTCTTG	0.473000														76			23		0	0	0.000720815	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972511	35972511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35972511G>A	uc001byx.3	-	2	626	c.368C>T	c.(367-369)tCc>tTc	p.S123F	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.S123F	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	123	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAATTGGAGGAGTGTGTCCT	0.502000														101			28		0	0	0.00106085	0	0
GJA8	2703	broad.mit.edu	37	1	147381047	147381047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147381047C>T	uc021ovm.1	+	0	965	c.965C>T	c.(964-966)tCc>tTc	p.S322F	GJA8_uc001epu.2_Missense_Mutation_p.S322F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	322					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACACTGCCTTCCTACGCTCAG	0.627000														37			5		0	0	0.00116845	0	0
DDI1	414301	broad.mit.edu	37	11	103908105	103908105	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:103908105G>A	uc001phr.2	+	0	798	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	185					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTGATGGAGCAGCAAAGGG	0.567000														30			21		0	0	0.00152264	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872050	108872051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108872050_108872051CC>TT	uc010ywo.2	+	3	422_423	c.422_423CC>TT	c.(421-423)ccc>cTT	p.P141L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCCAGAAATCCCAAGGATTGCC	0.421000														46			12		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237415	140237415	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140237415C>T	uc003lhx.2	+	0	1782	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	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_uc011dad.2_Silent_p.R594R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	608	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)			CTAAGGTGCGCGCAGTGGACG	0.672000														23			14		0	0	0.00185496	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822121	24822121	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24822121G>A	uc001iru.4	+	15	3772	c.3369G>A	c.(3367-3369)gaG>gaA	p.E1123E	KIAA1217_uc001irs.3_Silent_p.E1043E|KIAA1217_uc001irt.4_Silent_p.E1088E|KIAA1217_uc010qcy.2_Silent_p.E1087E|KIAA1217_uc010qcz.2_Silent_p.E1088E|KIAA1217_uc001irw.3_Silent_p.E806E|KIAA1217_uc001irz.3_Silent_p.E806E|KIAA1217_uc001irx.3_Silent_p.E806E|KIAA1217_uc001iry.3_Silent_p.E806E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1123					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						CAAAGGATGAGGAGGAAGAAG	0.547000														20			13		0	0	0.000308642	0	0
OR2F1	26211	broad.mit.edu	37	7	143657257	143657257	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143657257A>C	uc003wds.1	+	0	238	c.194A>C	c.(193-195)aAc>aCc	p.N65T		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.502000														182			42		0	0	0.000781405	0	0
PDE6B	5158	broad.mit.edu	37	4	650810	650810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:650810G>A	uc003gap.3	+	8	1308	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	PDE6B_uc003gao.4_Missense_Mutation_p.E419K|PDE6B_uc011buy.2_Missense_Mutation_p.E140K|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	419	GAF 2.				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						GGTTCTCATGGAGGTAAGCAC	0.612000														35			12		0	0	0.000422831	0	0
MRPL20	55052	broad.mit.edu	37	1	1341166	1341166	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:1341166G>T	uc010nyn.1	-	2	395	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	MRPL20_uc001afo.4_Intron	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAATTTCAGTGGGACCCACAT	0.512000														234			8		0.000442599	0.00160545	0.000442599	1	0
KLF17	128209	broad.mit.edu	37	1	44595390	44595390	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:44595390G>A	uc001clp.3	+	1	505	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLF17_uc009vxf.1_Silent_p.G112G	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	149					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G149R(1)		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)					CCTTCGGTGGGAATCTAAGGA	0.567000														20			19		0	0	0.00074312	0	0
RYR1	6261	broad.mit.edu	37	19	38959949	38959949	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38959949C>T	uc002oit.3	+	26	3691	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	RYR1_uc002oiu.3_Silent_p.F1187F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1187	6 X approximate repeats.|B30.2/SPRY 2.				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)	cACCAGGCTTCCTGCCCGTCT	0.647000														52			40		0	0	0.00148497	0	0
SELRC1	65260	broad.mit.edu	37	1	53153603	53153604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53153603_53153604GG>AA	uc001cui.2	-	2	524_525	c.484_485CC>TT	c.(484-486)cca>TTa	p.P162L		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.	162							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGGAAAGCCTGGGGCACCCTGC	0.545000														41			54		0	0	6.4e-05	0	0
BAI1	575	broad.mit.edu	37	8	143569868	143569868	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143569868G>A	uc003ywm.3	+	13	2635	c.2452_splice	c.e13+1	p.E818_splice		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	818					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGGCTGACAGGTGAGGGGCC	0.652000														38			7		0	0	0.000442599	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2568691	2568691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:2568691C>T	uc002fuw.4	+	2	626	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	PAFAH1B1_uc010ckb.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	20	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).|LisH.|Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity).				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGATTATCTTCGTTCAAATGG	0.274000														35			21		0	0	0.000720815	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638748	18638748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18638748C>T	uc010cqg.1	+	6	1362	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	TRIM16L_uc010vyf.1_Missense_Mutation_p.P395L|TRIM16L_uc002gug.1_Missense_Mutation_p.P341L|TRIM16L_uc002guh.1_Missense_Mutation_p.P341L|TRIM16L_uc002gui.1_Missense_Mutation_p.P341L|TRIM16L_uc010vyg.1_Missense_Mutation_p.P341L|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	341						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAGCCAGCACCGTCCTTGGTG	0.522000														1			17		0	0	0.00106085	0	0
FCGR1B	2210	broad.mit.edu	37	1	120930086	120930086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:120930086C>T	uc001eip.3	-	3	565	c.515G>A	c.(514-516)gGa>gAa	p.G172E	FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Missense_Mutation_p.G80E|FCGR1B_uc009whr.2_Missense_Mutation_p.G172E|FCGR1B_uc009whs.2_Missense_Mutation_p.G173E	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA.	172	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)		GCGATGCTTTCCCATGCCTGA	0.433000														191			30		0	0	0.0025221	0	0
SCN11A	11280	broad.mit.edu	37	3	38968341	38968341	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38968341G>A	uc021wvy.1	-	3	769	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	190					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)	GATCTCGAAGGAAAGAAAACT	0.368000														116			35		0	0	0.00283554	0	0
ECHS1	1892	broad.mit.edu	37	10	135179550	135179550	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:135179550G>A	uc001lmu.3	-	5	740	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	223					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CTGCACACTGGATGGCTTCTT	0.448000														77			19		0	0	0.000958276	0	0
FKBP9L	360132	broad.mit.edu	37	7	55766705	55766705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:55766705C>T	uc010kzl.3	-	1	179	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K						Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						CCTCTTCCTTCCTCTCCATAC	0.507000														18			14		0	0	0.00185496	0	0
SLFN11	91607	broad.mit.edu	37	17	33680930	33680930	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33680930C>T	uc002hjg.4	-	3	1594	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	SLFN11_uc010ctr.3_Silent_p.L449L|SLFN11_uc010ctp.3_Silent_p.L449L|SLFN11_uc010ctq.3_Silent_p.L449L|SLFN11_uc002hjh.4_Silent_p.L449L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	449						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)		CCTGCAAGTTCAGGTCCACAG	0.473000														42			27		0	0	0.00209593	0	0
UBR1	197131	broad.mit.edu	37	15	43339438	43339438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43339438G>A	uc001zqq.3	-	13	1655	c.1589C>T	c.(1588-1590)cCt>cTt	p.P530L	UBR1_uc010udk.1_Missense_Mutation_p.P530L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	530					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)		CTCCCAATCAGGATCCACTTC	0.418000														57			118		0	0	0.000781405	0	0
ZNF236	7776	broad.mit.edu	37	18	74563788	74563788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:74563788C>T	uc002lmi.3	+	2	448	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.H84Y	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	84					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)		CCTGACACTTCATAAATGCAC	0.428000														41			19		0	0	0.00152264	0	0
C15orf2	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:24922679C>T	uc001ywo.3	+	0	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	555					cell differentiation|multicellular organismal development|spermatogenesis			p.S555S(2)		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)		CAGTCATTTCCACTGTCACAA	0.488000														68			27		0	0	0.000878237	0	0
COL5A1	1289	broad.mit.edu	37	9	137653774	137653774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137653774G>A	uc004cfe.3	+	18	2321	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	647	Triple-helical 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)		TTCCTAGGGTGACCCTGGTCC	0.567000														55			34		0	0	0.00170553	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	A	A	rs138821621		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:107450509G>A	uc002tdq.3	-	2	1156	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(4)		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						TCTTACCTGCGAATTAATGAT	0.393000														79			87		0	0	0.000781405	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123497	140123497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:140123497G>A	uc003etn.3	+	3	716	c.526G>A	c.(526-528)Gac>Aac	p.D176N	CLSTN2_uc003etm.2_Missense_Mutation_p.D176N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	176	Cadherin 2.				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						CAAGATCTATGACAGCATTCT	0.527000										HNSCC(16;0.037)				49			23		0	0	0.000586117	0	0
ADNP2	22850	broad.mit.edu	37	18	77895177	77895177	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:77895177C>T	uc002lnw.3	+	3	2336	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	627					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGCCGGTTCCCCCTGGAGGCC	0.617000														48			12		0	0	0.00136819	0	0
SCN9A	6335	broad.mit.edu	37	2	167055909	167055909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:167055909G>A	uc010fpl.3	-	26	5548	c.5207C>T	c.(5206-5208)tCc>tTc	p.S1736F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1747						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)	AACCAGGAAGGATATGATGAT	0.403000														120			135		0	0	0.000781405	0	0
WDR78	79819	broad.mit.edu	37	1	67340619	67340619	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:67340619A>T	uc001dcx.3	-	5	700	c.644_splice	c.e5-1	p.D215_splice	WDR78_uc001dcy.3_Splice_Site_p.D215_splice|WDR78_uc009waw.3_Splice_Site|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAACTTGCAAATCTAAAATAC	0.294000														18			11		0	0	0.00244969	0	0
CPA3	1359	broad.mit.edu	37	3	148586804	148586804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148586804G>A	uc003ewm.3	+	2	299	c.247G>A	c.(247-249)Gat>Aat	p.D83N		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	83					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTCTGCCTTGGATCAAAATAA	0.413000														30			17		0	0	0.00152264	0	0
NAA16	79612	broad.mit.edu	37	13	41949637	41949637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:41949637C>T	uc001uyf.2	+	19	2818	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	832					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAACCTGCTTCCTTTTACATC	0.408000														32			29		0	0	0.00209593	0	0
FANCG	2189	broad.mit.edu	37	9	35078706	35078706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35078706G>A	uc003zwb.1	-	2	695	c.203C>T	c.(202-204)cCc>cTc	p.P68L	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.P68L	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	68					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGCTCCAAGGGAAGAACAGG	0.532000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						60			8		0	0	0.000442599	0	0
FMN2	56776	broad.mit.edu	37	1	240371584	240371584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:240371584C>T	uc010pye.2	+	5	3709	c.3484C>T	c.(3484-3486)Ccc>Tcc	p.P1162S	FMN2_uc010pyd.2_Missense_Mutation_p.P1158S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1158	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)			GCCCCCACTTCCCGGAGCGGG	0.706000														6			3		0	0	6.4e-05	0	0
WNT5A	7474	broad.mit.edu	37	3	55504257	55504257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:55504257C>T	uc003dhn.3	-	4	1324	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	WNT5A_uc003dhm.3_Missense_Mutation_p.E321K|WNT5A_uc010hmw.3_Missense_Mutation_p.E321K|WNT5A_uc010hmx.3_Missense_Mutation_p.E247K	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	336					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACATGAGCTCGCAGCCATCC	0.637000														72			22		0	0	0.00106085	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852383	144852383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:144852383G>A	uc021ouh.1	-	43	7362	c.7060C>T	c.(7060-7062)Ccc>Tcc	p.P2354S	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_3'UTR|PDE4DIP_uc001elx.4_3'UTR|PDE4DIP_uc001elv.4_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, 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)		ACAAAAGGGGGACAGGCCCAC	0.557000			T	PDGFRB	MPD									56			13		0	0	0.00185496	0	0
AARS2	57505	broad.mit.edu	37	6	44271982	44271982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:44271982G>A	uc010jza.1	-	13	1946	c.1943C>T	c.(1942-1944)cCt>cTt	p.P648L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	648					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)		L-Alanine(DB00160)	CTCTGTGCCAGGGCCCAGGGT	0.607000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			20		0	0	0.00121646	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:88425751C>T	uc002sst.2	-	1	298	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000														151			111		0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57829200	57829200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:57829200G>A	uc002yan.3	+	4	4436	c.4436G>A	c.(4435-4437)gGa>gAa	p.G1479E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1479						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)					GGGTCCAAAGGAACTTTTCCC	0.493000														87			39		0	0	0.00285205	0	0
THEMIS	387357	broad.mit.edu	37	6	128134490	128134491	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128134490_128134491TC>AT	uc011ebt.2	-	3	1444_1445	c.1295_1296GA>AT	c.(1294-1296)gga>gAT	p.G432D	THEMIS_uc010kfa.3_Missense_Mutation_p.G335D|THEMIS_uc021zfa.1_Missense_Mutation_p.G432D|THEMIS_uc010kfb.3_Missense_Mutation_p.G397D	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	432	CABIT 2.				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						CTACAAAACCTCCTTCCATGTA	0.446000														23			18		0	0	6.4e-05	0	0
FBXL13	222235	broad.mit.edu	37	7	102495290	102495290	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:102495290G>T	uc003vaq.2	-	16	2080	c.1653C>A	c.(1651-1653)tcC>tcA	p.S551S	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.S551S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	551										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTTATGTCTGGAAAGCACAT	0.264000														4			15		1.49906e-05	5.45703e-05	0.00244969	1	0
SNRNP35	11066	broad.mit.edu	37	12	123950399	123950399	+	Silent	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:123950399C>G	uc021rfv.1	+	1	377	c.327C>G	c.(325-327)gcC>gcG	p.A109A	SNRNP35_uc001ufb.1_Silent_p.A104A|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Silent_p.A104A	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	104	RRM.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGAGCGTGCCGTGATCAAAG	0.527000														42			76		0	0	0.000781405	0	0
OR4X2	119764	broad.mit.edu	37	11	48267404	48267404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48267404C>T	uc001ngs.1	+	0	749	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCTTCAACTCTCTGAGGCCT	0.522000														13			5		0	0	0.00116845	0	0
RAB27B	5874	broad.mit.edu	37	18	52544899	52544899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52544899G>A	uc002lfr.3	+	1	326	c.83G>A	c.(82-84)aGa>aAa	p.R28K		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	28					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TTTCTTTATAGATACACAGAT	0.413000														35			19		0	0	0.00074312	0	0
MGAM	8972	broad.mit.edu	37	7	141799458	141799458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141799458C>T	uc003vwy.3	+	43	5161	c.5107C>T	c.(5107-5109)Cct>Tct	p.P1703S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1703	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTGCCAGCCCCTCTTGACCA	0.527000														60			28		0	0	0.00127121	0	0
IL31	386653	broad.mit.edu	37	12	122658458	122658458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122658458C>T	uc001ubv.3	-	1	125	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.	33						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ATCACTTGGTCGTAGTAAACG	0.502000														29			51		0	0	0.000781405	0	0
OR2L13	284521	broad.mit.edu	37	1	248263173	248263173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248263173C>T	uc001ids.3	+	2	833	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	OR2L13_uc021pmc.1_Missense_Mutation_p.P166S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTCATATTCCCTACTGCAG	0.458000														136			37		0	0	0.00148497	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879333	24879333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24879333C>T	uc001wpf.4	+	3	2651	c.2333C>T	c.(2332-2334)cCc>cTc	p.P778L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	778					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGAATACACCCTTCGAGCTG	0.632000														34			12		0	0	0.00136819	0	0
WARS2	10352	broad.mit.edu	37	1	119576822	119576822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:119576822G>A	uc001ehn.3	-	4	558	c.530C>T	c.(529-531)cCt>cTt	p.P177L	WARS2_uc010oxf.2_Missense_Mutation_p.P83L|WARS2_uc001ehm.3_Missense_Mutation_p.P177L|WARS2_uc010oxg.2_Missense_Mutation_p.P120L|WARS2_uc010oxh.2_Silent_p.S148S|WARS2_uc010oxi.2_Silent_p.S54S	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTCCCCAACAGGAACGTGTGT	0.443000														88			16		0	0	0.000566183	0	0
PPM1H	57460	broad.mit.edu	37	12	63225927	63225927	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:63225927G>A	uc001srk.3	-	1	527	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	126							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTTCCCCATTGGGAAGGGAGG	0.552000														10			23		0	0	0.00106085	0	0
DNAH9	1770	broad.mit.edu	37	17	11872753	11872753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:11872753G>A	uc002gne.3	+	68	13438	c.13370G>A	c.(13369-13371)gGa>gAa	p.G4457E	DNAH9_uc010coo.3_Missense_Mutation_p.G3675E|DNAH9_uc002gnf.3_Missense_Mutation_p.G769E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4457					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)		AGTCAGCGGGGACCCACCTAC	0.517000														0			33		0	0	0.0024448	0	0
PAPPA	5069	broad.mit.edu	37	9	119115011	119115011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:119115011G>A	uc004bjn.3	+	15	4372	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	PAPPA_uc011lxq.2_Missense_Mutation_p.E706K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1331	Sushi 2.				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						GACCTGCATGGAGGATGGGCT	0.587000														56			25		0	0	0.00106085	0	0
CNGB3	54714	broad.mit.edu	37	8	87738832	87738832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:87738832G>A	uc003ydx.3	-	2	313	c.265C>T	c.(265-267)Caa>Taa	p.Q89*		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	89					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTGCATTTTGAGGGTCAGGG	0.413000														166			58		0	0	0.000781405	0	0
KRT32	3882	broad.mit.edu	37	17	39623483	39623483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39623483C>T	uc002hwr.3	-	0	156	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	32	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R32R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CAGCTCAGGCCGGCAGTTCAC	0.632000														50			31		0	0	0.00209593	0	0
COLEC10	10584	broad.mit.edu	37	8	120114604	120114604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:120114604G>A	uc003yoo.3	+	3	407	c.310G>A	c.(310-312)Ggt>Agt	p.G104S		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	104	Collagen-like.					collagen|cytoplasm	mannose binding	p.G104fs*39(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGGGGAAAAAGGTTTGCTTGG	0.323000														20			6		0	0	0.000673444	0	0
TRPV6	55503	broad.mit.edu	37	7	142570143	142570143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142570143C>T	uc003wbx.2	-	13	2106	c.1877G>A	c.(1876-1878)gGa>gAa	p.G626E	TRPV6_uc003wbw.1_Missense_Mutation_p.G412E|TRPV6_uc010lou.1_Missense_Mutation_p.G497E	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	626					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGCGGTCTCCCAGGCCATA	0.647000														15			14		0	0	0.00244969	0	0
MAN2B1	4125	broad.mit.edu	37	19	12769085	12769085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12769085G>A	uc002mub.2	-	8	1259	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	MAN2B1_uc010dyv.1_Missense_Mutation_p.R394W	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	395					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						AGGGCCGGCCGACTGGAAAAG	0.632000														38			27		0	0	0.00178596	0	0
DNM1	1759	broad.mit.edu	37	9	130982548	130982548	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:130982548C>T	uc022bob.1	+	5	864	c.777C>T	c.(775-777)ttC>ttT	p.F259F	DNM1_uc022bnx.1_Silent_p.F259F|DNM1_uc022bny.1_Silent_p.F259F|DNM1_uc022bnz.1_Silent_p.F259F|DNM1_uc022boa.1_Silent_p.F259F	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	259					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAAAGTTCTTCCTCTCCCATC	0.557000														120			32		0	0	0.00058488	0	0
SMG1	23049	broad.mit.edu	37	16	18856882	18856882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:18856882C>T	uc002dfm.3	-	38	6451	c.6088G>A	c.(6088-6090)Gct>Act	p.A2030T	SMG1_uc010bwb.3_Missense_Mutation_p.A1890T|SMG1_uc010bwa.3_Missense_Mutation_p.A761T|SMG1_uc021ted.1_Missense_Mutation_p.A328T	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2030					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						TCTGCAGGAGCCGCTGTGATA	0.438000														92			38		0	0	0.00195071	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719522	50719522	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50719522G>A	uc003bkv.4	-	22	3852	c.3759C>T	c.(3757-3759)ttC>ttT	p.F1253F	PLXNB2_uc003bkt.1_Silent_p.F45F|PLXNB2_uc003bku.1_Silent_p.F238F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1253					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)		CCCTACCTGTGAATTCCTTCT	0.662000														25			5		0	0	0.000602214	0	0
IL33	90865	broad.mit.edu	37	9	6256006	6256006	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:6256006C>T	uc003zjt.3	+	7	729	c.651C>T	c.(649-651)ttC>ttT	p.F217F	IL33_uc011lmg.2_Silent_p.F175F|IL33_uc011lmh.2_Silent_p.F91F|IL33_uc022bdf.1_Silent_p.F175F	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	217					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACCAGGCCTTCTTTGTCCTTC	0.403000														4			20		0	0	0.00047179	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980222	7980222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7980222C>T	uc010sgh.2	-	5	868	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SLC2A14_uc001qtk.3_Missense_Mutation_p.D268N|SLC2A14_uc001qtl.3_Missense_Mutation_p.D245N|SLC2A14_uc001qtm.3_Missense_Mutation_p.D245N|SLC2A14_uc010sgg.2_Missense_Mutation_p.D159N|SLC2A14_uc001qtn.3_Missense_Mutation_p.D268N|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	268					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)		GCACTCTCATCTTTCATCTCC	0.493000														41			14		0	0	0.00229938	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631072	32631072	+	Missense_Mutation	SNP	C	T	T	rs140177779		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32631072C>T	uc003ami.3	-	7	675	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	225					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTCCAACTTCGTTAAATGCT	0.428000														43			84		0	0	0.000781405	0	0
CUZD1	50624	broad.mit.edu	37	10	124593228	124593228	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124593228G>A	uc001lgs.3	-	9	2562	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	CUZD1_uc001lgp.3_Silent_p.P256P|CUZD1_uc009yad.3_Silent_p.P256P|CUZD1_uc009yaf.3_Silent_p.P171P|CUZD1_uc001lgr.3_Silent_p.P256P|CUZD1_uc010qty.2_Silent_p.P256P|CUZD1_uc009yae.3_Silent_p.P256P|CUZD1_uc010qtz.2_Silent_p.P537P	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	537					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAGACGAATGGGTCCTATGA	0.418000														118			31		0	0	0.00209593	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866032	30866032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30866032G>A	uc003ahy.3	-	3	297	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.H11Y|SEC14L3_uc003aib.3_Missense_Mutation_p.H11Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	70						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)	TCAAGGATATGGTCAATATCC	0.537000														156			155		0	0	0.000781405	0	0
KLHL4	56062	broad.mit.edu	37	X	86888766	86888766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:86888766G>A	uc004efa.2	+	7	1749	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	KLHL4_uc004efb.2_Missense_Mutation_p.G523R	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	523						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G523G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACTCTTGAAGGACCAATGTA	0.403000														19			13		0	0	0.000422831	0	0
OSMR	9180	broad.mit.edu	37	5	38886271	38886271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:38886271C>T	uc003jln.2	+	6	1372	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	OSMR_uc003jlm.2_Missense_Mutation_p.L324F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	324					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)					TGTCAATATCCTTTTTAACCT	0.403000														40			15		0	0	0.000566183	0	0
TADA3	10474	broad.mit.edu	37	3	9831419	9831419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:9831419G>A	uc003bsx.1	-	2	984	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	TADA3_uc010hcn.1_Missense_Mutation_p.P146S|TADA3_uc003bsy.3_Missense_Mutation_p.P146S|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	146					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCATTTTTGGGGATCCGTGGC	0.587000														82			64		0	0	0.000781405	0	0
GNB5	10681	broad.mit.edu	37	15	52446245	52446245	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:52446245G>A	uc002abt.1	-	3	332	c.267C>T	c.(265-267)gcC>gcT	p.A89A	GNB5_uc002abr.1_Silent_p.A47A|GNB5_uc002abs.1_Silent_p.A47A|GNB5_uc002abu.3_Silent_p.A47A	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	89						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ACTGCCCCAGGGCCTCCACCC	0.572000														13			6		0	0	0.00198382	0	0
PID1	55022	broad.mit.edu	37	2	229890776	229890776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:229890776C>T	uc002vpr.4	-	2	363	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	PID1_uc002vps.4_Missense_Mutation_p.G107S|PID1_uc002vpt.4_Missense_Mutation_p.G76S|PID1_uc002vpu.4_Missense_Mutation_p.G27S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	109	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)		TCTGTGCAGCCTGACAAAAAC	0.532000														62			24		0	0	0.000720815	0	0
BCL9	607	broad.mit.edu	37	1	147096628	147096628	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147096628C>T	uc001epq.3	+	9	4889	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	BCL9_uc010ozr.1_Silent_p.S1297S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1383					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)					TGATGATGTCCATGCAGGGCA	0.627000			T	"""IGH@, IGL@"""	B-ALL									37			14		0	0	0.00244969	0	0
ABP1	26	broad.mit.edu	37	7	150558147	150558147	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150558147C>T	uc003why.1	+	5	6324	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ABP1_uc003whz.1_Silent_p.F702F|ABP1_uc003wia.1_Silent_p.F721F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	702					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCAACTTCTTCCCAGAGGACC	0.617000														44			22		0	0	0.00278032	0	0
C1orf144	26099	broad.mit.edu	37	1	16721659	16721659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16721659C>T	uc010ocb.1	+	3	550	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	C1orf144_uc001aym.4_3'UTR|C1orf144_uc001ayi.4_3'UTR|C1orf144_uc001ayk.4_3'UTR|C1orf144_uc021ogn.1_5'Flank	NM_015609	NP_056424	Q7Z422	CA144_HUMAN	Homo sapiens chromosome 1 open reading frame 144 (C1orf144), transcript variant 2, mRNA.	0										cervix(1)|lung(1)|ovary(1)|urinary_tract(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATGCCGCCGTTGCTGCCG	0.572000														22			5		0	0	0.00116845	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880414	15880414	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15880414C>T	uc002nbo.3	-	7		c.1281G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TCTTTAGGATCGCGGTCCTTC	0.562000														66			18		0	0	0.00152264	0	0
DNMT3B	1789	broad.mit.edu	37	20	31394046	31394046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31394046C>T	uc002wyc.3	+	21	2654	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	DNMT3B_uc002wyd.3_Missense_Mutation_p.S758L|DNMT3B_uc002wye.3_Intron|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Intron|DNMT3B_uc002wyf.3_Missense_Mutation_p.S770L|DNMT3B_uc002wyg.3_Intron|DNMT3B_uc010geg.3_Intron|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	778					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCACCAAGTCGAACTCGATC	0.448000														47			13		0	0	0.00185496	0	0
GABRA6	2559	broad.mit.edu	37	5	161119131	161119131	+	Silent	SNP	G	A	A	rs144044129		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:161119131G>A	uc003lyu.2	+	7	1349	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	GABRA6_uc003lyv.2_Silent_p.R108R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	337					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R337R(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGCCAAAAGGAAGGCACAGT	0.418000										TCGA Ovarian(5;0.080)				48			24		0	0	0.000586117	0	0
CCKAR	886	broad.mit.edu	37	4	26483310	26483310	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26483310G>A	uc003gse.1	-	4	1390	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	413					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)	AACCTGGACAGAGAGGCTCCT	0.657000														71			35		0	0	0.000692331	0	0
CNKSR3	154043	broad.mit.edu	37	6	154567812	154567812	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:154567812C>T	uc021zhc.1	-	14	2047	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpw.3_Silent_p.K53K|CNKSR3_uc003qpx.3_Silent_p.K52K|CNKSR3_uc010kjh.3_Silent_p.K53K|CNKSR3_uc021zhd.1_Silent_p.K97K|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	292	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTCCCTTTTCCTTTTTCTTAT	0.438000														24			18		0	0	0.00152264	0	0
DDX27	55661	broad.mit.edu	37	20	47845304	47845304	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:47845304C>T	uc002xuh.3	+	7	913	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	284	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTATAAACCCCGCCAGGCTC	0.577000														140			43		0	0	0.000680045	0	0
DGKG	1608	broad.mit.edu	37	3	186015231	186015231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:186015231C>T	uc003fqa.3	-	4	889	c.352G>A	c.(352-354)Gag>Aag	p.E118K	DGKG_uc003fqb.3_Missense_Mutation_p.E118K|DGKG_uc003fqc.3_Missense_Mutation_p.E118K|DGKG_uc011brx.2_Missense_Mutation_p.E118K	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	118					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCACAGGCCTCGTCTGCTTTG	0.448000														75			32		0	0	0.00111076	0	0
ZNF292	23036	broad.mit.edu	37	6	87967944	87967944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:87967944G>A	uc003plm.4	+	7	4638	c.4597G>A	c.(4597-4599)Gta>Ata	p.V1533I		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1533					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)		AAATCCAACTGTACCACCCCT	0.463000														5			11		0	0	0.000978159	0	0
SAGE1	55511	broad.mit.edu	37	X	134994479	134994479	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:134994479G>A	uc004ezh.3	+	19	2689	c.2522_splice	c.e19-1	p.N841_splice	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Splice_Site_p.N465_splice	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	841										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)					AATATCTTCAGATTATGAAAG	0.313000														3			57		0	0	0.000781405	0	0
AFF2	2334	broad.mit.edu	37	X	148037775	148037775	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:148037775C>G	uc004fcp.3	+	10	2679	c.2200C>G	c.(2200-2202)Cct>Gct	p.P734A	AFF2_uc004fcq.3_Missense_Mutation_p.P724A|AFF2_uc004fcr.3_Missense_Mutation_p.P695A|AFF2_uc011mxb.2_Missense_Mutation_p.P699A|AFF2_uc004fcs.3_Missense_Mutation_p.P701A|AFF2_uc011mxc.2_Missense_Mutation_p.P375A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	734					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTCCTGCCTCCGTGCAT	0.468000														48			46		0	0	0.000781405	0	0
EMR2	30817	broad.mit.edu	37	19	14862260	14862260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:14862260C>T	uc002mzp.1	-	15	2468	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	EMR2_uc010dzs.1_Missense_Mutation_p.G130E|EMR2_uc010xnw.1_Missense_Mutation_p.G613E|EMR2_uc002mzo.1_Missense_Mutation_p.G660E|EMR2_uc002mzq.1_Missense_Mutation_p.G611E|EMR2_uc002mzr.1_Missense_Mutation_p.G622E|EMR2_uc002mzs.1_Missense_Mutation_p.G529E|EMR2_uc002mzt.1_Missense_Mutation_p.G567E|EMR2_uc002mzu.1_Missense_Mutation_p.G578E|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	671					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGAAGGTGTTCCATAAAGGTG	0.483000														89			23		0	0	0.000586117	0	0
LRP2	4036	broad.mit.edu	37	2	170062083	170062083	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170062083A>C	uc002ues.3	-	40	7834	c.7621T>G	c.(7621-7623)Ttc>Gtc	p.F2541V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2541					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)	GGTACGCGGAAGTTTCCTCCC	0.488000														48			16		0	0	0.000566183	0	0
LTBP2	4053	broad.mit.edu	37	14	74978063	74978063	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74978063G>A	uc001xqa.3	-	18	3300	c.2913C>T	c.(2911-2913)atC>atT	p.I971I		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	971	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCATTCGTTGATATCTGCAA	0.572000														72			25		0	0	0.001512	0	0
ZNF425	155054	broad.mit.edu	37	7	148801022	148801022	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:148801022G>A	uc003wfj.3	-	3	2074	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	647					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGTTGAGTGAAACTTTTGC	0.537000														143			40		0	0	0.0025221	0	0
CALU	813	broad.mit.edu	37	7	128407644	128407644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:128407644C>T	uc022ald.1	+	6	1745	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CALU_uc022alg.1_Missense_Mutation_p.P186S|CALU_uc022alh.1_Missense_Mutation_p.P186S|CALU_uc022ali.1_Missense_Mutation_p.P108S|CALU_uc003vns.3_Missense_Mutation_p.P260S|CALU_uc003vnr.3_Missense_Mutation_p.P268S|CALU_uc003vnq.3_Missense_Mutation_p.P260S|CALU_uc022ale.1_Intron|CALU_uc022alf.1_Missense_Mutation_p.P109S	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	260	EF-hand 6.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						CTGGATCCTTCCCTCAGACTA	0.502000														15			47		0	0	0.000781405	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510080	77510080	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:77510080G>A	uc001dhi.3	+	2	628	c.453G>A	c.(451-453)agG>agA	p.R151R	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	151					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCATCCAGAGGATCCTCCGCA	0.642000														34			32		0	0	0.001512	0	0
MST1P2	11209	broad.mit.edu	37	1	16974919	16974919	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16974919C>T	uc010och.2	+	6		c.1379C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGCTCCCGGCCCCGCCAGGGC	0.677000														78			5		0	0	0.00198382	0	0
GUCA1B	2979	broad.mit.edu	37	6	42156425	42156425	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														15			11		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9062912	9062912	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9062912A>C	uc002mkp.3	-	2	24738	c.24534T>G	c.(24532-24534)acT>acG	p.T8178T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8180	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						TTTCTGTGGAAGTCTCTGGTG	0.507000														40			11		0	0	0.00244969	0	0
XIRP2	129446	broad.mit.edu	37	2	168074748	168074748	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168074748A>T	uc002udx.3	+	4	885	c.796A>T	c.(796-798)Att>Ttt	p.I266F	XIRP2_uc010fpn.3_Missense_Mutation_p.I299F|XIRP2_uc010fpo.3_Missense_Mutation_p.I266F|XIRP2_uc002udy.3_Missense_Mutation_p.I91F|XIRP2_uc010fpq.3_Missense_Mutation_p.I44F|XIRP2_uc010fpr.3_Missense_Mutation_p.I44F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	91					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						TGAGGACGAAATTACTTCTTC	0.398000														40			27		0	0	0.00127121	0	0
LRP2	4036	broad.mit.edu	37	2	170072834	170072834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170072834C>T	uc002ues.3	-	34	5968	c.5755G>A	c.(5755-5757)Gaa>Aaa	p.E1919K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1919					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)	TCCAGGTGTTCGAGGTTCCCA	0.502000														38			8		0	0	0.000442599	0	0
STRBP	55342	broad.mit.edu	37	9	125901857	125901857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125901857G>A	uc004bns.3	-	13	1890	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	STRBP_uc004bnt.3_Missense_Mutation_p.S301L|STRBP_uc004bnu.3_Missense_Mutation_p.S469L|STRBP_uc004bnv.3_Missense_Mutation_p.S483L	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	483					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATTATTGCTTGAGTTTGAAGA	0.323000														32			27		0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179600731	179600731	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179600731G>A	uc021vsy.1	-	46	10935	c.10710C>T	c.(10708-10710)ttC>ttT	p.F3570F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F231F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4497	Ig-like 21.		E -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation).				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)			CTGTGCAGATGAACTTGGCTG	0.458000														50			23		0	0	0.000586117	0	0
WDR12	55759	broad.mit.edu	37	2	203762106	203762107	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:203762106_203762107CG>AT	uc002uzl.3	-	4	1120_1121	c.370_371CG>AT	c.(370-372)cgg>ATg	p.R124M		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	124	Sufficient for nucleolar localization.				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)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GGACCAGATCCGAGAAGTCTTA	0.381000														684			13		0	0	6.4e-05	0	0
RIN3	79890	broad.mit.edu	37	14	93154369	93154369	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:93154369G>A	uc001yap.3	+	9	2882	c.2730G>A	c.(2728-2730)gcG>gcA	p.A910A	RIN3_uc010auk.3_Silent_p.A572A|RIN3_uc001yaq.3_Silent_p.A835A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	910	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGCAGTGCGCGGAGAAGTTCG	0.721000														10			5		0	0	0.000602214	0	0
GABRB2	2561	broad.mit.edu	37	5	160721205	160721205	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:160721205C>T	uc003lys.1	-	10	1640	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	GABRB2_uc011deh.1_Silent_p.L275L|GABRB2_uc003lyr.1_Silent_p.L436L|GABRB2_uc003lyt.1_Silent_p.L436L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	474					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGTGATTTTCAGTTGGGAGG	0.502000														21			5		0	0	0.000602214	0	0
BAAT	570	broad.mit.edu	37	9	104125001	104125001	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104125001G>A	uc010mtd.3	-	3	1075	c.966C>T	c.(964-966)ttC>ttT	p.F322F	BAAT_uc004bbd.4_Silent_p.F322F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	322					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTACAATGAAGAGGAATT	0.468000														80			21		0	0	0.00278032	0	0
PCSK5	5125	broad.mit.edu	37	9	78973651	78973651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78973651G>A	uc004akc.2	+	36	5934	c.5396G>A	c.(5395-5397)aGc>aAc	p.S1799N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	616					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						TATAGAGAGAGCACCAGCTTT	0.512000														112			78		0	0	0.000781405	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20858930	20858930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:20858930C>T	uc010sii.2	+	4	674	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	SLCO1C1_uc010sij.2_Missense_Mutation_p.H107Y|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Missense_Mutation_p.H107Y|SLCO1C1_uc010sik.2_5'UTR	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	107					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGCCAAACTTCACAGGCCAAA	0.373000														106			57		0	0	0.000781405	0	0
ZNF12	7559	broad.mit.edu	37	7	6731743	6731743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:6731743G>A	uc003sqt.1	-	4	1384	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZNF12_uc011jxa.1_Missense_Mutation_p.S115F|ZNF12_uc003sqs.1_Missense_Mutation_p.S239F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	277					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTACAGAAGGATTTCCCACA	0.408000														20			71		0	0	0.000781405	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386754	20386754	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:20386754G>A	uc010gsf.1	-	11		c.1758C>T			PI4KAP1_uc010gsg.2_Intron|PI4KAP1_uc011ahn.1_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		TTGAGGAGTGGAAAAGGACTC	0.562000														34			8		0	0	0.000274275	0	0
CXorf61	203413	broad.mit.edu	37	X	115593146	115593146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115593146G>A	uc004eqj.1	-	1	224	c.104C>T	c.(103-105)tCa>tTa	p.S35L		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	35						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AAGAGCAGTTGAATTTGATGA	0.373000														25			18		0	0	0.00278032	0	0
FOXO3	2309	broad.mit.edu	37	6	108984964	108984964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:108984964C>T	uc003psk.2	+	2	1244	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	FOXO3_uc003psm.2_Missense_Mutation_p.R310C|FOXO3_uc011ean.1_Missense_Mutation_p.R90C|FOXO3_uc010kdj.1_Missense_Mutation_p.R90C	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	310				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GACGGACTTCCGTTCACGCAC	0.607000														8			7		0	0	0.00198382	0	0
TTC13	79573	broad.mit.edu	37	1	231060654	231060654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:231060654G>A	uc001huf.4	-	13	1696	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	TTC13_uc001hug.4_Nonsense_Mutation_p.R499*|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Nonsense_Mutation_p.R442*	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	552							binding	p.R552*(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCATTCATTCGAACTTTCGAG	0.438000														151			44		0	0	0.000781405	0	0
CERKL	375298	broad.mit.edu	37	2	182412558	182412558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:182412558G>A	uc002unx.3	-	9	1329	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.P384S|CERKL_uc010zfm.2_Missense_Mutation_p.P366S|CERKL_uc002unz.3_Missense_Mutation_p.P132S|CERKL_uc002uoa.3_Missense_Mutation_p.P315S|CERKL_uc002uob.3_Missense_Mutation_p.P132S|CERKL_uc002uoc.3_Missense_Mutation_p.P271S|CERKL_uc021vth.1_Missense_Mutation_p.P179S|CERKL_uc021vti.1_Missense_Mutation_p.P132S|CERKL_uc021vtj.1_Missense_Mutation_p.P87S|CERKL_uc021vtk.1_Missense_Mutation_p.P132S|CERKL_uc021vtl.1_Missense_Mutation_p.P87S|CERKL_uc021vtm.1_Missense_Mutation_p.P179S|CERKL_uc002uod.2_Missense_Mutation_p.P179S|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	410					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCAGATTTGGGAGATCCCTGT	0.398000														131			35		0	0	0.00128727	0	0
DISP1	84976	broad.mit.edu	37	1	223179274	223179275	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:223179274_223179275CG>AT	uc001hnu.2	+	9	4861_4862	c.4535_4536CG>AT	c.(4534-4536)tcg>tAT	p.S1512Y		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1512					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)		TTAACACACTCGGAACTTTCTG	0.361000														701			14		0	0	6.4e-05	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439873	150439873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150439873G>A	uc022apw.1	+	5	1398	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G216S	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGAGCGAGAGGGCTCCTTCCA	0.592000														59			20		0	0	0.00152264	0	0
KCNN3	3782	broad.mit.edu	37	1	154705510	154705510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154705510C>T	uc021pah.1	-	4	1918	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	KCNN3_uc001ffo.3_Missense_Mutation_p.G215E|KCNN3_uc001ffp.3_Missense_Mutation_p.G520E	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.	525						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GACACCTTTCCCACAGTATGT	0.507000														64			23		0	0	0.00229938	0	0
ASB10	136371	broad.mit.edu	37	7	150883911	150883911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150883911G>A	uc003wjm.1	-	0	568	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	ASB10_uc003wjl.1_Missense_Mutation_p.R103C|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	103					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGAGCACGGATGTTGAAG	0.632000														16			8		0	0	0.000274275	0	0
OR4N5	390437	broad.mit.edu	37	14	20612589	20612589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20612589G>A	uc010tla.2	+	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTCTGAAGGAAAGAGCAAG	0.493000														21			42		0	0	0.00148497	0	0
ARPP21	10777	broad.mit.edu	37	3	35729321	35729321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:35729321G>A	uc011axy.2	+	4	564	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ARPP21_uc003cga.3_Missense_Mutation_p.D118N|ARPP21_uc003cgb.3_Missense_Mutation_p.D118N|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	118						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						AAAAGAAAAGGATAAAAACAA	0.353000														12			6		0	0	0.00198382	0	0
CACNA1E	777	broad.mit.edu	37	1	181767489	181767489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181767489G>A	uc009wxt.3	+	47	6656	c.6461G>A	c.(6460-6462)aGa>aAa	p.R2154K	CACNA1E_uc001gow.3_Missense_Mutation_p.R2111K|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2092K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2154					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						ACCCCAAGAAGAAGTCGTCGG	0.592000														108			18		0	0	0.00121646	0	0
LAMC3	10319	broad.mit.edu	37	9	133961098	133961098	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133961098G>A	uc004caa.1	+	24	4316	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	LAMC3_uc010mze.1_Silent_p.K94K	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1406	Domain II and I.				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)		TGTTGGCCAAGGACAGTGCCA	0.637000														34			6		0	0	0.00116845	0	0
FAT4	79633	broad.mit.edu	37	4	126373056	126373056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:126373056C>T	uc003ifj.4	+	8	10885	c.10885C>T	c.(10885-10887)Ccc>Tcc	p.P3629S	FAT4_uc011cgp.2_Missense_Mutation_p.P1927S|FAT4_uc003ifi.1_Missense_Mutation_p.P1107S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3629					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						TAACTTGTTTCCCGGTGGGAT	0.443000														16			25		0	0	0.000878237	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628299	173628299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:173628299C>T	uc001gja.1	-	1	320	c.259G>A	c.(259-261)Gct>Act	p.A87T	ANKRD45_uc001gjb.4_Missense_Mutation_p.A87T	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	103										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTTTGCCCAGCCATGCAAGCT	0.403000														134			32		0	0	0.0024448	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785496	37785496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:37785496C>T	uc002yvj.3	+	11	1514	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	459					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTCAAAAGCCCCTTGCCGGGG	0.637000														28			10		0	0	0.000442599	0	0
TACR2	6865	broad.mit.edu	37	10	71166976	71166976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:71166976G>A	uc001jpn.2	-	3	1397	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	TACR2_uc001jpm.2_Missense_Mutation_p.L56F	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	268					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ATGAAGTAGAGGTGGTAGGGC	0.537000														8			11		0	0	0.000978159	0	0
GCDH	2639	broad.mit.edu	37	19	13006835	13006835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:13006835C>T	uc002mvq.3	+	6	612	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	GCDH_uc010xms.2_Missense_Mutation_p.L146F|GCDH_uc002mvp.3_Missense_Mutation_p.L179F|GCDH_uc010xmt.2_Silent_p.G24G|GCDH_uc010xmu.2_Missense_Mutation_p.L135F	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	179			L -> R (in GA1).		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						CTGCTTCGGGCTCACAGAGCC	0.562000														94			31		0	0	0.001512	0	0
MID2	11043	broad.mit.edu	37	X	107169963	107169963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:107169963C>T	uc004enl.3	+	9	2441	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	MID2_uc004enk.3_Missense_Mutation_p.S593F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	623	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAGAATGCCTCCTCATGGGTC	0.468000														15			17		0	0	0.000422831	0	0
ALS2	57679	broad.mit.edu	37	2	202568857	202568857	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:202568857G>A	uc002uyo.3	-	32	5279	c.4923C>T	c.(4921-4923)ttC>ttT	p.F1641F	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.	1641	VPS9.				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						TCAAGGTGGTGAACATTATAC	0.368000														42			13		0	0	0.00185496	0	0
NBAS	51594	broad.mit.edu	37	2	15614280	15614280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:15614280G>A	uc002rcc.1	-	14	1536	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	504										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCGTGGTGGTGCAAATCGC	0.453000														59			52		0	0	0.000781405	0	0
HNF4A	3172	broad.mit.edu	37	20	43058294	43058294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43058294G>A	uc002xma.3	+	9	1503	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	HNF4A_uc002xlu.3_Missense_Mutation_p.E440K|HNF4A_uc002xlv.3_Missense_Mutation_p.E450K|HNF4A_uc010ggq.3_Missense_Mutation_p.E465K|HNF4A_uc002xlz.3_Missense_Mutation_p.E462K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	472					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)			CACCAAGCAGGAAGTTATCTA	0.632000														213			77		0	0	0.000781405	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948498	119948498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:119948498C>T	uc010inb.3	+	2	1170	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SYNPO2_uc010ina.3_Missense_Mutation_p.S325F|SYNPO2_uc003icm.4_Missense_Mutation_p.S325F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S253F	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	325						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						TCTCTGGTATCCTTTGCCGTC	0.557000														29			11		0	0	0.00136819	0	0
WDR41	55255	broad.mit.edu	37	5	76736641	76736641	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:76736641T>C	uc003kff.1	-	8	1166	c.879A>G	c.(877-879)gaA>gaG	p.E293E	WDR41_uc011csy.1_Silent_p.E235E|WDR41_uc011csz.1_Silent_p.E238E|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	293										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTTTACCTCTTCATCACATG	0.323000														17			27		0	0	0.00106085	0	0
ADAM9	8754	broad.mit.edu	37	8	38913098	38913098	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:38913098C>T	uc003xmr.3	+	13	1476	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	466	Disintegrin.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTCACTAGTTCCTTCCAGGAG	0.358000														21			14		0	0	0.000308642	0	0
XIRP1	165904	broad.mit.edu	37	3	39227007	39227007	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39227007C>T	uc003cjk.2	-	1	4159	c.3930G>A	c.(3928-3930)aaG>aaA	p.K1310K	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_5'UTR|XIRP1_uc021wvz.1_Silent_p.K1310K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1310	Pro-rich.						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)		GTTTTGGGGTCTTTGTCTGTG	0.617000														83			28		0	0	0.00106085	0	0
OTOGL	283310	broad.mit.edu	37	12	80750274	80750274	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80750274T>C	uc001szd.3	+	46	5864	c.5858T>C	c.(5857-5859)cTt>cCt	p.L1953P	OTOGL_uc021rba.1_5'UTR|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAGTCCTCTTTCTTGCTGT	0.333000														53			20		0	0	0.00121646	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053903	95053903	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:95053903C>T	uc001ydm.2	+	2	414	c.204C>T	c.(202-204)tcC>tcT	p.S68S	SERPINA5_uc010ave.2_Silent_p.S68S|SERPINA5_uc001ydn.1_Silent_p.S68S	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	68					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.S68F(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCTTCTTCTCCCCTGTGAGCA	0.607000														43			9		0	0	0.000274275	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501824	140501824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140501824G>A	uc003lip.1	+	0	244	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	82	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACTGGAGATTTGCTTCT	0.547000														39			18		0	0	0.000958276	0	0
ZNF304	57343	broad.mit.edu	37	19	57868827	57868827	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57868827T>C	uc010etw.3	+	3	2119	c.1731T>C	c.(1729-1731)ccT>ccC	p.P577P	ZNF304_uc010ygw.2_Silent_p.P530P|ZNF304_uc010etx.3_Silent_p.P488P	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q576K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGCAAAGCCTTATGAGTGCA	0.453000														16			11		0	0	0.00185496	0	0
FADS3	3995	broad.mit.edu	37	11	61645658	61645658	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:61645658G>A	uc001nsm.3	-	5	930	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	259					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGGTTGTAGGGTAGGTATC	0.612000														28			24		0	0	0.00127121	0	0
PAK7	57144	broad.mit.edu	37	20	9538276	9538276	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9538276G>A	uc002wnl.2	-	7	2267	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	PAK7_uc002wnk.2_Silent_p.I574I|PAK7_uc002wnj.2_Silent_p.I574I|PAK7_uc010gby.1_Silent_p.I574I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	574	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGTCAGGAGGATGGAGTCAC	0.453000														14			15		0	0	0.000308642	0	0
FAT3	120114	broad.mit.edu	37	11	92533807	92533807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:92533807G>A	uc001pdj.4	+	8	7645	c.7628G>A	c.(7627-7629)cGa>cAa	p.R2543Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2543	Cadherin 23.				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)				GCCAAGGATCGATTCCTCATA	0.483000										TCGA Ovarian(4;0.039)				168			123		0	0	0.000781405	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322023	105322023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105322023G>A	uc001tla.3	-	0	450	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	95						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTATTGGCATGAAAAGACTGC	0.413000														36			17		0	0	0.000958276	0	0
OR6T1	219874	broad.mit.edu	37	11	123813676	123813676	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:123813676G>A	uc010sab.2	-	0	870	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	290					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)		TGCGGAGAGTGAAGATGAATG	0.512000														76			52		0	0	0.000781405	0	0
LTBP2	4053	broad.mit.edu	37	14	74967682	74967682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74967682C>T	uc001xqa.3	-	35	5758	c.5371G>A	c.(5371-5373)Ggt>Agt	p.G1791S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1791	EGF-like 20; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCGCAGTAACCATGGACACAG	0.587000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			9		0	0	0.000673444	0	0
MDC1	9656	broad.mit.edu	37	6	30680194	30680194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:30680194G>A	uc003nrg.4	-	4	1965	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	MDC1_uc003nrf.4_Missense_Mutation_p.H163Y|MDC1_uc011dmp.1_Missense_Mutation_p.H381Y|MDC1_uc003nrh.1_Missense_Mutation_p.H381Y|MDC1_uc003nri.2_Missense_Mutation_p.H509Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	509	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCTCCAGGTGGATCCCAGGT	0.488000								Other conserved DNA damage response genes						76			34		0	0	0.000692331	0	0
DNAH5	1767	broad.mit.edu	37	5	13928280	13928280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13928280C>T	uc003jfd.2	-	2	242	c.200G>A	c.(199-201)aGa>aAa	p.R67K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	67	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R67I(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)					TTGATCAATTCTTTCAATCTG	0.318000									Kartagener syndrome					42			12		0	0	0.00185496	0	0
DSP	1832	broad.mit.edu	37	6	7584062	7584062	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:7584062G>A	uc003mxp.1	+	23	6846	c.6567G>A	c.(6565-6567)cgG>cgA	p.R2189R	DSP_uc003mxq.1_Silent_p.R1590R|DSP_uc021yle.1_Silent_p.R1746R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2189	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGGAACGGTGCAGAATCG	0.468000														84			23		0	0	0.00278032	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747342	62747342	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62747342C>T	uc001nwk.3	-	6	1449	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	SLC22A6_uc001nwl.3_Silent_p.V372V|SLC22A6_uc001nwj.3_Silent_p.V372V|SLC22A6_uc001nwm.3_Silent_p.V372V	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	372					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACCAAAGATCACCTGGATTA	0.567000														22			23		0	0	0.000586117	0	0
GDF3	9573	broad.mit.edu	37	12	7842921	7842921	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7842921A>G	uc001qte.3	-	1	684	c.648T>C	c.(646-648)ttT>ttC	p.F216F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	216					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTCAGGCTGAAAATTCACCC	0.493000														47			16		0	0	0.000422831	0	0
CNGB1	1258	broad.mit.edu	37	16	57965772	57965772	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:57965772C>T	uc002emt.2	-	16	1448	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	CNGB1_uc010cdh.2_Silent_p.T455T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	461					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTGCTGTTTCGTGGCAGGCA	0.547000														29			20		0	0	0.00278032	0	0
PAPPA	5069	broad.mit.edu	37	9	118949875	118949875	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:118949875C>T	uc004bjn.3	+	1	1239	c.858C>T	c.(856-858)ctC>ctT	p.L286L	PAPPA_uc011lxp.1_Silent_p.L79L|PAPPA_uc011lxq.2_Silent_p.L79L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	286	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						AGCTCCTCCTCCAGGAGAACT	0.572000														71			14		0	0	0.00185496	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870663	51870663	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51870663G>A	uc002xwo.3	+	1	1553	c.666G>A	c.(664-666)gcG>gcA	p.A222A	TSHZ2_uc021wex.1_Silent_p.A219A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222V(1)|p.A222T(1)		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)			AGTGCAGCGCGGCCTATGACA	0.557000														46			13		0	0	0.00185496	0	0
GLUL	2752	broad.mit.edu	37	1	182354924	182354925	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182354924_182354925CC>AA	uc001gpa.2	-	4	816_817	c.573_574GG>TT	c.(571-576)gcgggg>gcTTgg	p.G192W	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.G192W|GLUL_uc001gpc.2_Missense_Mutation_p.G192W|GLUL_uc001gpd.2_Missense_Mutation_p.G192W	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	192					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	p.A191A(2)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GCATTAGTCCCCGCAATCTTGA	0.520000														384			10		0	0	6.4e-05	0	0
PAPLN	89932	broad.mit.edu	37	14	73731413	73731413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:73731413C>T	uc010ttx.2	+	20	3267	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	PAPLN_uc001xnw.4_Missense_Mutation_p.S1008L|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.S1019L|PAPLN_uc010arm.3_Missense_Mutation_p.S234L|PAPLN_uc010arn.3_Missense_Mutation_p.S235L	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1035	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATCCCCTCTTCACACCCACAG	0.657000														86			29		0	0	0.0024448	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634624	70634624	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:70634624C>T	uc001xly.3	-	1	1270	c.516G>A	c.(514-516)ggG>ggA	p.G172G	SLC8A3_uc001xlw.3_Silent_p.G172G|SLC8A3_uc001xlx.3_Silent_p.G172G|SLC8A3_uc001xlz.3_Silent_p.G172G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	172					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGCTGCACTCCCTACAATGG	0.493000														51			9		0	0	0.000673444	0	0
AMZ1	155185	broad.mit.edu	37	7	2740289	2740289	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:2740289G>A	uc003smr.1	+	1	565	c.204G>A	c.(202-204)ctG>ctA	p.L68L	AMZ1_uc003sms.1_Silent_p.L68L|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	68							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ACTGGCTCCTGAGCCGACCCG	0.667000														95			45		0	0	0.00285205	0	0
TNNI1	7135	broad.mit.edu	37	1	201384368	201384368	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201384368G>A	uc021phe.1	-	2	30	c.30C>T	c.(28-30)atC>atT	p.I10I	TNNI1_uc021phd.1_5'UTR|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_5'UTR	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	10	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GGGAGGCAGTGATCTTGGGTT	0.587000														46			9		0	0	0.000442599	0	0
ATXN7	6314	broad.mit.edu	37	3	63973943	63973944	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:63973943_63973944CC>TT	uc003dlv.3	+	8	1857_1858	c.1304_1305CC>TT	c.(1303-1305)tcc>tTT	p.S435F	ATXN7_uc003dlw.4_Missense_Mutation_p.S435F|ATXN7_uc021wzy.1_Missense_Mutation_p.S435F|ATXN7_uc011bfn.2_Missense_Mutation_p.S290F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	435	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.S435S(3)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTGATTCCTTCCGAATCAAAGC	0.564000														110			50		0	0	6.4e-05	0	0
EPN1	29924	broad.mit.edu	37	19	56203253	56203253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56203253C>T	uc002qlw.3	+	6	1238	c.896C>T	c.(895-897)cCc>cTc	p.P299L	EPN1_uc002qlv.3_Missense_Mutation_p.P274L|EPN1_uc010etd.3_Missense_Mutation_p.P299L|EPN1_uc002qlx.3_Missense_Mutation_p.P385L	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	299	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TGGGGCGGCCCCCCTGTCCCT	0.756000														24			6		0	0	0.00116845	0	0
ALK	238	broad.mit.edu	37	2	29519850	29519850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:29519850C>T	uc002rmy.3	-	8	2673	c.1721G>A	c.(1720-1722)gGg>gAg	p.G574E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	574	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)	TTGCTCCTTCCCGGTTTTGTT	0.567000			"""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					34			16		0	0	0.000422831	0	0
SEZ6	124925	broad.mit.edu	37	17	27308582	27308582	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:27308582G>A	uc002hdp.2	-	1	725	c.531C>T	c.(529-531)ccC>ccT	p.P177P	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.P177P|SEZ6_uc002hdq.1_Silent_p.P52P|SEZ6_uc010crz.1_Silent_p.P177P	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	177	Pro-rich.					integral to membrane|plasma membrane		p.P176T(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)			AGGCTCTGCTGGGGGGTGTAG	0.642000														16			5		0	0	0.000602214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525557	176525557	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:176525557C>A	uc001gkz.3	+	1	1263	c.99C>A	c.(97-99)tcC>tcA	p.S33S	PAPPA2_uc001gky.1_Silent_p.S33S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	33					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						GCAAGAAATCCTTGGTTGAGA	0.527000														79			52		2.29192e-23	8.39736e-23	0.000781405	1	0
ZADH2	284273	broad.mit.edu	37	18	72913569	72913569	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:72913569A>C	uc002llx.3	-	1	1204	c.936T>G	c.(934-936)taT>taG	p.Y312*	ZADH2_uc010dqv.3_Nonsense_Mutation_p.Y189*	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	312						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGGCTGCTTGATACTTAGAAA	0.527000														55			13		0	0	0.00185496	0	0
TTLL4	9654	broad.mit.edu	37	2	219602691	219602691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219602691G>A	uc002viy.3	+	2	662	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Missense_Mutation_p.G98S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	98					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGTCATTGCAGGCCACAGCAG	0.567000														89			33		0	0	0.0024448	0	0
FBXO41	150726	broad.mit.edu	37	2	73491469	73491469	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:73491469G>A	uc021vjh.1	-	4	1833	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	581						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGGGCCACGAAGCGCCAGT	0.632000														59			43		0	0	0.00285205	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386958	48386958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48386958C>T	uc002phr.2	-	1	361	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	74					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGGGTGATCGCTCCCAGAT	0.517000														50			11		0	0	0.000978159	0	0
SVEP1	79987	broad.mit.edu	37	9	113231282	113231282	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:113231282T>G	uc010mtz.3	-	16	3435	c.3098A>C	c.(3097-3099)aAg>aCg	p.K1033T	SVEP1_uc010mua.1_Missense_Mutation_p.K1033T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1033					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						GGGGCAAAGCTTGCACTCAAG	0.443000														66			13		0	0	0.000308642	0	0
USP6	9098	broad.mit.edu	37	17	5066201	5066201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:5066201G>A	uc002gau.1	+	32	5168	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	USP6_uc002gav.1_Missense_Mutation_p.D980N|USP6_uc010ckz.1_Missense_Mutation_p.D663N	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	980					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGTAAAATTGATTGTGGGGA	0.393000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									7			115		0	0	0.000781405	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473767	145473767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145473767G>A	uc021ouy.1	+	0	439	c.439G>A	c.(439-441)Gat>Aat	p.D147N	ANKRD34A_uc001enq.1_Missense_Mutation_p.D147N	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	147										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCACCACCGATACCTCGCC	0.647000														47			18		0	0	0.000958276	0	0
PSMD1	5707	broad.mit.edu	37	2	231931703	231931703	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231931703T>A	uc002vrn.2	+	4	550	c.388T>A	c.(388-390)Ttg>Atg	p.L130M	PSMD1_uc002vrm.2_Missense_Mutation_p.L130M|PSMD1_uc010fxu.2_5'UTR	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	130					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)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGACCAGAGATTGGAAGGCAT	0.393000														22			11		0	0	0.00136819	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471516	61471516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61471516C>T	uc002ljl.3	+	7	886	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SERPINB7_uc002ljm.3_Missense_Mutation_p.P264S|SERPINB7_uc010xet.2_Missense_Mutation_p.P247S|SERPINB7_uc010dqg.3_Missense_Mutation_p.P264S	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	264					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)				ATGGACCAATCCAAGGCGAAT	0.328000														19			16		0	0	0.000422831	0	0
COL19A1	1310	broad.mit.edu	37	6	70890205	70890205	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:70890205G>A	uc003pfc.1	+	43	2785	c.2668_splice	c.e43-1	p.G890_splice		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	890	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						CCTTGCCAGGGAAAACCTGGT	0.488000														23			19		0	0	0.00121646	0	0
LOC401010	401010	broad.mit.edu	37	2	132201225	132201225	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:132201225G>A	uc002tst.2	-	0	1243	c.777C>T	c.(775-777)ttC>ttT	p.F259F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GGCACCACAGGAAGAGGCAGT	0.567000														23			5		0	0	0.000602214	0	0
GLP2R	9340	broad.mit.edu	37	17	9757905	9757905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9757905C>T	uc002gmd.1	+	4	598	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	200					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)	TCTCACCCTCCTCTTGTTTCT	0.498000														49			50		0	0	0.000781405	0	0
KLF7	8609	broad.mit.edu	37	2	207988671	207988671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207988671G>A	uc002vbz.1	-	1	882	c.560C>T	c.(559-561)gCc>gTc	p.A187V	KLF7_uc002vca.1_Intron|KLF7_uc010zix.1_Missense_Mutation_p.A159V	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	187					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGCCGTCACGGCTGCTGCAGC	0.612000														78			20		0	0	0.00152264	0	0
VPS13B	157680	broad.mit.edu	37	8	100887729	100887729	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:100887729C>A	uc003yiv.3	+	61	12015	c.11904C>A	c.(11902-11904)gcC>gcA	p.A3968A	VPS13B_uc003yiw.3_Silent_p.A3943A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3968					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)			GTCACCTGGCCCCCAGCTGTT	0.483000														29			48		2.43468e-25	8.92687e-25	0.000781405	1	0
MYLK3	91807	broad.mit.edu	37	16	46763512	46763512	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:46763512C>T	uc002eei.4	-	5	1772	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	MYLK3_uc010vge.2_Silent_p.K211K|MYLK3_uc002eej.1_Silent_p.K211K	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	552	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACCCGGTCCTTGGCGCTCT	0.612000														42			16		0	0	0.000958276	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474550	145474550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145474550G>A	uc021ouy.1	+	0	1222	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.G408S	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	408	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCGGAGGGGCTCGGGGAC	0.682000														9			4		0	0	0.000602214	0	0
C1orf173	127254	broad.mit.edu	37	1	75036972	75036972	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75036972G>A	uc001dgg.3	-	13	4641	c.4422C>T	c.(4420-4422)ttC>ttT	p.F1474F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1474	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						ATCCTAATCGGAATTTTTCAG	0.567000														80			66		0	0	0.000781405	0	0
MTMR11	10903	broad.mit.edu	37	1	149905813	149905813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149905813G>A	uc001etl.4	-	7	957	c.706C>T	c.(706-708)Cct>Tct	p.P236S	MTMR11_uc001etm.2_Missense_Mutation_p.P164S|MTMR11_uc010pbm.1_Missense_Mutation_p.P208S|MTMR11_uc010pbn.1_Missense_Mutation_p.P78S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	236	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)			ATTCGGTTAGGGACCCAGAAG	0.478000														79			55		0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	186014931	186014931	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186014931A>G	uc001grq.1	+	40	6645	c.6416A>G	c.(6415-6417)aAa>aGa	p.K2139R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2139	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTTGGTTAAAAGACGGCCAC	0.393000														28			34		0	0	0.0024448	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826539	43826539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43826539C>T	uc010skx.2	-	19	2796	c.2796G>A	c.(2794-2796)atG>atA	p.M932I	ADAMTS20_uc001rno.1_Missense_Mutation_p.M86I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.M86I	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	932	TSP type-1 3.					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)		TGGAATACTTCATGCAATGGA	0.408000														80			35		0	0	0.00111076	0	0
IL9R	3581	broad.mit.edu	37	X	155233513	155233513	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:155233513G>A	uc004fnv.1	+	3	605	c.426G>A	c.(424-426)cgG>cgA	p.R142R	IL9R_uc010nvn.2_Silent_p.R121R|IL9R_uc004fnu.1_Missense_Mutation_p.G187E	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	142					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCTGCCCCGGAGACACGGTG	0.617000														19			24		0	0	0.001512	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378866	113378867	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113378866_113378867GA>AT	uc003eam.3	-	6	2073_2074	c.1662_1663TC>AT	c.(1660-1665)attctt>atATtt	p.L555F	KIAA2018_uc003eal.3_Missense_Mutation_p.L499F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	555					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I554F(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTGGCTGAAGAATTATAACAT	0.431000														52			25		0	0	6.4e-05	0	0
GCG	2641	broad.mit.edu	37	2	163000608	163000608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163000608C>T	uc002ucc.3	-	4	721	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	155					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GAATGGTGTTCATCTCATCAG	0.398000														41			14		0	0	0.000566183	0	0
MTRR	4552	broad.mit.edu	37	5	7897231	7897231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:7897231C>T	uc003jed.3	+	13	1934	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	MTRR_uc003jee.4_Missense_Mutation_p.S608F|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	635					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAAAGGTTTCCTTCTCAAGA	0.438000														18			28		0	0	0.00106085	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337081	151337081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:151337081G>A	uc010pcy.2	-	11	1613	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	SELENBP1_uc001exx.3_Missense_Mutation_p.P453S|SELENBP1_uc010pcz.2_Missense_Mutation_p.P391S|SELENBP1_uc001eya.3_Missense_Mutation_p.P389S	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	453					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GCAAGGGCTGGGCCAAGGGGC	0.567000														56			68		0	0	0.000781405	0	0
ZBTB43	23099	broad.mit.edu	37	9	129594916	129594917	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:129594916_129594917TT>AA	uc022bnm.1	+	0	128_129	c.128_129TT>AA	c.(127-129)att>aAA	p.I43K	ZBTB43_uc004bql.3_Missense_Mutation_p.I43K|ZBTB43_uc010mxf.3_Missense_Mutation_p.I43K	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGGCCACATTTTCCGGGCAC	0.465000														53			13		0	0	6.4e-05	0	0
TAF1L	138474	broad.mit.edu	37	9	32633142	32633142	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:32633142C>T	uc003zrg.1	-	0	2526	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	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.	812					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)		TGGAGTTAGGCCCAGGAACTT	0.438000														27			39		0	0	0.00195071	0	0
ITGB5	3693	broad.mit.edu	37	3	124515542	124515542	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:124515542C>T	uc003eho.3	-	9	1683	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	462					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCAGCCGCACGTGCAGTTGT	0.672000														18			12		0	0	0.00136819	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688069	62688069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:62688069C>T	uc003peg.2	-	3	632	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	129	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGAAGCTCATCACTCAAGTGG	0.373000														14			9		0	0	0.000442599	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5227116	5227116	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:5227116G>A	uc009xhz.2	-	0		c.35C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCCCAGTAGGAGACAAGGCT	0.493000														3			7		0	0	0.00198382	0	0
C17orf56	146705	broad.mit.edu	37	17	79202985	79202985	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:79202985T>G	uc002jzu.2	-	11	1379	c.1321A>C	c.(1321-1323)Agc>Cgc	p.S441R	C17orf56_uc002jzr.2_Missense_Mutation_p.S111R|C17orf56_uc002jzs.2_Missense_Mutation_p.S357R|C17orf56_uc002jzt.2_Missense_Mutation_p.S357R|C17orf56_uc002jzv.2_Missense_Mutation_p.S289R|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	441						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)			CACCGCCTGCTTTCTGCCAGT	0.677000														24			5		0	0	0.00198382	0	0
CDH11	1009	broad.mit.edu	37	16	64981796	64981796	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:64981796G>A	uc002eoi.3	-	12	2535	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Nonsense_Mutation_p.Q575*	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	701					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)		GGCATGTACTGATACTCAGGT	0.527000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				72			31		0	0	0.0024448	0	0
MKRN2	23609	broad.mit.edu	37	3	12623672	12623672	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:12623672C>A	uc003bxd.3	+	7	1227	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	MKRN2_uc011aus.2_Missense_Mutation_p.P348T	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	391						intracellular	ligase activity|nucleic acid binding|zinc ion binding	p.P391Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCATGTCCCCAACAATGA	0.502000														239			8		0.000274275	0.000995949	0.000274275	1	0
TEC	7006	broad.mit.edu	37	4	48147207	48147207	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:48147207G>A	uc003gxz.3	-	13	1450	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	453	Protein kinase.				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						TCTGTCGGAGGAAATTCAGAA	0.473000														64			29		0	0	0.00127121	0	0
RAB27B	5874	broad.mit.edu	37	18	52556538	52556538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52556538G>A	uc002lfr.3	+	5	794	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.R184Q(2)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		ATCATGAAGCGAATGGAACAG	0.418000														45			11		0	0	0.00136819	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514250	156514251	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156514250_156514251CC>AA	uc003lwk.2	-	6	1022_1023	c.768_769GG>TT	c.(766-771)gaggga>gaTTga	p.256_257EG>D*		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	256						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCGAATTCCCTCTGCTACTG	0.460000														472			12		0	0	6.4e-05	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186043883C>T	uc001grq.1	+	52	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2717	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCTTAAATCCGATGATCAT	0.353000														27			13		0	0	0.000308642	0	0
MAST1	22983	broad.mit.edu	37	19	12981851	12981851	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12981851G>A	uc002mvm.3	+	24	3255	c.3127_splice	c.e24-1	p.S1043_splice		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	1043	PDZ.				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						TTCCCCCAGAGTGGCAACAAG	0.592000														63			47		0	0	0.000781405	0	0
P4HTM	54681	broad.mit.edu	37	3	49043268	49043268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49043268C>T	uc003cvh.3	+	6	1664	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	P4HTM_uc003cvg.3_Missense_Mutation_p.P378S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	378	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACTGTTTTCCCTGTAGCAGA	0.512000														177			53		0	0	0.000781405	0	0
ADCY8	114	broad.mit.edu	37	8	131859744	131859744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:131859744C>T	uc003ytd.4	-	10	2684	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	810					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)			ATCGACTTGTCAAAATCACAC	0.393000										HNSCC(32;0.087)				39			10		0	0	0.000978159	0	0
DMBT1	1755	broad.mit.edu	37	10	124390604	124390604	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124390604G>A	uc001lgk.1	+	45	5872	c.5766G>A	c.(5764-5766)gtG>gtA	p.V1922V	DMBT1_uc001lgl.1_Silent_p.V1912V|DMBT1_uc001lgm.1_Silent_p.V1294V|DMBT1_uc021qaf.1_Silent_p.V1922V|DMBT1_uc021qag.1_Silent_p.V1912V|DMBT1_uc021qah.1_Silent_p.V1294V|DMBT1_uc009xzz.1_Silent_p.V1922V|DMBT1_uc010qtx.1_Silent_p.V642V|DMBT1_uc009yab.1_Silent_p.V625V|DMBT1_uc009yac.1_Silent_p.V216V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1922	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)				AAGCTGAGGTGGTCTGCAGAC	0.532000														19			42		0	0	0.0025221	0	0
PACSIN3	29763	broad.mit.edu	37	11	47203992	47203992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47203992G>A	uc001ndw.3	-	3	516	c.173C>T	c.(172-174)gCt>gTt	p.A58V	PACSIN3_uc001ndy.3_Missense_Mutation_p.A58V|PACSIN3_uc001ndx.3_Missense_Mutation_p.A58V	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	58	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GGCCCAGTCAGCCAACTGCTG	0.682000														19			15		0	0	0.000308642	0	0
SBF1	6305	broad.mit.edu	37	22	50906822	50906822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50906822G>A	uc003blh.3	-	1	319	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.P42S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	42	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.P42S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCCCTGGGGGAATGGGTTG	0.657000														27			4		0	0	0.000602214	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498223	198498223	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:198498223T>C	uc009wzd.3	-	2	224	c.189A>G	c.(187-189)ctA>ctG	p.L63L	ATP6V1G3_uc001gup.3_Silent_p.L57L|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	57					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TAGATTGTTTTAGTCGAAACT	0.338000														38			7		0	0	0.00198382	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877605	24877605	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24877605C>T	uc001wpf.4	+	2	1047	c.729C>T	c.(727-729)ccC>ccT	p.P243P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	243					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTCCTGGACCCTTTGTGGACA	0.587000														24			34		0	0	0.000953801	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399557	8399557	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:8399557C>T	uc001apb.3	+	6	1779	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	SLC45A1_uc001apc.3_Silent_p.I291I	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	593					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCAGCTATCCTGGAGAAGC	0.652000														39			31		0	0	0.00209593	0	0
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	A	A	rs140121900	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124267101G>A	uc010saj.2	-	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	49					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)		AATTTAGACCGAAAAGAATGA	0.418000														13			12		0	0	0.00185496	0	0
GRHL3	57822	broad.mit.edu	37	1	24663621	24663622	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:24663621_24663622GG>AA	uc021oiw.1	+	4	896_897	c.666_667GG>AA	c.(664-669)gaggac>gaAAac	p.D223N	GRHL3_uc001bix.3_Missense_Mutation_p.D223N|GRHL3_uc021oix.1_Missense_Mutation_p.D177N|GRHL3_uc001biy.3_Missense_Mutation_p.D228N|GRHL3_uc001biz.3_Missense_Mutation_p.D130N	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	223					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CATGTCCAGAGGACTACCCCAG	0.564000														33			11		0	0	6.4e-05	0	0
KCNA1	3736	broad.mit.edu	37	12	5020775	5020775	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5020775G>A	uc001qnh.3	+	1	1336	c.231G>A	c.(229-231)agG>agA	p.R77R	KCNA1_uc021qts.1_Silent_p.R77R	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	77					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.L76L(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCCCTGAGGAACGAGTACT	0.652000														40			21		0	0	0.00229938	0	0
LAMP5	24141	broad.mit.edu	37	20	9496969	9496969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9496969G>A	uc002wni.2	+	3	931	c.436G>A	c.(436-438)Gac>Aac	p.D146N	LAMP5_uc010zrc.2_Missense_Mutation_p.D102N	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	146						integral to membrane											GTTTGTCTACGACTCCTCGGA	0.582000														22			53		0	0	0.000781405	0	0
NUP210	23225	broad.mit.edu	37	3	13415266	13415266	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:13415266C>T	uc003bxv.1	-	11	1622	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	NUP210_uc003bxx.3_Silent_p.V185V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	513					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTGCCTGGATCACACTGAACC	0.567000														14			16		0	0	0.00074312	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144525724	144525724	+	Missense_Mutation	SNP	G	A	A	rs147613962		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:144525724G>A	uc002tvm.4	+	13	1562	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	ARHGAP15_uc002tvn.3_Missense_Mutation_p.G237S	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	471					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TAAGATCTTCGGCTCAGAGGA	0.413000														24			21		0	0	0.00152264	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837822	93837822	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93837822C>T	uc001pep.2	+	15	2968	c.2811C>T	c.(2809-2811)tcC>tcT	p.S937S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	937	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAATGAATCCTGGTATCTGG	0.353000														45			46		0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7531888	7531888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7531888G>A	uc010sge.2	-	8	2113	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163L1_uc001qsy.3_Missense_Mutation_p.S686L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	686	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S686L(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						CTCCATATCCGATGCATCTGA	0.463000														10			12		0	0	0.00136819	0	0
FBLN2	2199	broad.mit.edu	37	3	13613143	13613143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:13613143C>T	uc011avc.2	+	1	1670	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	FBLN2_uc011auz.2_Missense_Mutation_p.P456S|FBLN2_uc011avb.2_Missense_Mutation_p.P430S|FBLN2_uc011ava.2_Missense_Mutation_p.P430S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	430	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCATTCTATCCCCAGAAGTAG	0.612000														18			5		0	0	0.000602214	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22382583C>T	uc001yuc.1	+	6	1092	c.111C>T	c.(109-111)atC>atT	p.I37I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.I37I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTACCTTATCATCCTCCCTG	0.433000														256			45		0	0	0.000781405	0	0
ROBO2	6092	broad.mit.edu	37	3	77657030	77657030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:77657030C>T	uc011bgk.2	+	21	3873	c.3230C>T	c.(3229-3231)cCt>cTt	p.P1077L	ROBO2_uc021xat.1_Missense_Mutation_p.P1089L|ROBO2_uc003dpy.4_Missense_Mutation_p.P1073L|ROBO2_uc003dpz.3_Missense_Mutation_p.P1077L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P200L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1073					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)		GCCAATGTCCCTCTACCTCCC	0.423000														59			19		0	0	0.00121646	0	0
PKHD1	5314	broad.mit.edu	37	6	51889718	51889718	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51889718C>A	uc003pah.1	-	31	5166	c.4890G>T	c.(4888-4890)ggG>ggT	p.G1630G	PKHD1_uc003pai.3_Silent_p.G1630G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1630	IPT/TIG 11.				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)					CAGAGCCATTCCCTGTGGGAA	0.488000														39			34		1.836e-18	6.71484e-18	0.000692331	1	0
ZNF222	7673	broad.mit.edu	37	19	44536305	44536305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44536305C>T	uc002oye.3	+	3	693	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.L160F|ZNF222_uc002oyd.3_Missense_Mutation_p.L106F	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CATCTCAGCCCTTCATATTCA	0.423000														77			88		0	0	0.000781405	0	0
PRKCG	5582	broad.mit.edu	37	19	54403977	54403977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54403977G>A	uc002qcq.1	+	13	1831	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R	PRKCG_uc010yeg.1_Missense_Mutation_p.G517R|PRKCG_uc010yeh.1_Missense_Mutation_p.G404R	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	517	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)		CACCTTCTGCGGGACCCCGGA	0.562000														217			60		0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882168	228882168	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228882168C>T	uc002vpq.2	-	6	3449	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V	SPHKAP_uc002vpp.2_Silent_p.V1134V|SPHKAP_uc010zlx.1_Silent_p.V1134V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1134						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)		CCATCTGGTTCACCATGAACC	0.527000														55			10		0	0	0.00136819	0	0
SCN10A	6336	broad.mit.edu	37	3	38768117	38768117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38768117C>T	uc003ciq.3	-	15	3067	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1023					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)	GGGATCACTTCCTGCTGGAAG	0.532000														59			23		0	0	0.000586117	0	0
BANK1	55024	broad.mit.edu	37	4	102946546	102946546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:102946546C>T	uc003hvy.4	+	8	1748	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	BANK1_uc003hvx.4_Missense_Mutation_p.P477S|BANK1_uc010ill.3_Missense_Mutation_p.P359S|BANK1_uc003hvz.4_Missense_Mutation_p.P462S	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	492					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)		TGTGTTCATTCCTGGTGCTGA	0.498000														17			27		0	0	0.000720815	0	0
AGXT	189	broad.mit.edu	37	2	241808596	241808596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241808596G>A	uc002waa.4	+	1	296	c.175G>A	c.(175-177)Gag>Aag	p.E59K	AGXT_uc010zoi.1_Missense_Mutation_p.E59K	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	59					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)	GATCATGGACGAGATCAAGGA	0.617000														42			16		0	0	0.000566183	0	0
ABCA13	154664	broad.mit.edu	37	7	48313192	48313192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48313192C>T	uc003toq.2	+	16	3953	c.3929C>T	c.(3928-3930)tCa>tTa	p.S1310L	ABCA13_uc010kyr.2_Missense_Mutation_p.S813L|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1310					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACTTTCTTTCAAATAATCTC	0.294000														20			4		0	0	0.00024832	0	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61498624G>A	uc002jal.4	+	24	5304	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.E872K	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000														68			119		0	0	0.000781405	0	0
ANXA2	302	broad.mit.edu	37	9	33624406	33624406	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:33624406C>T	uc010mjx.3	+	0	184	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	45					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)	TTGAAACAGCCATCAAGACCA	0.483000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			30		0	0	0.000692331	0	0
TEX26	122046	broad.mit.edu	37	13	31540496	31540496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:31540496G>A	uc001uti.3	+	4	626	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	203																	TTTCAAATATGGATGCTACTC	0.368000														56			23		0	0	0.000586117	0	0
C1orf94	84970	broad.mit.edu	37	1	34663286	34663286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34663286G>A	uc001bxt.3	+	1	1619	c.781G>A	c.(781-783)Gac>Aac	p.D261N	C1orf94_uc001bxs.4_Missense_Mutation_p.D71N	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	71							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAATGTGCTGGACAAGACAAG	0.552000														66			18		0	0	0.00121646	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909513	182909513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182909513C>T	uc001gpu.3	-	2	1006	c.721G>A	c.(721-723)Gga>Aga	p.G241R	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G122R|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G99R|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	313										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GTATCTTGTCCCTCAACAGGA	0.353000														114			29		0	0	0.00283554	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481640	27481640	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27481640G>A	uc002rjk.3	-	1	444	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Silent_p.F81F	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	86					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGCCATGAAGACAAAGC	0.602000														88			14		0	0	0.000566183	0	0
TRANK1	9881	broad.mit.edu	37	3	36897504	36897504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:36897504C>T	uc003cgj.3	-	11	3825	c.3577G>A	c.(3577-3579)Gac>Aac	p.D1193N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1193					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						AAGTTCTCGTCCCTCAGGTCC	0.463000														134			109		0	0	0.000781405	0	0
OR4C11	219429	broad.mit.edu	37	11	55371061	55371061	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55371061G>A	uc010rii.2	-	0	814	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	263					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						TGTCCATGGGGAAAGTGGTCG	0.433000														2			12		0	0	0.00136819	0	0
MEGF6	1953	broad.mit.edu	37	1	3417791	3417791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3417791G>A	uc001akl.3	-	18	2623	c.2396C>T	c.(2395-2397)aCc>aTc	p.T799I	MEGF6_uc001akk.3_Missense_Mutation_p.T694I	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	799	EGF-like 13.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGCTCCGGTCTCAGGGTC	0.697000														25			5		0	0	0.00116845	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097034	69097034	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:69097034G>A	uc003hdw.4	-	6	709	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	191	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						CCCCCTCCAGGGAGCTTTTTC	0.498000														26			18		0	0	0.00121646	0	0
ASB13	79754	broad.mit.edu	37	10	5683848	5683848	+	Silent	SNP	G	A	A	rs61756319	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:5683848G>A	uc001iig.2	-	4	638	c.594C>T	c.(592-594)atC>atT	p.I198I	ASB13_uc001iih.2_Non-coding_Transcript|ASB13_uc001iii.2_Non-coding_Transcript|ASB13_uc009xic.2_Silent_p.I198I	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA.	198					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TAAGCATCTCGATGAGGTCAA	0.582000														24			24		0	0	0.00178596	0	0
ASIC4	55515	broad.mit.edu	37	2	220397091	220397091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220397091G>A	uc002vlz.3	+	3	1465	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ASIC4_uc010fwi.2_Missense_Mutation_p.E431K|ASIC4_uc010fwj.2_Missense_Mutation_p.E431K|ASIC4_uc002vly.2_3'UTR|ASIC4_uc002vma.3_Missense_Mutation_p.E431K|ASIC4_uc002vmb.3_Missense_Mutation_p.E85K	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	431						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGAGCTCAGGGAGCCTGAGCT	0.642000														27			30		0	0	0.00127121	0	0
CHIA	27159	broad.mit.edu	37	1	111862931	111862931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111862931G>A	uc001eas.3	+	11	1431	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	CHIA_uc001ear.3_Missense_Mutation_p.G317E|CHIA_uc001eaq.3_Missense_Mutation_p.G317E|CHIA_uc009wgc.3_Missense_Mutation_p.G317E|CHIA_uc001eat.3_Missense_Mutation_p.G264E|CHIA_uc001eav.3_Missense_Mutation_p.G264E|CHIA_uc001eau.3_Missense_Mutation_p.G264E|CHIA_uc009wgd.3_Missense_Mutation_p.G264E	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	425					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGCAGCTCGGGAGGCAGTGGA	0.597000														64			8		0	0	0.000442599	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367011	65367011	+	Missense_Mutation	SNP	G	A	A	rs113014372		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:65367011G>A	uc001oew.3	-	8	2553	c.2060C>T	c.(2059-2061)cCg>cTg	p.P687L	MAP3K11_uc001oev.3_Missense_Mutation_p.P103L|MAP3K11_uc010rol.2_Missense_Mutation_p.P430L|MAP3K11_uc001oex.1_Missense_Mutation_p.P194L	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	687	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGCTCGGTCGGGCAGGGCGC	0.736000														19			23		0	0	0.000878237	0	0
LIN28A	79727	broad.mit.edu	37	1	26751877	26751877	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:26751877G>A	uc001bmj.3	+	2	426	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	104	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CCAAGGGTCTGGAATCCATCC	0.527000														145			40		0	0	0.00148497	0	0
FAM71B	153745	broad.mit.edu	37	5	156592780	156592780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156592780C>T	uc003lwn.3	-	0	500	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	134						nucleus		p.H133Q(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)			TTCTCATGATCGTGGATGGAG	0.527000														347			116		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55540730	55540730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:55540730G>A	uc003xsd.1	+	3	4436	c.4288G>A	c.(4288-4290)Gat>Aat	p.D1430N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1430					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGTTTCAGGATGAAAATGC	0.373000														32			14		0	0	0.00244969	0	0
DBC1	1620	broad.mit.edu	37	9	121930399	121930399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:121930399C>T	uc004bkc.2	-	7	1705	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	417					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTGGTGCTGCCGTGGCACACG	0.612000														16			8		0	0	0.000274275	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53303922G>A	uc002qad.3	-	3	1333	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000														75			52		0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141773462	141773462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:141773462C>T	uc002tvj.1	-	12	2965	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	665					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)		TCATCTTCCTCCCAGTCTGTC	0.408000										TSP Lung(27;0.18)				38			9		0	0	0.000673444	0	0
ASB1	51665	broad.mit.edu	37	2	239342322	239342322	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:239342322G>A	uc002vyg.3	+	1	263	c.177G>A	c.(175-177)gaG>gaA	p.E59E		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	59					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TATTGCAAGAGGAGAGCTACC	0.602000														80			13		0	0	0.000422831	0	0
SYT8	90019	broad.mit.edu	37	11	1858068	1858068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1858068G>A	uc001lue.1	+	6	937	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	SYT8_uc001lud.2_Missense_Mutation_p.R270Q|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	270	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGAGGCTCGAGGCCTGCGT	0.687000														9			11		0	0	0.000978159	0	0
BDKRB2	624	broad.mit.edu	37	14	96707829	96707829	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96707829G>A	uc010avm.1	+	2	1360	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.G361G|BDKRB2_uc001yfg.2_Silent_p.G388G	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	388					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.G388E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACTGGGCAGGGAGCAGACAGT	0.552000														35			14		0	0	0.000308642	0	0
DPP4	1803	broad.mit.edu	37	2	162873628	162873628	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:162873628C>T	uc002ubz.3	-	16	2019	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	DPP4_uc010fpb.3_Silent_p.V162V	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	486					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.V486M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTTTATCATTCACGCTGCTGT	0.343000														24			13		0	0	0.00185496	0	0
CALCRL	10203	broad.mit.edu	37	2	188245419	188245419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:188245419C>T	uc010frt.3	-	4	663	c.280G>A	c.(280-282)Gac>Aac	p.D94N	CALCRL_uc002upv.4_Missense_Mutation_p.D94N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	94						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)			GGATCAAAGTCCTGAAAGTAA	0.398000														32			21		0	0	0.00047179	0	0
DUSP27	92235	broad.mit.edu	37	1	167095448	167095448	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167095448C>T	uc001geb.1	+	4	1096	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	360					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCAGGGCCTCCTCTCAGACA	0.652000														28			4		0	0	0.000602214	0	0
MYH9	4627	broad.mit.edu	37	22	36688254	36688254	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36688254C>T	uc003apg.3	-	30	4353	c.4122G>A	c.(4120-4122)gaG>gaA	p.E1374E		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1374					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						CCACACTGTCCTCCATCTTCT	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					187			86		0	0	0.000781405	0	0
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:79470843G>A	uc001diq.4	-	1	240	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	28	EGF-like 1.				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)		TTGCATTTGGGAGACAAGGTG	0.343000														43			55		0	0	0.000781405	0	0
MYL4	4635	broad.mit.edu	37	17	45299208	45299208	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45299208C>T	uc002ilg.3	+	4	602	c.474C>T	c.(472-474)gtC>gtT	p.V158V	MYL4_uc002ilh.3_Silent_p.V158V	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	158	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TTCGGCACGTCCTTGCCACCC	0.602000														33			13		0	0	0.00244969	0	0
DGKB	1607	broad.mit.edu	37	7	14880849	14880849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:14880849C>T	uc003ssz.3	-	0	227	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	DGKB_uc011jxt.2_Missense_Mutation_p.E14K|DGKB_uc003sta.3_Missense_Mutation_p.E14K|DGKB_uc011jxu.2_Missense_Mutation_p.E14K|DGKB_uc011jxv.1_Missense_Mutation_p.E14K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	14					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)	TGGGAAAATTCCGAAGGGCTG	0.378000														14			33		0	0	0.00128727	0	0
APOB	338	broad.mit.edu	37	2	21234080	21234080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21234080G>A	uc002red.3	-	25	5788	c.5660C>T	c.(5659-5661)tCa>tTa	p.S1887L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1887					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)	CAGTGAGTCTGAATTATAGTT	0.488000														323			95		0	0	0.000781405	0	0
UNC45A	55898	broad.mit.edu	37	15	91491904	91491904	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:91491904C>T	uc002bqg.3	+	12	2098	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	UNC45A_uc002bqd.3_Silent_p.L571L|UNC45A_uc010uqr.2_5'UTR|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	586					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGTCAGTGCTCTTTGCGGTGG	0.597000														117			150		0	0	0.000781405	0	0
SEPT3	55964	broad.mit.edu	37	22	42383211	42383211	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:42383211G>A	uc003bbr.4	+	4	470	c.332_splice	c.e4-1	p.V111_splice	SEPT3_uc003bbs.4_Splice_Site_p.V111_splice|SEPT3_uc011apj.2_Splice_Site_p.V47_splice|SEPT3_uc010gys.3_Intron	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	111					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CACCCCCAGTGATAGAGGAAG	0.522000														92			8		0	0	0.000274275	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582012	84582012	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:84582012A>C	uc002bjz.4	+	15	2093	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E623D	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCTCCTGGAAGCATGTGATG	0.612000														5			13		0	0	0.00136819	0	0
ALPK2	115701	broad.mit.edu	37	18	56205220	56205220	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56205220G>A	uc002lhj.4	-	4	2413	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	ALPK2_uc002lhk.1_Silent_p.F64F	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	733							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						GGTCTTCCCTGAAATTGTCAG	0.468000														135			79		0	0	0.000781405	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987878	50987878	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50987878G>A	uc003bmi.3	+	0	1417	c.1283G>A	c.(1282-1284)tGg>tAg	p.W428*		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	428										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGACGCCTGGACCCCACGC	0.672000														116			72		0	0	0.000781405	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039597	36039597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:36039597G>A	uc003jjz.2	-	4	1189	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	UGT3A2_uc011cos.2_Missense_Mutation_p.P319S|UGT3A2_uc011cot.2_Missense_Mutation_p.P51S	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	353						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)			TCACTCTGAGGAAGCCAGTCC	0.537000														56			18		0	0	0.00152264	0	0
EIF3A	8661	broad.mit.edu	37	10	120801559	120801560	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:120801559_120801560GG>AA	uc001ldu.3	-	18	3618_3619	c.3472_3473CC>TT	c.(3472-3474)ccc>TTc	p.P1158F	EIF3A_uc010qsu.2_Missense_Mutation_p.P1124F|EIF3A_uc009xzg.1_Missense_Mutation_p.P197F	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1158	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCCCGTCTGGGAAACCGATCA	0.475000														73			20		0	0	6.4e-05	0	0
ABCA3	21	broad.mit.edu	37	16	2373621	2373621	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2373621G>A	uc002cpy.1	-	6	1228	c.516C>T	c.(514-516)ttC>ttT	p.F172F	ABCA3_uc010bsk.1_Silent_p.F172F|ABCA3_uc010bsl.1_Silent_p.F172F|ABCA3_uc002cpz.1_Silent_p.F172F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	172					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F172F(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCTTTCAGGAAAAAGGAGC	0.498000														249			95		0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21229324	21229324	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21229324G>T	uc002red.3	-	25	10544	c.10416C>A	c.(10414-10416)acC>acA	p.T3472T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3472	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.T3472T(4)		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)	CTCCTTTAGCGGTAGAGTACA	0.398000														382			10		2.17888e-05	7.92893e-05	0.000442599	1	0
TTC13	79573	broad.mit.edu	37	1	231048465	231048465	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:231048465C>A	uc001huf.4	-	18	2175	c.2133G>T	c.(2131-2133)acG>acT	p.T711T	TTC13_uc001hug.4_Silent_p.T657T|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.T600T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	711							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCCTTTCTTCCGTGGTTTGAG	0.323000														230			7		0.00198382	0.00716019	0.00198382	1	0
PTPRT	11122	broad.mit.edu	37	20	40739032	40739032	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:40739032G>A	uc002xkg.3	-	22	3379	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	PTPRT_uc010ggj.3_Silent_p.F1084F|PTPRT_uc010ggi.3_Silent_p.F268F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1065	Tyrosine-protein phosphatase 1.				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)				CCTGGCGGACGAAGCCCAGAA	0.622000														15			34		0	0	0.000814825	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894981	86894981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86894981C>T	uc010mpz.3	-	15	1883	c.1737G>A	c.(1735-1737)atG>atA	p.M579I	SLC28A3_uc011lsy.2_Missense_Mutation_p.M510I|SLC28A3_uc004anu.2_Missense_Mutation_p.M579I	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	579					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGAAGGAGCCATGGATGCTG	0.532000														19			8		0	0	0.000274275	0	0
GBP1P1	400759	broad.mit.edu	37	1	89890038	89890038	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:89890038C>T	uc009wcy.1	+	4		c.779C>T								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		CTTGAGGTTTCTGTTTTTCTG	0.488000														134			37		0	0	0.000814825	0	0
ACACA	31	broad.mit.edu	37	17	35548085	35548085	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:35548085G>A	uc002hnm.3	-	37	4628	c.4437C>T	c.(4435-4437)ccC>ccT	p.P1479P	ACACA_uc002hnk.3_Silent_p.P1401P|ACACA_uc002hnl.3_Silent_p.P1421P|ACACA_uc002hnn.3_Silent_p.P1479P|ACACA_uc002hno.3_Silent_p.P1516P|ACACA_uc010cuy.3_Silent_p.P173P	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1479					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGATAACCGTGGGCACAAAGT	0.453000														49			14		0	0	0.000308642	0	0
PCDH18	54510	broad.mit.edu	37	4	138450973	138450973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:138450973C>T	uc003ihe.4	-	0	2657	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	PCDH18_uc003ihf.4_Missense_Mutation_p.G750E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G537E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	757					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)					TGTGATGTCCCCTTTGTGAAT	0.493000														20			15		0	0	0.000422831	0	0
HEATR8	374977	broad.mit.edu	37	1	55166875	55166875	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:55166875G>A	uc010ooe.1	+	18	3489	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.G573G|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.G257G	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1055						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACATGGATGGGATGCTGGTGG	0.592000														34			32		0	0	0.00058488	0	0
SORCS1	114815	broad.mit.edu	37	10	108357117	108357117	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:108357117A>G	uc001kyl.3	-	23	3439	c.3257T>C	c.(3256-3258)tTa>tCa	p.L1086S	SORCS1_uc021pxw.1_Missense_Mutation_p.L1086S|SORCS1_uc009xxs.3_Missense_Mutation_p.L1086S|SORCS1_uc001kym.3_Missense_Mutation_p.L1086S|SORCS1_uc001kyn.2_Missense_Mutation_p.L1086S|SORCS1_uc001kyo.3_Missense_Mutation_p.L1086S	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1086						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCCGCTGTTAAGTGAGCAGC	0.502000														14			14		0	0	0.00074312	0	0
OR6N1	128372	broad.mit.edu	37	1	158736239	158736239	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158736239G>A	uc010piq.2	-	0	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCATCTTAGGGATGGTGGCAG	0.498000														49			34		0	0	0.000692331	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409675	59409675	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:59409675G>A	uc003xtm.4	-	2	459	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	132					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGCCCTGCAGGGTTTTGATGA	0.458000									Neonatal Giant Cell Hepatitis					56			28		0	0	0.000878237	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141207	143141207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143141207G>A	uc011ktg.2	+	0	662	c.662G>A	c.(661-663)gGa>gAa	p.G221E	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	221					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACATCTCTGGGAAGACACAGG	0.458000														74			47		0	0	0.000781405	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915870	25915870	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25915870G>A	uc011dkb.2	-	8	1151	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	SLC17A2_uc011dkc.2_Intron|SLC17A2_uc003nfl.3_Intron			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	356					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						ATGGAAGGAGGAGCCCTGGGC	0.493000														30			11		0	0	0.00136819	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325271	150325271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150325271C>T	uc022apv.1	-	2	1105	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GIMAP6_uc003whn.3_Missense_Mutation_p.D139N|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	139							GTP binding	p.E209K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTGCTGATCCTCATCCGTG	0.642000														67			48		0	0	0.000781405	0	0
C15orf39	56905	broad.mit.edu	37	15	75498755	75498755	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:75498755C>T	uc002azp.4	+	1	686	c.366C>T	c.(364-366)taC>taT	p.Y122Y	C15orf39_uc002azq.4_Silent_p.Y122Y|C15orf39_uc021sqm.1_5'Flank|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	122										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTCACTCCTACCCAGGCCCAC	0.612000														10			5		0	0	0.000157383	0	0
ZNF527	84503	broad.mit.edu	37	19	37879873	37879873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37879873G>A	uc010efk.1	+	4	1033	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF527_uc002ogf.3_Missense_Mutation_p.G276R|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	308					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)			CAATGACTGTGGAAAAGCCTT	0.393000														54			62		0	0	0.000781405	0	0
PITPNM3	83394	broad.mit.edu	37	17	6367089	6367089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:6367089C>T	uc002gdd.4	-	16	2420	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	PITPNM3_uc010cln.3_Missense_Mutation_p.D721N|PITPNM3_uc010clm.3_Missense_Mutation_p.D240N|PITPNM3_uc002gdc.4_Missense_Mutation_p.D348N	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	757					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACCTTGGGGTCGCTTCCCATG	0.632000														3			7		0	0	0.000274275	0	0
GLI2	2736	broad.mit.edu	37	2	121740331	121740331	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:121740331C>T	uc010flp.3	+	9	1588	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	GLI2_uc002tmq.1_Silent_p.L192L|GLI2_uc002tmr.1_Silent_p.L175L|GLI2_uc002tmt.4_Silent_p.L192L|GLI2_uc002tmu.4_Silent_p.L175L|GLI2_uc002tmw.1_Silent_p.L503L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	520					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)				CCTGGAGAACCTGAAGACACA	0.632000														37			16		0	0	0.00074312	0	0
THSD7B	80731	broad.mit.edu	37	2	138413132	138413132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:138413132C>T	uc002tva.1	+	20	3917	c.3917C>T	c.(3916-3918)tCa>tTa	p.S1306L	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)		CACAGTGGTTCAATATCTCAT	0.507000														11			6		0	0	0.00198382	0	0
KCNK15	60598	broad.mit.edu	37	20	43379280	43379280	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43379280C>A	uc002xmr.3	+	1	858	c.794C>A	c.(793-795)cCc>cAc	p.P265H		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	265						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				Agcccgcgccccccgggggcg	0.751000														5			12		4.3838e-07	1.59641e-06	0.00185496	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130381225	130381225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:130381225G>A	uc003qbt.3	+	9	980	c.804G>A	c.(802-804)atG>atA	p.M268I	L3MBTL3_uc003qbu.3_Missense_Mutation_p.M243I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTTGGCATGAAATTAGAAG	0.393000														14			19		0	0	0.00278032	0	0
RANBP2	5903	broad.mit.edu	37	2	109380827	109380827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:109380827C>T	uc002tem.4	+	19	3958	c.3832C>T	c.(3832-3834)Cca>Tca	p.P1278S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1278	RanBD1 1.				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						GTTGCCAAAACCAGAACAACT	0.393000														82			8		0	0	0.000442599	0	0
SPAG8	26206	broad.mit.edu	37	9	35811392	35811392	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35811392G>A	uc003zye.3	-	1	766	c.651C>T	c.(649-651)ttC>ttT	p.F217F	SPAG8_uc003zyg.3_Silent_p.F217F	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	217						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGGTTTCTGAACCCTGGAG	0.582000														126			40		0	0	0.000680045	0	0
DAG1	1605	broad.mit.edu	37	3	49570616	49570616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49570616C>T	uc021wxz.1	+	2	3141	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L	DAG1_uc021wya.1_Missense_Mutation_p.P891L|DAG1_uc021wyb.1_Missense_Mutation_p.P891L|DAG1_uc021wyc.1_Missense_Mutation_p.P891L|DAG1_uc021wyd.1_Missense_Mutation_p.P891L|DAG1_uc021wye.1_Missense_Mutation_p.P891L|DAG1_uc021wyf.1_Missense_Mutation_p.P891L|DAG1_uc021wyg.1_Missense_Mutation_p.P891L|DAG1_uc021wyh.1_Missense_Mutation_p.P891L|DAG1_uc021wyi.1_Missense_Mutation_p.P891L|DAG1_uc021wyj.1_Missense_Mutation_p.P891L|DAG1_uc021wyk.1_Missense_Mutation_p.P891L|DAG1_uc003cxc.4_Missense_Mutation_p.P891L	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	891	Pro-rich.|Required for binding DMD and UTRN.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCACCTCCTCCCTATGTCCCA	0.652000														25			9		0	0	0.000442599	0	0
GLI3	2737	broad.mit.edu	37	7	42005516	42005516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:42005516G>A	uc011kbh.2	-	14	3246	c.3155C>T	c.(3154-3156)cCc>cTc	p.P1052L	GLI3_uc011kbg.2_Missense_Mutation_p.P993L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1052					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						GCCGCCCTCGGGCCGCGTGTA	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					50			31		0	0	0.00178596	0	0
RTP3	83597	broad.mit.edu	37	3	46542035	46542035	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46542035G>A	uc003cps.1	+	1	413	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	115					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CAAGGATCCTGAAAAACCTGG	0.463000														64			53		0	0	0.000781405	0	0
CD5	921	broad.mit.edu	37	11	60889213	60889214	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:60889213_60889214GG>AA	uc009ynk.3	+	5	1039_1040	c.936_937GG>AA	c.(934-939)tgggag>tgAAag	p.312_313WE>*K		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	312	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGCTGCGGTGGGAGGAGGTGTG	0.653000														17			11		0	0	6.4e-05	0	0
BCL7A	605	broad.mit.edu	37	12	122496996	122496996	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122496996A>G	uc001ubo.3	+	6	762	c.625_splice	c.e6-2	p.D209_splice	BCL7A_uc001ubp.3_Splice_Site_p.D188_splice	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	188					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCTCTCCCCAAGGATTTGGAA	0.537000			T	MYC	BNHL									33			30		0	0	0.00058488	0	0
HNF4A	3172	broad.mit.edu	37	20	43057087	43057087	+	Silent	SNP	C	T	T	rs141448616		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43057087C>T	uc002xma.3	+	8	1331	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	HNF4A_uc002xlu.3_Silent_p.N392N|HNF4A_uc002xlv.3_Silent_p.N392N|HNF4A_uc010ggq.3_Silent_p.N407N|HNF4A_uc002xlz.3_Silent_p.N414N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	414					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)			ACCTCAGCAACGGACAGATGT	0.582000														239			65		0	0	0.000781405	0	0
KRT71	112802	broad.mit.edu	37	12	52943863	52943863	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52943863C>T	uc001sao.3	-	1	676	c.606G>A	c.(604-606)ctG>ctA	p.L202L		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	202	Coil 1B.|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)		GCTCCGAGTCCAGCCTCACCC	0.587000														48			61		0	0	0.000781405	0	0
C6	729	broad.mit.edu	37	5	41201788	41201788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41201788C>T	uc003jmk.2	-	2	382	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C6_uc003jml.1_Missense_Mutation_p.E58K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	58	TSP type-1 1.				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)				CAAAAGTTTTCCTGGTAGTAC	0.408000														39			8		0	0	0.000274275	0	0
ENPEP	2028	broad.mit.edu	37	4	111397858	111397858	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:111397858C>T	uc003iab.4	+	0	630	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	96					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F96F(2)		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)	TGCCGGACTTCGTCAACCCAG	0.627000														62			25		0	0	0.000586117	0	0
PKHD1	5314	broad.mit.edu	37	6	51503726	51503726	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51503726A>C	uc003pah.1	-	63	11703	c.11427T>G	c.(11425-11427)ggT>ggG	p.G3809G		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3809					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)					AGCTAACATAACCATCTTGAG	0.383000														62			39		0	0	0.00222228	0	0
MUC16	94025	broad.mit.edu	37	19	9048344	9048344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9048344C>T	uc002mkp.3	-	4	33491	c.33287G>A	c.(33286-33288)gGa>gAa	p.G11096E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11098	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						GGTCACCACTCCTGATACCCC	0.507000														29			24		0	0	0.00278032	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516270	138516270	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:138516270G>A	uc010nbd.1	-	4	758	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	168					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGCTGAAGAGGAAGTCCACCT	0.597000														31			28		0	0	0.001512	0	0
TTLL2	83887	broad.mit.edu	37	6	167754223	167754223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:167754223C>T	uc003qvs.1	+	2	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	279	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398000														76			60		0	0	0.000781405	0	0
ITGAE	3682	broad.mit.edu	37	17	3643113	3643113	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:3643113G>A	uc002fwo.4	-	19	2607	c.2508C>T	c.(2506-2508)gcC>gcT	p.A836A		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	836					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGACGGTGGTGGCCAACTGTA	0.537000														6			44		0	0	0.000781405	0	0
CHRNB3	1142	broad.mit.edu	37	8	42591761	42591761	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:42591761G>A	uc003xpi.1	+	5	1505	c.1377G>A	c.(1375-1377)taG>taA	p.*459*		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	0					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)			GTTACCATTAGGAATTTAAAA	0.413000														52			37		0	0	0.00170553	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41055862	41055862	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41055862A>G	uc003jmj.4	-	9	1505	c.1015T>C	c.(1015-1017)Ttg>Ctg	p.L339L	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	339							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						TTGACAGCCAATCTTAACAAA	0.418000														58			20		0	0	0.00278032	0	0
SGSM1	129049	broad.mit.edu	37	22	25270412	25270412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:25270412C>T	uc003abg.2	+	12	1479	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.S441F|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	441						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						AGCACTTCCTCCGTCTCTGTG	0.607000														47			6		0	0	0.00198382	0	0
ABCB5	340273	broad.mit.edu	37	7	20795182	20795182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:20795182C>T	uc010kuh.3	+	27	3946	c.3709C>T	c.(3709-3711)Cat>Tat	p.H1237Y	ABCB5_uc003suw.4_Missense_Mutation_p.H792Y	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	792					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						ACAAGGAACTCATCAAGAGCT	0.428000														60			8		0	0	0.000157383	0	0
PZP	5858	broad.mit.edu	37	12	9345244	9345244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9345244G>A	uc001qvl.3	-	11	1375	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PZP_uc009zgl.3_Missense_Mutation_p.S318F	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						TCCACTTAAGGAGAAAACACG	0.498000														59			29		0	0	0.0024448	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480488	102480488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:102480488C>T	uc002tbc.3	+	16	2450	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S606L|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S586L|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	617					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R690R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGTCTAGATCAGACAGTGAC	0.453000														39			18		0	0	0.000566183	0	0
FUT10	84750	broad.mit.edu	37	8	33247208	33247208	+	Missense_Mutation	SNP	G	A	A	rs149780215		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:33247208G>A	uc011lbi.2	-	3	801	c.635C>T	c.(634-636)cCa>cTa	p.P212L	FUT10_uc003xjc.3_Missense_Mutation_p.P169L|FUT10_uc003xjd.3_Missense_Mutation_p.P134L|FUT10_uc003xje.3_Missense_Mutation_p.P162L|FUT10_uc003xjf.3_Missense_Mutation_p.P100L|FUT10_uc003xjg.3_Missense_Mutation_p.P134L|FUT10_uc003xjh.3_Missense_Mutation_p.P162L			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	162					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GGTGATCACTGGTTTATGAAA	0.443000														27			30		0	0	0.00127121	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29323035G>A	uc011dlo.2	-	0	1020	c.938C>T	c.(937-939)tCc>tTc	p.S313F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(4)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000														18			21		0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179659879	179659879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179659879G>A	uc021vsy.1	-	6	1240	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	TTN_uc021vsz.1_Missense_Mutation_p.P339S|TTN_uc021vta.1_Missense_Mutation_p.P339S|TTN_uc021vtb.1_Missense_Mutation_p.P339S|TTN_uc002unb.2_Missense_Mutation_p.P339S|TTN_uc010frg.1_Missense_Mutation_p.P13S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	339	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G338C(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)			GGCACTTCAGGACCTGTGGCC	0.562000														52			43		0	0	0.00285205	0	0
VN1R4	317703	broad.mit.edu	37	19	53770738	53770738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53770738C>T	uc010ydu.2	-	0	181	c.181G>A	c.(181-183)Gga>Aga	p.G61R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	61					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGGGGGACTCCTTTACAGCGG	0.463000										HNSCC(26;0.072)				21			26		0	0	0.00058488	0	0
ZNF391	346157	broad.mit.edu	37	6	27369044	27369044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:27369044C>T	uc003njf.1	+	2	1413	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	ZNF391_uc021ypw.1_Missense_Mutation_p.H299Y	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	299					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						TCAGAGAATCCACAGTGGAGA	0.483000														41			17		0	0	0.000958276	0	0
KDM5B	10765	broad.mit.edu	37	1	202724528	202724528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:202724528G>A	uc009xag.3	-	11	1633	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F	KDM5B_uc001gyf.3_Missense_Mutation_p.S470F|KDM5B_uc001gyg.1_Missense_Mutation_p.S312F	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	470	JmjC.				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						TGCAAGGACAGACTGCTCCAT	0.393000														215			37		0	0	0.00170553	0	0
CAP2	10486	broad.mit.edu	37	6	17426906	17426906	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:17426906G>A	uc003ncb.3	+	2	450	c.207G>A	c.(205-207)ggG>ggA	p.G69G	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.G69G|CAP2_uc011djb.2_Silent_p.G69G|CAP2_uc011djc.2_Silent_p.G69G|CAP2_uc011djd.2_Silent_p.G69G	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	69					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.A68V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCTTGCTGGGGACGTGGAGA	0.517000														54			15		0	0	0.000422831	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760660	79760660	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:79760660G>A	uc002bew.1	+	3	2760	c.2685G>A	c.(2683-2685)ctG>ctA	p.L895L	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	895						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TAGCTGCTCTGATCGCTGCTG	0.453000														26			9		0	0	0.000274275	0	0
CD207	50489	broad.mit.edu	37	2	71061152	71061152	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71061152C>T	uc002shg.3	-	3	238	c.191_splice	c.e3-1	p.Y64_splice		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	64					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AACCGGGGATCTGGGATTGAG	0.498000														12			5		0	0	0.00116845	0	0
LIN28B	389421	broad.mit.edu	37	6	105526471	105526471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105526471C>T	uc003pqv.1	+	3	769	c.566C>T	c.(565-567)tCa>tTa	p.S189L	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	189					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CCATGCACTTCAACTCTCCCT	0.557000														22			16		0	0	0.000422831	0	0
POGK	57645	broad.mit.edu	37	1	166818322	166818322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:166818322C>T	uc001gdt.1	+	4	626	c.506C>T	c.(505-507)cCc>cTc	p.P169L	POGK_uc010ple.1_Missense_Mutation_p.P84L|POGK_uc010plf.1_Missense_Mutation_p.P51L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	169					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GAGGGGTACCCCTTCTACATG	0.582000														29			33		0	0	0.00209593	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616557	77616557	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77616557G>A	uc003yau.2	+	1	621	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZFHX4_uc003yat.1_Silent_p.K78K|ZFHX4_uc003yaw.1_Silent_p.K78K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	78						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)			CCTCAGCAAAGGAGATACCCT	0.502000										HNSCC(33;0.089)				89			29		0	0	0.001512	0	0
RXRG	6258	broad.mit.edu	37	1	165380213	165380213	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:165380213G>A	uc001gda.3	-	4	1218	c.756C>T	c.(754-756)tcC>tcT	p.S252S	RXRG_uc021pea.1_Silent_p.S129S	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	252	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TGTCACCATAGGATTCTGTCT	0.463000														63			14		0	0	0.000308642	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411979	114411979	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114411979C>T	uc004bfl.3	+	2	792	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Silent_p.L124L	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	246					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						TGATCTTCTCCTGTTTCAAAT	0.343000														54			17		0	0	0.000422831	0	0
PSD4	23550	broad.mit.edu	37	2	113940402	113940402	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:113940402G>A	uc002tjc.3	+	1	552	c.369G>A	c.(367-369)agG>agA	p.R123R	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.R122R|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	123					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCCAGAGGGAGCACAGGC	0.612000														45			11		0	0	0.00185496	0	0
AMBN	258	broad.mit.edu	37	4	71467169	71467169	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:71467169T>G	uc003hfl.3	+	5	430	c.329T>G	c.(328-330)cTc>cGc	p.L110R		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	110					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CCCCCACCTCTCCCATCACAG	0.483000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			49		0	0	0.000781405	0	0
KLHL4	56062	broad.mit.edu	37	X	86773011	86773011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:86773011G>A	uc004efa.2	+	0	297	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	KLHL4_uc004efb.2_Missense_Mutation_p.E39K	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	39						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.Q38R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCTTCAGCAGGAAGGATATGA	0.498000														19			20		0	0	0.00121646	0	0
KRT26	353288	broad.mit.edu	37	17	38928098	38928098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38928098G>A	uc002hvf.3	-	0	314	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	90	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGGTCGTTGAGATTCTGCATG	0.547000														79			26		0	0	0.00178596	0	0
C8A	731	broad.mit.edu	37	1	57347218	57347218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57347218C>T	uc001cyo.2	+	4	697	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGGAGCTTCGATATGACTC	0.453000														29			15		0	0	0.00074312	0	0
FUT3	2525	broad.mit.edu	37	19	5844594	5844594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:5844594G>A	uc002mdk.2	-	1	354	c.257C>T	c.(256-258)cCc>cTc	p.P86L	FUT3_uc002mdm.2_Missense_Mutation_p.P86L|FUT3_uc002mdj.2_Missense_Mutation_p.P86L|FUT3_uc002mdl.2_Missense_Mutation_p.P86L|FUT3_uc021unn.1_Missense_Mutation_p.P86L|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	86					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.V85L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGCTGTGCCGGGCACCATCTC	0.607000														107			29		0	0	0.00178596	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828756	13828756	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13828756A>T	uc001rbt.2	-	3	1227	c.1048T>A	c.(1048-1050)Tcc>Acc	p.S350T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	350					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)	TCACTGAAGGACAAATTCCTC	0.398000														24			16		0	0	0.00074312	0	0
INSC	387755	broad.mit.edu	37	11	15212315	15212315	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:15212315C>T	uc001mlz.3	+	5	759	c.648C>T	c.(646-648)ttC>ttT	p.F216F	INSC_uc001mly.3_Silent_p.F263F|INSC_uc001mma.3_Silent_p.F216F|INSC_uc010rcs.2_Silent_p.F251F|INSC_uc001mmb.3_Silent_p.F216F|INSC_uc001mmc.3_Silent_p.F216F	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	263				V -> M (in Ref. 2; BAE17135).	cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGAACCTGTTCAGCCTGACCC	0.507000														42			34		0	0	0.00170553	0	0
PCDH18	54510	broad.mit.edu	37	4	138453134	138453134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:138453134C>T	uc003ihe.4	-	0	496	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PCDH18_uc003ihf.4_Missense_Mutation_p.E30K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	37	Cadherin 1.				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)					ACCCTCTGTTCCTCATAAATC	0.383000														49			22		0	0	0.00188189	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949281	58949281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:58949281C>T	uc010trr.2	+	22	3398	c.3154C>T	c.(3154-3156)Cct>Tct	p.P1052S	KIAA0586_uc001xdu.4_Missense_Mutation_p.P984S|KIAA0586_uc010trs.2_Missense_Mutation_p.P914S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P955S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P923S|KIAA0586_uc010trt.2_Missense_Mutation_p.P859S|KIAA0586_uc010tru.1_Missense_Mutation_p.P859S	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	923										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTGGTGTTCCTGTGAACTC	0.423000														46			9		0	0	0.000274275	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688756	81688756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81688756C>T	uc001szo.2	-	23	2944	c.2783G>A	c.(2782-2784)gGt>gAt	p.G928D	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G854D|PPFIA2_uc021rbh.1_Missense_Mutation_p.G829D|PPFIA2_uc021rbi.1_Missense_Mutation_p.G928D|PPFIA2_uc021rbj.1_Missense_Mutation_p.G928D|PPFIA2_uc021rbk.1_Missense_Mutation_p.G913D|PPFIA2_uc021rbl.1_Missense_Mutation_p.G928D|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G495D|PPFIA2_uc021rbf.1_Missense_Mutation_p.G145D	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.	854										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						CATGATGGCACCACTCTTCAC	0.438000														9			9		0	0	0.00136819	0	0
BEST2	54831	broad.mit.edu	37	19	12866691	12866691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12866691C>T	uc002mux.3	+	6	890	c.890C>T	c.(889-891)cCc>cTc	p.P297L		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	297					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTCATCAACCCCTTCGGAGAG	0.537000														61			14		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000														56			5		0	0	0.00116845	0	0
CD22	933	broad.mit.edu	37	19	35823503	35823503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:35823503G>A	uc010edt.3	+	2	172	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	CD22_uc010edu.3_Missense_Mutation_p.E30K|CD22_uc010edv.3_Missense_Mutation_p.E30K|CD22_uc002nzb.4_Missense_Mutation_p.E30K|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	30	Ig-like V-type.				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)	TGAGCACCCTGAAACCCTCTA	0.512000														80			23		0	0	0.00188189	0	0
GPR133	283383	broad.mit.edu	37	12	131490580	131490580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:131490580C>T	uc010tbm.2	+	12	1974	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	GPR133_uc001uit.4_Missense_Mutation_p.P440L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	440					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)		AACATCTGGCCCGCCCACACC	0.657000														27			6		0	0	0.00116845	0	0
ESR1	2099	broad.mit.edu	37	6	152382133	152382133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152382133G>A	uc010kio.3	+	6	1467	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ESR1_uc003qom.4_Missense_Mutation_p.G415R|ESR1_uc010kin.3_Missense_Mutation_p.G415R|ESR1_uc010kip.3_Missense_Mutation_p.G414R|ESR1_uc003qon.4_Missense_Mutation_p.G415R|ESR1_uc010kir.3_Missense_Mutation_p.G154R|ESR1_uc003qoo.4_Missense_Mutation_p.G415R|ESR1_uc010kiq.3_Missense_Mutation_p.G13R|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.G130R|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Intron|ESR1_uc010kit.1_Silent_p.R105R|ESR1_uc011eey.2_Missense_Mutation_p.G152R	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	415	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TAGGAACCAGGGAAAATGTGT	0.383000														3			9		0	0	0.000274275	0	0
CCDC13	152206	broad.mit.edu	37	3	42775094	42775094	+	Missense_Mutation	SNP	C	A	A	rs143411503		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:42775094C>A	uc003cly.4	-	10	1463	c.1379G>T	c.(1378-1380)cGg>cTg	p.R460L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	460										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTATTCCGAAGATACTG	0.587000														72			5		0.00198382	0.00716019	0.00198382	1	0
CAPN5	726	broad.mit.edu	37	11	76823638	76823639	+	Missense_Mutation	DNP	AT	TA	TA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:76823638_76823639AT>TA	uc009yup.3	+	4	606_607	c.421_422AT>TA	c.(421-423)atc>TAc	p.I141Y	CAPN5_uc001oxx.3_Missense_Mutation_p.I101Y|CAPN5_uc009yuq.3_Missense_Mutation_p.I137Y|CAPN5_uc001oxy.3_Missense_Mutation_p.I141Y	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	101	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACCCAGGTCATCCCAGACTGG	0.614000														16			8		0	0	6.4e-05	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068932	193068932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:193068932C>T	uc011bsq.2	-	6	665	c.665G>A	c.(664-666)gGt>gAt	p.G222D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	222					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTATGTAACCTTGAGACAG	0.418000														35			10		0	0	0.000673444	0	0
LATS1	9113	broad.mit.edu	37	6	150004522	150004522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:150004522G>A	uc003qmu.1	-	3	2251	c.1703C>T	c.(1702-1704)cCa>cTa	p.P568L	LATS1_uc010kif.1_Missense_Mutation_p.P463L|LATS1_uc003qmv.2_Missense_Mutation_p.P568L|LATS1_uc003qmw.3_Missense_Mutation_p.P568L|LATS1_uc010kig.1_Missense_Mutation_p.P463L	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	568	Interaction with YAP1.				G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGAACAGATGGGTTTTGGTG	0.468000														58			48		0	0	0.000781405	0	0
C3orf25	90288	broad.mit.edu	37	3	129140478	129140478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:129140478G>A	uc003emg.3	-	1	381	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TTGGGATGCAGGATTAAGGGG	0.572000														30			12		0	0	0.00185496	0	0
METAP2	10988	broad.mit.edu	37	12	95887837	95887837	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:95887837C>G	uc001tec.3	+	4	568	c.434C>G	c.(433-435)aCa>aGa	p.T145R	METAP2_uc010suv.2_Missense_Mutation_p.T122R|METAP2_uc001tef.3_Missense_Mutation_p.T122R|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	145					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)	TAAAGGCGAACAGCTGCTTGG	0.373000														19			29		0	0	0.00127121	0	0
CHSY1	22856	broad.mit.edu	37	15	101718740	101718740	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:101718740T>C	uc021sxt.1	-	2	1738	c.1262A>G	c.(1261-1263)aAg>aGg	p.K421R	CHSY1_uc010usd.2_Missense_Mutation_p.K149R	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	421					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCTGGTCTTGGCGTTGGC	0.572000														42			28		0	0	0.00209593	0	0
DPYSL4	10570	broad.mit.edu	37	10	134014413	134014413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134014413G>A	uc009ybb.3	+	9	1190	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	346					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)		TGTGGGCAAGGACAACTTCGC	0.647000														41			15		0	0	0.000308642	0	0
AGBL1	123624	broad.mit.edu	37	15	86801215	86801215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:86801215G>A	uc002blz.1	+	7	864	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	262	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGATGATGGCGATGATGAAGT	0.433000														66			33		0	0	0.00111076	0	0
ITPR1	3708	broad.mit.edu	37	3	4714885	4714885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:4714885C>T	uc003bqc.3	+	19	2575	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	ITPR1_uc021wsi.1_Missense_Mutation_p.S757L|ITPR1_uc021wsj.1_Missense_Mutation_p.S742L|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.	757					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)		AACGAAATCTCAGGCCAGCTG	0.547000														33			9		0	0	0.000274275	0	0
PDE6C	5146	broad.mit.edu	37	10	95400711	95400711	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95400711A>T	uc001kiu.4	+	13	1910	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	591					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)				ACAGATCTCGAAGCCTTTGCC	0.348000														18			13		0	0	0.000308642	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884106	228884106	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228884106G>A	uc002vpq.2	-	6	1511	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SPHKAP_uc002vpp.2_Silent_p.S488S|SPHKAP_uc010zlx.1_Silent_p.S488S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	488						cytoplasm	protein binding	p.S488F(1)		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)		GTTGTCTGCTGGAGTTCTCTC	0.532000														41			17		0	0	0.00074312	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633927	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:6633926_6633927CC>TT	uc003jdw.3	+	0	427_428	c.237_238CC>TT	c.(235-240)ctccgc>ctTTgc	p.R80C	NSUN2_uc003jdu.3_5'Flank|NSUN2_uc011cmk.2_5'Flank|NSUN2_uc003jdv.3_5'Flank|SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.S88F	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	80					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L79L(2)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCCGCGTCTCCGCAGCGCGCC	0.738000														37			7		0	0	6.4e-05	0	0
CD86	942	broad.mit.edu	37	3	121822506	121822506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121822506G>A	uc003eet.3	+	2	340	c.212G>A	c.(211-213)gGc>gAc	p.G71D	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.G65D|CD86_uc021xcz.1_Missense_Mutation_p.G65D	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	71	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)	GTATACTTAGGCAAAGAGAAA	0.433000														41			18		0	0	0.00121646	0	0
BAI3	577	broad.mit.edu	37	6	69348981	69348981	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:69348981C>T	uc010kak.3	+	1	690	c.414C>T	c.(412-414)ttC>ttT	p.F138F	BAI3_uc003pev.4_Silent_p.F138F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	138	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAACTAATTTCCCAGGATTAC	0.333000														23			10		0	0	0.000978159	0	0
RYR3	6263	broad.mit.edu	37	15	33916059	33916059	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:33916059C>T	uc001zhi.3	+	19	2479	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	RYR3_uc010bar.3_Silent_p.P803P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	803					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)		TCCTGCCTCCCTCTGGCTATG	0.423000														69			21		0	0	0.00278032	0	0
IBA57	200205	broad.mit.edu	37	1	228363208	228363208	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228363208C>T	uc001hsl.4	+	2	1154	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	IBA57_uc010pvw.2_Silent_p.S162S	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	355					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTACAGTCTCCAAGTAGTCCG	0.627000														113			25		0	0	0.000878237	0	0
PXDN	7837	broad.mit.edu	37	2	1652631	1652631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1652631C>T	uc002qxa.3	-	16	2985	c.2921G>A	c.(2920-2922)gGg>gAg	p.G974E		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	974					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)		GCGGTGGTCCCCGGCCAGGAA	0.697000														4			12		0	0	0.00185496	0	0
MYH3	4621	broad.mit.edu	37	17	10538243	10538243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10538243C>T	uc002gmq.2	-	30	4358	c.4270G>A	c.(4270-4272)Gga>Aga	p.G1424R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1424					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						TCCACCTCTCCTTGCAGCCTC	0.512000														57			45		0	0	0.000781405	0	0
CCKAR	886	broad.mit.edu	37	4	26491787	26491787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26491787G>A	uc003gse.1	-	0	256	c.103C>T	c.(103-105)Cct>Tct	p.P35S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	35					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)	CCTTTGGAAGGACGGGGCTGA	0.438000														31			11		0	0	0.00136819	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478427	14478427	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:14478427C>T	uc010xai.2	-	2		c.1137G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		GGCGGCACATCTTCCCTGATA	0.458000														7			4		0	0	0.000602214	0	0
RCVRN	5957	broad.mit.edu	37	17	9808255	9808255	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9808255C>T	uc002gme.1	-	0	430	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	81	EF-hand 2.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCTTGAAGTCCAGGGTGCCGT	0.602000														15			22		0	0	0.00188189	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985541	140985541	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:140985541A>T	uc011mwp.2	+	7	1855	c.1855A>T	c.(1855-1857)Att>Ttt	p.I619F	MAGEC3_uc004fbs.3_3'UTR|MAGEC3_uc010nsj.3_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	619	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCCATAATTGACACCAC	0.483000														1			43		0	0	0.000680045	0	0
HOOK1	51361	broad.mit.edu	37	1	60302572	60302572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:60302572C>T	uc009wad.3	+	7	604	c.502C>T	c.(502-504)Cct>Tct	p.P168S	HOOK1_uc001czo.3_Missense_Mutation_p.P168S|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.P126S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	168	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					ATTGAGCTCTCCTCCAAATGA	0.299000														52			17		0	0	0.000958276	0	0
CCDC83	220047	broad.mit.edu	37	11	85597391	85597391	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:85597391G>A	uc001pbg.1	+	4	1004	c.492G>A	c.(490-492)gaG>gaA	p.E164E	CCDC83_uc001pbh.1_Silent_p.E164E|CCDC83_uc001pbj.1_Intron|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	164										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)				CAGTTAAAGAGAATGCAGAGA	0.363000														9			6		0	0	0.00116845	0	0
CENPE	1062	broad.mit.edu	37	4	104067125	104067125	+	Missense_Mutation	SNP	C	T	T	rs113334734	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:104067125C>T	uc003hxb.1	-	29	4364	c.4274G>A	c.(4273-4275)gGa>gAa	p.G1425E	CENPE_uc003hxc.1_Missense_Mutation_p.G1400E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1425					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGGACAATCCGAGCATTTC	0.368000														99			32		0	0	0.0024448	0	0
CCR6	1235	broad.mit.edu	37	6	167550831	167550831	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:167550831C>T	uc003qvl.3	+	12	3589	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	CCR6_uc010kkm.3_Silent_p.S371S|CCR6_uc003qvn.4_Silent_p.S371S|CCR6_uc003qvm.4_Silent_p.S371S	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	371				SSFTM -> VVLHYVIES (in Ref. 4; AAB06949).	cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ATGCGTCGTCCTTCACTATGT	0.458000														20			14		0	0	0.000422831	0	0
OR2M7	391196	broad.mit.edu	37	1	248487377	248487377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248487377G>A	uc010pzk.2	-	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GTAGGAGAAGGAAAATGTCGC	0.453000														85			44		0	0	0.000781405	0	0
MC4R	4160	broad.mit.edu	37	18	58038893	58038893	+	Silent	SNP	G	A	A	rs148026669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:58038893G>A	uc002lie.1	-	0	1109	c.690C>T	c.(688-690)ccC>ccT	p.P230P		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	230					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	p.P230P(2)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCAGTGCCGGGGAGGACAG	0.532000														54			13		0	0	0.00136819	0	0
GPR171	29909	broad.mit.edu	37	3	150916724	150916724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:150916724C>T	uc003eyq.4	-	2	690	c.450G>A	c.(448-450)atG>atA	p.M150I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.M150I	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGAATCATCATATTTGGCA	0.378000														60			24		0	0	0.00278032	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008485	149008485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:149008485G>A	uc003lra.1	+	11	1838	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	592					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCTAACACCGGAGCCCAGCCC	0.612000														17			9		0	0	0.000442599	0	0
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:128262702C>T	uc002ton.2	-	2	1080	c.777G>A	c.(775-777)caG>caA	p.Q259Q	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537000														142			52		0	0	0.000781405	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122340	39122340	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39122340C>T	uc003awg.3	+	7	1450	c.1296C>T	c.(1294-1296)gaC>gaT	p.D432D		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	432					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGGCCCAGACCCCTTGGGTA	0.592000														41			56		0	0	0.000781405	0	0
SRBD1	55133	broad.mit.edu	37	2	45645518	45645518	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:45645518G>A	uc002rus.3	-	17	2395	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	SRBD1_uc010yoc.2_Silent_p.I292I	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	773					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAACGTTCGGATATAATCCT	0.413000														85			27		0	0	0.000692331	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629048	51629048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51629048G>A	uc010yct.2	+	1	711	c.616G>A	c.(616-618)Gac>Aac	p.D206N	SIGLEC9_uc002pvu.3_Missense_Mutation_p.D206N	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	206	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.Q205R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAGCCCCAGGACCATGGCAC	0.657000														32			46		0	0	0.00285205	0	0
TTC12	54970	broad.mit.edu	37	11	113210067	113210067	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:113210067G>C	uc001pnv.3	+	9	820	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	TTC12_uc001pnu.3_Missense_Mutation_p.E233Q|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.E83Q	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	233							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGAAGCCCACGAACTGCTGGA	0.463000														37			22		0	0	0.00278032	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493629	150493629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150493629C>T	uc022apx.1	-	0	155	c.29G>A	c.(28-30)gGa>gAa	p.G10E	TMEM176B_uc003whu.4_Missense_Mutation_p.G10E|TMEM176B_uc003whv.4_Missense_Mutation_p.G10E|TMEM176B_uc003whw.4_Missense_Mutation_p.G10E	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	10					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCAACTCCATTCACAAT	0.537000														38			54		0	0	0.000781405	0	0
CFH	3075	broad.mit.edu	37	1	196706692	196706692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196706692C>T	uc001gtj.4	+	16	2924	c.2684C>T	c.(2683-2685)aCt>aTt	p.T895I	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.	895	Sushi 15.				complement activation, alternative pathway	extracellular space		p.G894G(1)		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						GCACATGGGACTAAATTGAGT	0.383000														36			7		0	0	0.00198382	0	0
TEX29	121793	broad.mit.edu	37	13	111995208	111995208	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:111995208G>A	uc001vsa.3	+	4	474	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	115						integral to membrane											GCAAGTTAGGGCTGAAGCCTG	0.562000														1			46		0	0	0.000781405	0	0
ZNF883	169834	broad.mit.edu	37	9	115760208	115760208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:115760208G>A	uc011lwy.2	-	4	1571	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATTTCTAAGGGATGACCTATG	0.383000														49			16		0	0	0.000308642	0	0
SCN1A	6323	broad.mit.edu	37	2	166892893	166892893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166892893C>T	uc002udo.4	-	17	3321	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1004K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1021K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1032						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1032N(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)	TGAATAAATTCATATATTTTT	0.323000														45			16		0	0	0.000566183	0	0
CNOT3	4849	broad.mit.edu	37	19	54649670	54649670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54649670C>T	uc002qdj.2	+	8	1052	c.728C>T	c.(727-729)cCt>cTt	p.P243L	CNOT3_uc010yel.2_Missense_Mutation_p.P243L|CNOT3_uc002qdi.3_Missense_Mutation_p.P156L|CNOT3_uc002qdk.2_Missense_Mutation_p.P243L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	243					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCACCTCCCCTCCCAGCCAC	0.637000														53			14		0	0	0.000566183	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156526	70156526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:70156526C>T	uc003hej.3	+	4	1309	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	436					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTAATGATCCTTCGTGAGTA	0.398000														5			9		0	0	0.000442599	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687247	8687247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8687247C>T	uc001quo.1	-	5	812	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	216						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AAGAGATTTTCCTTTGTTCAA	0.408000														35			16		0	0	0.000422831	0	0
LUC7L	55692	broad.mit.edu	37	16	256035	256035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:256035C>T	uc002cgc.1	-	4	589	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	LUC7L_uc002cga.1_Missense_Mutation_p.E160K|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Missense_Mutation_p.E160K|LUC7L_uc021szo.1_Missense_Mutation_p.E107K|LUC7L_uc002cgb.1_Missense_Mutation_p.E74K	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA.	160							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGAACTTTTTCCACTTCCATA	0.413000														106			34		0	0	0.00058488	0	0
CDH6	1004	broad.mit.edu	37	5	31322980	31322980	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:31322980C>T	uc003jhe.2	+	11	2298	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	646					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						AGCCTTTGATCATTTCCAAAG	0.463000														47			22		0	0	0.00047179	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42223929C>T	uc002orl.3	+	6	1694	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_uc002orj.1_Missense_Mutation_p.P524S	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	525	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567000														85			67		0	0	0.000781405	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563899	127563899	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:127563899C>T	uc004bov.3	+	4	989	c.876C>T	c.(874-876)acC>acT	p.T292T	OLFML2A_uc010mwr.1_Silent_p.T256T|OLFML2A_uc004bow.3_Silent_p.T78T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	292										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGGGCTTCACCTACTACAAGG	0.637000														14			25		0	0	0.00127121	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966780	41966780	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:41966780G>A	uc010skn.2	+	9	2207	c.2199G>A	c.(2197-2199)aaG>aaA	p.K733K	PDZRN4_uc001rmq.4_Silent_p.K475K|PDZRN4_uc009zjz.3_Silent_p.K473K|PDZRN4_uc001rmr.3_Silent_p.K360K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	733							ubiquitin-protein ligase activity|zinc ion binding	p.L732R(1)		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)				AGTCTGACAAGGACAGTTCTA	0.478000														61			24		0	0	0.00278032	0	0
ABCC2	1244	broad.mit.edu	37	10	101563847	101563847	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:101563847T>G	uc001kqf.2	+	9	1420	c.1281T>G	c.(1279-1281)gaT>gaG	p.D427E		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	427	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCTGTGGATGCCCAGAAGC	0.458000														22			13		0	0	0.00185496	0	0
PTPRB	5787	broad.mit.edu	37	12	71029509	71029509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:71029509C>T	uc001swc.4	-	1	438	c.393G>A	c.(391-393)atG>atA	p.M131I	PTPRB_uc001swa.4_Missense_Mutation_p.M131I|PTPRB_uc001swd.4_Missense_Mutation_p.M130I|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.M131I	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				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)			CATCTATTTTCATCCAGCTAT	0.438000														29			11		0	0	0.000978159	0	0
UBXN2B	137886	broad.mit.edu	37	8	59352256	59352256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:59352256C>T	uc003xtl.3	+	5	720	c.598C>T	c.(598-600)Cat>Tat	p.H200Y		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	200	SEP.					Golgi apparatus|cytosol|endoplasmic reticulum|nucleus		p.D199N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TATGGAGGATCATCAGGATCA	0.383000														55			27		0	0	0.000878237	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393508	145393508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:145393508C>T	uc003lnt.3	+	4	1181	c.943C>T	c.(943-945)Cct>Tct	p.P315S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P315S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	315							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCATTCTCCTTCAGGGCG	0.577000														30			43		0	0	0.000781405	0	0
LOC401010	401010	broad.mit.edu	37	2	132201396	132201396	+	Silent	SNP	G	A	A	rs140401332	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:132201396G>A	uc002tst.2	-	0	1072	c.606C>T	c.(604-606)ttC>ttT	p.F202F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TGAAACTGATGAAGGGGAGGG	0.592000														22			22		0	0	0.00278032	0	0
RAB40C	57799	broad.mit.edu	37	16	677503	677503	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:677503C>T	uc021szt.1	+	6	949	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	RAB40C_uc021szu.1_Silent_p.L243L|RAB40C_uc021szv.1_Silent_p.L243L|RAB40C_uc002chq.3_Silent_p.L224L|RAB40C_uc002chr.3_Silent_p.L243L|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	243					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TTCCTACTCCCTGGCCAGCGG	0.657000														68			34		0	0	0.000953801	0	0
ABCB4	5244	broad.mit.edu	37	7	87032569	87032569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:87032569C>T	uc003uiv.1	-	26	3612	c.3536G>A	c.(3535-3537)gGg>gAg	p.G1179E	ABCB4_uc003uiw.1_Missense_Mutation_p.G1172E|ABCB4_uc003uix.1_Missense_Mutation_p.G1125E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1179	ABC transporter 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)					GAGCTGAGTCCCCTTATCTCC	0.408000														88			36		0	0	0.00128727	0	0
TTN	7273	broad.mit.edu	37	2	179466271	179466271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179466271C>T	uc021vsy.1	-	235	47974	c.47749G>A	c.(47749-47751)Gat>Aat	p.D15917N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9612N|TTN_uc021vta.1_Missense_Mutation_p.D9545N|TTN_uc021vtb.1_Missense_Mutation_p.D9420N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16844	Fibronectin type-III 15.						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)			ACTTTCAGATCTTTGGGTGGG	0.388000														61			21		0	0	0.00278032	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374907	8374907	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8374907C>T	uc001qui.2	-	6	1465	c.906G>A	c.(904-906)ctG>ctA	p.L302L	FAM90A1_uc001quh.2_Silent_p.L302L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	302							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGGAAGTTCAGGCAAGCCT	0.642000														69			9		0	0	0.000673444	0	0
SYNE1	23345	broad.mit.edu	37	6	152655162	152655162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152655162C>T	uc021zhb.1	-	74	12998	c.12775G>A	c.(12775-12777)Gaa>Aaa	p.E4259K	SYNE1_uc003qot.4_Missense_Mutation_p.E4188K|SYNE1_uc003qou.4_Missense_Mutation_p.E4259K|SYNE1_uc010kiz.3_Missense_Mutation_p.E14K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4259					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	p.E4259K(3)|p.E4188K(1)		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)		TTATCCCATTCTGTAGTAAAT	0.373000										HNSCC(10;0.0054)				67			49		0	0	0.000781405	0	0
HEATR2	54919	broad.mit.edu	37	7	825182	825182	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:825182C>T	uc010krz.1	+	12	2480	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	HEATR2_uc003siz.2_Silent_p.F688F|HEATR2_uc003sjb.2_Silent_p.F200F|HEATR2_uc003sjc.2_Silent_p.F245F	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	820							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCGGGCTGTTCCCAGATCTCC	0.552000														106			72		0	0	0.000781405	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33958864	33958864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:33958864C>T	uc001bxj.4	+	6	1689	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	ZSCAN20_uc009vui.3_Missense_Mutation_p.R507C	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	508					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)				GGAAAAGCTTCGTACCTGTCA	0.562000														28			30		0	0	0.00178596	0	0
KCNH1	3756	broad.mit.edu	37	1	211192539	211192539	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:211192539G>A	uc001hib.2	-	5	788	c.618C>T	c.(616-618)ccC>ccT	p.P206P	KCNH1_uc001hic.2_Silent_p.P206P	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	206					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGATGTGAGGGGGAGTCTTTG	0.438000														49			69		0	0	0.000781405	0	0
KIAA1324	57535	broad.mit.edu	37	1	109743496	109743497	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:109743496_109743497GG>TT	uc021orb.1	+	20	3168_3169	c.2947_2948GG>TT	c.(2947-2949)ggg>TTg	p.G983L	KIAA1324_uc009wex.2_Missense_Mutation_p.G933L|KIAA1324_uc010ovg.2_Missense_Mutation_p.G881L|KIAA1324_uc009wey.3_Missense_Mutation_p.G896L|KIAA1324_uc001dwr.3_Missense_Mutation_p.G633L	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	983					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTCACTCTTTGGGAAGATCAAA	0.545000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		730			13		0	0	6.4e-05	0	0
VGLL3	389136	broad.mit.edu	37	3	87018183	87018183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:87018183C>T	uc003dqn.3	-	2	858	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGATGAACTCCCCCCAAACA	0.577000														122			27		0	0	0.00106085	0	0
EYA2	2139	broad.mit.edu	37	20	45618738	45618739	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:45618738_45618739GG>AA	uc002xsm.3	+	1	463_464	c.89_90GG>AA	c.(88-90)tgg>tAA	p.W30*	EYA2_uc010ghp.3_Nonsense_Mutation_p.W30*|EYA2_uc021wep.1_Non-coding_Transcript|EYA2_uc002xsq.3_Nonsense_Mutation_p.W30*	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	30					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTGCTGTGTGGACTCTGAGTG	0.495000														39			16		0	0	6.4e-05	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192188	125192188	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:125192188C>T	uc010flu.3	+	4	1021	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CNTNAP5_uc002tno.3_Silent_p.F219F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	219	Laminin G-like 1.				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)		GGGTCCTGTTCCATGGAGAAG	0.502000														17			20		0	0	0.00121646	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	139003	139003	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrGL000213.1:139003C>T	uc011mfl.1	-	0	333	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	95						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CCATCTTGCTCCTGAGCATCT	0.602000														28			12		0	0	0.00188189	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					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)				CCATTGCTGGGAAGTTTGATG	0.647000														53			13		0	0	0.00185496	0	0
SV2A	9900	broad.mit.edu	37	1	149885275	149885275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149885275C>T	uc001etg.3	-	1	609	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SV2A_uc001eth.2_Missense_Mutation_p.E40K	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	40	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(2)		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)	CGGGAATATTCGTCCTGGACT	0.537000														119			19		0	0	0.000958276	0	0
PLCB2	5330	broad.mit.edu	37	15	40589053	40589053	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:40589053G>A	uc001zld.3	-	13	1681	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	PLCB2_uc010bbo.3_Silent_p.I460I|PLCB2_uc010ucm.2_Silent_p.I460I	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	460	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			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)		TCTTGTTCTTGATGAGGATCT	0.582000														23			30		0	0	0.0024448	0	0
PSG5	5673	broad.mit.edu	37	19	43679400	43679400	+	Missense_Mutation	SNP	C	T	T	rs138033994		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:43679400C>T	uc002ovu.3	-	3	1062	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E311K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	311	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTGGAGCTTTCCTTGCCAGTA	0.463000														150			171		0	0	0.000781405	0	0
RNF220	55182	broad.mit.edu	37	1	44878091	44878091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:44878091C>T	uc001clv.1	+	1	682	c.322C>T	c.(322-324)Cca>Tca	p.P108S	RNF220_uc001clw.1_Missense_Mutation_p.P108S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	108					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGATTGCACCCCAATCAGTAT	0.567000														119			45		0	0	0.0025221	0	0
ANO5	203859	broad.mit.edu	37	11	22276938	22276938	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:22276938G>A	uc001mqi.2	+	12	1519	c.1202G>A	c.(1201-1203)tGg>tAg	p.W401*	ANO5_uc001mqj.2_Nonsense_Mutation_p.W400*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	401						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						TTGGAGTTTTGGAAACAACGA	0.338000														33			25		0	0	0.000720815	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675916	116675916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:116675916C>T	uc001egc.1	+	6	1284	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	340										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGCACCAACCCGACTGAACTG	0.587000														113			17		0	0	0.00229938	0	0
KIAA1244	57221	broad.mit.edu	37	6	138619790	138619790	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:138619790C>T	uc003qhu.3	+	21	3867	c.3696C>T	c.(3694-3696)ttC>ttT	p.F1232F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1232					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.A1231V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGTTTCCTTCATCCATGACA	0.478000														12			7		0	0	0.000157383	0	0
CSMD1	64478	broad.mit.edu	37	8	3076893	3076893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:3076893C>T	uc022aqr.1	-	28	4946	c.4556G>A	c.(4555-4557)gGg>gAg	p.G1519E	CSMD1_uc011kwj.2_Missense_Mutation_p.G912E|CSMD1_uc003wqe.3_Missense_Mutation_p.G676E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1520	CUB 9.					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)		CTGGTAACTCCCAATGAGGGG	0.478000														7			15		0	0	0.000566183	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138962	126138962	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:126138962G>A	uc001uhe.1	+	8	2951	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	TMEM132B_uc001uhf.1_Silent_p.R493R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	981						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGAGGAGAGGAACTTCCTTC	0.438000														20			11		0	0	0.000673444	0	0
CELA2B	51032	broad.mit.edu	37	1	15808762	15808762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:15808762C>T	uc001awl.3	+	3	255	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	77	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCTCCCAGCTCCTCCGGGATC	0.577000														54			23		0	0	0.000586117	0	0
SYT17	51760	broad.mit.edu	37	16	19236082	19236082	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:19236082A>G	uc002dfw.3	+	6	1481	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	SYT17_uc002dfx.3_Missense_Mutation_p.I323V|SYT17_uc002dfy.3_Missense_Mutation_p.I380V	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	384	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AAGGGGCACAATTGATCCTTT	0.433000														60			28		0	0	0.00127121	0	0
RIPK4	54101	broad.mit.edu	37	21	43164098	43164098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:43164098G>A	uc002yzn.1	-	6	1187	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	380						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGAGAAGGCGGAGTCCAC	0.647000														41			20		0	0	0.00121646	0	0
NEURL	9148	broad.mit.edu	37	10	105330650	105330650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105330650C>T	uc001kxh.3	+	1	517	c.107C>T	c.(106-108)cCc>cTc	p.P36L	NEURL_uc021pxn.1_Missense_Mutation_p.P19L	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	36					nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.P36T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGCCCCTTCCCCGTCACTTCT	0.652000														56			44		0	0	0.000781405	0	0
BRWD1	54014	broad.mit.edu	37	21	40571405	40571405	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:40571405A>G	uc002yxk.2	-	39	5232	c.4937T>C	c.(4936-4938)gTa>gCa	p.V1646A	BRWD1_uc010goc.1_Missense_Mutation_p.V289A|BRWD1_uc021wjf.1_Missense_Mutation_p.V1646A	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTCTCTTCTACATCACTCAT	0.408000											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		71			20		0	0	0.00121646	0	0
CR1	1378	broad.mit.edu	37	1	207741198	207741198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207741198C>T	uc001hfy.3	+	16	2772	c.2632C>T	c.(2632-2634)Cct>Tct	p.P878S	CR1_uc009xcl.1_Missense_Mutation_p.P428S|CR1_uc001hfx.3_Missense_Mutation_p.P1328S|CR1_uc021pij.1_Missense_Mutation_p.P878S|CR1_uc009xck.1_Missense_Mutation_p.P428S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	878	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.S878G(1)		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						TCCAGTTATTCCTAATGGGAG	0.443000														104			47		0	0	0.000781405	0	0
C12orf63	374467	broad.mit.edu	37	12	97137855	97137855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:97137855C>T	uc021rcc.1	+	21	2968	c.2890C>T	c.(2890-2892)Cca>Tca	p.P964S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	964										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						ATATGCAAATCCATTACAGCC	0.299000														18			12		0	0	0.000978159	0	0
KCNG2	26251	broad.mit.edu	37	18	77624240	77624240	+	Silent	SNP	C	T	T	rs140218057	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:77624240C>T	uc010xfl.2	+	0	573	c.573C>T	c.(571-573)gcC>gcT	p.A191A		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	191					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)		CCGTCACGGCCGTGGGCCTCT	0.771000														43			9		0	0	0.000978159	0	0
SALL3	27164	broad.mit.edu	37	18	76754633	76754633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76754633C>T	uc002lmt.3	+	1	2642	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	SALL3_uc010dra.3_Missense_Mutation_p.S488L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GACTCCTCGTCGGCCGTGGGC	0.692000														29			41		0	0	0.0025221	0	0
LONP2	83752	broad.mit.edu	37	16	48337130	48337130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48337130C>T	uc002efi.1	+	10	1798	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.A526V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	570					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTTGGGGCCATTTGCCGA	0.438000														54			24		0	0	0.000720815	0	0
TRIM58	25893	broad.mit.edu	37	1	248039361	248039361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248039361G>A	uc001ido.3	+	5	1079	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	344	B30.2/SPRY.					intracellular	zinc ion binding	p.S343L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATCAGGGAGGCATTAC	0.562000														57			14		0	0	0.00185496	0	0
PTPN3	5774	broad.mit.edu	37	9	112151520	112151520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:112151520C>T	uc004bed.2	-	21	2358	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	PTPN3_uc004beb.2_Missense_Mutation_p.R618Q|PTPN3_uc004bec.2_Missense_Mutation_p.R573Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R704Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R595Q|PTPN3_uc011lwd.1_Missense_Mutation_p.R217Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R462Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R417Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	749	Tyrosine-protein phosphatase.				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						TACCCGCCCTCGTTCTGTGAG	0.512000														30			13		0	0	0.00244969	0	0
ZNF512B	57473	broad.mit.edu	37	20	62599259	62599259	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62599259G>A	uc002yhl.1	-	1	99	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S15T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CACTCTTGCTGGACCCCGGGA	0.597000														45			47		0	0	0.000781405	0	0
FAM75C1	441452	broad.mit.edu	37	9	90534241	90534241	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90534241G>A	uc010mqi.3	+	1	290	c.261G>A	c.(259-261)agG>agA	p.R87R	FAM75C1_uc004apq.4_Silent_p.R70R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCAGAGGCAGGATGAAAAACC	0.542000														126			20		0	0	0.000878237	0	0
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:31573079C>T	uc002rnv.1	-	24	2721	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	881					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	p.R881Q(2)		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)	GAATAAAGCTCGTTCCATAAT	0.498000														70			23		0	0	0.00278032	0	0
POTEF	728378	broad.mit.edu	37	2	130872850	130872850	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:130872850G>A	uc010fmh.2	-	3	973	c.573C>T	c.(571-573)ctC>ctT	p.L191L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	191						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						TGTCCAGCAGGAGTTTTACTA	0.433000														40			31		0	0	0.000781405	0	0
MRPL45	84311	broad.mit.edu	37	17	36478092	36478092	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:36478092C>T	uc002hpy.3	+	6	905	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	248					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATGTTGTATTCGAAAAGCAGT	0.502000														90			30		0	0	0.001512	0	0
C6	729	broad.mit.edu	37	5	41153961	41153961	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41153961C>T	uc003jmk.2	-	14	2451	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	C6_uc003jml.1_Silent_p.Q747Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	747	C5b-binding domain.|Sushi 2.				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)				AGGAATTCCCCTGGCATGTGT	0.473000														14			4		0	0	0.00116845	0	0
STEAP4	79689	broad.mit.edu	37	7	87910343	87910343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:87910343C>T	uc022agz.1	-	4	1259	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	STEAP4_uc003ujs.3_Missense_Mutation_p.D346N|STEAP4_uc010lek.3_Missense_Mutation_p.D170N	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	346	Ferric oxidoreductase.				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			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACATATGAATCACTGAGCCAG	0.378000														32			10		0	0	0.000442599	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997754	38997754	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:38997754T>G	uc011aej.1	-	3	1032	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	KCNJ6_uc002ywo.2_Missense_Mutation_p.T327P	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	327					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATCTCACTGGTGATGTAGGAG	0.517000														42			10		0	0	0.000673444	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906280	56906280	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:56906280C>T	uc002ekd.4	+	6	899	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC12A3_uc010ccm.3_Silent_p.F290F|SLC12A3_uc010ccn.3_Silent_p.F289F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	290					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGCTGTTCTTCCTTGTCATCA	0.552000														43			8		0	0	0.000274275	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366796	23366796	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:23366796G>A	uc002dln.3	+	3	938	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	254					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)	TCGGAGCTGAGCCCTGCAACT	0.627000														27			12		0	0	0.00185496	0	0
CCDC147	159686	broad.mit.edu	37	10	106163596	106163596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:106163596G>A	uc001kyh.3	+	13	2283	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	717										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)		GAGGAAGCTCGAGGTAACATC	0.507000														4			3		0	0	6.4e-05	0	0
ABCC3	8714	broad.mit.edu	37	17	48746588	48746588	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48746588G>A	uc002isl.3	+	15	2105	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	675	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGCCCTGCTGGGAGAGATGG	0.652000														22			24		0	0	0.00047179	0	0
CCDC170	80129	broad.mit.edu	37	6	151869468	151869468	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:151869468C>T	uc003qol.3	+	4	707	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	206																	AAAATGAATTCGTGAAAGGAC	0.368000														22			8		0	0	0.000274275	0	0
SP140	11262	broad.mit.edu	37	2	231152662	231152662	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231152662G>A	uc002vql.3	+	17	1816	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.Q453Q|SP140_uc002vqm.3_Silent_p.Q507Q|SP140_uc010fxl.3_Silent_p.Q540Q	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	567					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGCTGCACAGAAAAGAGTCC	0.393000														23			6		0	0	0.000157383	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769554	15769554	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15769554C>T	uc010xok.2	+	11	1382	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	CYP4F3_uc010xol.2_Silent_p.R444R|CYP4F3_uc002nbj.3_Silent_p.R444R|CYP4F3_uc010xom.2_Silent_p.R295R|CYP4F3_uc002nbk.3_Silent_p.R444R|CYP4F3_uc010xon.2_Silent_p.R154R	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	444					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						ACCCCTTTCGCTTTGACCCAA	0.592000														93			36		0	0	0.00111076	0	0
ZNF202	7753	broad.mit.edu	37	11	123597480	123597480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:123597480G>A	uc001pzd.1	-	8	1572	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	ZNF202_uc001pzc.1_Missense_Mutation_p.P167L|ZNF202_uc001pze.1_Missense_Mutation_p.P391L|ZNF202_uc001pzf.1_Missense_Mutation_p.P391L	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	391					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTAACAGGGGGTGGACGGG	0.448000														20			28		0	0	0.000720815	0	0
DNAH17	8632	broad.mit.edu	37	17	76471856	76471856	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76471856C>T	uc010dhp.2	-	52	8339	c.8214G>A	c.(8212-8214)ggG>ggA	p.G2738G	DNAH17_uc002jvs.3_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)			GATCGCCAATCCCTTGAGCAA	0.438000														40			26		0	0	0.001512	0	0
THEMIS	387357	broad.mit.edu	37	6	128134744	128134744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128134744C>T	uc011ebt.2	-	3	1191	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	THEMIS_uc010kfa.3_Missense_Mutation_p.E251K|THEMIS_uc021zfa.1_Missense_Mutation_p.E348K|THEMIS_uc010kfb.3_Missense_Mutation_p.E313K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	348	CABIT 2.				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						GTTGGGAACTCCCTCGGTCGC	0.478000														22			17		0	0	0.00074312	0	0
SYNE1	23345	broad.mit.edu	37	6	152553250	152553250	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152553250C>T	uc021zhb.1	-	111	21085	c.20862_splice	c.e111+1	p.K6954_splice	SYNE1_uc003qos.4_Splice_Site_p.K1478_splice|SYNE1_uc003qot.4_Splice_Site_p.K6883_splice|SYNE1_uc003qou.4_Splice_Site_p.K6954_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6954					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)		ATTTTAATTACCTTATATTTC	0.249000										HNSCC(10;0.0054)				25			8		0	0	0.000673444	0	0
DPP10	57628	broad.mit.edu	37	2	116485423	116485423	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:116485423A>C	uc002tle.3	+	7	641	c.620A>C	c.(619-621)cAa>cCa	p.Q207P	DPP10_uc002tla.2_Missense_Mutation_p.Q203P|DPP10_uc002tlb.2_Missense_Mutation_p.Q153P|DPP10_uc002tlc.2_Missense_Mutation_p.Q199P|DPP10_uc002tlf.2_Missense_Mutation_p.Q196P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	203					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						ATCTACTATCAACCTGATATA	0.308000														15			12		0	0	0.000978159	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259569	42259569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42259569C>T	uc002orm.2	+	0	172	c.23C>T	c.(22-24)cCc>cTc	p.P8L		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	8					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCAGCCCCTCCCTGCAGATTG	0.607000														61			22		0	0	0.00047179	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841430	8841430	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8841430C>T	uc010xkg.2	+	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	14					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						AGACTTCATTCTGGTGGGCCT	0.512000														39			6		0	0	0.00116845	0	0
TCRA	0	broad.mit.edu	37	14	22636363	22636363	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22636363G>T	uc001wdi.2	+	0	71	c.39G>T	c.(37-39)ttG>ttT	p.L13F	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_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		GCACCTTGTTGTGGCAGTTGA	0.473000														122			48		3.85841e-42	1.41726e-41	0.000781405	1	0
MYO18B	84700	broad.mit.edu	37	22	26422532	26422532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26422532C>T	uc003abz.1	+	42	6842	c.6592C>T	c.(6592-6594)Cgc>Tgc	p.R2198C	MYO18B_uc003aca.1_Missense_Mutation_p.R2079C|MYO18B_uc010guy.1_Missense_Mutation_p.R2080C|MYO18B_uc010guz.1_Missense_Mutation_p.R2078C|MYO18B_uc011aka.1_Missense_Mutation_p.R1352C|MYO18B_uc011akb.1_Missense_Mutation_p.R1711C|MYO18B_uc010gva.1_Missense_Mutation_p.R181C|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2198						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						CCACTTTGTCCGCCGGCAAAA	0.567000														135			17		0	0	0.000958276	0	0
NPTX1	4884	broad.mit.edu	37	17	78445638	78445638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:78445638C>T	uc002jyp.1	-	3	1129	c.971G>A	c.(970-972)gGg>gAg	p.G324E		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	324	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CTCCCAGACCCCGTCCCGGGT	0.627000														40			7		0	0	0.00198382	0	0
NDST4	64579	broad.mit.edu	37	4	115767138	115767138	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:115767138G>A	uc003ibu.3	-	9	2635	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	652	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			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)		ATGGTGTAGGGAAAAAGTCCA	0.358000														16			27		0	0	0.00106085	0	0
DLG2	1740	broad.mit.edu	37	11	83344302	83344302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:83344302G>A	uc001paj.2	-	13	1880	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	DLG2_uc001pai.2_Missense_Mutation_p.S423F|DLG2_uc010rsy.1_Missense_Mutation_p.S493F|DLG2_uc021qof.1_Missense_Mutation_p.S565F|DLG2_uc010rsz.1_Missense_Mutation_p.S526F|DLG2_uc010rta.1_Missense_Mutation_p.S526F|DLG2_uc001pak.2_Missense_Mutation_p.S631F|DLG2_uc010rtb.1_Missense_Mutation_p.S493F|DLG2_uc001pal.1_Missense_Mutation_p.S526F|DLG2_uc010rsx.1_Missense_Mutation_p.S7F|DLG2_uc010rsw.1_Missense_Mutation_p.S8F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	526						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)				TCCGGACCCGGAGCTCATGCT	0.473000														13			7		0	0	0.000442599	0	0
MLLT4	4301	broad.mit.edu	37	6	168352394	168352394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:168352394C>T	uc021zik.1	+	28	4535	c.4216C>T	c.(4216-4218)Cag>Tag	p.Q1406*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.Q1431*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.Q1447*|MLLT4_uc021zij.1_Nonsense_Mutation_p.Q1430*|MLLT4_uc021zim.1_Nonsense_Mutation_p.Q993*|MLLT4_uc003qwg.1_Nonsense_Mutation_p.Q756*	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1447					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577000			T	MLL	AL									40			37		0	0	0.00222228	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676029	73676029	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:73676029C>T	uc001ouo.3	+	3	1192	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	147					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TCTACCTGTCCCTGGAGGACT	0.537000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			12		0	0	0.000978159	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139599	3139599	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:3139599C>T	uc002ctv.1	-	4	1759	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	ZSCAN10_uc002cty.1_Silent_p.G218G|ZSCAN10_uc002ctw.1_Silent_p.G475G|ZSCAN10_uc002ctx.1_Silent_p.G485G	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	557					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						CGAAACTCTTCCCGCACTGGG	0.711000														9			6		0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13920608C>A	uc003jfd.2	-	5	821	c.779G>T	c.(778-780)tGg>tTg	p.W260L	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	260	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)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome					94			27		7.07758e-08	2.58015e-07	0.000720815	1	0
PDE1C	5137	broad.mit.edu	37	7	31918629	31918629	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:31918629C>T	uc003tcm.2	-	3	866	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PDE1C_uc003tcn.1_Silent_p.Q135Q|PDE1C_uc003tco.2_Silent_p.Q195Q|PDE1C_uc003tcr.3_Silent_p.Q135Q|PDE1C_uc003tcs.3_Silent_p.Q135Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	135					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)			ATATCCCAGCCTGCACTGCGT	0.507000														77			11		0	0	0.00244969	0	0
SEZ6L	23544	broad.mit.edu	37	22	26693009	26693009	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26693009G>A	uc003acb.3	+	3	1321	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	SEZ6L_uc003acd.3_Silent_p.Q375Q|SEZ6L_uc011akd.2_Silent_p.Q375Q|SEZ6L_uc003ace.3_Silent_p.Q375Q|SEZ6L_uc011akc.2_Silent_p.Q375Q|SEZ6L_uc003acc.3_Silent_p.Q375Q|SEZ6L_uc003acf.1_Silent_p.Q148Q|SEZ6L_uc010gvc.1_Silent_p.Q148Q	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	375	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						GGACCTTCCAGGACGACGGCC	0.592000														51			9		0	0	0.000673444	0	0
ARMC4	55130	broad.mit.edu	37	10	28151526	28151526	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:28151526A>T	uc009xky.3	-	17	2734	c.2636T>A	c.(2635-2637)tTt>tAt	p.F879Y	ARMC4_uc010qds.2_Missense_Mutation_p.F404Y|ARMC4_uc010qdt.2_Missense_Mutation_p.F571Y|ARMC4_uc001itz.3_Missense_Mutation_p.F879Y	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	879							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCACCAACAAAGGAACGAAC	0.348000														10			9		0	0	0.000442599	0	0
SOGA3	387104	broad.mit.edu	37	6	127837547	127837547	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:127837547C>T	uc003qbd.3	-	1	1078	c.213G>A	c.(211-213)cgG>cgA	p.R71R		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	71						integral to membrane											gctgctgctgcCGAACAGAAT	0.672000														14			18		0	0	0.00152264	0	0
TDRD6	221400	broad.mit.edu	37	6	46657589	46657589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:46657589C>T	uc003oyj.3	+	0	1978	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	TDRD6_uc010jze.3_Missense_Mutation_p.S575L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	575	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGAGGCAATTCGGAAAATGTG	0.443000														59			29		0	0	0.001512	0	0
CEP112	201134	broad.mit.edu	37	17	64171218	64171218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:64171218C>T	uc002jfl.3	-	3	633	c.414G>A	c.(412-414)tgG>tgA	p.W138*	CEP112_uc002jfm.3_Nonsense_Mutation_p.W138*|CEP112_uc010dep.2_Nonsense_Mutation_p.W138*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	138						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AAGAGAGTTTCCATGATTCAT	0.418000														102			22		0	0	0.000586117	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824695	96824695	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96824695G>A	uc001kkb.3	-	3	599	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP2C8_uc010qoa.2_Silent_p.F98F|CYP2C8_uc010qoc.2_Silent_p.F66F|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.F82F|CYP2C8_uc021pwl.1_Silent_p.F98F|CYP2C8_uc010qod.1_Silent_p.F82F	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	168					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)	AGCCCAGGATGAAAGTGGGAT	0.313000														33			12		0	0	0.00185496	0	0
WARS	7453	broad.mit.edu	37	14	100820169	100820169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:100820169G>A	uc001yhh.1	-	5	961	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	WARS_uc001yhi.1_Nonsense_Mutation_p.Q153*|WARS_uc001yhg.2_Nonsense_Mutation_p.Q194*|WARS_uc001yhl.1_Nonsense_Mutation_p.Q194*|WARS_uc001yhk.1_Nonsense_Mutation_p.Q153*	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	194					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCCGTCATCTGGATGACCAAG	0.537000														69			28		0	0	0.00178596	0	0
ANKK1	255239	broad.mit.edu	37	11	113270750	113270750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:113270750G>A	uc001pny.3	+	7	2153	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	687							ATP binding|protein serine/threonine kinase activity	p.A687A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAATGTCCACGCCCGCAACAA	0.632000														14			17		0	0	0.000958276	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453565	84453565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:84453565G>A	uc001vlk.3	-	0	2964	c.2078C>T	c.(2077-2079)tCg>tTg	p.S693L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	693						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)		GTCTGAGAGCGAGTGAGAGCC	0.587000														22			11		0	0	0.000978159	0	0
DSG2	1829	broad.mit.edu	37	18	29116202	29116202	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29116202C>T	uc002kwu.4	+	10	1649	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	487	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGTCCTTATCAATGTTGAAG	0.403000														47			36		0	0	0.00222228	0	0
PHKA2	5256	broad.mit.edu	37	X	18942232	18942232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:18942232G>A	uc004cyv.4	-	16	2165	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	PHKA2_uc010nfg.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	579					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)					ACAGCAGAATGAATGTCTGAG	0.358000														55			44		0	0	0.000680045	0	0
HMG20B	10362	broad.mit.edu	37	19	3574509	3574509	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:3574509C>T	uc002lya.3	+	3	344	c.276C>T	c.(274-276)caC>caT	p.H92H	HMG20B_uc010dtm.1_3'UTR|HMG20B_uc002lyb.3_5'UTR|HMG20B_uc010xhn.1_Silent_p.H92H	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	92					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGCGCCACCCGGATCTGC	0.667000														5			7		0	0	0.000442599	0	0
NEK5	341676	broad.mit.edu	37	13	52676396	52676396	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52676396C>T	uc001vge.3	-	9	782	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	214	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GACAAATCTTCAGAACCAGCT	0.403000														69			47		0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019004	14019004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:14019004C>T	uc001rbt.2	-	1	318	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	47					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.E47K(2)|p.D46N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGCCACCTCGTCGGAAGTG	0.587000														53			9		0	0	0.000274275	0	0
TUB	7275	broad.mit.edu	37	11	8118838	8118838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:8118838C>T	uc001mga.3	+	6	900	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F	TUB_uc010rbk.2_Missense_Mutation_p.L257F|TUB_uc001mfy.3_Missense_Mutation_p.L306F	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	251					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGTCCAGGATCTTGAGGAGTT	0.597000														30			22		0	0	0.00188189	0	0
PCNT	5116	broad.mit.edu	37	21	47831639	47831640	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:47831639_47831640GG>AA	uc002zji.4	+	27	5759_5760	c.5652_5653GG>AA	c.(5650-5655)aaggcg>aaAAcg	p.A1885T	PCNT_uc002zjj.3_Missense_Mutation_p.A1767T	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1885					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGCGGAAGGCGGCCCACTC	0.663000														40			10		0	0	6.4e-05	0	0
ITGA1	3672	broad.mit.edu	37	5	52161619	52161619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52161619G>A	uc003jou.3	+	5	1006	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	198	VWFA.			E -> K (in Ref. 3).	axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACCTTCTTGAAAGAATGGA	0.358000														21			36		0	0	0.00058488	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619845	28619845	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28619845G>A	uc002dqn.3	-	5	1093	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.F76F|SULT1A1_uc002dqi.3_Silent_p.F76F|SULT1A1_uc002dqk.3_Silent_p.F76F|SULT1A1_uc002dql.3_Silent_p.F76F|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.F76F	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	76					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCACCCGCATGAAGATGGGAG	0.592000														13			31		0	0	0.00283554	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218946	134218946	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134218946C>T	uc001lll.4	+	1	971	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PWWP2B_uc009ybe.3_Silent_p.P314P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	314										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCTCCATCCCCAAGTTGAAAC	0.731000														33			6		0	0	0.00198382	0	0
ITGA1	3672	broad.mit.edu	37	5	52240865	52240865	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52240865G>A	uc003jou.3	+	27	3792	c.3378_splice	c.e27+1	p.E1126_splice	ITGA1_uc003jov.3_Splice_Site|ITGA1_uc003jow.3_Splice_Site_p.E657_splice	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1126					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAAAAAGAGAGGTAAGTGCAA	0.338000														118			47		0	0	0.000781405	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531921	31531921	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31531921A>C	uc003aka.3	-	7	1446	c.1317_splice	c.e7-1	p.N439_splice		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	439					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCTGGAACAGCTGTAAGGA	0.602000														75			9		0	0	0.000442599	0	0
PAPPA	5069	broad.mit.edu	37	9	118950233	118950233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:118950233C>T	uc004bjn.3	+	1	1597	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	PAPPA_uc011lxp.1_Missense_Mutation_p.R199C|PAPPA_uc011lxq.2_Missense_Mutation_p.R199C	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	406	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						CTCCTCCCTTCGCCGCCGCCT	0.612000														51			32		0	0	0.000953801	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139395	142139395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142139395G>A	uc003vyt.3	-	1	275	c.230C>T	c.(229-231)tCa>tTa	p.S77L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCAGCCCTGATTTGTCTTG	0.552000														38			69		0	0	0.000781405	0	0
DOK6	220164	broad.mit.edu	37	18	67344984	67344984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:67344984G>A	uc002lkl.3	+	3	501	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	102	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGGCCGAGGAGTGGTGCAA	0.532000														119			21		0	0	0.00152264	0	0
AGAP11	119385	broad.mit.edu	37	10	88769434	88769434	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:88769434C>T	uc001kee.2	+	11	2629	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	475					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACATGGCTCCCGTGAGGAGG	0.672000														64			38		0	0	0.00195071	0	0
CUX2	23316	broad.mit.edu	37	12	111748223	111748223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:111748223C>T	uc001tsa.2	+	14	1791	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	546						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						GCGGCGGGGCCCGGGGCAGAG	0.711000														15			6		0	0	0.000157383	0	0
SULF2	55959	broad.mit.edu	37	20	46313184	46313184	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:46313184G>A	uc002xto.3	-	5	1209	c.879C>T	c.(877-879)tcC>tcT	p.S293S	SULF2_uc002xtr.3_Silent_p.S293S|SULF2_uc002xtq.3_Silent_p.S293S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	293					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)|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						CCGTCTCCATGGAGTCGTCCA	0.637000														8			22		0	0	0.000878237	0	0
MET	4233	broad.mit.edu	37	7	116339428	116339428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:116339428C>T	uc003vij.3	+	1	477	c.290C>T	c.(289-291)cCa>cTa	p.P97L	MET_uc022akk.1_Missense_Mutation_p.P97L|MET_uc010lkh.3_Missense_Mutation_p.P97L|MET_uc011knc.1_Missense_Mutation_p.P97L|MET_uc011knd.2_Missense_Mutation_p.P97L|MET_uc011knf.2_Missense_Mutation_p.P97L|MET_uc011kne.2_Missense_Mutation_p.P97L|MET_uc011kng.1_Missense_Mutation_p.P97L|MET_uc011knh.1_Missense_Mutation_p.P97L|MET_uc011kni.2_Missense_Mutation_p.P97L|MET_uc003vii.1_Missense_Mutation_p.P116L|MET_uc010lkg.3_Missense_Mutation_p.P97L|MET_uc011kmz.1_Missense_Mutation_p.P97L|MET_uc011kna.1_Missense_Mutation_p.P97L|MET_uc011knb.1_Missense_Mutation_p.P97L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	97	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GATTGTTTCCCATGTCAGGAC	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					49			12		0	0	0.000978159	0	0
KAT6B	23522	broad.mit.edu	37	10	76784832	76784832	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:76784832A>C	uc001jwn.1	+	16	3982	c.3489A>C	c.(3487-3489)tcA>tcC	p.S1163S	KAT6B_uc001jwo.1_Silent_p.S871S|KAT6B_uc001jwp.1_Silent_p.S980S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1163					histone H3 acetylation|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 factor binding|zinc ion binding										TTGACAACTCAGATGAAGAGA	0.493000														24			16		0	0	0.000566183	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236042	33236042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:33236042C>T	uc001bvu.1	+	5	1306	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S373F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S362F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	362	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACTCTCAATCCTCCGACACC	0.647000														16			12		0	0	0.00185496	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154433	248154433	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248154433C>T	uc001idv.1	+	0	865	c.621C>T	c.(619-621)atC>atT	p.I207I	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ACCCCATCATCTACAGCCTGA	0.473000														47			16		0	0	0.00188189	0	0
NBPF10	100132406	broad.mit.edu	37	1	145281368	145281368	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145281368G>T	uc021ouk.1	+	4	669	c.-529_splice	c.e4-1		NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emn.4_Splice_Site_p.G100_splice|NOTCH2NL_uc001emm.4_Splice_Site_p.G100_splice|NOTCH2NL_uc001emo.2_Splice_Site_p.G100_splice|NBPF10_uc010oyh.1_Splice_Site	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTTCCTTTAGGTAAGGAGTG	0.507000														893			18		0.00121646	0.00439994	0.00121646	1	0
KCNIP4	80333	broad.mit.edu	37	4	20884328	20884328	+	Silent	SNP	G	A	A	rs147165653		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:20884328G>A	uc021xmt.1	-	1	186	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KCNIP4_uc003gqe.2_Intron|KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc021xmu.1_Intron|KCNIP4_uc021xms.1_5'UTR	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	22	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	p.L21F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAGCGTACAGGAAACCTAGAA	0.507000														23			7		0	0	0.00198382	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840728	1840728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:1840728G>A	uc002ftp.3	-	1	407	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	130					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TAGAGGTAGAGGGCGTGAAGC	0.652000														32			18		0	0	0.000958276	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669029	64669029	+	Missense_Mutation	SNP	A	T	T	rs11554309		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:64669029A>T	uc002ank.3	-	2	335	c.203T>A	c.(202-204)tTc>tAc	p.F68Y	KIAA0101_uc002anl.3_Intron	NM_014736	NP_055551	Q15004	PAF_HUMAN	Homo sapiens KIAA0101 (KIAA0101), transcript variant 1, mRNA.	68						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAACCTAAAGAATTCTCCAAT	0.403000														32			7		0	0	0.000274275	0	0
ARID5B	84159	broad.mit.edu	37	10	63759869	63759869	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:63759869G>A	uc001jlt.2	+	3	978	c.522G>A	c.(520-522)acG>acA	p.T174T	ARID5B_uc010qil.2_Silent_p.T174T	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	174					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGAAGAAACGAACGTGATAG	0.468000														8			15		0	0	0.000308642	0	0
SCN10A	6336	broad.mit.edu	37	3	38753783	38753784	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38753783_38753784GG>AA	uc003ciq.3	-	21	3957_3958	c.3957_3958CC>TT	c.(3955-3960)tccctt>tcTTtt	p.L1320F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1320					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)	AAAGGTACAAGGGAAAACTCTC	0.446000														100			29		0	0	6.4e-05	0	0
POU4F2	5458	broad.mit.edu	37	4	147561842	147561842	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:147561842C>A	uc003ikv.3	+	1	1360	c.1112C>A	c.(1111-1113)tCc>tAc	p.S371Y		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	371					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			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)					CCTCGGCCCTCCTCTGAAAAG	0.562000														59			30		2.80507e-11	1.02406e-10	0.0024448	1	0
NME8	51314	broad.mit.edu	37	7	37916489	37916489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:37916489G>A	uc003tfn.3	+	11	1246	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	292					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.D292N(1)									CATTGAAGAGGATGCAGCTAA	0.323000														56			10		0	0	0.000673444	0	0
MEIS3	56917	broad.mit.edu	37	19	47920552	47920552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47920552C>T	uc002pgq.3	-	1	377	c.311G>A	c.(310-312)aGc>aAc	p.S104N	MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.S23N|MEIS3_uc002pgt.3_Missense_Mutation_p.S23N|MEIS3_uc010eld.3_Missense_Mutation_p.S23N|MEIS3_uc002pgw.3_Missense_Mutation_p.A136T	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	23						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCTGGGAAGCTAGCCAGGGC	0.687000														75			15		0	0	0.000566183	0	0
SYT6	148281	broad.mit.edu	37	1	114641753	114641753	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:114641753G>A	uc021osa.1	-	4	1405	c.1327C>T	c.(1327-1329)Caa>Taa	p.Q443*	SYT6_uc021orz.1_Nonsense_Mutation_p.Q358*|SYT6_uc001eev.3_Nonsense_Mutation_p.Q358*|SYT6_uc001eeu.3_Nonsense_Mutation_p.Q3*	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	443	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		AGGCTGACTTGATCCATGTTT	0.493000														194			38		0	0	0.000680045	0	0
RNF17	56163	broad.mit.edu	37	13	25356014	25356014	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25356014G>A	uc001upr.3	+	5	584	c.543G>A	c.(541-543)gaG>gaA	p.E181E	RNF17_uc010tdd.1_Silent_p.E40E|RNF17_uc010tde.2_Silent_p.E181E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.E120E|RNF17_uc001upq.1_Silent_p.E181E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	181					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E181K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACGATAGAGGAAAGAGAAA	0.308000														12			10		0	0	0.00185496	0	0
SEC61A2	55176	broad.mit.edu	37	10	12200044	12200045	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:12200044_12200045CC>AA	uc001ile.2	+	8	1062_1063	c.915_916CC>AA	c.(913-918)tcccag>tcAAag	p.Q306K	SEC61A2_uc010qbq.1_Missense_Mutation_p.Q284K|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.Q306K	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	306						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ATGTTATTTCCCAGATGCTGTC	0.416000														306			8		0	0	6.4e-05	0	0
BRDT	676	broad.mit.edu	37	1	92441903	92441903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:92441903G>A	uc001dol.4	+	5	944	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	BRDT_uc010osz.2_Missense_Mutation_p.E180K|BRDT_uc001dok.4_Missense_Mutation_p.E176K|BRDT_uc009wdf.3_Missense_Mutation_p.E103K|BRDT_uc010otb.2_Missense_Mutation_p.E130K|BRDT_uc010ota.2_Missense_Mutation_p.E130K|BRDT_uc001dom.4_Missense_Mutation_p.E176K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.E176*(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAGCAGCAAGAAATTCCTTC	0.413000														41			21		0	0	0.00188189	0	0
PTPRH	5794	broad.mit.edu	37	19	55708578	55708578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55708578C>T	uc002qjq.3	-	8	1970	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PTPRH_uc010esv.3_Missense_Mutation_p.E455K|PTPRH_uc002qjs.2_Missense_Mutation_p.E640K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	633	Fibronectin type-III 7.				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)		TCCAGGGCCTCCACTTTGTAC	0.587000														63			19		0	0	0.000958276	0	0
NOD2	64127	broad.mit.edu	37	16	50756591	50756591	+	Missense_Mutation	SNP	G	A	A	rs75934273		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50756591G>A	uc002egm.1	+	7	2878	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	NOD2_uc010cbl.1_Missense_Mutation_p.D675N|NOD2_uc010cbm.1_Missense_Mutation_p.D675N|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Missense_Mutation_p.D63N|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	925					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	p.G924V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCTTGGGTGATCACCAGAG	0.552000														192			81		0	0	0.000781405	0	0
TMEM156	80008	broad.mit.edu	37	4	39000348	39000348	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:39000348G>A	uc003gto.3	-	1	378	c.270C>T	c.(268-270)atC>atT	p.I90I	TMEM156_uc010ifj.3_Silent_p.I90I	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	90						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTCACCTGTGATGTCTTGGC	0.373000														12			6		0	0	0.00198382	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594480	70594480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:70594480C>T	uc003xyl.3	-	6	2428	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SLCO5A1_uc010lzb.3_Missense_Mutation_p.G519E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G574E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	574	Kazal-like.					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)			GTATGTAATTCCATCTGATCC	0.433000														48			14		0	0	0.000566183	0	0
PTPRH	5794	broad.mit.edu	37	19	55698954	55698954	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55698954G>A	uc002qjq.3	-	13	2566	c.2493C>T	c.(2491-2493)ggC>ggT	p.G831G	PTPRH_uc010esv.3_Silent_p.G653G|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	831	Tyrosine-protein phosphatase.		G -> D (in dbSNP:rs36092369).		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)		ACTGGCTGTGGCCCACCAGGG	0.587000														57			18		0	0	0.00152264	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042686	77042686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:77042686C>T	uc002jwt.3	+	1	581	c.499C>T	c.(499-501)Cct>Tct	p.P167S	C1QTNF1_uc002jwp.3_Missense_Mutation_p.P69S|C1QTNF1_uc002jwq.3_5'UTR|C1QTNF1_uc002jwr.4_Missense_Mutation_p.P79S|C1QTNF1_uc002jws.3_Missense_Mutation_p.P69S	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	69	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCAGGGGCTCCCTGCTTCCCG	0.557000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			40		0	0	0.00148497	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001374	13001374	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:13001374C>T	uc001auq.2	-	2	395	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	103										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTAAATCCAGCACTTGAA	0.478000														241			45		0	0	0.000781405	0	0
STON2	85439	broad.mit.edu	37	14	81862503	81862503	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:81862503G>A	uc010tvu.2	-	1	306	c.108C>T	c.(106-108)ctC>ctT	p.L36L	STON2_uc001xvk.1_Silent_p.L36L|STON2_uc010atc.1_Silent_p.L36L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	36					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACAGTCCTGGGAGGTGCTCTT	0.572000														34			13		0	0	0.000308642	0	0
DHX36	170506	broad.mit.edu	37	3	154007607	154007607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154007607G>A	uc003ezy.4	-	15	1904	c.1823C>T	c.(1822-1824)cCt>cTt	p.P608L	DHX36_uc010hvq.3_Missense_Mutation_p.P594L|DHX36_uc003ezz.4_Missense_Mutation_p.P608L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	608	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAATGACCAGGTTGAACTCT	0.353000														29			12		0	0	0.00244969	0	0
PSG7	5676	broad.mit.edu	37	19	43439693	43439693	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:43439693C>T	uc002ovl.4	-	2	393	c.291_splice	c.e2+1	p.G97_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	97	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TACTGTTTCTCATCCACTGTA	0.418000														188			146		0	0	0.000781405	0	0
SLC9A3	6550	broad.mit.edu	37	5	484715	484715	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:484715G>A	uc003jbe.2	-	4	964	c.852C>T	c.(850-852)atC>atT	p.I284I	SLC9A3_uc011clx.1_Silent_p.I284I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	284						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGGCTCGATGATACGCACAT	0.622000														28			7		0	0	0.000157383	0	0
EPHA7	2045	broad.mit.edu	37	6	93967895	93967895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:93967895C>T	uc003poe.3	-	10	2273	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N	EPHA7_uc003pof.3_Missense_Mutation_p.D673N|EPHA7_uc011eac.2_Missense_Mutation_p.D674N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	678	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACAAAAAGTCTCTCCTTTGT	0.428000														18			9		0	0	0.000442599	0	0
TECTA	7007	broad.mit.edu	37	11	120998562	120998562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120998562C>T	uc010rzo.2	+	7	1876	c.1876C>T	c.(1876-1878)Ccg>Tcg	p.P626S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	626	TIL 1.				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)		CTGCGCCACGCCGTGCACAGA	0.652000														19			22		0	0	0.00152264	0	0
FLG2	388698	broad.mit.edu	37	1	152329818	152329818	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152329818C>T	uc001ezw.4	-	2	517	c.444G>A	c.(442-444)agG>agA	p.R148R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	148	Ser-rich.						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)			TCACAGTTCCCCTTGAGTGCC	0.468000														224			41		0	0	0.0025221	0	0
PREP	5550	broad.mit.edu	37	6	105736770	105736770	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105736770C>T	uc003prc.3	-	11	1551	c.1318_splice	c.e11-1	p.I440_splice		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	440				I -> L (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTAGAAAATCTAGAATATAA	0.338000														20			18		0	0	0.00152264	0	0
SHANK1	50944	broad.mit.edu	37	19	51165595	51165595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51165595G>A	uc002psx.1	-	22	6132	c.6113C>T	c.(6112-6114)tCc>tTc	p.S2038F	SHANK1_uc002psw.1_Missense_Mutation_p.S1422F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2038					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGTTGGGGAGCCACGGAT	0.701000														15			5		0	0	0.00198382	0	0
NTNG1	22854	broad.mit.edu	37	1	108023381	108023382	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:108023381_108023382CC>TT	uc001dvh.4	+	7	2257_2258	c.1539_1540CC>TT	c.(1537-1542)ggccag>ggTTag	p.Q514*	NTNG1_uc001dvc.4_Nonsense_Mutation_p.Q413*|NTNG1_uc010out.2_Nonsense_Mutation_p.Q480*|NTNG1_uc001dvf.4_Nonsense_Mutation_p.Q455*|NTNG1_uc001dvi.3_Missense_Mutation_p.A81V|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Missense_Mutation_p.P76L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	514					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCGACTCTGGCCAGGGCGCGCC	0.708000														23			15		0	0	6.4e-05	0	0
MECP2	4204	broad.mit.edu	37	X	153296706	153296707	+	Missense_Mutation	DNP	GG	AA	AA	rs61749710		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153296706_153296707GG>AA	uc004fjv.2	-	3	798_799	c.572_573CC>TT	c.(571-573)ccc>cTT	p.P191L	MECP2_uc004fjw.2_Missense_Mutation_p.P203L	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	191					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCCCTTTGGGGCGTCCCCG	0.614000														2			86		0	0	6.4e-05	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349480	58349480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:58349480C>T	uc002yau.3	+	6	1576	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	PHACTR3_uc002yat.3_Missense_Mutation_p.S367F|PHACTR3_uc010zzw.2_Missense_Mutation_p.S329F|PHACTR3_uc002yav.3_Missense_Mutation_p.S329F|PHACTR3_uc002yaw.3_Missense_Mutation_p.S329F|PHACTR3_uc002yax.3_Missense_Mutation_p.S259F	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	370						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ATCATAAATTCTGAACTCAAA	0.493000														115			43		0	0	0.00285205	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052318	55052318	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														10			11		0	0	0.00185496	0	0
C3orf64	285203	broad.mit.edu	37	3	69028912	69028912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:69028912C>T	uc003dnl.3	-	15	1646	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	C3orf64_uc003dnj.3_Missense_Mutation_p.R93K|C3orf64_uc003dnk.3_Missense_Mutation_p.R330K|C3orf64_uc011bfw.2_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	414						extracellular region	transferase activity, transferring glycosyl groups	p.D413N(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		GTGTGTGATCCTTAGTTGATC	0.403000														16			25		0	0	0.000586117	0	0
ABCA8	10351	broad.mit.edu	37	17	66937028	66937028	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:66937028A>G	uc002jhq.3	-	3	512	c.172T>C	c.(172-174)Tca>Cca	p.S58P	ABCA8_uc002jhp.3_Missense_Mutation_p.S58P|ABCA8_uc010wqq.2_Missense_Mutation_p.S58P|ABCA8_uc010wqr.2_5'UTR|ABCA8_uc002jhr.3_Missense_Mutation_p.S58P|ABCA8_uc002jhs.3_Missense_Mutation_p.S58P|ABCA8_uc002jht.3_Missense_Mutation_p.S58P	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	58						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)					GTAAGCAGTGAAGAAAAATCA	0.353000														40			5		0	0	0.000602214	0	0
NDUFA9	4704	broad.mit.edu	37	12	4768259	4768259	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:4768259C>T	uc001qnc.3	+	4	497	c.468C>T	c.(466-468)tcC>tcT	p.S156S	NDUFA9_uc009zei.2_Silent_p.S156S|NDUFA9_uc010ses.2_5'UTR	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	156					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTCAACTGTCCAAGGAAGCTG	0.328000														24			21		0	0	0.00229938	0	0
BTNL3	10917	broad.mit.edu	37	5	180432702	180432702	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:180432702C>T	uc003mmr.3	+	7	1415	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	BTNL3_uc010jlp.3_Silent_p.L196L	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	411	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGGGTCTTCCTGGACTATGA	0.478000														27			13		0	0	0.00244969	0	0
ACTG2	72	broad.mit.edu	37	2	74129555	74129555	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:74129555C>T	uc002sjw.3	+	2	317	c.195C>T	c.(193-195)atC>atT	p.I65I	ACTG2_uc010fex.1_Silent_p.I65I|ACTG2_uc010yrn.2_Intron|ACTG2_uc010fey.3_Silent_p.I65I	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	65					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGCGAGGGATCCTAACTCTCA	0.468000														46			9		0	0	0.000274275	0	0
OPRK1	4986	broad.mit.edu	37	8	54163366	54163366	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:54163366A>G	uc003xrh.1	-	0	607	c.232T>C	c.(232-234)Tcg>Ccg	p.S78P	OPRK1_uc022aup.1_5'UTR|OPRK1_uc003xri.1_Missense_Mutation_p.S78P|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	78					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	p.S78T(2)		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)	ATGACCAGCGAGTTGCCCACC	0.692000														21			4		0	0	0.00024832	0	0
ATP12A	479	broad.mit.edu	37	13	25280559	25280559	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25280559C>T	uc010aaa.3	+	14	2478	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	ATP12A_uc001upp.3_Silent_p.S709S	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	709					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCGGACATCCCCCCAGCAGA	0.572000														0			21		0	0	0.00047179	0	0
EPG5	57724	broad.mit.edu	37	18	43524016	43524016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:43524016G>A	uc002lbm.3	-	7	1847	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	EPG5_uc002lbo.1_Missense_Mutation_p.P583S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	583					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						TCATGAAAGGGGAACTGTGCT	0.388000														89			12		0	0	0.00244969	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698566	96698566	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96698566C>T	uc001kka.4	+	0	152	c.127C>T	c.(127-129)Cta>Tta	p.L43L	CYP2C9_uc009xut.3_Silent_p.L43L|CYP2C9_uc001kjz.3_Silent_p.L43L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	43					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)	TGGAAATATCCTACAGATAGG	0.433000														30			18		0	0	0.00152264	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150200	117150200	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:117150200C>T	uc003pxj.1	-	1	1	c.-21_splice	c.e1-1		GPRC6A_uc003pxk.1_Splice_Site|GPRC6A_uc003pxl.1_Splice_Site	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.						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)		TTGCTCAGTTCATGTGAGTTC	0.403000														1			3		0	0	6.4e-05	0	0
CSNK1D	1453	broad.mit.edu	37	17	80210338	80210338	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:80210338G>A	uc002kej.3	-	4	1045	c.708C>T	c.(706-708)ccC>ccT	p.P236P	CSNK1D_uc002kei.3_Silent_p.P236P|CSNK1D_uc010wvj.2_Silent_p.P33P|CSNK1D_uc010dil.3_5'Flank|CSNK1D_uc002keh.3_Silent_p.P101P|CSNK1D_uc010dim.1_Silent_p.P33P	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	236	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ACACTTCGATGGGGGTGGACA	0.537000														203			67		0	0	0.000781405	0	0
PDE6C	5146	broad.mit.edu	37	10	95422929	95422929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95422929G>A	uc001kiu.4	+	20	2650	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	838					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E838K(2)|p.A837A(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)				AGGAGGAGCCGAAAAAGGTTA	0.428000														10			9		0	0	0.000442599	0	0
APOF	319	broad.mit.edu	37	12	56755102	56755102	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56755102G>A	uc001sle.1	-	1	942	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	296					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CTTCTGATATGAAAGAAGCCA	0.473000														51			16		0	0	0.00074312	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20554584C>T	uc002dhj.4	-	12	1492	c.1282_splice	c.e12-1	p.E428_splice	ACSM2B_uc002dhk.4_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice	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.	428					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						TCGGGATTTTCCTGGTGACCA	0.483000														72			27		0	0	0.00106085	0	0
LIN7A	8825	broad.mit.edu	37	12	81239607	81239607	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81239607T>A	uc001szj.1	-	3	578	c.385A>T	c.(385-387)Aat>Tat	p.N129Y	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	129	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATGGGGGAATTTTGCTCCTTT	0.498000														46			15		0	0	0.000308642	0	0
PRX	57716	broad.mit.edu	37	19	40903778	40903778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40903778G>A	uc002onr.3	-	6	750	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	PRX_uc002onq.3_Missense_Mutation_p.P22S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	161	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGAACTTGGGAAAGGAGAAC	0.667000														13			12		0	0	0.000978159	0	0
MRPS9	64965	broad.mit.edu	37	2	105708940	105708940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:105708940C>T	uc002tcn.4	+	7	801	c.733C>T	c.(733-735)Cga>Tga	p.R245*		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	245					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.R245Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGAGGTTTCGAAGAAGTGT	0.393000														63			12		0	0	0.00136819	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887159	128887159	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:128887159T>A	uc004eut.1	+	10	1286	c.1042T>A	c.(1042-1044)Tcc>Acc	p.S348T		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	348					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGACACCTACTCCCCAGTGAT	0.582000														52			35		0	0	0.00222228	0	0
MYH10	4628	broad.mit.edu	37	17	8449957	8449957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:8449957G>A	uc002glm.3	-	11	1279	c.1183C>T	c.(1183-1185)Ctt>Ttt	p.L395F	MYH10_uc002gll.3_Missense_Mutation_p.L385F|MYH10_uc010cnx.3_Missense_Mutation_p.L394F	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	385	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity	p.R394R(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCATCCCAAGAAGATGGCAG	0.438000														22			20		0	0	0.00188189	0	0
KCNH4	23415	broad.mit.edu	37	17	40321537	40321537	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40321537G>A	uc002hzb.2	-	8	1881	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	516					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTGGTCTGGAAGTATTCGA	0.657000														55			19		0	0	0.00278032	0	0
HAPLN4	404037	broad.mit.edu	37	19	19368843	19368843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19368843G>A	uc002nmb.3	-	4	1102	c.992C>T	c.(991-993)cCc>cTc	p.P331L	HAPLN4_uc002nmc.3_Missense_Mutation_p.P331L	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	331	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GTTCACGATGGGGTAGCGCGC	0.721000														3			3		0	0	6.4e-05	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957154	39957154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39957154C>T	uc002olo.4	+	11	1090	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SUPT5H_uc002olp.4_Missense_Mutation_p.S304F|SUPT5H_uc002olq.4_Missense_Mutation_p.S300F|SUPT5H_uc002oln.4_Missense_Mutation_p.S304F|SUPT5H_uc002olr.4_Missense_Mutation_p.S304F|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	304	KOW 1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACACCATCTCCCTGAAGATG	0.617000														46			26		0	0	0.000878237	0	0
WDR19	57728	broad.mit.edu	37	4	39247026	39247026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:39247026C>T	uc003gtv.3	+	23	2837	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S	WDR19_uc011byi.2_Missense_Mutation_p.P735S|WDR19_uc003gtw.1_Missense_Mutation_p.P492S	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	895					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGTTTCTTCTCCTAAGATCCA	0.408000														23			8		0	0	0.000673444	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028624	54028624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:54028624C>T	uc002rxl.3	+	6	896	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Missense_Mutation_p.P206S|ERLEC1_uc002rxn.3_Missense_Mutation_p.P206S	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	206					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACAGAACCGGCCCAGATCAAG	0.368000														50			47		0	0	0.000781405	0	0
OR6C76	390326	broad.mit.edu	37	12	55820232	55820232	+	Silent	SNP	C	T	T	rs139871766	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55820232C>T	uc010spm.2	+	0	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	65					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						GGAATTTCTCCTTGGAAATTT	0.408000														19			39		0	0	0.000953801	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814897	54814897	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:54814897G>A	uc002lgm.3	+	0	605	c.354G>A	c.(352-354)agG>agA	p.R118R						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		GAGTGGACAGGATTAGTTCTC	0.483000														47			11		0	0	0.00185496	0	0
PAPSS2	9060	broad.mit.edu	37	10	89474791	89474791	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:89474791C>A	uc001kex.3	+	5	952	c.689C>A	c.(688-690)cCg>cAg	p.P230Q	PAPSS2_uc001kew.3_Missense_Mutation_p.P230Q|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	230					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTCTTTGTGCCGGAAAACAAA	0.378000														17			12		4.93089e-13	1.80144e-12	0.00244969	1	0
EPB41	2035	broad.mit.edu	37	1	29338416	29338416	+	Missense_Mutation	SNP	C	T	T	rs144897337	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:29338416C>T	uc001brm.2	+	4	953	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	EPB41_uc001brg.2_Missense_Mutation_p.R67C|EPB41_uc001brh.2_Missense_Mutation_p.R67C|EPB41_uc001brj.2_Missense_Mutation_p.R67C|EPB41_uc001bri.2_Missense_Mutation_p.R241C|EPB41_uc009vtk.2_Missense_Mutation_p.R241C|EPB41_uc001brk.3_Missense_Mutation_p.R276C|EPB41_uc001brl.2_Missense_Mutation_p.R276C|EPB41_uc021okg.1_Missense_Mutation_p.R276C|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.R67C	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	276	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAGCAGGTTCGTGGTAAGTG	0.393000														84			50		0	0	0.000781405	0	0
CDK12	51755	broad.mit.edu	37	17	37681082	37681082	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:37681082C>A	uc010cvv.3	+	11	3837	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	CDK12_uc010wef.1_Missense_Mutation_p.P1083Q|CDK12_uc002hrw.4_Missense_Mutation_p.P1084Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1084					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGCAGCCCAGCACCACCT	0.527000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				121			6		0.00116845	0.00422777	0.00116845	1	0
MAPKAPK2	9261	broad.mit.edu	37	1	206905044	206905044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:206905044G>A	uc001hem.2	+	7	1162	c.952G>A	c.(952-954)Gag>Aag	p.E318K	MAPKAPK2_uc001hel.2_Missense_Mutation_p.E318K	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	318	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GACCATCACCGAGTTTATGAA	0.562000														192			46		0	0	0.000781405	0	0
GPX6	257202	broad.mit.edu	37	6	28483479	28483479	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28483479G>A	uc021yrx.1	-	0	92	c.42C>T	c.(40-42)ttC>ttT	p.F14F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	14					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCCAACCAGGAAAAACAGGA	0.547000														27			11		0	0	0.00185496	0	0
CXorf22	170063	broad.mit.edu	37	X	35971789	35971789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:35971789G>A	uc004ddj.3	+	6	1193	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	376										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCCGTAGGAAGTAAAGAT	0.323000														1			34		0	0	0.00058488	0	0
ITLN1	55600	broad.mit.edu	37	1	160854650	160854650	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160854650G>A	uc001fxc.3	-	1	134	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	6					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAAACAGCAGGAAGCTGAGTT	0.507000														199			38		0	0	0.00170553	0	0
CILP	8483	broad.mit.edu	37	15	65490746	65490746	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:65490746G>A	uc002aon.2	-	8	2059	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	626					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGGGATCCAGGAAGGTCACAC	0.522000														22			54		0	0	0.000781405	0	0
URB2	9816	broad.mit.edu	37	1	229773366	229773366	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:229773366G>T	uc001hts.1	+	3	3142	c.3006G>T	c.(3004-3006)ggG>ggT	p.G1002G	URB2_uc009xfd.1_Silent_p.G1002G	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1002						nucleolus		p.G1002E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAGTGATAGGGACGTTCTTAG	0.428000														40			30		7.38237e-10	2.69319e-09	0.00106085	1	0
BOD1L1	259282	broad.mit.edu	37	4	13606324	13606324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:13606324G>A	uc003gmz.1	-	9	2317	c.2200C>T	c.(2200-2202)Cca>Tca	p.P734S	BOD1L1_uc010idr.1_Missense_Mutation_p.P71S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	734	Lys-rich.						DNA binding										TCTTCCGATGGAGTTTTCTCT	0.363000														35			21		0	0	0.00121646	0	0
LDB3	11155	broad.mit.edu	37	10	88439220	88439220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:88439220G>A	uc001kdv.3	+	1	213	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LDB3_uc010qml.1_Missense_Mutation_p.E64K|LDB3_uc010qmm.2_Missense_Mutation_p.E64K|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Missense_Mutation_p.E64K|LDB3_uc001kdr.3_Missense_Mutation_p.E64K|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.E64K|LDB3_uc001kds.3_Missense_Mutation_p.E64K	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	64	PDZ.					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						GACCCACCTGGAAGCCCAGAA	0.602000														22			28		0	0	0.00106085	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410121	121410122	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121410121_121410122CC>AA	uc010hrc.3	-	13	8215_8216	c.8089_8090GG>TT	c.(8089-8091)ggg>TTg	p.G2697L	GOLGB1_uc003eei.4_Missense_Mutation_p.G2692L|GOLGB1_uc003eej.4_Missense_Mutation_p.G2658L|GOLGB1_uc021xcy.1_Missense_Mutation_p.G2617L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2692					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCATTATCCCTGCATCATGA	0.391000														244			8		0	0	6.4e-05	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900290	112900290	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:112900290C>T	uc004bei.2	+	8	3354	c.3162C>T	c.(3160-3162)tcC>tcT	p.S1054S	PALM2-AKAP2_uc004bej.4_Silent_p.S822S|PALM2-AKAP2_uc004bek.4_Silent_p.S822S|PALM2-AKAP2_uc004bel.1_Silent_p.S632S|PALM2-AKAP2_uc011lwi.2_Silent_p.S680S|PALM2-AKAP2_uc004bem.3_Silent_p.S680S|PALM2-AKAP2_uc010mtw.1_Silent_p.S640S|PALM2-AKAP2_uc011lwj.2_Silent_p.S591S|PALM2-AKAP2_uc004ben.3_Silent_p.S591S	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	591							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGCTGTGTCCAAAACCAGCA	0.542000														32			6		0	0	0.00116845	0	0
DNAH11	8701	broad.mit.edu	37	7	21856193	21856193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:21856193G>A	uc003svc.3	+	64	10493	c.10462G>A	c.(10462-10464)Gaa>Aaa	p.E3488K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3488	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTCCACCGAAAATGCCGC	0.493000									Kartagener syndrome					5			15		0	0	0.00244969	0	0
KCNK10	54207	broad.mit.edu	37	14	88652155	88652155	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:88652155G>A	uc001xwm.3	-	6	1478	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	KCNK10_uc001xwn.3_Silent_p.F452F|KCNK10_uc001xwo.3_Silent_p.F447F	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	447					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						AGGTGGACCCGAACTTGTTGA	0.542000														122			31		0	0	0.0024448	0	0
AK309896	0	broad.mit.edu	37	9	66513833	66513833	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:66513833G>A	uc010mnh.1	-	5		c.915C>T								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		TCTTCTACATGATCAACGCAG	0.488000														55			9		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221068	140221068	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140221068G>A	uc003lhs.2	+	0	162	c.162G>A	c.(160-162)ctG>ctA	p.L54L	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_uc003lhr.1_Silent_p.L54L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	67	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)			ACCTGGGGCTGGAGCTGGCGG	0.637000														73			42		0	0	0.00222228	0	0
DCN	1634	broad.mit.edu	37	12	91572209	91572209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:91572209G>A	uc001tbt.3	-	1	375	c.121C>T	c.(121-123)Cct>Tct	p.P41S	DCN_uc001tbo.3_Missense_Mutation_p.P41S|DCN_uc001tbp.3_Missense_Mutation_p.P41S|DCN_uc001tbq.3_Missense_Mutation_p.P41S|DCN_uc001tbr.3_Missense_Mutation_p.P41S|DCN_uc001tbu.3_Missense_Mutation_p.P41S	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	41					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CGGTCATCAGGAACTTCTGGG	0.537000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			34		0	0	0.00283554	0	0
ZFHX3	463	broad.mit.edu	37	16	72992847	72992847	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:72992847G>A	uc002fck.3	-	1	1871	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	400					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)				AGGTTCAACAGGGTGCTGGGG	0.622000														70			31		0	0	0.00127121	0	0
PAGE3	139793	broad.mit.edu	37	X	55287011	55287011	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:55287011C>T	uc022bxs.1	-	3		c.470G>A			PAGE3_uc011mon.2_Non-coding_Transcript					Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA.											endometrium(1)|kidney(1)|lung(1)	3						CAGAAATTCTCCCTTGACATT	0.393000														10			8		0	0	0.000673444	0	0
CERS6	253782	broad.mit.edu	37	2	169313054	169313054	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:169313054C>T	uc002uec.1	+	0	220	c.96C>T	c.(94-96)ttC>ttT	p.F32F	CERS6_uc002ueb.1_Silent_p.F32F	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	32						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGGCCACCTTCCCGCAGGCTG	0.582000														54			9		0	0	0.000673444	0	0
RGPD3	653489	broad.mit.edu	37	2	107041433	107041433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:107041433G>A	uc010ywi.1	-	19	3047	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	997					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCAGCACCTGAAAATCCCTT	0.378000														147			100		0	0	0.000781405	0	0
C10orf12	26148	broad.mit.edu	37	10	98741766	98741766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:98741766C>T	uc001kmv.3	+	0	726	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	C10orf12_uc009xvg.2_Missense_Mutation_p.R517C	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCAACTGTTCGTACACTGGC	0.433000														36			35		0	0	0.00111076	0	0
INSRR	3645	broad.mit.edu	37	1	156821858	156821858	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156821858G>A	uc010pht.2	-	2	1062	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Nonsense_Mutation_p.Q255*	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	255					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.Q255H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGCACCCTGGAAGTAGAGG	0.667000														37			6		0	0	0.00116845	0	0
TMEM206	55248	broad.mit.edu	37	1	212558705	212558705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:212558705G>A	uc010pte.2	-	4	757	c.589C>T	c.(589-591)Cct>Tct	p.P197S	TMEM206_uc001hjc.4_Missense_Mutation_p.P136S	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	136						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GTCAGAGGAGGAATGACCTCG	0.532000														68			12		0	0	0.00244969	0	0
SPEG	10290	broad.mit.edu	37	2	220354402	220354402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220354402C>T	uc010fwg.3	+	35	8662	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2888	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCTCCACTCCTCAAGGGGT	0.627000														154			51		0	0	0.000781405	0	0
WDFY3	23001	broad.mit.edu	37	4	85611810	85611810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:85611810G>A	uc003hpd.3	-	60	9620	c.9212C>T	c.(9211-9213)aCt>aTt	p.T3071I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3071						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)		TTCATAAACAGTCATGGCCTA	0.478000														23			14		0	0	0.000308642	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:71026984G>A	uc003dol.3	-	10	1666	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_uc003dom.3_Missense_Mutation_p.S372L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.S448L|FOXP1_uc003doo.3_Missense_Mutation_p.S448L|FOXP1_uc003dop.3_Missense_Mutation_p.S448L|FOXP1_uc021xao.1_Missense_Mutation_p.S448L|FOXP1_uc003doq.1_Missense_Mutation_p.S447L|FOXP1_uc003doi.3_Missense_Mutation_p.S348L|FOXP1_uc003dok.3_Missense_Mutation_p.S374L|FOXP1_uc003doj.3_Missense_Mutation_p.S450L|FOXP1_uc003dor.1_Missense_Mutation_p.S226L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	448					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)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL									83			31		0	0	0.00209593	0	0
GABRG1	2565	broad.mit.edu	37	4	46043158	46043158	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:46043158G>A	uc003gxb.3	-	8	1397	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	415					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGCAACAGAAGAAGCTGGCAC	0.413000														29			6		0	0	0.000157383	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626884	108626884	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:108626884C>T	uc003dxj.2	-	3	683	c.615G>A	c.(613-615)aaG>aaA	p.K205K	GUCA1C_uc003dxk.2_3'UTR	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	205					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCATTTTCACCTTCCCTAGAC	0.453000														21			8		0	0	0.000274275	0	0
ARID1B	57492	broad.mit.edu	37	6	157405823	157405823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:157405823C>T	uc003qqp.3	+	4	2026	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	ARID1B_uc003qqo.3_Missense_Mutation_p.P689S|ARID1B_uc003qqn.3_Missense_Mutation_p.P676S|ARID1B_uc003qqq.1_Missense_Mutation_p.P60S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	676					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGATGACCTCCCCACGGGAAC	0.502000														25			20		0	0	0.00152264	0	0
ABCA2	20	broad.mit.edu	37	9	139915991	139915991	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:139915991G>A	uc004ckm.1	-	7	887	c.837C>T	c.(835-837)atC>atT	p.I279I	ABCA2_uc022bpy.1_Silent_p.I180I|ABCA2_uc022bpz.1_Silent_p.I250I|ABCA2_uc011mem.1_Silent_p.I249I|ABCA2_uc004ckl.1_Silent_p.I180I|ABCA2_uc004cko.1_Silent_p.I26I|ABCA2_uc010nca.3_Silent_p.I180I	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	249					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)		GCACAGTGAGGATCCGGCCCA	0.697000														5			4		0	0	0.000602214	0	0
DEFB132	400830	broad.mit.edu	37	20	238422	238422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:238422G>A	uc002wdb.3	+	0	46	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207469	NP_997352	Q7Z7B7	DB132_HUMAN	Homo sapiens defensin, beta 132 (DEFB132), mRNA.	1					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTTCAGCCATGAAGTTCCTGC	0.522000														13			6		0	0	0.000157383	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962599	37962599	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37962599C>T	uc003asz.4	+	1	646	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	81					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCAGCTTCCTGGCCAAGA	0.706000														32			14		0	0	0.00244969	0	0
FBN1	2200	broad.mit.edu	37	15	48704789	48704789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:48704789C>T	uc001zwx.2	-	64	8598	c.8203G>A	c.(8203-8205)Gaa>Aaa	p.E2735K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2735					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.N2734N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCATCAGTTTCGTTTGTGCTT	0.498000														21			43		0	0	0.00222228	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958475	21958475	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:21958475C>T	uc011kyx.2	+	11	1659	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	536										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGACCGAGATCGTCAACAGGT	0.478000														16			4		0	0	0.00024832	0	0
BCAM	4059	broad.mit.edu	37	19	45321855	45321855	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45321855C>T	uc002ozu.3	+	8	1199	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	BCAM_uc002ozt.1_Silent_p.S385S	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	385	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGAACTGCTCCGTGCACGGCC	0.647000														51			42		0	0	0.00222228	0	0
MTOR	2475	broad.mit.edu	37	1	11190724	11190724	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11190724G>A	uc001asd.3	-	38	5596	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I	MTOR_uc001asc.3_Silent_p.I30I	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1825	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						tggcgttggtgatgttggCCC	0.607000														23			5		0	0	0.000602214	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927229	53927229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53927229C>T	uc001cvq.1	+	1	716	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	221	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CTGCCCGTTCCCGCTGGGCTA	0.657000														67			23		0	0	0.00188189	0	0
ASPM	259266	broad.mit.edu	37	1	197111575	197111575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:197111575G>A	uc001gtu.3	-	2	2064	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ASPM_uc001gtv.3_Missense_Mutation_p.H603Y|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	603					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAGAAAAATGGATTCTTTTG	0.378000														203			37		0	0	0.000953801	0	0
VPS13A	23230	broad.mit.edu	37	9	79853039	79853039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:79853039C>T	uc004akr.3	+	17	1977	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	VPS13A_uc004akp.4_Missense_Mutation_p.P573S|VPS13A_uc004akq.4_Missense_Mutation_p.P573S|VPS13A_uc004aks.3_Missense_Mutation_p.P573S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	573					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						TGAGATAAATCCATTAGATGA	0.318000														94			60		0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1500483	1500483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1500483G>A	uc002qwr.3	+	12	2418	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E778K|TPO_uc002qwx.3_Missense_Mutation_p.E721K|TPO_uc002qwu.3_Missense_Mutation_p.E721K|TPO_uc010yio.2_Missense_Mutation_p.E605K|TPO_uc010yip.2_Missense_Mutation_p.E778K|TPO_uc002qwy.1_Missense_Mutation_p.E118K|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	778	Sushi.				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)	CCAAGGCCGGGAGCAGCTCAC	0.552000														102			80		0	0	0.000781405	0	0
THADA	63892	broad.mit.edu	37	2	43625187	43625187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:43625187G>A	uc002rsw.4	-	28	4502	c.4150C>T	c.(4150-4152)Cga>Tga	p.R1384*	THADA_uc010far.3_Nonsense_Mutation_p.R579*|THADA_uc002rsx.4_Nonsense_Mutation_p.R1384*|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Nonsense_Mutation_p.R1093*|THADA_uc010fat.1_Nonsense_Mutation_p.R531*	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1384							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACAGAGTTCGAATGGTATTA	0.493000														376			325		0	0	0.000781405	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375766	93375766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:93375766G>A	uc022bjs.1	-	0	344	c.344C>T	c.(343-345)cCc>cTc	p.P115L	DIRAS2_uc004aqx.1_Missense_Mutation_p.P115L	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	115					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGCATGATGGGGATGCTCTC	0.582000														86			22		0	0	0.00047179	0	0
FAM18A	780776	broad.mit.edu	37	16	10867934	10867934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10867934C>T	uc010buo.1	-	3	557	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|FAM18A_uc002daf.1_Non-coding_Transcript|FAM18A_uc002dae.1_Missense_Mutation_p.E32K	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	Homo sapiens family with sequence similarity 18, member A (FAM18A), mRNA.	96						integral to membrane				kidney(1)|lung(1)|upper_aerodigestive_tract(1)	3						TTCCCATCTTCATCTATCTGG	0.498000														9			13		0	0	0.00244969	0	0
HECW2	57520	broad.mit.edu	37	2	197183280	197183280	+	Silent	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:197183280A>T	uc002utm.1	-	8	2517	c.2334T>A	c.(2332-2334)acT>acA	p.T778T	HECW2_uc002utl.1_Silent_p.T422T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	778	Interaction with TP73.				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						TCCTACCTCCAGTAGCGCCCT	0.582000														49			28		0	0	0.00178596	0	0
PCSK1	5122	broad.mit.edu	37	5	95728839	95728839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:95728839G>A	uc003kls.2	-	13	2367	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	PCSK1_uc010jbi.2_Missense_Mutation_p.P400S|PCSK1_uc021ybq.1_Missense_Mutation_p.P663S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	710					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGGGAAGGTTTGTTCAGC	0.418000														93			42		0	0	0.000781405	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378693	114378693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:114378693G>A	uc003pwg.4	-	1	801	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.R257C	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	257					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATGAGGCGATCTCCATCG	0.423000														28			23		0	0	0.00278032	0	0
LILRB2	10288	broad.mit.edu	37	19	54783445	54783445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54783445C>T	uc002qfb.3	-	4	679	c.413G>A	c.(412-414)gGa>gAa	p.G138E	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G138E|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G138E|LILRB2_uc010yet.2_Missense_Mutation_p.G22E|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACCCTTCCTCCTGAGGT	0.582000														51			46		0	0	0.000781405	0	0
LRP8	7804	broad.mit.edu	37	1	53726184	53726184	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53726184T>C	uc001cvi.2	-	12	2245	c.2008A>G	c.(2008-2010)Aac>Gac	p.N670D	LRP8_uc001cvh.2_Missense_Mutation_p.N223D|LRP8_uc001cvj.2_Missense_Mutation_p.N670D|LRP8_uc001cvk.2_Missense_Mutation_p.N500D|LRP8_uc001cvl.2_Missense_Mutation_p.N541D|LRP8_uc001cvm.1_Missense_Mutation_p.N255D	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	670					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						TGTGGGTTGTTGAGGTTCTCA	0.537000														57			59		0	0	0.000781405	0	0
PBX1	5087	broad.mit.edu	37	1	164532502	164532502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:164532502G>A	uc001gct.3	+	1	682	c.219G>A	c.(217-219)atG>atA	p.M73I	PBX1_uc010pku.2_Missense_Mutation_p.M73I|PBX1_uc001gcs.3_Missense_Mutation_p.M73I|PBX1_uc010pkv.2_Intron	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	73					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCCACAGAATGAAGCCTGCCT	0.368000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									120			22		0	0	0.00278032	0	0
KCNH4	23415	broad.mit.edu	37	17	40321672	40321672	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40321672G>A	uc002hzb.2	-	8	1746	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	471					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACGTTCCCGAACACCACAG	0.657000														44			20		0	0	0.00047179	0	0
ELMO1	9844	broad.mit.edu	37	7	37354483	37354483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:37354483C>T	uc022abv.1	-	3	873	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	55					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323000														32			23		0	0	0.001512	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10532044	10532044	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10532044G>A	uc002czw.3	+	3	1206	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.G349G|ATF7IP2_uc002czv.3_Silent_p.G349G|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AACGCATTGGGAAGACAGAGT	0.343000														47			27		0	0	0.00127121	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431494	140431494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140431494C>T	uc003lik.1	+	0	516	c.439C>T	c.(439-441)Cct>Tct	p.P147S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	147	Cadherin 2.				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)			GGAGAGCACCCCTTTGGGTTC	0.532000														13			23		0	0	0.00047179	0	0
FSHR	2492	broad.mit.edu	37	2	49244651	49244651	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:49244651C>T	uc002rww.3	-	3	461	c.351G>A	c.(349-351)caG>caA	p.Q117Q	FSHR_uc010fbn.3_Silent_p.Q117Q|FSHR_uc002rwx.3_Silent_p.Q117Q|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	117					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)	TGGGAAGGTTCTGGAAGGCCT	0.393000									Gonadal Dysgenesis, 46 XX					15			11		0	0	0.00136819	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493401	65493401	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:65493401C>T	uc003xvi.3	+	0	607	c.54C>T	c.(52-54)ttC>ttT	p.F18F	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ACGACCTCTTCCTGCACAAGA	0.771000														6			9		0	0	0.000673444	0	0
NLRP12	91662	broad.mit.edu	37	19	54313058	54313058	+	Missense_Mutation	SNP	C	T	T	rs139082917		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54313058C>T	uc002qcj.4	-	2	2075	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E619K|NLRP12_uc002qci.4_Missense_Mutation_p.E619K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E619K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	619					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGGATCTCGTACAAGCAG	0.557000														89			32		0	0	0.00058488	0	0
ROS1	6098	broad.mit.edu	37	6	117718260	117718260	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:117718260C>T	uc003pxp.1	-	6	796	c.597G>A	c.(595-597)ttG>ttA	p.L199L	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.	199	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P198L(1)	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)		TATTCCTAATCAAAGGTGCAG	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									25			17		0	0	0.000958276	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542517	21542517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21542517C>T	uc001vzp.3	+	2	657	c.628C>T	c.(628-630)Cca>Tca	p.P210S	ARHGEF40_uc001vzn.1_Missense_Mutation_p.P210S|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	210					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTCTGGACCTCCAGGGCTTCC	0.617000														12			7		0	0	0.00198382	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672962	141672962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141672962C>T	uc003vwx.1	-	0	612	c.528G>A	c.(526-528)atG>atA	p.M176I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	176					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTGTTATTCATGAATAGCA	0.408000														67			13		0	0	0.00244969	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979005	119979005	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:119979005C>T	uc010inb.3	+	4	3898	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Silent_p.S1104S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						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						CAATCATGTCCATGGAAACCA	0.433000														37			24		0	0	0.00278032	0	0
PDCL	5082	broad.mit.edu	37	9	125582721	125582721	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125582721G>A	uc004bmz.2	-	3	740	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	183					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATGAACCATGATGACAATGC	0.463000														67			36		0	0	0.000953801	0	0
MASP1	5648	broad.mit.edu	37	3	187003734	187003734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:187003734G>A	uc003frh.2	-	1	506	c.116C>T	c.(115-117)tCc>tTc	p.S39F	MASP1_uc003fri.3_Missense_Mutation_p.S39F|MASP1_uc003frj.3_Intron|MASP1_uc003frk.2_Missense_Mutation_p.S39F|MASP1_uc011bse.2_Missense_Mutation_p.S13F	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	39	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTGGGATAGGAGTCTGGATA	0.478000														51			21		0	0	0.00278032	0	0
TCF21	6943	broad.mit.edu	37	6	134210763	134210763	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:134210763G>A	uc003qei.4	+	0	505	c.228G>A	c.(226-228)ggG>ggA	p.G76G	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.G76G	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	76					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)		GCCAGGAGGGGAAGCAGGTCC	0.692000														18			10		0	0	0.000978159	0	0
EIF2C3	192669	broad.mit.edu	37	1	36521258	36521258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36521258C>T	uc001bzp.3	+	18	2840	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	EIF2C3_uc001bzq.3_Missense_Mutation_p.S598L	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	832					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTCACGTTTCAGGACAAAGC	0.393000														68			95		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	14	107013112	107013112	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:107013112C>T	uc021ser.1	-	218		c.8764G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.532000														55			17		0	0	0.000566183	0	0
SETBP1	26040	broad.mit.edu	37	18	42531786	42531786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:42531786G>A	uc010dni.3	+	3	2777	c.2481G>A	c.(2479-2481)tgG>tgA	p.W827*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	827						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGAACCTGGAAGCTGTCTC	0.507000									Schinzel-Giedion syndrome					71			14		0	0	0.000566183	0	0
IWS1	55677	broad.mit.edu	37	2	128262941	128262941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:128262941G>A	uc002ton.2	-	2	841	c.538C>T	c.(538-540)Cct>Tct	p.P180S	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	180	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGATTTGAGGTTTTAGAGCA	0.488000														106			76		0	0	0.000781405	0	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18269491	18269491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:18269491G>A	uc021qel.1	-	1	144	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.S23L|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.S23L	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		GCCAAGGAACGAAAAGAAGCT	0.498000														23			19		0	0	0.00047179	0	0
NPY1R	4886	broad.mit.edu	37	4	164246629	164246629	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164246629G>A	uc003iqm.2	-	2	1446	c.981C>T	c.(979-981)ttC>ttT	p.F327F	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.F84F	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	327					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.F327F(2)|p.F327V(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTCTCTCTGGAAGTTTTTGT	0.433000														49			14		0	0	0.000422831	0	0
ALPPL2	251	broad.mit.edu	37	2	233274158	233274158	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233274158G>A	uc002vss.4	+	10	1353	c.1300_splice	c.e10+1	p.G434_splice		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	434					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GAGCGAGAGCGGTGAGTGCCG	0.662000														6			4		0	0	0.00116845	0	0
C1orf173	127254	broad.mit.edu	37	1	75055375	75055375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75055375C>T	uc001dgg.3	-	11	2335	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E500K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	706	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						GTGCTTTCTTCCCAAAGCTTA	0.478000														127			37		0	0	0.00111076	0	0
GPR148	344561	broad.mit.edu	37	2	131487309	131487309	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:131487309G>A	uc002trv.2	+	0	667	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	195						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)					CCCAGCTGGAGGAGCAAGGAG	0.582000														69			22		0	0	0.00229938	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55045040C>T	uc010yfa.1	+	2		c.266C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.									p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000														42			16		0	0	0.00074312	0	0
MME	4311	broad.mit.edu	37	3	154836577	154836577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154836577G>A	uc010hvr.1	+	7	908	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	MME_uc003fab.1_Missense_Mutation_p.E233K|MME_uc003fac.1_Missense_Mutation_p.E233K|MME_uc003fad.1_Missense_Mutation_p.E233K|MME_uc003fae.1_Missense_Mutation_p.E233K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	233					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)	AGATTACTATGAATGCACTGG	0.284000														7			9		0	0	0.00136819	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552420	21552420	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:21552420C>T	uc003cce.3	-	3	780	c.372G>A	c.(370-372)aaG>aaA	p.K124K	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	124						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGCGCTGTCCTTGGCAGTTA	0.463000														77			25		0	0	0.00127121	0	0
OSBP2	23762	broad.mit.edu	37	22	31286918	31286918	+	Silent	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31286918G>C	uc003aiy.1	+	7	1931	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L	OSBP2_uc011ala.1_Silent_p.L443L|OSBP2_uc010gwc.1_Silent_p.L436L|OSBP2_uc011alb.1_Silent_p.L560L|OSBP2_uc003aiz.1_Silent_p.L608L|OSBP2_uc003aja.1_Silent_p.L242L|OSBP2_uc011alc.2_Silent_p.L351L|OSBP2_uc011ald.1_Silent_p.L153L|OSBP2_uc010gwd.1_Silent_p.L154L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	609					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCTTCGAGCTGGACCGCCTCG	0.657000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			9		0	0	0.000673444	0	0
MLL	4297	broad.mit.edu	37	11	118365450	118365450	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:118365450C>T	uc001pta.3	+	17	5345	c.5322C>T	c.(5320-5322)tcC>tcT	p.S1774S	MLL_uc001ptb.3_Silent_p.S1777S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1774					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCAAAAAGTCCAGGTTTTGGG	0.328000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									31			17		0	0	0.00152264	0	0
CD163	9332	broad.mit.edu	37	12	7653826	7653826	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7653826C>T	uc001qsz.3	-	2	494	c.366G>A	c.(364-366)ggG>ggA	p.G122G	CD163_uc001qta.3_Silent_p.G122G|CD163_uc009zfw.2_Silent_p.G122G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	122	SRCR 1.				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						CTGACTCATTCCCACGACAAG	0.483000														49			76		0	0	0.000781405	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064625	78064625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:78064625G>A	uc002ffh.4	+	2	562	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	CLEC3A_uc021tlr.1_Missense_Mutation_p.G109S	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	161	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACAGCCTAACGGTGGCAAGCG	0.527000														48			21		0	0	0.00229938	0	0
KCNS3	3790	broad.mit.edu	37	2	18112700	18112700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:18112700C>T	uc021veh.1	+	0	425	c.425C>T	c.(424-426)aCc>aTc	p.T142I	KCNS3_uc002rcv.3_Missense_Mutation_p.T142I|KCNS3_uc002rcw.3_Missense_Mutation_p.T142I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	142					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGTGAGTACCGACTCCTCG	0.478000														42			46		0	0	0.0025221	0	0
NPY1R	4886	broad.mit.edu	37	4	164246778	164246778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164246778G>A	uc003iqm.2	-	2	1297	c.832C>T	c.(832-834)Cct>Tct	p.P278S	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.P35S	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	278					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGGTAAGAGGGAGCCAGCAG	0.433000														15			34		0	0	0.0024448	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55846191C>T	uc001sgz.1	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		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						AGAAATTTTTCCTTCTTAGAA	0.398000														20			29		0	0	0.00106085	0	0
NUCB1	4924	broad.mit.edu	37	19	49416799	49416799	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49416799C>T	uc002plb.4	+	6	1069	c.735C>T	c.(733-735)ccC>ccT	p.P245P	NUCB1_uc002pla.3_Silent_p.P245P	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	245	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 1.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGTTTAACCCCAAGACCTTCT	0.562000														33			35		0	0	0.000953801	0	0
MMP12	4321	broad.mit.edu	37	11	102733896	102733896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:102733896C>T	uc001phk.3	-	10	1442	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	450	Hemopexin-like 4.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAGTCATATTCAAATTGGTTA	0.313000														32			34		0	0	0.00148497	0	0
UNC13C	440279	broad.mit.edu	37	15	54305220	54305220	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:54305220G>A	uc021smr.1	+	0	120	c.120G>A	c.(118-120)aaG>aaA	p.K40K	UNC13C_uc021sms.1_Silent_p.K40K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	40					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)		AGCAGAAAAAGGATCAAGACT	0.368000														10			27		0	0	0.00127121	0	0
ZNF229	7772	broad.mit.edu	37	19	44933669	44933669	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44933669C>T	uc002oze.1	-	5	1721	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	ZNF229_uc010ejk.1_Silent_p.G83G|ZNF229_uc010ejl.1_Silent_p.G423G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGGCTTCTCCCCTGTGTGCA	0.537000														35			9		0	0	0.000274275	0	0
DNAH17	8632	broad.mit.edu	37	17	76526586	76526587	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76526586_76526587GG>AA	uc010dhp.2	-	20	3247_3248	c.3122_3123CC>TT	c.(3121-3123)tcc>tTT	p.S1041F		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)			GCTTCTCGTAGGAGTCGATCTG	0.629000														111			21		0	0	6.4e-05	0	0
SUSD2	56241	broad.mit.edu	37	22	24581879	24581879	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24581879T>C	uc002zzn.1	+	7	1365	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	441					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			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						CTGCCGCAACTACCGGCCCCC	0.657000														7			13		0	0	0.00244969	0	0
DOT1L	84444	broad.mit.edu	37	19	2226333	2226333	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:2226333C>T	uc002lvc.1	+	12	2462	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	DOT1L_uc002lvb.4_Silent_p.S1271S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1271						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGAACTCCCTGTTCACGT	0.687000														14			6		0	0	0.00116845	0	0
GSN	2934	broad.mit.edu	37	9	124074660	124074660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:124074660G>A	uc004blf.1	+	4	771	c.710G>A	c.(709-711)aGa>aAa	p.R237K	GSN_uc004bld.1_Missense_Mutation_p.R186K|GSN_uc010mvr.1_Missense_Mutation_p.R197K|GSN_uc010mvq.1_Missense_Mutation_p.R197K|GSN_uc010mvu.1_Missense_Mutation_p.R186K|GSN_uc010mvt.1_Missense_Mutation_p.R186K|GSN_uc010mvs.1_Missense_Mutation_p.R186K|GSN_uc004ble.1_Missense_Mutation_p.R186K|GSN_uc010mvv.1_Missense_Mutation_p.R186K|GSN_uc011lyh.1_Missense_Mutation_p.R203K|GSN_uc011lyi.1_Missense_Mutation_p.R186K|GSN_uc011lyj.1_Missense_Mutation_p.R210K|GSN_uc004blg.1_5'UTR	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	237					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	p.R237T(1)|p.R186T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CGGTATGAAAGACTGAAGGCC	0.617000														103			31		0	0	0.00058488	0	0
DDX1	1653	broad.mit.edu	37	2	15763586	15763586	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:15763586C>T	uc002rce.3	+	18	1762	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	DDX1_uc010yjq.1_Silent_p.L400L|DDX1_uc021vee.1_Silent_p.L411L	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	492	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TATTAAAATCCTGAAAGGGGA	0.353000														36			17		0	0	0.000958276	0	0
GGT2	728441	broad.mit.edu	37	22	21563091	21563091	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:21563091G>A	uc011aic.1	-	2	318	c.60C>T	c.(58-60)atC>atT	p.I20I						Homo sapiens gamma-glutamyltransferase 3 pseudogene, mRNA (cDNA clone IMAGE:9052120).																		TGTCTGTGGTGATCTGCGTGC	0.647000														45			15		0	0	0.000566183	0	0
STXBP4	252983	broad.mit.edu	37	17	53237186	53237186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:53237186C>T	uc002iuf.1	+	17	1783	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	STXBP4_uc010dcd.1_Missense_Mutation_p.H504Y	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	526	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATCCTGGATCCATCCCGTGAT	0.433000														14			21		0	0	0.00047179	0	0
KCNA5	3741	broad.mit.edu	37	12	5155047	5155048	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5155047_5155048GG>AA	uc001qni.3	+	0	1963_1964	c.1734_1735GG>AA	c.(1732-1737)aggggc>agAAgc	p.G579S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	579						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GTGCCCGAAGGGGCAGCTGCCC	0.634000														21			13		0	0	6.4e-05	0	0
XKR6	286046	broad.mit.edu	37	8	10756373	10756373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:10756373G>A	uc003wtk.1	-	2	1042	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	339						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)		AGCAGCTTGTGATAGGAGGCT	0.557000														96			41		0	0	0.00148497	0	0
HECW1	23072	broad.mit.edu	37	7	43484569	43484569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:43484569C>T	uc003tid.1	+	10	2403	c.1798C>T	c.(1798-1800)Ctc>Ttc	p.L600F	HECW1_uc011kbi.1_Missense_Mutation_p.L600F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	600					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						GAAGGATGGGCTCAGCGAGGT	0.701000														32			6		0	0	0.00198382	0	0
EPHA4	2043	broad.mit.edu	37	2	222347194	222347194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:222347194G>A	uc002vmq.3	-	4	1238	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	EPHA4_uc002vmr.2_Missense_Mutation_p.S399F|EPHA4_uc010zlm.1_Missense_Mutation_p.S340F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	399	Fibronectin type-III 1.		S -> F (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.S399F(2)		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)		GTCAGTGATGGAGACTTTGGT	0.502000														210			152		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179647604	179647604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179647604C>T	uc021vsy.1	-	17	3254	c.3029G>A	c.(3028-3030)aGc>aAc	p.S1010N	TTN_uc021vsz.1_Missense_Mutation_p.S964N|TTN_uc021vta.1_Missense_Mutation_p.S964N|TTN_uc021vtb.1_Missense_Mutation_p.S964N|TTN_uc002unb.2_Missense_Mutation_p.S1010N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1010	Ig-like 3.						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)			AAATCGCCCGCTGTCTTCCGC	0.498000														25			22		0	0	0.00188189	0	0
KCNH5	27133	broad.mit.edu	37	14	63447746	63447746	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:63447746G>A	uc001xfx.3	-	5	837	c.786C>T	c.(784-786)atC>atT	p.I262I	KCNH5_uc001xfy.3_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.3_Silent_p.I204I	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	262					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)		AATTTAAAACGATGTCAACCA	0.423000														50			15		0	0	0.000308642	0	0
DMBT1	1755	broad.mit.edu	37	10	124380882	124380882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124380882G>A	uc001lgk.1	+	40	5313	c.5207G>A	c.(5206-5208)gGt>gAt	p.G1736D	DMBT1_uc001lgl.1_Missense_Mutation_p.G1726D|DMBT1_uc001lgm.1_Missense_Mutation_p.G1108D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1736D|DMBT1_uc021qag.1_Missense_Mutation_p.G1726D|DMBT1_uc021qah.1_Missense_Mutation_p.G1108D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1736D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G439D|DMBT1_uc009yac.1_Missense_Mutation_p.G50D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1736	SRCR 13.				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)				GAAGACGCTGGTGTCATCTGC	0.562000														22			55		0	0	0.000781405	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961340	73961340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73961340C>T	uc004eby.3	-	2	3669	c.3052G>A	c.(3052-3054)Ggc>Agc	p.G1018S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1018					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						TCATCATCGCCATCCTTTTCA	0.463000														2			23		0	0	0.00229938	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342342	60342342	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:60342342G>A	uc010woz.2	-	13		c.1787C>T								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TAAGCCTAGGGAAATTATCCA	0.483000														44			85		0	0	0.000781405	0	0
A2ML1	144568	broad.mit.edu	37	12	8976394	8976394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8976394G>A	uc001quz.4	+	2	423	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						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						CAGCTTTGAGGAGAAGAAAAA	0.502000														69			30		0	0	0.00209593	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495420	120495420	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:120495420C>T	uc003edz.4	+	3	915	c.801C>T	c.(799-801)gcC>gcT	p.A267A		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	267					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTCATCGAGCCTCACTGGAAG	0.453000														45			15		0	0	0.000308642	0	0
ARAP2	116984	broad.mit.edu	37	4	36212334	36212334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:36212334C>T	uc003gsq.2	-	5	1503	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	ARAP2_uc003gsr.1_Missense_Mutation_p.E389K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	389					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						ACCTTGTCCTCGCTTATTTTC	0.338000														52			20		0	0	0.00121646	0	0
CLDN7	1366	broad.mit.edu	37	17	7164257	7164257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7164257C>T	uc002gfm.4	-	1	1173	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	CLDN7_uc010cmc.3_Missense_Mutation_p.G91S|CLDN7_uc002gfn.4_Missense_Mutation_p.G91S	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	91					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						GCCAGGAAGCCCAGCACCAGG	0.632000														2			20		0	0	0.00121646	0	0
LRRC16A	55604	broad.mit.edu	37	6	25492246	25492246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25492246C>T	uc011djw.2	+	14	1582	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	LRRC16A_uc010jpy.3_Missense_Mutation_p.S405F	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	405					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						ACTGTCTTCTCTCACCGGTAT	0.408000														36			8		0	0	0.000274275	0	0
DNAH17	8632	broad.mit.edu	37	17	76566443	76566443	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76566443G>A	uc010dhp.2	-	6	1055	c.930C>T	c.(928-930)ttC>ttT	p.F310F	DNAH17_uc002jvv.2_Silent_p.F12F	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)			CCTTGGCAATGAAGGTGGGGA	0.602000														16			4		0	0	0.00116845	0	0
NUBPL	80224	broad.mit.edu	37	14	32142590	32142591	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:32142590_32142591GG>AA	uc001wrk.4	+	4	467_468	c.412_413GG>AA	c.(412-414)ggt>AAt	p.G138N	NUBPL_uc010amj.3_Non-coding_Transcript|NUBPL_uc010tpl.2_Missense_Mutation_p.G42N	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	Homo sapiens nucleotide binding protein-like (NUBPL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	138					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CTTGAATTATGGTATTGCTTGG	0.272000														21			5		0	0	6.4e-05	0	0
FAM83C	128876	broad.mit.edu	37	20	33879595	33879595	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:33879595C>T	uc021wck.1	-	1	631	c.513_splice	c.e1+1	p.T171_splice	FAM83C_uc002xcb.1_Splice_Site	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	171										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)			aGGCCCTTACCGTGTGGGCCT	0.597000														80			29		0	0	0.0024448	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68704004	68704004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:68704004G>A	uc003hdq.3	-	4	426	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Nonsense_Mutation_p.Q4*	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	121	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTAGTGAATTGAAATTTCATG	0.333000														31			7		0	0	0.000157383	0	0
ZNF385D	79750	broad.mit.edu	37	3	21466984	21466984	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:21466984C>T	uc003cce.3	-	6	1260	c.852_splice	c.e6+1	p.Q284_splice		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	284						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGCTGTTTACCTGTTTAAGTT	0.408000														56			14		0	0	0.00244969	0	0
FBLN5	10516	broad.mit.edu	37	14	92343867	92343867	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92343867G>A	uc010aue.3	-	10	1745	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	FBLN5_uc010aud.3_Silent_p.I388I|FBLN5_uc001xzx.4_Silent_p.I383I|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	383					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCCAGATTTGATCTGGAAAA	0.552000														56			18		0	0	0.000958276	0	0
MAPK15	225689	broad.mit.edu	37	8	144801597	144801597	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:144801597C>T	uc003yzj.3	+	6	707	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	222	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CCGGCACGTCCACCCTCCACC	0.662000														39			14		0	0	0.00121646	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767939	31767939	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31767939C>T	uc002nsy.4	-	1	2825	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	920					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGATGTACTTCCCTTCTGAGG	0.622000														54			13		0	0	0.00244969	0	0
APOB	338	broad.mit.edu	37	2	21233907	21233907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21233907C>T	uc002red.3	-	25	5961	c.5833G>A	c.(5833-5835)Gat>Aat	p.D1945N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1945					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)	CCTTTGTAATCATGAGAGAAA	0.468000														363			134		0	0	0.000781405	0	0
IL17A	3605	broad.mit.edu	37	6	52054084	52054084	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:52054084G>A	uc003pak.1	+	2	507	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	154					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TCCACCATGTGGCCTAAGAGC	0.597000														12			11		0	0	0.000978159	0	0
KCNH8	131096	broad.mit.edu	37	3	19575308	19575308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:19575308C>T	uc003cbk.1	+	15	3236	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L	KCNH8_uc010hex.1_Missense_Mutation_p.P475L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1014	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCATCTCTCCACATTCAGAT	0.448000														142			38		0	0	0.0025221	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060384	128060384	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:128060384C>T	uc003eki.3	+	4	1133	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	365						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTATACTGGACTCTTTCAACT	0.493000														39			20		0	0	0.000958276	0	0
LRP1	4035	broad.mit.edu	37	12	57594821	57594821	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:57594821C>T	uc001snd.3	+	64	10696	c.10230C>T	c.(10228-10230)atC>atT	p.I3410I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3410	LDL-receptor class A 22.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACAGACATCCACGTCTGCT	0.612000														59			26		0	0	0.00106085	0	0
CELSR1	9620	broad.mit.edu	37	22	46835148	46835148	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:46835148C>T	uc003bhw.1	-	2	4344	c.4344G>A	c.(4342-4344)ccG>ccA	p.P1448P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1448	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.P1448P(2)|p.P1448L(1)|p.P1448S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGACTGGGGCGGGAAGCTCC	0.652000														132			31		0	0	0.00058488	0	0
PRDM8	56978	broad.mit.edu	37	4	81124550	81124550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:81124550G>A	uc010ijo.3	+	7	2773	c.1934G>A	c.(1933-1935)aGg>aAg	p.R645K	PRDM8_uc003hmb.4_Missense_Mutation_p.R645K|PRDM8_uc003hmc.4_Missense_Mutation_p.R645K	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TACCATATGAGGTCGCACCAC	0.602000														17			7		0	0	0.000157383	0	0
GLIS1	148979	broad.mit.edu	37	1	53995472	53995472	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53995472G>T	uc001cvr.1	-	3	1516	c.949C>A	c.(949-951)Cta>Ata	p.L317I		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	317					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						ACCGTGTCTAGGTGGGTGCGC	0.662000														84			24		7.26314e-15	2.65445e-14	0.00127121	1	0
INSL6	11172	broad.mit.edu	37	9	5164164	5164164	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:5164164A>T	uc003zix.3	-	1	407	c.391T>A	c.(391-393)Ttt>Att	p.F131I		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	131						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GATGAAGAAAATTCTCTTGTC	0.338000														4			26		0	0	0.000586117	0	0
CCDC63	160762	broad.mit.edu	37	12	111342572	111342572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:111342572C>T	uc001trv.1	+	10	1718	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L	CCDC63_uc010sye.1_Missense_Mutation_p.P468L|CCDC63_uc001trw.1_Missense_Mutation_p.P423L	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	508								p.P508T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGGGCTGACCCCTTCAGCGAC	0.592000														40			10		0	0	0.00136819	0	0
MXRA5	25878	broad.mit.edu	37	X	3238709	3238709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:3238709G>A	uc004crg.4	-	4	5174	c.5017C>T	c.(5017-5019)Cct>Tct	p.P1673S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1673						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)				AATGGGAGAGGAATTGTTGTA	0.413000														72			80		0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	T	T	rs138091231		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163693155C>T	uc002uch.2	-	1	428	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_uc002uci.3_Missense_Mutation_p.D67N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	67	PAS.				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)	TGGAGAAAGTCGCAGGTGCAT	0.507000														42			9		0	0	0.000442599	0	0
POLR2B	5431	broad.mit.edu	37	4	57860960	57860961	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:57860960_57860961TC>AA	uc003hcl.1	+	4	547_548	c.504_505TC>AA	c.(502-507)gatcgt>gaAAgt	p.168_169DR>ES	POLR2B_uc011cae.1_Missense_Mutation_p.161_162DR>ES|POLR2B_uc011caf.1_Missense_Mutation_p.93_94DR>ES	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	168					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTTGACAGATCGTGATCTTTG	0.337000														35			32		0	0	6.4e-05	0	0
TRIP6	7205	broad.mit.edu	37	7	100468258	100468258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100468258C>T	uc003uww.3	+	5	1062	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	TRIP6_uc010lhk.2_Missense_Mutation_p.R32C|TRIP6_uc022aiv.1_Missense_Mutation_p.R277C|TRIP6_uc022ait.1_Missense_Mutation_p.R32C|TRIP6_uc022aiu.1_Missense_Mutation_p.R32C	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	298	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCTTGATCGCGTCTTTCA	0.597000														8			75		0	0	0.000781405	0	0
CCL7	6354	broad.mit.edu	37	17	32598269	32598269	+	Missense_Mutation	SNP	C	T	T	rs149253093		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:32598269C>T	uc002hhz.3	+	1	251	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CCL7_uc010ctf.3_Intron	NM_006273	NP_006264	P80098	CCL7_HUMAN	Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.	61					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.R61W(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCACTGTCCCCGGGAAGCTGT	0.488000														49			26		0	0	0.00178596	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612448	54612448	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:54612448C>T	uc022adk.1	+	1	618	c.213C>T	c.(211-213)gaC>gaT	p.D71D	VSTM2A_uc010kzf.3_Silent_p.D71D	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	71	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGCCGGAGGACCTGGATCCCG	0.731000														29			11		0	0	0.00185496	0	0
CLRN2	645104	broad.mit.edu	37	4	17528501	17528501	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:17528501G>A	uc003gpg.1	+	2	597	c.495G>A	c.(493-495)acG>acA	p.T165T		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	165						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACGACCTGACGGAACGAATCG	0.547000														51			22		0	0	0.00188189	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:60029004G>A	uc002lin.3	+	6	746	c.708G>A	c.(706-708)agG>agA	p.R236R	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423000														269			59		0	0	0.000781405	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425373	39425373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39425373C>T	uc003awt.4	+	4	1018	c.611C>T	c.(610-612)cCg>cTg	p.P204L	APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTCAGAAACCCGATGGAGGCA	0.522000														105			79		0	0	0.000781405	0	0
GCET2	257144	broad.mit.edu	37	3	111842472	111842472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:111842472C>T	uc021xcl.1	-	5	558	c.373G>A	c.(373-375)Gga>Aga	p.G125R	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.G123R|GCET2_uc021xcm.1_Missense_Mutation_p.G108R	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	123						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GTCTCAGTTCCTCCCAAGGAC	0.483000														55			29		0	0	0.00178596	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498502	66498502	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:66498502C>T	uc011dxw.2	+	0		c.731C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		CATCAAAACCCGGGATGCAAT	0.463000														24			18		0	0	0.00074312	0	0
SPTA1	6708	broad.mit.edu	37	1	158648241	158648241	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158648241G>A	uc001fst.1	-	5	961	c.762C>T	c.(760-762)ctC>ctT	p.L254L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	254					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)					TCTGTCTCTGGAGAGCCAAAC	0.428000														17			24		0	0	0.000878237	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497314	110497314	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110497314C>T	uc003yne.3	+	57	9722	c.9618C>T	c.(9616-9618)ttC>ttT	p.F3206F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3206					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)			GCTACGATTTCCACCAGACAG	0.323000										HNSCC(38;0.096)				23			9		0	0	0.000442599	0	0
TTC25	83538	broad.mit.edu	37	17	40093094	40093094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40093094C>T	uc002hyj.4	+	4	628	c.539C>T	c.(538-540)tCg>tTg	p.S180L	TTC25_uc021txp.1_Missense_Mutation_p.S180L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	180						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAGGCCTCGCTCAAGAGT	0.512000														81			31		0	0	0.00283554	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698552	96698552	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96698552T>C	uc001kka.4	+	0	138	c.113T>C	c.(112-114)gTg>gCg	p.V38A	CYP2C9_uc009xut.3_Missense_Mutation_p.V38A|CYP2C9_uc001kjz.3_Missense_Mutation_p.V38A	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	38					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)	CCTCTCCCAGTGATTGGAAAT	0.463000														27			26		0	0	0.000878237	0	0
PEAR1	375033	broad.mit.edu	37	1	156883701	156883701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156883701C>T	uc001fqj.1	+	21	2887	c.2771C>T	c.(2770-2772)cCa>cTa	p.P924L	PEAR1_uc001fqk.1_Missense_Mutation_p.P549L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	924	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGAGAACCCATATGCCACC	0.622000														43			9		0	0	0.000442599	0	0
BAAT	570	broad.mit.edu	37	9	104133253	104133253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104133253C>T	uc010mtd.3	-	1	543	c.434G>A	c.(433-435)gGc>gAc	p.G145D	BAAT_uc004bbd.4_Missense_Mutation_p.G145D	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	145					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCGAAGGCGGCCTTCTCGAAC	0.438000														92			16		0	0	0.000308642	0	0
MNF1	84300	broad.mit.edu	37	6	33669180	33669180	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:33669180G>A	uc003ofa.1	-	1	197	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MNF1_uc003oez.1_5'Flank|MNF1_uc010jve.1_Non-coding_Transcript	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA.	52																	TCTGATCACAGGCCTCAGGCT	0.493000														51			45		0	0	0.000781405	0	0
CDYL2	124359	broad.mit.edu	37	16	80667001	80667001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:80667001C>T	uc002ffs.3	-	2	854	c.749G>A	c.(748-750)cGa>cAa	p.R250Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	250						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AACGATGTCTCGAAACCGACA	0.537000														74			22		0	0	0.000586117	0	0
ROR2	4920	broad.mit.edu	37	9	94486368	94486368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:94486368G>A	uc004arj.2	-	8	2607	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	803	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCCTTCATGGGGATGAACTG	0.672000														36			48		0	0	0.000781405	0	0
PDE7B	27115	broad.mit.edu	37	6	136508200	136508200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136508200G>A	uc003qgp.3	+	11	1375	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.E410K	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	358	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.E358Q(2)		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)	ATTTGAACTGGAAATCAGTCC	0.289000														37			23		0	0	0.000586117	0	0
KLRF1	51348	broad.mit.edu	37	12	9997066	9997066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9997066G>A	uc021qux.1	+	5	704	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KLRF1_uc001qwm.3_Non-coding_Transcript|KLRF1_uc009zgy.3_Non-coding_Transcript|KLRF1_uc009zgz.3_3'UTR|KLRF1_uc009zha.3_Non-coding_Transcript|KLRF1_uc009zgw.3_Missense_Mutation_p.E164K|KLRF1_uc009zgx.3_Non-coding_Transcript	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA.	214	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TGCCATTAAGGAAAGCAAAAT	0.353000														2			11		0	0	0.00185496	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033178	41033178	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41033178A>T	uc003jmj.4	-	22	2816	c.2326T>A	c.(2326-2328)Ttt>Att	p.F776I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.F331I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	776							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						TTGTAGGAAAACTGGAACCCC	0.453000														8			15		0	0	0.00121646	0	0
NNT	23530	broad.mit.edu	37	5	43651924	43651924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:43651924C>T	uc003joe.3	+	12	2056	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S	NNT_uc003jof.3_Missense_Mutation_p.P601S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	601					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTACCTGCTCCCTGCCGGCAC	0.453000														82			36		0	0	0.00111076	0	0
SLC24A2	25769	broad.mit.edu	37	9	19520939	19520939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:19520939C>T	uc003zoa.2	-	8	1842	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	SLC24A2_uc003zob.2_Missense_Mutation_p.M546I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	563					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGGACACAGCCATGTCCCCTA	0.512000														2			10		0	0	0.000673444	0	0
BDKRB2	624	broad.mit.edu	37	14	96707157	96707157	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96707157C>T	uc010avm.1	+	2	688	c.492C>T	c.(490-492)tcC>tcT	p.S164S	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.S137S|BDKRB2_uc001yfg.2_Silent_p.S164S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	164					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AAACCATGTCCATGGGCCGGA	0.592000														115			36		0	0	0.000953801	0	0
MYOM2	9172	broad.mit.edu	37	8	2056620	2056620	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:2056620C>T	uc003wpx.4	+	24	3181	c.3043_splice	c.e24+1	p.T1015_splice	MYOM2_uc011kwi.2_Splice_Site_p.T440_splice	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1015					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TAAAGAACCCCAGTAAGTAAG	0.468000														48			53		0	0	0.000781405	0	0
GALNT8	26290	broad.mit.edu	37	12	4855377	4855377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:4855377G>A	uc001qne.1	+	5	1218	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	376	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTCTGGATGGTGGAATGCT	0.493000														48			23		0	0	0.00229938	0	0
CHST11	50515	broad.mit.edu	37	12	105150977	105150977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105150977C>T	uc001tkz.3	+	2	953	c.455C>T	c.(454-456)gCc>gTc	p.A152V	CHST11_uc001tky.3_Missense_Mutation_p.A147V	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	152					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.P151S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GAGATCCCGGCCAACGAGGCA	0.572000														48			10		0	0	0.000978159	0	0
ALMS1	7840	broad.mit.edu	37	2	73677368	73677368	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:73677368T>C	uc002sje.1	+	7	3822	c.3711T>C	c.(3709-3711)tcT>tcC	p.S1237S	ALMS1_uc002sjf.1_Silent_p.S1195S|ALMS1_uc002sjg.3_Silent_p.S625S|ALMS1_uc002sjh.1_Silent_p.S625S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1237	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCTCTGCTTCTTACTCACACA	0.478000														41			34		0	0	0.00209593	0	0
SPEF2	79925	broad.mit.edu	37	5	35740050	35740050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35740050G>A	uc003jjo.3	+	21	3204	c.3093G>A	c.(3091-3093)tgG>tgA	p.W1031*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.W517*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1031					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)			TACCTTACTGGGAACTAATAG	0.338000														31			16		0	0	0.000422831	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517304	158517304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:158517304C>T	uc003qqx.2	+	26	4505	c.4399C>T	c.(4399-4401)Cat>Tat	p.H1467Y	SYNJ2_uc003qqy.2_Missense_Mutation_p.H1230Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.H1084Y|SYNJ2_uc003qra.2_Missense_Mutation_p.H810Y	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1467							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACCAGATCATGAACACAA	0.527000														18			17		0	0	0.000958276	0	0
LRIG1	26018	broad.mit.edu	37	3	66457825	66457825	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:66457825G>A	uc003dmx.3	-	7	1040	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_5'Flank|LRIG1_uc010hnz.3_Silent_p.S82S|LRIG1_uc010hoa.3_Silent_p.S342S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	342						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)		TGTGGCTGATGGAATTGTGGC	0.592000														34			12		0	0	0.00244969	0	0
MYOM1	8736	broad.mit.edu	37	18	3131480	3131480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:3131480C>T	uc002klp.3	-	16	2733	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E	MYOM1_uc002klq.3_Missense_Mutation_p.G800E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	800	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						AGTCACTAATCCATGACAAGT	0.378000														37			22		0	0	0.000586117	0	0
TAGAP	117289	broad.mit.edu	37	6	159459245	159459245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159459245C>T	uc003qrz.3	-	8	1131	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	TAGAP_uc011eft.2_Missense_Mutation_p.E204K|TAGAP_uc003qsa.3_Missense_Mutation_p.E89K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATGAGGAATTCCACCAGTGTC	0.403000														29			26		0	0	0.000878237	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261508	54261508	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54261508G>A	uc021vax.1	+	0		c.23G>A								Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA.																		GTCTACAAAGGAAAGCGCTTT	0.408000														121			31		0	0	0.00058488	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71478832	71478832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:71478832G>A	uc004agu.3	+	4	454	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	PIP5K1B_uc011lrq.2_Missense_Mutation_p.R50Q|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	50	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGCCAGAACGAGATGTTCTT	0.403000														82			33		0	0	0.000692331	0	0
ATP1A2	477	broad.mit.edu	37	1	160105280	160105280	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160105280G>A	uc001fvc.3	+	15	2304	c.2172G>A	c.(2170-2172)aaG>aaA	p.K724K	ATP1A2_uc001fvb.2_Silent_p.K724K|ATP1A2_uc001fvd.3_Silent_p.K460K	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	724					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)			CATTGAAGAAGGCTGACATTG	0.582000														96			17		0	0	0.000958276	0	0
DSC2	1824	broad.mit.edu	37	18	28671000	28671000	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28671000G>A	uc002kwl.4	-	3	919	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DSC2_uc002kwk.4_Silent_p.F155F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	155	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCTGTTGAAGGAAAAGTGGAA	0.398000														26			10		0	0	0.000442599	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431165	8431165	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8431165A>T	uc002mjq.1	+	2	704	c.509A>T	c.(508-510)cAg>cTg	p.Q170L	ANGPTL4_uc002mjr.1_Missense_Mutation_p.Q170L|ANGPTL4_uc010xkc.1_Missense_Mutation_p.Q3L	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	170					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GAGATGGCCCAGCCAGTTGAC	0.642000														26			30		0	0	0.00178596	0	0
SP140L	93349	broad.mit.edu	37	2	231249953	231249953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231249953G>A	uc010fxm.1	+	8	809	c.718G>A	c.(718-720)Gat>Aat	p.D240N	SP140L_uc010fxo.1_Missense_Mutation_p.D47N	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	240						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CAGCAAAGCCGATGGCCAGCT	0.468000														52			19		0	0	0.00047179	0	0
PRDM9	56979	broad.mit.edu	37	5	23527808	23527808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:23527808G>A	uc003jgo.3	+	10	2793	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	871					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTAGCGATAGGTCAAG	0.547000										HNSCC(3;0.000094)				46			19		0	0	0.000958276	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189571	58189571	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58189571G>A	uc002qpu.3	+	4	1297	c.600G>A	c.(598-600)tcG>tcA	p.S200S		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	200					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		ACAGTTCTTCGAAAACTACTC	0.403000														36			20		0	0	0.00152264	0	0
LRP2	4036	broad.mit.edu	37	2	170050321	170050321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170050321C>T	uc002ues.3	-	46	8993	c.8780G>A	c.(8779-8781)gGt>gAt	p.G2927D		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2927	LDL-receptor class A 21.				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)	GTCATTATCACCGTCACAGAT	0.473000														107			25		0	0	0.00278032	0	0
DDX24	57062	broad.mit.edu	37	14	94545680	94545680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:94545680G>A	uc001ycj.3	-	1	508	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	DDX24_uc010twq.2_Missense_Mutation_p.P94S|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	137					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGCCTCCGGATCATCACAA	0.453000														103			31		0	0	0.00178596	0	0
MUC16	94025	broad.mit.edu	37	19	9067341	9067341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9067341G>A	uc002mkp.3	-	2	20309	c.20105C>T	c.(20104-20106)cCa>cTa	p.P6702L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6704	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						ATCAGGGCCTGGAATGGATGT	0.478000														154			37		0	0	0.00111076	0	0
KCNK10	54207	broad.mit.edu	37	14	88652317	88652317	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:88652317G>A	uc001xwm.3	-	6	1316	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	KCNK10_uc001xwn.3_Silent_p.S398S|KCNK10_uc001xwo.3_Silent_p.S393S	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	393					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						GCTTCTCGGGGGACAGCATGT	0.662000														74			24		0	0	0.000720815	0	0
ACVR2A	92	broad.mit.edu	37	2	148654035	148654035	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:148654035T>G	uc002twg.3	+	2	490	c.221T>G	c.(220-222)gTg>gGg	p.V74G	ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_Missense_Mutation_p.V74G	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	74					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.V74V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATTGAAATAGTGAAACAAGGT	0.378000														61			14		0	0	0.000422831	0	0
POTEG	404785	broad.mit.edu	37	14	19553578	19553578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:19553578G>A	uc001vuz.1	+	0	214	c.162G>A	c.(160-162)atG>atA	p.M54I	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	54								p.M54I(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATTCTGCTATGAAGACACTCA	0.617000														431			18		0	0	0.000692331	0	0
NT5E	4907	broad.mit.edu	37	6	86181079	86181079	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:86181079C>T	uc003pko.4	+	2	1243	c.687C>T	c.(685-687)atC>atT	p.I229I	NT5E_uc003pkn.3_Silent_p.I229I|NT5E_uc010kbr.3_Silent_p.I229I	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	229					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	p.I229I(2)|p.L228L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATAAACTCATCGCTCAGAAAG	0.408000														39			15		0	0	0.00121646	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687564	205687565	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205687564_205687565GG>TT	uc001hdb.3	-	6	846_847	c.575_576CC>AA	c.(574-576)ccc>cAA	p.P192Q		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	192	Lys-rich.					nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTGAAGCTGTGGGGCGACCCAC	0.441000														300			9		0	0	6.4e-05	0	0
GLI3	2737	broad.mit.edu	37	7	42004030	42004030	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:42004030G>A	uc011kbh.2	-	14	4732	c.4641C>T	c.(4639-4641)ttC>ttT	p.F1547F	GLI3_uc011kbg.2_Silent_p.F1488F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1547					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						ACAGCGCTGGGAATGGGAGGG	0.567000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					60			9		0	0	0.000673444	0	0
KRT82	3888	broad.mit.edu	37	12	52794341	52794341	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52794341C>G	uc001sai.1	-	3	862	c.747G>C	c.(745-747)gaG>gaC	p.E249D		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	249	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGAAGTCGATCTCCTGCACGA	0.592000														60			18		0	0	0.00188189	0	0
DNAH9	1770	broad.mit.edu	37	17	11726309	11726309	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:11726309G>A	uc002gne.3	+	47	9272	c.9204G>A	c.(9202-9204)cgG>cgA	p.R3068R	DNAH9_uc010coo.3_Silent_p.R2362R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3068	Stalk (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)		AGACAGAGCGGTTGGAGAACG	0.552000														0			21		0	0	0.00152264	0	0
GCA	25801	broad.mit.edu	37	2	163204218	163204219	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163204218_163204219CC>TT	uc002ucg.3	+	1	334_335	c.158_159CC>TT	c.(157-159)tcc>tTT	p.S53F		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	53	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GCTGGTGACTCCGTGTATACTT	0.421000														38			13		0	0	6.4e-05	0	0
ANKS6	203286	broad.mit.edu	37	9	101530400	101530400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101530400G>A	uc004ayu.3	-	10	2126	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	ANKS6_uc004ayv.2_Missense_Mutation_p.P164L|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P401L	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	702	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGAGGCTGGAAGCTCAGA	0.587000														16			15		0	0	0.00244969	0	0
ADAM19	8728	broad.mit.edu	37	5	156929909	156929909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156929909G>A	uc003lwz.3	-	11	1289	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	ADAM19_uc003lww.2_Missense_Mutation_p.L137F|ADAM19_uc003lwy.3_Missense_Mutation_p.L3F|ADAM19_uc011ddr.1_Missense_Mutation_p.L335F	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	404	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGTTGGAGAGACACATTCCA	0.547000														55			26		0	0	0.000878237	0	0
DMBT1	1755	broad.mit.edu	37	10	124358479	124358479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124358479G>A	uc001lgk.1	+	25	3252	c.3146G>A	c.(3145-3147)gGt>gAt	p.G1049D	DMBT1_uc001lgl.1_Missense_Mutation_p.G1039D|DMBT1_uc001lgm.1_Missense_Mutation_p.G550D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1049D|DMBT1_uc021qag.1_Missense_Mutation_p.G1039D|DMBT1_uc021qah.1_Missense_Mutation_p.G550D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1049D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G10D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1049	SRCR 8.				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)				GCCCGGTTTGGTCAGGGCTCA	0.597000														104			98		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	22	22749647	22749647	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:22749647C>T	uc021wml.1	+	56		c.6331C>T								Parts of antibodies, mostly variable regions.																		CAAACTGGTTCCAGCAGAAAC	0.567000														38			9		0	0	0.000274275	0	0
TIGD4	201798	broad.mit.edu	37	4	153690662	153690662	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:153690662A>T	uc003imy.3	-	1	2316	c.1495T>A	c.(1495-1497)Tta>Ata	p.L499I	TIGD4_uc021xtf.1_Missense_Mutation_p.L499I	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	499					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGGTCTGCTAAAGAATTTTGA	0.294000														35			14		0	0	0.00244969	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216247	140216247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140216247C>T	uc003lhq.2	+	0	2279	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	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_uc011dac.2_Missense_Mutation_p.S760F	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	797					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)			AGGGTGTGCTCTGGGGAGGGC	0.572000														22			13		0	0	0.00136819	0	0
ACTC1	70	broad.mit.edu	37	15	35083467	35083467	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:35083467T>G	uc001ziu.1	-	5	1081	c.838A>C	c.(838-840)Act>Cct	p.T280P	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	280					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding	p.T279T(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTATTGTAAGTTGTTTCATGG	0.463000														54			41		0	0	0.00148497	0	0
CD1D	912	broad.mit.edu	37	1	158152903	158152903	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158152903G>A	uc001frr.3	+	4	1342	c.843G>A	c.(841-843)gtG>gtA	p.V281V	CD1D_uc009wss.3_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	281	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTGTCGGGTGAAGCACAGCA	0.602000														74			22		0	0	0.000720815	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451411	19451411	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:19451411C>T	uc002gvx.3	+	3	506	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.I140I|SLC47A1_uc010vyz.1_Silent_p.I117I|SLC47A1_uc010cqp.1_Silent_p.I140I|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	140						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCCAGCACATCCTGCTGCTCT	0.597000														9			14		0	0	0.000308642	0	0
CRB1	23418	broad.mit.edu	37	1	197297974	197297974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:197297974G>A	uc001gtz.3	+	1	702	c.493G>A	c.(493-495)Gat>Aat	p.D165N	CRB1_uc010poz.2_Missense_Mutation_p.D96N|CRB1_uc001gty.2_Missense_Mutation_p.D165N|CRB1_uc009wza.3_Missense_Mutation_p.D165N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D165N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	165	EGF-like 4; calcium-binding (Potential).				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						CGTGTGCCAGGATGGAATTGA	0.512000														36			6		0	0	0.00116845	0	0
MYO1H	283446	broad.mit.edu	37	12	109834264	109834264	+	Silent	SNP	G	A	A	rs142805645	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109834264G>A	uc010sxn.1	+	2	318	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTCTGGAGAGAGTGGGGCAG	0.488000														28			14		0	0	0.000308642	0	0
FAM21B	55747	broad.mit.edu	37	10	47915888	47915888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:47915888C>T	uc009xni.3	+	14	1295	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	FAM21B_uc001jep.4_Missense_Mutation_p.S327F	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	432					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTTACCTTATCTTCCAGCAAA	0.408000														74			22		0	0	0.00178596	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939406	43939406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:43939406C>T	uc010yny.2	+	14	2427	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P781S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	782	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCAGATTCTCCCAATATATT	0.418000														429			107		0	0	0.000781405	0	0
MYO5C	55930	broad.mit.edu	37	15	52531999	52531999	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:52531999G>A	uc010bff.3	-	20	2796	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	878	IQ 5.					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)		CGAATCGTCGGATACTCTGGA	0.438000														25			21		0	0	0.00152264	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719394	162719394	+	Silent	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:162719394T>A	uc002ubx.4	+	5	772	c.588T>A	c.(586-588)ctT>ctA	p.L196L	SLC4A10_uc010fpa.1_Silent_p.L208L|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.L207L|SLC4A10_uc002uby.4_Silent_p.L196L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	196					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATATGGTTCTTGACCAACAAG	0.458000														14			8		0	0	0.000442599	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091442	17091442	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17091442G>A	uc002nfb.3	-	13	1623	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	484						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						TCGTAGTACAGGGTAAAGTTG	0.592000														55			45		0	0	0.000781405	0	0
SLIT3	6586	broad.mit.edu	37	5	168199797	168199797	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168199797A>G	uc010jjg.3	-	13	1868	c.1448T>C	c.(1447-1449)tTc>tCc	p.F483S	SLIT3_uc003mab.3_Missense_Mutation_p.F483S|SLIT3_uc010jji.2_Missense_Mutation_p.F483S|SLIT3_uc003mac.1_Missense_Mutation_p.F280S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	483	LRRCT 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)			TGAGCAGCGGAACTTCTTGCT	0.607000														37			14		0	0	0.000566183	0	0
SPTBN1	6711	broad.mit.edu	37	2	54845318	54845318	+	Silent	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:54845318T>C	uc002rxu.3	+	6	1000	c.751T>C	c.(751-753)Ttg>Ctg	p.L251L	SPTBN1_uc002rxv.1_Silent_p.L251L|SPTBN1_uc002rxx.3_Silent_p.L238L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	251	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACTAAACTGTTGGACCCCGA	0.428000														41			17		0	0	0.000958276	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137564	40137564	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:40137564C>T	uc021qgf.1	-	0	279	c.279G>A	c.(277-279)gtG>gtA	p.V93V	LRRC4C_uc001mxc.1_Silent_p.V89V|LRRC4C_uc001mxd.1_Silent_p.V89V|LRRC4C_uc001mxa.1_Silent_p.V93V|LRRC4C_uc001mxb.1_Silent_p.V89V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	93					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)				TGAAGCTGTTCACTTTGATGA	0.468000														35			30		0	0	0.00283554	0	0
PTGS1	5742	broad.mit.edu	37	9	125140279	125140280	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125140279_125140280CC>TT	uc004bmg.1	+	2	331_332	c.196_197CC>TT	c.(196-198)ccc>TTc	p.P66F	PTGS1_uc011lys.1_Missense_Mutation_p.P41F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.P66F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	66	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CTATTCCGGCCCCAACTGCACC	0.609000														66			14		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13845071	13845071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13845071G>A	uc003jfd.2	-	31	5188	c.5146C>T	c.(5146-5148)Cgg>Tgg	p.R1716W		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1716	Stem (By similarity).		R -> L (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1716L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443000									Kartagener syndrome					25			17		0	0	0.000566183	0	0
C5orf25	375484	broad.mit.edu	37	5	177054540	177054540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:177054540G>A	uc011dgc.2	-	1	333	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	C5orf25_uc011dgb.1_Non-coding_Transcript	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	484												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GTCCCCAGGGGAAAATTCTCT	0.418000														33			48		0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17452451	17452451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17452451G>A	uc001mnc.3	-	11	1853	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	ABCC8_uc010rcy.1_Missense_Mutation_p.A575V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	576	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAGGCAAAGGCCACGGAGGG	0.597000														187			149		0	0	0.000781405	0	0
WDR69	164781	broad.mit.edu	37	2	228758545	228758545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228758545C>T	uc002vpn.1	+	4	431	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	WDR69_uc010zlw.1_Missense_Mutation_p.L103F|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	118										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)		GACGTGCAAGCTCTGGGACAC	0.468000														60			12		0	0	0.00244969	0	0
CACNA1B	774	broad.mit.edu	37	9	141010018	141010018	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:141010018C>T	uc004cog.3	+	40	5803	c.5658C>T	c.(5656-5658)tcC>tcT	p.S1886S	CACNA1B_uc022bqn.1_Silent_p.S1886S|CACNA1B_uc004coi.3_Silent_p.S1100S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1888					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTGTGTCCCTGTTCCACC	0.602000														84			58		0	0	0.000781405	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324609	79324609	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:79324609G>A	uc002beq.3	-	6	1383	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RASGRF1_uc002bep.3_Silent_p.F336F|RASGRF1_uc010blm.1_Silent_p.F258F|RASGRF1_uc002ber.4_Silent_p.F336F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	336	DH.				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						GGTTGCGGACGAACTCTTGGT	0.587000														28			18		0	0	0.00188189	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190707	209190707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:209190707C>T	uc002vcz.3	+	19	3330	c.3172C>T	c.(3172-3174)Cca>Tca	p.P1058S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P739S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1002S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1058					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGTATCTCCCCAGTAATCAC	0.408000														54			42		0	0	0.00222228	0	0
BRMS1L	84312	broad.mit.edu	37	14	36300622	36300622	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:36300622A>G	uc001wtl.3	+	1	275	c.149A>G	c.(148-150)gAt>gGt	p.D50G	BRMS1L_uc010tpx.1_Missense_Mutation_p.D2G	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	50					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.M49I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ACAGAAATGGATGATGAAGAC	0.284000														57			21		0	0	0.00188189	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														1			10		0	0	0.000673444	0	0
FBN3	84467	broad.mit.edu	37	19	8188870	8188870	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8188870G>A	uc002mjf.3	-	21	2771	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	918	TB 5.					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						CCCATCGCAGGAAACATGGTT	0.637000														23			7		0	0	0.00198382	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536039	31536039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31536039C>T	uc003aka.3	-	0	431	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	101					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CAGCTCGGGTCCGGGGGTGTG	0.632000														11			62		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179640734	179640734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179640734C>T	uc021vsy.1	-	27	6082	c.5857G>A	c.(5857-5859)Gaa>Aaa	p.E1953K	TTN_uc021vsz.1_Missense_Mutation_p.E1907K|TTN_uc021vta.1_Missense_Mutation_p.E1907K|TTN_uc021vtb.1_Missense_Mutation_p.E1907K|TTN_uc002unb.2_Missense_Mutation_p.E1953K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1953							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)			TTTCCTGGTTCATGTACGTGA	0.418000														81			52		0	0	0.000781405	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	C	C	rs77581903		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000														36			5		0	0	0.000157383	0	0
PXDNL	137902	broad.mit.edu	37	8	52384783	52384783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:52384783C>T	uc003xqu.4	-	7	877	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	259	Ig-like C2-type 1.				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)				TTTGGGGTTTCCTTCCGCCCG	0.443000														78			19		0	0	0.00188189	0	0
ACMSD	130013	broad.mit.edu	37	2	135621140	135621140	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:135621140A>T	uc002ttz.3	+	4	492	c.425A>T	c.(424-426)cAa>cTa	p.Q142L	ACMSD_uc002tua.3_Missense_Mutation_p.Q84L	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	142					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCCGGGGTCCAAATTGGCACC	0.637000														26			19		0	0	0.00188189	0	0
DSC3	1825	broad.mit.edu	37	18	28602348	28602348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28602348G>A	uc002kwj.4	-	6	1051	c.896C>T	c.(895-897)cCc>cTc	p.P299L	DSC3_uc002kwi.4_Missense_Mutation_p.P299L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	299	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCTGTGCTGGGATGCACAGA	0.493000														63			14		0	0	0.000308642	0	0
LMBR1	64327	broad.mit.edu	37	7	156619310	156619310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:156619310G>A	uc010lqn.3	-	3	523	c.308C>T	c.(307-309)tCc>tTc	p.S103F	LMBR1_uc003wmw.4_Missense_Mutation_p.S103F|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Missense_Mutation_p.S82F	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	103						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ATGAATCAGGGAGCCATTTAG	0.323000														8			3		0	0	6.4e-05	0	0
THEG	51298	broad.mit.edu	37	19	374006	374006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:374006C>T	uc002lol.3	-	2	480	c.437G>A	c.(436-438)gGa>gAa	p.G146E	THEG_uc002lom.3_Intron	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	146					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)		ACCACAGCGTCCCTTCCTGCG	0.607000														6			13		0	0	0.000308642	0	0
DFNA5	1687	broad.mit.edu	37	7	24749959	24749959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:24749959C>T	uc010kus.1	-	5	834	c.746G>A	c.(745-747)aGa>aAa	p.R249K	DFNA5_uc003sxa.1_Missense_Mutation_p.R249K|DFNA5_uc010kut.1_Missense_Mutation_p.R85K	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	249					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGTCAATTCTCTTCTTGTT	0.488000														113			31		0	0	0.00058488	0	0
HLA-C	3107	broad.mit.edu	37	6	31323340	31323340	+	Missense_Mutation	SNP	G	A	A	rs77659523		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31323340G>A	uc003nth.2	-	3	703	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Missense_Mutation_p.P96S|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	217	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCAGAGATGGGGTGGTGGGTC	0.582000														36			33		0	0	0.000953801	0	0
SFTPD	6441	broad.mit.edu	37	10	81701718	81701718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:81701718C>T	uc001kbh.3	-	4	585	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	181	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTGCTGCCCCTGTGTTTCC	0.652000														22			17		0	0	0.00188189	0	0
ATP13A1	57130	broad.mit.edu	37	19	19757947	19757947	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19757947G>A	uc002nnh.4	-	21	3124	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S	ATP13A1_uc002nne.3_Silent_p.S172S|ATP13A1_uc002nnf.4_Silent_p.S400S|ATP13A1_uc002nng.3_Silent_p.S914S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1032					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTTGGAACGGGAGATGAAGA	0.612000														62			14		0	0	0.000308642	0	0
UBLCP1	134510	broad.mit.edu	37	5	158699032	158699032	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:158699032C>T	uc003lxq.2	+	6	775	c.449_splice	c.e6-1	p.D150_splice		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	150	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTTTAGACCACAGGTCTT	0.303000														38			15		0	0	0.000308642	0	0
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142650939C>T	uc003wcb.3	-	8	1239	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557000														229			57		0	0	0.000781405	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	G	G	rs139954536	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000														39			6		0	0	0.00198382	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931860	109931860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:109931860C>T	uc004eou.4	-	8	1299	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CHRDL1_uc004eov.3_Missense_Mutation_p.G311E|CHRDL1_uc004eow.3_Missense_Mutation_p.G316E|CHRDL1_uc010nps.3_Missense_Mutation_p.G316E|CHRDL1_uc011mss.2_Missense_Mutation_p.G237E	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	310	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GCAGCATTTTCCGTCTATTTT	0.443000														54			48		0	0	0.000781405	0	0
TRIM71	131405	broad.mit.edu	37	3	32933286	32933286	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:32933286C>T	uc003cff.3	+	3	2653	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	864					multicellular organismal development	cytoplasm	zinc ion binding	p.R864Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCAACAATCGAATCCTCGT	0.517000														70			85		0	0	0.000781405	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586822	86586822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86586822G>A	uc004ang.4	-	10	1152	c.928C>T	c.(928-930)Cct>Tct	p.P310S	HNRNPK_uc011lsw.2_Missense_Mutation_p.P70S|HNRNPK_uc004and.4_Missense_Mutation_p.P70S|HNRNPK_uc004anf.4_Missense_Mutation_p.P310S|HNRNPK_uc004anh.4_Missense_Mutation_p.P286S|HNRNPK_uc011lsx.2_Missense_Mutation_p.P286S|HNRNPK_uc004anl.4_Missense_Mutation_p.P310S|HNRNPK_uc004anm.4_Missense_Mutation_p.P310S|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	310	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA 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|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGTGGTGGAGGAAGAGGAAGA	0.512000														114			28		0	0	0.00058488	0	0
PGBD5	79605	broad.mit.edu	37	1	230486707	230486707	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:230486707G>A	uc010pwb.2	-	2	708	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	228						integral to membrane		p.R227C(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCTCACCTGGATGATGAAGC	0.557000														97			28		0	0	0.00106085	0	0
OR4A15	81328	broad.mit.edu	37	11	55136139	55136139	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55136139G>A	uc010rif.2	+	0	780	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTTTGGAAGGGAAACGAAAAG	0.433000														11			16		0	0	0.000308642	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274210	10274210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10274210C>T	uc010uym.2	-	2	369	c.59G>A	c.(58-60)gGt>gAt	p.G20D	GRIN2A_uc002czo.4_Missense_Mutation_p.G20D|GRIN2A_uc002czr.4_Missense_Mutation_p.G20D|GRIN2A_uc010buk.3_Missense_Mutation_p.G20D	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	20					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.R19C(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)	CGGCGCCGGACCGCGCCAGAC	0.652000														31			7		0	0	0.00198382	0	0
CTNND2	1501	broad.mit.edu	37	5	10981885	10981885	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:10981885C>T	uc003jfa.1	-	21	3562	c.3417_splice	c.e21+1	p.Q1139_splice	CTNND2_uc010itt.2_Splice_Site_p.Q1048_splice|CTNND2_uc011cmy.1_Splice_Site_p.Q802_splice|CTNND2_uc011cmz.1_Splice_Site_p.Q706_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.Q731_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1139					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q1139H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTACTTTACCTGGTTGTGTT	0.338000														81			35		0	0	0.00111076	0	0
SIX2	10736	broad.mit.edu	37	2	45235880	45235880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:45235880C>T	uc002ruo.3	-	0	663	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	124						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCTCCTCGCCGTCCCAGATG	0.657000														48			14		0	0	0.00244969	0	0
ARGFX	503582	broad.mit.edu	37	3	121305037	121305037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121305037C>T	uc003eef.3	+	4	633	c.538C>T	c.(538-540)Cca>Tca	p.P180S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGCTCCCTTCCATCTCAGCC	0.493000														89			39		0	0	0.0025221	0	0
SPN	6693	broad.mit.edu	37	16	29675288	29675288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:29675288C>T	uc021tgd.1	+	0	239	c.239C>T	c.(238-240)tCc>tTc	p.S80F	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.S80F|SPN_uc002dtn.3_Missense_Mutation_p.S80F	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	80					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTTTGGACTTCCATTGGTGCC	0.532000														53			61		0	0	0.000781405	0	0
NKD1	85407	broad.mit.edu	37	16	50667569	50667569	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50667569G>A	uc002egg.2	+	9	1514	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	430					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)		TGGGGCGGGAGCACCTGCGGG	0.667000														6			5		0	0	0.00116845	0	0
ANK3	288	broad.mit.edu	37	10	61941113	61941113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:61941113C>T	uc001jky.3	-	17	2496	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ANK3_uc010qih.2_Missense_Mutation_p.G703R|ANK3_uc001jkz.4_Missense_Mutation_p.G714R|ANK3_uc001jlb.1_Missense_Mutation_p.G249R|ANK3_uc001jlc.1_Missense_Mutation_p.G381R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	720					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						ACATGAGCCCCTTGGTTTACG	0.498000														71			44		0	0	0.000781405	0	0
SOX4	6659	broad.mit.edu	37	6	21596018	21596018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:21596018C>T	uc003ndi.3	+	0	2047	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	418					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGAGCATGTCCCTGGGCAGC	0.617000														40			13		0	0	0.000958276	0	0
RORB	6096	broad.mit.edu	37	9	77275628	77275628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:77275628G>A	uc004aji.3	+	4	815	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	RORB_uc004ajh.3_Missense_Mutation_p.E245K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	256	Ligand-binding (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						CCACACCTATGAAGAAATTAA	0.448000														48			36		0	0	0.00058488	0	0
PSPC1	55269	broad.mit.edu	37	13	20346608	20346608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:20346608G>A	uc021rgx.1	-	2	585	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	150	RRM 1.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding	p.R150L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GTAGCGAAGCGAATCCGTAGA	0.453000														37			24		0	0	0.00278032	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535487	171535487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171535487C>T	uc010pmg.2	+	20	6493	c.6227C>T	c.(6226-6228)tCt>tTt	p.S2076F	PRRC2C_uc010pmh.2_Missense_Mutation_p.S1053F|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2076							protein C-terminus binding										TCGGAAAAATCTGCTGACAAA	0.413000														7			16		0	0	0.000308642	0	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:153077667G>A	uc011dcy.2	+	8	1255	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	400					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)	AGCTGGGGGCGATAATTCAAG	0.478000														23			16		0	0	0.000566183	0	0
TPRX1	284355	broad.mit.edu	37	19	48305217	48305217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48305217G>A	uc002php.2	-	1	1191	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P351S(2)|p.P351T(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GTGAAGTGAGGGAATAACTGG	0.592000														62			41		0	0	0.0025221	0	0
CDH11	1009	broad.mit.edu	37	16	64984894	64984894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:64984894C>T	uc002eoi.3	-	11	2104	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.R557H|CDH11_uc010vin.2_Missense_Mutation_p.R431H	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	557	Cadherin 5.				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)		GAACCCTCCACGCCGGGCGTA	0.602000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				29			7		0	0	0.00198382	0	0
C17orf74	201243	broad.mit.edu	37	17	7329869	7329869	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7329869G>T	uc002ggw.3	+	2	632	c.559G>T	c.(559-561)Gag>Tag	p.E187*	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	187						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTACCTGGAGGAGGAGGACAA	0.587000														52			36		3.54909e-21	1.29942e-20	0.00285205	1	0
abParts	0	broad.mit.edu	37	14	107099192	107099192	+	RNA	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:107099192C>A	uc021ser.1	-	109		c.4882G>T								Parts of antibodies, mostly variable regions.																		TTTGCAGAGACAGTGAATTCT	0.498000														38			5		0.000274275	0.000995949	0.000274275	1	0
ATP4A	495	broad.mit.edu	37	19	36050865	36050865	+	Missense_Mutation	SNP	C	T	T	rs140861099		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:36050865C>T	uc002oal.1	-	6	927	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	300					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)	ACAAAATGCTCGATCTCGATA	0.582000														86			15		0	0	0.000566183	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1642939C>T	uc009ycy.1	-	1	367	c.280G>A	c.(280-282)Gga>Aga	p.G94R	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	189	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000														33			30		0	0	0.000953801	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940136	21940136	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21940136A>C	uc001bev.3	-	5	477	c.459T>G	c.(457-459)gtT>gtG	p.V153V	RAP1GAP_uc001bew.3_Silent_p.V217V|RAP1GAP_uc001bey.3_Silent_p.V153V|RAP1GAP_uc001bex.3_Silent_p.V153V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	153					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCATCTGGACAACATTAGGGA	0.602000														126			29		0	0	0.00209593	0	0
FBXO36	130888	broad.mit.edu	37	2	230861576	230861576	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:230861576C>T	uc010fxi.1	+	2	338	c.315C>T	c.(313-315)atC>atT	p.I105I	FBXO36_uc002vqa.3_Silent_p.I105I|FBXO36_uc002vqb.3_Silent_p.I74I	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	105	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTGACTATCATTTCTTATC	0.348000														96			99		0	0	0.000781405	0	0
LAMC1	3915	broad.mit.edu	37	1	183093967	183093967	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:183093967T>G	uc001gpy.4	+	13	2860	c.2603T>G	c.(2602-2604)tTt>tGt	p.F868C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	868	Laminin EGF-like 8.				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)	AAAGACGGATTTTTTGGAAAT	0.453000														46			29		0	0	0.001512	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560008	44560008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44560008G>A	uc002lcr.1	-	0	1981	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	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.	543	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						GTCGCTGAGGGCGTCCGGATT	0.607000														56			91		0	0	0.000781405	0	0
SYT1	6857	broad.mit.edu	37	12	79693175	79693175	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:79693175G>A	uc001sys.3	+	8	1325	c.654G>A	c.(652-654)tcG>tcA	p.S218S	SYT1_uc001syt.3_Silent_p.S218S|SYT1_uc001syu.3_Silent_p.S215S|SYT1_uc001syv.3_Silent_p.S218S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	218	C2 1.|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						TACCATACTCGGAATTGGGTG	0.348000														45			20		0	0	0.00278032	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	163					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)		GTTTGTTTTTCCTGAGACCCT	0.433000														45			6		0	0	0.00116845	0	0
EFCAB6	64800	broad.mit.edu	37	22	44074038	44074038	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:44074038G>A	uc003bdy.2	-	12	1571	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	EFCAB6_uc003bdz.2_Silent_p.P267P|EFCAB6_uc010gzi.2_Silent_p.P267P|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.P240L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	419	EF-hand 4.				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)				TCGGTCCATCGGGTTTCTGAG	0.318000														71			21		0	0	0.00152264	0	0
CNTN4	152330	broad.mit.edu	37	3	2942488	2942488	+	Missense_Mutation	SNP	G	A	A	rs145270510	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:2942488G>A	uc003bpc.3	+	10	1399	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNTN4_uc003bpb.1_Missense_Mutation_p.E26K|CNTN4_uc021wsg.1_Missense_Mutation_p.E354K|CNTN4_uc003bpd.1_Missense_Mutation_p.E354K|CNTN4_uc003bpe.3_Missense_Mutation_p.E26K|CNTN4_uc003bpf.3_Missense_Mutation_p.E26K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	354	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)		AAAAAATGGCGAACCTCTGCT	0.398000														55			14		0	0	0.00244969	0	0
DSC1	1823	broad.mit.edu	37	18	28719849	28719849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28719849G>A	uc002kwn.3	-	10	1787	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	DSC1_uc002kwm.3_Nonsense_Mutation_p.Q509*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	509	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTAACTTCTGATACCTAATT	0.294000														35			5		0	0	0.00116845	0	0
ARNTL	406	broad.mit.edu	37	11	13387074	13387075	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:13387074_13387075GG>AA	uc001mkr.3	+	9	895_896	c.487_488GG>AA	c.(487-489)gga>AAa	p.G163K	ARNTL_uc001mko.3_Missense_Mutation_p.G120K|ARNTL_uc001mkp.3_Missense_Mutation_p.G163K|ARNTL_uc001mkq.3_Missense_Mutation_p.G163K|ARNTL_uc001mks.3_Missense_Mutation_p.G120K|ARNTL_uc001mkt.3_Missense_Mutation_p.G163K|ARNTL_uc009ygm.1_Missense_Mutation_p.G120K|ARNTL_uc001mkv.1_Missense_Mutation_p.G120K|ARNTL_uc001mkw.3_Missense_Mutation_p.G120K|ARNTL_uc001mkx.3_Missense_Mutation_p.G161K	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	163	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GTTTGTCGTAGGATGTGACCGA	0.416000														23			20		0	0	6.4e-05	0	0
PKD1L2	114780	broad.mit.edu	37	16	81151065	81151065	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:81151065G>A	uc002fgh.1	-	40	6678	c.6678C>T	c.(6676-6678)atC>atT	p.I2226I	PKD1L2_uc002fgf.1_Silent_p.I28I|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.	2228					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						AGCTGGCCAGGATGATGGCCA	0.612000														66			27		0	0	0.00209593	0	0
DOCK3	1795	broad.mit.edu	37	3	51297624	51297624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:51297624G>A	uc011bds.2	+	22	2245	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	741						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)		GTACAGTCACGGATCCTGTAC	0.458000														36			5		0	0	0.00116845	0	0
OR51G2	81282	broad.mit.edu	37	11	4936407	4936407	+	Missense_Mutation	SNP	G	A	A	rs35090253		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:4936407G>A	uc001lzr.1	-	0	487	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P163fs*27(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		AAAGGTAATGGAAAAATGAGT	0.473000														10			8		0	0	0.000274275	0	0
TRIP13	9319	broad.mit.edu	37	5	900650	900650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:900650G>A	uc003jbr.3	+	3	575	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	TRIP13_uc010ite.2_Missense_Mutation_p.E144K	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	144					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATACGATGTGGAAGTCAAATC	0.458000														22			35		0	0	0.00111076	0	0
APOL5	80831	broad.mit.edu	37	22	36122392	36122392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36122392G>A	uc003aof.3	+	2	277	c.277G>A	c.(277-279)Gga>Aga	p.G93R		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	93					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CATGCCAGATGGAAATCTGTC	0.413000														125			37		0	0	0.000953801	0	0
RNF44	22838	broad.mit.edu	37	5	175958571	175958571	+	Missense_Mutation	SNP	G	A	A	rs144164161		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:175958571G>A	uc003mek.1	-	3	883	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	RNF44_uc011dfo.1_Missense_Mutation_p.P28S|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	120	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGCAAGGGGAAGCCTTGG	0.612000														19			7		0	0	0.000274275	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677759	25677759	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:25677759C>T	uc003grr.3	+	12	1542	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	SLC34A2_uc003grs.3_Silent_p.I486I|SLC34A2_uc010iev.3_Silent_p.I486I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	487					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)				TGTTGCAGATCGCCCTGTGCC	0.602000			T	ROS1	NSCLC									14			7		0	0	0.000157383	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873632	48873632	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48873632G>A	uc002rwp.2	+	7	2655	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E	STON1-GTF2A1L_uc021vhf.1_Silent_p.E847E|STON1-GTF2A1L_uc010yol.2_Silent_p.E800E|STON1-GTF2A1L_uc002rws.2_Silent_p.E143E|STON1-GTF2A1L_uc010yom.2_Silent_p.E109E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	800					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.E847E(2)		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)			TGGTGACAGAGACTTCTGGAA	0.353000														50			35		0	0	0.00128727	0	0
OR4M1	441670	broad.mit.edu	37	14	20249099	20249099	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20249099C>T	uc010tku.2	+	0	618	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	206					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)		GTGGTCTGATCTCTGTGGTGT	0.473000														117			29		0	0	0.00209593	0	0
BSND	7809	broad.mit.edu	37	1	55474182	55474182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:55474182G>A	uc001cye.3	+	3	1087	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	282						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGGCTTCGGACACAGGTGG	0.597000														23			36		0	0	0.00283554	0	0
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105771585C>T	uc003prc.3	-	9	1505	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418000														19			17		0	0	0.00229938	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831670	24831670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24831670G>A	uc001iru.4	+	17	3986	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Missense_Mutation_p.E1159K|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.E878K|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E878K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E31K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1195					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						TGTTGAATATGAAAATGGCCC	0.423000														19			21		0	0	0.00229938	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140196	3140196	+	Silent	SNP	G	A	A	rs140343297		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:3140196G>A	uc002ctv.1	-	4	1162	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	ZSCAN10_uc002cty.1_Silent_p.F19F|ZSCAN10_uc002ctw.1_Silent_p.F276F|ZSCAN10_uc002ctx.1_Silent_p.F286F	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	358					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						AGCTCTGGCGGAAGCGGTGGC	0.701000														92			29		0	0	0.00283554	0	0
LCE2C	353140	broad.mit.edu	37	1	152648570	152648570	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152648570A>G	uc021ozc.1	+	0	79	c.79A>G	c.(79-81)Aag>Gag	p.K27E	LCE2C_uc001fah.3_Missense_Mutation_p.K27E	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	27	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			atgtccacctaagtgtccccc	0.582000														76			36		0	0	0.000814825	0	0
PEG3	5178	broad.mit.edu	37	19	57326440	57326440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57326440C>T	uc002qnu.2	-	6	3721	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N	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.D1095N|PEG3_uc002qnv.2_Missense_Mutation_p.D1124N|PEG3_uc002qnw.2_Missense_Mutation_p.D1000N|PEG3_uc002qnx.2_Missense_Mutation_p.D998N|PEG3_uc010etr.2_Missense_Mutation_p.D1124N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1124					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1123I(1)		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)		TTCTGATGGTCTGTGAGGTCT	0.488000														89			52		0	0	0.000781405	0	0
FCRL3	115352	broad.mit.edu	37	1	157665383	157665383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:157665383G>A	uc001fqz.4	-	7	1439	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	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_Missense_Mutation_p.P109S|FCRL3_uc001frb.3_Missense_Mutation_p.P383S|FCRL3_uc001frc.1_Missense_Mutation_p.P383S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	383	Ig-like C2-type 5.					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)					GTGAGGACAGGGTGAGATACC	0.572000														53			14		0	0	0.000422831	0	0
MLL3	58508	broad.mit.edu	37	7	151884350	151884350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:151884350G>A	uc003wla.3	-	32	5224	c.5005C>T	c.(5005-5007)Cct>Tct	p.P1669S	MLL3_uc003wkz.3_Missense_Mutation_p.P730S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1669					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCTTACCAGGGAATTCTTCC	0.368000			N		medulloblastoma									78			14		0	0	0.000422831	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820177	50820177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:50820177C>T	uc001jhw.3	+	0	1831	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	464					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCTATGCTCCCGTCTTGCTG	0.642000														39			10		0	0	0.000442599	0	0
WDR75	84128	broad.mit.edu	37	2	190324142	190324142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:190324142C>T	uc002uql.1	+	7	830	c.770C>T	c.(769-771)tCa>tTa	p.S257L	WDR75_uc002uqm.1_Missense_Mutation_p.S193L|WDR75_uc002uqn.1_Missense_Mutation_p.S35L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	257						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGGCTTTTTCAGTGACAGGT	0.294000														93			22		0	0	0.000586117	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909135	101909135	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:101909135C>T	uc010nod.3	+	2	936	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.P98P|GPRASP1_uc004ejj.4_Silent_p.P98P|GPRASP1_uc004eji.4_Silent_p.P98P|GPRASP1_uc022cbd.1_Silent_p.P98P	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	98						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTCAGCCCAGGTTTGGTG	0.478000														6			125		0	0	0.000781405	0	0
GRK4	2868	broad.mit.edu	37	4	3015443	3015443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:3015443G>A	uc003ggn.1	+	7	1084	c.629G>A	c.(628-630)gGa>gAa	p.G210E	GRK4_uc003ggo.1_Missense_Mutation_p.G210E|GRK4_uc003ggp.1_Missense_Mutation_p.G178E|GRK4_uc003ggq.1_Missense_Mutation_p.G178E	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	210	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAGCCACAGGAAAAATGTAT	0.398000														174			64		0	0	0.000781405	0	0
EXD3	54932	broad.mit.edu	37	9	140245817	140245817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140245817G>A	uc004cmp.2	-	12	1533	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	EXD3_uc010ncf.1_Missense_Mutation_p.S126F|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	446					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						CACCAGCCGGGAAAAGGCCTG	0.672000														26			11		0	0	0.00185496	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004490	41004490	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41004490G>A	uc003jmj.4	-	36	4642	c.4152C>T	c.(4150-4152)taC>taT	p.Y1384Y	HEATR7B2_uc003jmi.4_Silent_p.Y939Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1384							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						TTTCCTTGAAGTAGAAGCTCA	0.468000														54			74		0	0	0.000781405	0	0
DYX1C1	161582	broad.mit.edu	37	15	55789929	55789929	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:55789929C>T	uc002adc.3	-	2	620	c.252G>A	c.(250-252)gaG>gaA	p.E84E	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.E84E|DYX1C1_uc002add.3_Silent_p.E84E	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	84	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGAAAGGGTCTCCCACATGG	0.393000														71			25		0	0	0.00127121	0	0
MAG	4099	broad.mit.edu	37	19	35801058	35801058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:35801058G>A	uc002nyy.2	+	7	1711	c.1513G>A	c.(1513-1515)Gga>Aga	p.G505R	MAG_uc002nyx.2_Missense_Mutation_p.G505R|MAG_uc010eds.2_Missense_Mutation_p.G480R|MAG_uc002nyz.2_Missense_Mutation_p.G505R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	505	Ig-like C2-type 4.				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)			GCCCTTCCAGGGAGCCCGTGA	0.677000														21			23		0	0	0.00278032	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886032	88886032	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:88886032C>T	uc003ydz.3	-	0	265	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	56								p.R56S(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						GGACCTTTTTCCTCTGCATGC	0.502000														49			29		0	0	0.001512	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506404	20506404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:20506404G>A	uc001iqg.1	+	10	1809	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	PLXDC2_uc001iqh.1_Missense_Mutation_p.R342Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	391	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTCTTCTCGAACCACCACA	0.443000														11			5		0	0	0.00198382	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755310	140755310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140755310G>A	uc003ljy.2	+	0	1660	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.D554N	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	556	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGTGCTGGACCAGAATGA	0.637000														96			30		0	0	0.00283554	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					48			20		0	0	0.00278032	0	0
DOCK3	1795	broad.mit.edu	37	3	51394464	51394464	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:51394464C>T	uc011bds.2	+	43	4598	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1525	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)		GCTCCCTGATCAGCCAGTATC	0.522000														37			35		0	0	0.00283554	0	0
CNGA2	1260	broad.mit.edu	37	X	150912180	150912180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:150912180G>A	uc004fey.1	+	6	1429	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	402					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)					CGAAAGGTCAGCAAGGGGATG	0.498000														34			29		0	0	0.00178596	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961290	51961290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51961290C>T	uc002pwt.3	-	0	419	c.352G>A	c.(352-354)Gat>Aat	p.D118N	SIGLEC8_uc010yda.2_Missense_Mutation_p.D118N|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D118N	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	118	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACCCCTTATCCCTCTTCCTG	0.488000														90			78		0	0	0.000781405	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745844	37745844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37745844C>T	uc004aag.1	+	15	3859	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	FRMPD1_uc004aah.1_Missense_Mutation_p.S1272L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1272						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTAGAAACTTCAAACCATTGC	0.488000														98			25		0	0	0.000586117	0	0
SYT6	148281	broad.mit.edu	37	1	114680414	114680414	+	Silent	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:114680414G>C	uc021osa.1	-	2	852	c.774C>G	c.(772-774)gcC>gcG	p.A258A	SYT6_uc021orz.1_Silent_p.A173A|SYT6_uc001eev.3_Silent_p.A173A	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	258	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		AAAAGTCCTTGGCAGGGAGGT	0.552000														177			30		0	0	0.001512	0	0
FBRS	64319	broad.mit.edu	37	16	30680789	30680789	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30680789C>T	uc002dzd.4	+	11	1469	c.1206C>T	c.(1204-1206)caC>caT	p.H402H	FBRS_uc002dzc.4_Silent_p.H314H	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	402	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACCTGCTCACCCCTTGCTCT	0.687000														119			35		0	0	0.00128727	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028057	59028057	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:59028057G>A	uc002qtd.3	-	1	1276	c.984C>T	c.(982-984)ccC>ccT	p.P328P	ZBTB45_uc002qtf.3_Silent_p.P328P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	328	Pro-rich.				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)		AGAGTGCAACGGGCGGCCCTG	0.692000														21			7		0	0	0.000157383	0	0
HEATR2	54919	broad.mit.edu	37	7	813754	813754	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:813754G>A	uc010krz.1	+	9	2021	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	HEATR2_uc003siz.2_Silent_p.G535G|HEATR2_uc003sjb.2_Silent_p.G47G|HEATR2_uc003sjc.2_Silent_p.G92G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	667							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGCATGCGGGGAGGACAGCCG	0.667000														61			43		0	0	0.000680045	0	0
SIRPG	55423	broad.mit.edu	37	20	1617025	1617025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1617025C>T	uc002wfm.1	-	2	622	c.557G>A	c.(556-558)gGg>gAg	p.G186E	SIRPG_uc002wfn.1_Missense_Mutation_p.G186E|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCTCATTCCCATTTTTGAA	0.577000														59			26		0	0	0.00106085	0	0
IKZF2	22807	broad.mit.edu	37	2	213872633	213872633	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:213872633G>A	uc002vem.3	-	7	1201	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	IKZF2_uc010fuu.3_Silent_p.I199I|IKZF2_uc002vej.3_Silent_p.I291I|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.I270I|IKZF2_uc002vel.3_Silent_p.I265I|IKZF2_uc010fuw.3_Silent_p.I118I|IKZF2_uc010fux.3_Silent_p.I118I|IKZF2_uc010fuy.3_Silent_p.I272I|IKZF2_uc002ven.3_Silent_p.I318I|IKZF2_uc002vei.3_Silent_p.I122I	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCACTTCAGCGATTGTGCTTG	0.478000														18			6		0	0	0.000157383	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321591	79321591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:79321591G>A	uc010mpk.3	-	7	5723	c.5599C>T	c.(5599-5601)Ccc>Tcc	p.P1867S	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1689S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1867					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCCCAGGGACTGGCATTT	0.463000														10			21		0	0	0.00152264	0	0
FLG	2312	broad.mit.edu	37	1	152276668	152276668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152276668C>T	uc001ezu.1	-	2	10730	c.10694G>A	c.(10693-10695)gGa>gAa	p.G3565E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3565	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)			CTGAGCAGATCCACGATGGTT	0.567000									Ichthyosis					320			56		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196741308	196741308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196741308C>T	uc002utj.4	-	36	6178	c.6077G>A	c.(6076-6078)aGa>aAa	p.R2026K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2026	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						TCCCTTTCTTCTCTTGTCCAA	0.398000														44			35		0	0	0.00128727	0	0
TCF4	6925	broad.mit.edu	37	18	52946885	52946885	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52946885G>A	uc002lga.3	-	9	918	c.858C>T	c.(856-858)gtC>gtT	p.V286V	TCF4_uc021ukg.1_Silent_p.V24V|TCF4_uc021ukh.1_Silent_p.V24V|TCF4_uc002lfw.4_Silent_p.V24V|TCF4_uc010xdu.1_Silent_p.V54V|TCF4_uc010xdv.1_Silent_p.V54V|TCF4_uc021uki.1_Silent_p.V113V|TCF4_uc002lfx.2_Silent_p.V113V|TCF4_uc010xdw.1_Silent_p.V54V|TCF4_uc002lfy.2_Silent_p.V142V|TCF4_uc010xdx.1_Silent_p.V160V|TCF4_uc021ukj.1_Silent_p.V124V|TCF4_uc021ukk.1_Silent_p.V124V|TCF4_uc021ukl.1_Silent_p.V182V|TCF4_uc002lfz.2_Silent_p.V184V|TCF4_uc010dph.1_Silent_p.V184V|TCF4_uc010dpi.3_Silent_p.V190V|TCF4_uc010xdy.1_Silent_p.V160V|TCF4_uc002lgc.4_Silent_p.V105V|TCF4_uc021ukm.1_Missense_Mutation_p.S69F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	184					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)		ATGGAGCATAGACCTGAGGAG	0.478000														79			15		0	0	0.000422831	0	0
PRDM9	56979	broad.mit.edu	37	5	23524458	23524459	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:23524458_23524459CC>TT	uc003jgo.3	+	9	1148_1149	c.966_967CC>TT	c.(964-969)gcccgg>gcTTgg	p.R323W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	323	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R323W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGAACTGTGCCCGGGATGATGA	0.540000										HNSCC(3;0.000094)				36			11		0	0	6.4e-05	0	0
GLB1L2	89944	broad.mit.edu	37	11	134228965	134228965	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:134228965C>T	uc001qhp.3	+	6	851	c.663C>T	c.(661-663)gaC>gaT	p.D221D	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	221					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)		CACTGGAGGACCGTGGCATTG	0.582000														43			26		0	0	0.00127121	0	0
GALNT14	79623	broad.mit.edu	37	2	31135209	31135209	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:31135209C>T	uc002rns.3	-	15	2036	c.1396_splice	c.e15-1	p.V466_splice	GALNT14_uc002rnq.3_Splice_Site_p.V441_splice|GALNT14_uc010ymr.2_Splice_Site_p.V426_splice|GALNT14_uc002rnr.3_Splice_Site_p.V461_splice	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	461	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGGCCCATACCTGGGGAGAAA	0.547000														83			16		0	0	0.000958276	0	0
ARGFX	503582	broad.mit.edu	37	3	121289614	121289614	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121289614G>A	uc003eef.3	+	1	149	c.54G>A	c.(52-54)agG>agA	p.R18R		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCATCAATAGGAATTATTCCA	0.463000														56			17		0	0	0.000958276	0	0
PRR16	51334	broad.mit.edu	37	5	120022262	120022262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:120022262C>T	uc003ksq.3	+	1	936	c.773C>T	c.(772-774)cCt>cTt	p.P258L	PRR16_uc003ksp.3_Missense_Mutation_p.P235L|PRR16_uc003ksr.3_Missense_Mutation_p.P188L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	258	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCCCATCTCCCTCCTTTCCCA	0.537000														7			9		0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	38960045	38960045	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38960045G>A	uc002oit.3	+	26	3787	c.3657G>A	c.(3655-3657)caG>caA	p.Q1219Q	RYR1_uc002oiu.3_Silent_p.Q1219Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1219	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1218I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGCCTCCAGGAAGGCTTCG	0.607000														142			29		0	0	0.0024448	0	0
ZNF419	79744	broad.mit.edu	37	19	58004510	58004510	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58004510C>T	uc010ety.1	+	4	828	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZNF419_uc002qov.2_Silent_p.A195A|ZNF419_uc010etz.1_Silent_p.A183A|ZNF419_uc002qow.2_Silent_p.A163A|ZNF419_uc010eua.1_Silent_p.A182A|ZNF419_uc010eub.1_Silent_p.A150A|ZNF419_uc010euc.1_Silent_p.A149A	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GTAGGGAGGCCTTTCATGCTG	0.483000														26			12		0	0	0.000978159	0	0
KIAA1109	84162	broad.mit.edu	37	4	123147970	123147970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123147970C>T	uc003ieh.3	+	21	2947	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	KIAA1109_uc003iei.1_Missense_Mutation_p.R721C|KIAA1109_uc010ins.1_Missense_Mutation_p.R311C|KIAA1109_uc003iej.1_3'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	968					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATTGATCGTCGGTTCTG	0.338000														34			36		0	0	0.000692331	0	0
AADACL2	344752	broad.mit.edu	37	3	151474812	151474812	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:151474812C>T	uc003ezc.3	+	4	756	c.636C>T	c.(634-636)atC>atT	p.I212I	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	212						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)			AACATAAAATCAAGATGCAAG	0.328000														22			20		0	0	0.00121646	0	0
LRRC33	375387	broad.mit.edu	37	3	196387578	196387578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:196387578C>T	uc003fwv.3	+	2	1168	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	355						integral to membrane		p.L354H(1)		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)		CCTTCCCTCTCCCACCTGAAC	0.602000														51			16		0	0	0.00074312	0	0
GPD1	2819	broad.mit.edu	37	12	50500608	50500608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:50500608G>A	uc001rvz.3	+	4	553	c.520G>A	c.(520-522)Gga>Aga	p.G174R	GPD1_uc001rwa.3_Missense_Mutation_p.G151R	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	174					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CCCGGCCCAGGGACAACTCCT	0.483000														38			16		0	0	0.00121646	0	0
FAM135B	51059	broad.mit.edu	37	8	139164728	139164728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139164728C>T	uc003yuy.3	-	12	2161	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	FAM135B_uc003yux.3_Missense_Mutation_p.E565K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E226K|FAM135B_uc003yvb.3_Missense_Mutation_p.E226K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	664										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)			TCCTGCTCTTCTGTGTGAGAG	0.507000										HNSCC(54;0.14)				74			19		0	0	0.00121646	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285015	42285016	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42285015_42285016GG>AA	uc021sjp.1	-	12	1389_1390	c.1389_1390CC>TT	c.(1387-1392)ctccgg>ctTTgg	p.R464W	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.R88W	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	452	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)		CTGCGCTGCCGGAGCTCCTCCT	0.579000														27			17		0	0	6.4e-05	0	0
MYH4	4622	broad.mit.edu	37	17	10364279	10364279	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10364279G>A	uc002gmn.3	-	11	1212	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	367	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						GCTTTTGCTTGAATTTCATGT	0.478000														37			23		0	0	0.000586117	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293800	67293800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67293800C>T	uc002esm.3	+	11	1856	c.1793C>T	c.(1792-1794)gCt>gTt	p.A598V	SLC9A5_uc010cee.3_Missense_Mutation_p.A303V|SLC9A5_uc010vji.2_Missense_Mutation_p.A102V|AK021876_uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	598					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGAGGATGCTGTGATGCAT	0.612000														11			20		0	0	0.00121646	0	0
RNF214	257160	broad.mit.edu	37	11	117105018	117105018	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:117105018G>A	uc001pqt.3	+	1	75	c.30G>A	c.(28-30)gtG>gtA	p.V10V	PCSK7_uc001pqr.3_5'Flank|RNF214_uc001pqu.3_Silent_p.V10V|RNF214_uc010rxf.2_Silent_p.V10V	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	10							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CTGGTGTTGTGGCCAATGCCC	0.458000														48			40		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179566258	179566258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179566258C>T	uc021vsy.1	-	106	27088	c.26863G>A	c.(26863-26865)Gaa>Aaa	p.E8955K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5616K|TTN_uc010fre.1_Missense_Mutation_p.E66K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9882	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTACCTTCTGGTGGCACT	0.458000														54			44		0	0	0.000781405	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067241	18067241	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:18067241G>A	uc003stz.3	-	0	246	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	55					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACTCTGAACGATGTAGACAT	0.493000														302			195		0	0	0.000781405	0	0
CRLF2	64109	broad.mit.edu	37	X	1327758	1327758	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:1327758G>A	uc004cpk.2	-	1	125	c.123C>T	c.(121-123)acC>acT	p.T41T	CRLF2_uc022brt.1_Silent_p.T41T|CRLF2_uc004cpl.2_Intron|CRLF2_uc022brs.1_Silent_p.T41T	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	41						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCACCTGCACGGTTTCTAAAT	0.478000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									109			81		0	0	0.000781405	0	0
SLC6A14	11254	broad.mit.edu	37	X	115588792	115588792	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115588792A>G	uc004eqi.3	+	12	1763	c.1632A>G	c.(1630-1632)tcA>tcG	p.S544S		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	544					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTATCTGGTCATTGGTGCAAT	0.368000														4			59		0	0	0.000781405	0	0
LRRC30	339291	broad.mit.edu	37	18	7231221	7231221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7231221C>T	uc010wzk.2	+	0	85	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	29										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGTTTTCTCCGTGGGACGA	0.607000														38			42		0	0	0.00170553	0	0
CAPN9	10753	broad.mit.edu	37	1	230883448	230883448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:230883448G>A	uc001htz.1	+	0	319	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	CAPN9_uc009xfg.1_Missense_Mutation_p.R69Q|CAPN9_uc001hua.1_Missense_Mutation_p.R69Q	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	69	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTGTGGAAACGACCAGGGGTG	0.622000														41			9		0	0	0.000442599	0	0
PPIA	5478	broad.mit.edu	37	7	44838999	44838999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:44838999C>T	uc003tlw.3	+	2	192	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript	NM_021130	NP_066953	P62937	PPIA_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA.	37	PPIase cyclophilin-type.				RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGAAAATTTTCGTGCTCTGAG	0.313000														142			31		0	0	0.00209593	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171831	104171831	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:104171831G>T	uc010swe.1	-	13	1464	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	475							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTTCCAAACTGGGCATTGAAG	0.453000														37			13		0.00244969	0.00883854	0.00244969	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961524	73961524	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73961524G>A	uc004eby.3	-	2	3485	c.2868C>T	c.(2866-2868)acC>acT	p.T956T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	956					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						ATGGGAGTTGGGTATCTTGCA	0.438000														5			49		0	0	0.000781405	0	0
XPO6	23214	broad.mit.edu	37	16	28167786	28167786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28167786G>A	uc002dpa.1	-	6	1207	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	XPO6_uc002dpb.1_Missense_Mutation_p.P222S|XPO6_uc010vcp.1_Missense_Mutation_p.P236S	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	236					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCAAGGATGGGAATTGGCTGA	0.473000														62			29		0	0	0.0024448	0	0
TRIM8	81603	broad.mit.edu	37	10	104416920	104416920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:104416920C>T	uc001kvz.2	+	5	1588	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	489						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCCTACCCCCGCTCCGGCCA	0.652000														14			8		0	0	0.000157383	0	0
DSTYK	25778	broad.mit.edu	37	1	205116758	205116758	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205116758G>A	uc001hbw.3	-	12	2782	c.2718C>T	c.(2716-2718)ctC>ctT	p.L906L	DSTYK_uc001hbx.3_Silent_p.L861L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	906	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGATGCCCTGGAGCATGGGCT	0.507000														168			54		0	0	0.000781405	0	0
ABCD1	215	broad.mit.edu	37	X	153001939	153001939	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153001939C>T	uc004fif.2	+	3	1764	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	455					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTGGTGTCCGTGTGGAGG	0.627000														16			17		0	0	0.00074312	0	0
OR6C76	390326	broad.mit.edu	37	12	55820117	55820117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55820117C>T	uc010spm.2	+	0	80	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	27					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						GTGATTTTCTCGTTCCTATTT	0.418000														29			10		0	0	0.000442599	0	0
LY9	4063	broad.mit.edu	37	1	160797565	160797565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160797565C>T	uc001fwu.3	+	9	1977	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F	LY9_uc001fwv.3_Missense_Mutation_p.L629F|LY9_uc001fww.3_Missense_Mutation_p.L553F|LY9_uc001fwz.3_Missense_Mutation_p.L258F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	643					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.D642Y(1)		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)			ACAGAATGATCTTGAGATTCC	0.473000														307			58		0	0	0.000781405	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:82670747G>A	uc003ycl.3	+	4	844	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318000														22			13		0	0	0.00244969	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215884	130215884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:130215884C>T	uc004evz.3	+	1	590	c.245C>T	c.(244-246)cCt>cTt	p.P82L	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P70L|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P51L|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	82					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAATTCAAACCTGACAGAGGT	0.582000														3			59		0	0	0.000781405	0	0
FAM5B	57795	broad.mit.edu	37	1	177249834	177249834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:177249834G>A	uc001glf.3	+	7	1834	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	FAM5B_uc001glg.3_Missense_Mutation_p.D403N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	508						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTGGAGACAGACTTGCAGGA	0.597000														26			26		0	0	0.001512	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646234	19646234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19646234C>T	uc002nmt.2	+	4	590	c.518C>T	c.(517-519)cCc>cTc	p.P173L	YJEFN3_uc021uqw.1_Missense_Mutation_p.P172L|YJEFN3_uc010ecf.2_Missense_Mutation_p.P123L|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	173	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						ATGGACATCCCCTTCCTGAGC	0.642000														14			14		0	0	0.00244969	0	0
LRRC7	57554	broad.mit.edu	37	1	70505081	70505081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:70505081C>T	uc001dep.3	+	18	3490	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	LRRC7_uc009wbg.3_Missense_Mutation_p.R438C|LRRC7_uc001deq.3_Missense_Mutation_p.R395C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1154						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						AGGGCTGGATCGCCAAAGCAG	0.527000														71			31		0	0	0.00058488	0	0
SHANK2	22941	broad.mit.edu	37	11	70348903	70348903	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:70348903T>A	uc001oqc.3	-	14	2115	c.2003A>T	c.(2002-2004)aAa>aTa	p.K668I	SHANK2_uc010rqn.2_Missense_Mutation_p.K144I|SHANK2_uc001opz.3_Missense_Mutation_p.K144I|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.K144I|SHANK2_uc001opy.3_5'Flank|SHANK2_uc010rqo.1_5'Flank	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	353					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.P667S(1)		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)			GCATGTACCTTTCTTCCTGGC	0.667000														9			8		0	0	0.000442599	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018182	161018182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161018182C>T	uc001fxl.3	-	11	2975	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E723K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E550K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	877	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGATTGCCCTCTTTGGCACAG	0.582000														88			16		0	0	0.000422831	0	0
CBWD5	220869	broad.mit.edu	37	9	70181982	70181982	+	RNA	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:70181982T>C	uc004afw.3	-	2		c.2130A>G						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CACTTTGTTTTAAAACTGTGA	0.373000														61			13		0	0	0.00047179	0	0
DNM3	26052	broad.mit.edu	37	1	172277953	172277953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:172277953G>A	uc001gie.3	+	15	2031	c.1855G>A	c.(1855-1857)Gct>Act	p.A619T	DNM3_uc009wwb.2_Missense_Mutation_p.A619T|DNM3_uc001gif.3_Missense_Mutation_p.A619T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	629	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTACTAAGAGCTGGGGTCTA	0.368000														49			8		0	0	0.000157383	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315790	208315790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:208315790G>A	uc001hgz.3	-	3	2148	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	464	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCACCATGGGGGGGACCGTCG	0.597000														124			35		0	0	0.00170553	0	0
HNRNPM	4670	broad.mit.edu	37	19	8538575	8538575	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8538575G>T	uc010dwe.3	+	10	1105	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V	HNRNPM_uc010dwc.1_Intron|HNRNPM_uc010xke.1_Intron|HNRNPM_uc010dwd.3_Missense_Mutation_p.G303V|HNRNPM_uc002mka.3_Intron	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	342					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATAGGATTTGGAATAAATAAA	0.294000														50			35		3.66854e-30	1.34606e-29	0.00170553	1	0
ABCA13	154664	broad.mit.edu	37	7	48288868	48288868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48288868C>T	uc003toq.2	+	14	1949	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	ABCA13_uc010kyr.2_Missense_Mutation_p.A145V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	642					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATTGGAAAGCCTTCAAAAAG	0.328000														84			11		0	0	0.00136819	0	0
PPL	5493	broad.mit.edu	37	16	4935829	4935829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:4935829C>T	uc002cyd.1	-	21	2917	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	943					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCACGGGATCCGGCACCTTC	0.607000														58			21		0	0	0.00278032	0	0
ZNF645	158506	broad.mit.edu	37	X	22291568	22291568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:22291568C>T	uc004dai.2	+	0	539	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	154						intracellular	zinc ion binding	p.R154C(2)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGAAAAAGTTCGTCCTCATAT	0.448000														32			32		0	0	0.00209593	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830175	26830175	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26830175C>T	uc003acg.2	+	1	991	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	198					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCCAGACCATCCTGTGTGAGT	0.552000														62			22		0	0	0.000586117	0	0
GRAMD3	65983	broad.mit.edu	37	5	125809035	125809035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:125809035C>T	uc011cwt.2	+	4	742	c.506C>T	c.(505-507)tCc>tTc	p.S169F	GRAMD3_uc003ktu.3_Missense_Mutation_p.S154F|GRAMD3_uc011cwv.2_Missense_Mutation_p.S162F|GRAMD3_uc011cww.2_Missense_Mutation_p.S50F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.S45F|GRAMD3_uc011cwz.2_Missense_Mutation_p.S138F|GRAMD3_uc011cwu.1_Missense_Mutation_p.S138F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	154	GRAM.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TGTTTTCATTCCAAAGTCTTT	0.299000														51			16		0	0	0.00074312	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50471821	50471821	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:50471821T>A	uc003daq.3	-	2	366	c.328A>T	c.(328-330)Aat>Tat	p.N110Y	CACNA2D2_uc003dap.3_Missense_Mutation_p.N110Y	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	110					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGAGGCTCATTCTCCTGTACC	0.572000														48			61		0	0	0.000781405	0	0
IPO8	10526	broad.mit.edu	37	12	30787023	30787023	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30787023G>A	uc001rjd.3	-	22	3241	c.2893C>T	c.(2893-2895)Ctg>Ttg	p.L965L	IPO8_uc010sjt.2_Silent_p.L760L|IPO8_uc001rje.1_Silent_p.L454L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	965					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACTTATCAGAGCTTGTGTA	0.378000														23			6		0	0	0.00198382	0	0
EPRS	2058	broad.mit.edu	37	1	220174493	220174493	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:220174493G>C	uc001hly.1	-	16	2438	c.2168C>G	c.(2167-2169)gCc>gGc	p.A723G	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.A474G|EPRS_uc001hlz.1_Missense_Mutation_p.A730G|EPRS_uc009xdt.1_Missense_Mutation_p.A311G	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	723	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATTTTTTGTGGCTTCTACTTT	0.358000														66			25		0	0	0.00106085	0	0
POTEM	641455	broad.mit.edu	37	14	20020059	20020059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20020059C>T	uc001vwc.3	-	0	214	c.162G>A	c.(160-162)atG>atA	p.M54I	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	54										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAAT	0.617000														293			9		0	0	0.00244969	0	0
UNC5B	219699	broad.mit.edu	37	10	73055663	73055663	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:73055663C>T	uc001jro.3	+	13	2722	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	UNC5B_uc001jrp.3_Silent_p.S746S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	757					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				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						TGCGCCTCTCCCTCCATGACC	0.607000														19			13		0	0	0.00074312	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138844	126138844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:126138844C>T	uc001uhe.1	+	8	2833	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	TMEM132B_uc001uhf.1_Missense_Mutation_p.S454F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	942						integral to membrane		p.H941Y(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATCCCCCATTCCCACGACTGG	0.512000														58			23		0	0	0.000586117	0	0
SF3A1	10291	broad.mit.edu	37	22	30733846	30733846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30733846G>A	uc003ahl.3	-	11	1916	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L	SF3A1_uc021wnt.1_Missense_Mutation_p.P530L	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	595					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGGCATGACGGGTACTGCGGA	0.597000														52			56		0	0	0.000781405	0	0
USH2A	7399	broad.mit.edu	37	1	215933013	215933013	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:215933013C>T	uc001hku.1	-	56	11607	c.11220G>A	c.(11218-11220)gaG>gaA	p.E3740E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3740	Fibronectin type-III 22.				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.L3739L(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)		TGCTATTGGGCTCCAGGTTTT	0.408000										HNSCC(13;0.011)				58			8		0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196837012	196837012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196837012C>T	uc002utj.4	-	15	2113	c.2012G>A	c.(2011-2013)aGg>aAg	p.R671K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	671	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						AATGATTTTCCTGTGTTCTTC	0.328000														90			15		0	0	0.000566183	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42851186	42851186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:42851186C>T	uc010gor.3	-	6	768	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G199E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G199E	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	199	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATCCACTATTCCTTGGCTAGA	0.368000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									86			35		0	0	0.00111076	0	0
ERBB4	2066	broad.mit.edu	37	2	212251709	212251709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:212251709G>A	uc002veg.1	-	26	3448	c.3350C>T	c.(3349-3351)cCc>cTc	p.P1117L	ERBB4_uc002veh.1_Missense_Mutation_p.P1101L|ERBB4_uc010zji.1_Missense_Mutation_p.P1107L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1091L	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.	1117					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)		TTGGACATGGGGTGCCACTGG	0.562000										TSP Lung(8;0.080)				48			27		0	0	0.001512	0	0
HCLS1	3059	broad.mit.edu	37	3	121350806	121350806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121350806C>T	uc003eeh.4	-	13	1473	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	HCLS1_uc011bjj.2_Missense_Mutation_p.D413N	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	450	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCGTCCGGATCAAAGGAAAGC	0.493000														44			76		0	0	0.000781405	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768792	31768792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31768792G>A	uc002nsy.4	-	1	1972	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	636					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTGGGCGGGGAAAGCTTCCC	0.577000														35			22		0	0	0.00188189	0	0
CCR3	1232	broad.mit.edu	37	3	46307076	46307076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46307076C>T	uc003cpl.2	+	2	1557	c.526C>T	c.(526-528)Cga>Tga	p.R176*	CCR3_uc003cpg.2_Nonsense_Mutation_p.R143*|CCR3_uc003cpk.2_Nonsense_Mutation_p.R164*|CCR3_uc003cpi.2_Nonsense_Mutation_p.R143*|CCR3_uc010hjb.2_Nonsense_Mutation_p.R161*|CCR3_uc003cpj.2_Nonsense_Mutation_p.R143*|CCR3_uc021wwz.1_Nonsense_Mutation_p.R143*	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	143					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTTTGCCCTTCGAGCCCGGAC	0.498000														63			22		0	0	0.00229938	0	0
CCL5	6352	broad.mit.edu	37	17	34199381	34199381	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:34199381C>T	uc002hkf.3	-	2	344	c.276G>A	c.(274-276)taG>taA	p.*92*		NM_002985	NP_002976	P13501	CCL5_HUMAN	Homo sapiens chemokine (C-C motif) ligand 5 (CCL5), mRNA.	0					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		ACTCTCCATCCTAGCTCATCT	0.517000														33			46		0	0	0.000781405	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617573	54617573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:54617573C>T	uc022adk.1	+	3	749	c.344C>T	c.(343-345)tCc>tTc	p.S115F	VSTM2A_uc010kzf.3_Missense_Mutation_p.S115F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	115	Ig-like V-type.					extracellular region		p.S115S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CTTCAGATTTCCAAAGTGAGG	0.423000														14			40		0	0	0.000680045	0	0
ISG15	9636	broad.mit.edu	37	1	949739	949739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:949739G>A	uc001acj.4	+	1	486	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_005101	NP_005092	P05161	ISG15_HUMAN	Homo sapiens ISG15 ubiquitin-like modifier (ISG15), mRNA.	127	Ubiquitin-like 2.				ISG15-protein conjugation|cell-cell signaling|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGACCTTCGAGGGGAAGCC	0.662000														93			26		0	0	0.000720815	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375518	93375518	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:93375518T>G	uc022bjs.1	-	0	592	c.592A>C	c.(592-594)Atc>Ctc	p.I198L	DIRAS2_uc004aqx.1_Missense_Mutation_p.I198L	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	198					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTTCACATGATCACGCACTTG	0.562000														87			20		0	0	0.00188189	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:3216769G>A	uc022aqr.1	-	20	3599	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	CSMD1_uc011kwj.2_Missense_Mutation_p.S463F|CSMD1_uc003wqe.3_Missense_Mutation_p.S227F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1071	Sushi 6.					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)		CAGGAAGCAGGAAAACGTCAG	0.557000														107			35		0	0	0.000692331	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74636998	74636998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:74636998C>T	uc004ecg.3	-	9	1369	c.891G>A	c.(889-891)atG>atA	p.M297I	ZDHHC15_uc004ech.3_Missense_Mutation_p.M288I|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	297						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TCATAGACCTCATAGGGAAGG	0.443000														35			40		0	0	0.00148497	0	0
ZNF19	7567	broad.mit.edu	37	16	71510036	71510036	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:71510036G>A	uc010cgc.1	-	5	920	c.414C>T	c.(412-414)caC>caT	p.H138H	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.H126H|ZNF19_uc002fal.1_Silent_p.H126H|ZNF19_uc002fam.1_Silent_p.H138H	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	138						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGATGTCCTGGTGCTTTTCCA	0.458000														28			14		0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9068704	9068704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9068704G>A	uc002mkp.3	-	2	18946	c.18742C>T	c.(18742-18744)Ctt>Ttt	p.L6248F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6250	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						ACAGAAACAAGAGAGGAGGTA	0.478000														35			39		0	0	0.00170553	0	0
KCND1	3750	broad.mit.edu	37	X	48826440	48826440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:48826440C>T	uc004dlx.1	-	0	1812	c.239G>A	c.(238-240)gGc>gAc	p.G80D	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	80						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GAAGTACTCGCCTGAGTCAGC	0.587000														14			6		0	0	0.000157383	0	0
DPRX	503834	broad.mit.edu	37	19	54140070	54140070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54140070C>T	uc002qcf.1	+	2	455	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATCCTGTACCCCAACCTCAAG	0.517000														101			30		0	0	0.00209593	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375879	113375879	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113375879G>A	uc003eam.3	-	6	5061	c.4650C>T	c.(4648-4650)tcC>tcT	p.S1550S	KIAA2018_uc003eal.3_Silent_p.S1494S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1550	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCCAGTCTTGGATCGGGATT	0.498000														32			16		0	0	0.00152264	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64717044	64717044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:64717044G>A	uc010nko.3	+	1	708	c.641G>A	c.(640-642)gGa>gAa	p.G214E		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	203							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGCAGAGGAATACAACTT	0.408000														2			14		0	0	0.000308642	0	0
YIPF7	285525	broad.mit.edu	37	4	44652082	44652082	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:44652082G>A	uc021xnx.1	-	1	125	c.108C>T	c.(106-108)taC>taT	p.Y36Y	YIPF7_uc010ify.2_Silent_p.Y36Y	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	36						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AATTAGATTGGTAAAAATCAG	0.289000														4			8		0	0	0.000978159	0	0
NCOR2	9612	broad.mit.edu	37	12	124835140	124835140	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124835140G>A	uc021rga.1	-	27	3975	c.3858C>T	c.(3856-3858)tcC>tcT	p.S1286S	NCOR2_uc021rgb.1_Silent_p.S1270S|NCOR2_uc010tbb.2_Silent_p.S1279S|NCOR2_uc010tbc.2_Silent_p.S1269S|NCOR2_uc021rgc.1_Silent_p.S1269S|NCOR2_uc010tba.2_Silent_p.S1287S|NCOR2_uc001ugj.1_Silent_p.S1287S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1287					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)		CACCCTCATAGGACAAGACGT	0.642000														75			24		0	0	0.000878237	0	0
RPH3A	22895	broad.mit.edu	37	12	113306309	113306309	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113306309G>A	uc010syl.2	+	7	881	c.519G>A	c.(517-519)aaG>aaA	p.K173K	RPH3A_uc001ttz.3_Silent_p.K173K|RPH3A_uc001tty.3_Silent_p.K169K|RPH3A_uc009zwe.1_Silent_p.K169K|RPH3A_uc010sym.2_Silent_p.K124K|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	173	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCCTATAAAGAAGACCAAGC	0.592000														26			13		0	0	0.00136819	0	0
OR4M2	390538	broad.mit.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22369419C>T	uc010tzu.2	+	0	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	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.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282H(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)		TTTAATATTCCCTTTACGTAA	0.378000														23			5		0	0	0.00116845	0	0
COL15A1	1306	broad.mit.edu	37	9	101824273	101824273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101824273G>A	uc004azb.1	+	36	3629	c.3423G>A	c.(3421-3423)atG>atA	p.M1141I		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1141	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				TCAGCAACATGGATGACATGC	0.423000														67			75		0	0	0.000781405	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222634	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231222634C>T	uc010fxm.1	+	2	313	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	74	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCC	0.373000														227			56		0	0	0.000781405	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746589	77746589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:77746589G>A	uc002snr.3	-	2	821	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LRRTM4_uc002snq.3_Missense_Mutation_p.R136C|LRRTM4_uc002sns.2_Missense_Mutation_p.R136C|LRRTM4_uc002snt.2_Missense_Mutation_p.R137C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	136						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)		TCCAGATTGCGGAGATTGGGA	0.383000														35			9		0	0	0.000978159	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727414	25727414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25727414C>T	uc003nfd.3	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						ACCATTTCTTCCAGAGAGATT	0.517000														70			20		0	0	0.00152264	0	0
CP	1356	broad.mit.edu	37	3	148928053	148928053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148928053C>T	uc003ewy.4	-	2	761	c.508G>A	c.(508-510)Gga>Aga	p.G170R	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Missense_Mutation_p.G170R|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	170	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCCATCTCCTTCCCCAGGA	0.408000														63			28		0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179597422	179597422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597422G>A	uc021vsy.1	-	52	12859	c.12634C>T	c.(12634-12636)Ccc>Tcc	p.P4212S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P873S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5139							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)			TTTGAGCCGGGTTTAGTTACA	0.423000														18			4		0	0	0.000602214	0	0
DPY19L4	286148	broad.mit.edu	37	8	95800237	95800237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:95800237G>A	uc003ygx.2	+	17	2088	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	655						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)					GGACCCATGAGAGGCTGTAGG	0.323000														296			130		0	0	0.000781405	0	0
IL17RA	23765	broad.mit.edu	37	22	17583051	17583051	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:17583051C>T	uc002zly.3	+	6	752	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	207					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCCAACATCACCGTGGAGA	0.577000														123			17		0	0	0.00074312	0	0
BSN	8927	broad.mit.edu	37	3	49695089	49695089	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49695089C>T	uc003cxe.4	+	4	8214	c.8100C>T	c.(8098-8100)atC>atT	p.I2700I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2700					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)		AGGTGGAGATCGTCAGGTACA	0.652000														83			25		0	0	0.001512	0	0
SYNE2	23224	broad.mit.edu	37	14	64461881	64461881	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:64461881C>T	uc001xgl.3	+	22	3131	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	SYNE2_uc001xgm.3_Silent_p.I967I|SYNE2_uc021ruh.1_Silent_p.I967I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	967					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAACTTATCCGTAGAGGAA	0.294000														48			9		0	0	0.000442599	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207806	123207806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123207806C>T	uc003ieh.3	+	50	9193	c.9148C>T	c.(9148-9150)Ccc>Tcc	p.P3050S	KIAA1109_uc003iel.1_Missense_Mutation_p.P985S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3050					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTAACCTTCCCCCTGTTAC	0.393000														81			27		0	0	0.00127121	0	0
ACE	1636	broad.mit.edu	37	17	61557763	61557763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61557763G>A	uc002jau.2	+	4	755	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ACE_uc010wpi.2_Missense_Mutation_p.E241K|ACE_uc010ddu.2_Missense_Mutation_p.E58K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	241	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACGATCTGGAACACCTCTA	0.612000														19			58		0	0	0.000781405	0	0
IL31RA	133396	broad.mit.edu	37	5	55195914	55195914	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:55195914G>A	uc003jql.3	+	7	1215	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	IL31RA_uc003jqk.3_Silent_p.G341G|IL31RA_uc011cqj.2_Silent_p.G199G|IL31RA_uc003jqm.3_Silent_p.G322G|IL31RA_uc003jqn.3_Silent_p.G341G|IL31RA_uc010iwa.1_Silent_p.G309G|IL31RA_uc021xyq.1_Silent_p.G322G|IL31RA_uc003jqo.3_Silent_p.G199G	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	309	Fibronectin type-III 4.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTCTCTTGGGAAGTCTCCAG	0.453000														118			50		0	0	0.000781405	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553855	53553855	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53553855G>A	uc021onn.1	-	10	1854	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	SLC1A7_uc021onm.1_Missense_Mutation_p.R438C|SLC1A7_uc001cux.3_Silent_p.I156I|SLC1A7_uc001cuy.3_Silent_p.I503I|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.	503						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)	GGGCTGCCACGATCTCCTGGA	0.612000														21			8		0	0	0.000157383	0	0
LAMB3	3914	broad.mit.edu	37	1	209796966	209796966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:209796966C>T	uc001hhg.3	-	14	2632	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	LAMB3_uc009xco.3_Missense_Mutation_p.E748K|LAMB3_uc001hhh.3_Missense_Mutation_p.E748K|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	748	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTCTGCCTCTCTCCGGCTG	0.657000														47			6		0	0	0.000566183	0	0
ZNF439	90594	broad.mit.edu	37	19	11978400	11978400	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11978400C>T	uc002mss.3	+	2	644	c.516C>T	c.(514-516)tcC>tcT	p.S172S	ZNF439_uc002msr.3_Silent_p.S36S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCACCCCTCCTTGAGAACAC	0.413000														105			24		0	0	0.00278032	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510883	110510883	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110510883G>A	uc003yne.3	+	67	10816	c.10712_splice	c.e67-1	p.G3571_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3571					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)			TTTGGTAAAAGGTGGGAGAAG	0.398000										HNSCC(38;0.096)				10			22		0	0	0.00047179	0	0
RFPL2	10739	broad.mit.edu	37	22	32588960	32588960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32588960G>A	uc003amg.3	-	3	1421	c.485C>T	c.(484-486)tCc>tTc	p.S162F	RFPL2_uc003ame.3_Missense_Mutation_p.S101F|RFPL2_uc003amf.3_Missense_Mutation_p.S72F|RFPL2_uc003amh.3_Missense_Mutation_p.S72F	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	162							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTTGATGTGGGAAGCCAGCCT	0.532000														160			37		0	0	0.000953801	0	0
NOS1	4842	broad.mit.edu	37	12	117723924	117723924	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117723924C>T	uc001twn.2	-	5	1986	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	NOS1_uc021ren.1_Silent_p.Q89Q|NOS1_uc021reo.1_Silent_p.Q89Q|NOS1_uc001twm.2_Silent_p.Q425Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	425					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.Q425L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTTGGACCACTGGATCCTGC	0.542000														57			19		0	0	0.00152264	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:19566125C>T	uc002wrl.3	+	5	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	183						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						TTGGCACCATCGTGGGCTCAG	0.542000														149			54		0	0	0.000781405	0	0
UNC5A	90249	broad.mit.edu	37	5	176295932	176295932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:176295932C>T	uc003mey.3	+	4	880	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	UNC5A_uc003mex.1_Missense_Mutation_p.R230C|UNC5A_uc010jkg.1_Missense_Mutation_p.R190C	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	230	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGCACGTCGCCGCAGCGC	0.657000														18			16		0	0	0.00121646	0	0
DGKI	9162	broad.mit.edu	37	7	137531208	137531208	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:137531208C>T	uc003vtt.3	-	1	402	c.401_splice	c.e1+1	p.R134_splice	DGKI_uc003vtu.3_Splice_Site	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	134					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCGCACCTACCTGTACGAGAC	0.672000														42			7		0	0	0.000274275	0	0
ACSM4	341392	broad.mit.edu	37	12	7459334	7459334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7459334G>A	uc001qsx.1	+	1	407	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	136					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCTTGCATACGAACAGGTCAG	0.463000														10			5		0	0	0.00116845	0	0
GPR27	2850	broad.mit.edu	37	3	71804034	71804034	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:71804034G>A	uc011bge.2	+	0	834	c.834G>A	c.(832-834)acG>acA	p.T278T	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AATTCAAGACGGAGAAGAGGC	0.716000														25			12		0	0	0.000978159	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:234445036C>T	uc001hvy.1	+	3	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_uc001hwa.1_Silent_p.I197I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000														29			47		0	0	0.000781405	0	0
ITIH6	347365	broad.mit.edu	37	X	54784275	54784275	+	Silent	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:54784275T>G	uc004dtj.2	-	7	2262	c.2232A>C	c.(2230-2232)ctA>ctC	p.L744L		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	744	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTGGTGTGATAGAGAGCCGG	0.517000														5			85		0	0	0.000781405	0	0
DAPK1	1612	broad.mit.edu	37	9	90219967	90219968	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90219967_90219968GG>AA	uc004apc.3	+	2	299_300	c.161_162GG>AA	c.(160-162)cgg>cAA	p.R54Q	DAPK1_uc004ape.3_Missense_Mutation_p.R54Q|DAPK1_uc004apd.3_Missense_Mutation_p.R54Q|DAPK1_uc011ltg.2_Missense_Mutation_p.R54Q|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.R53W(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						TCCAGCCGGCGGGGTGTGAGCC	0.559000									Chronic Lymphocytic Leukemia, Familial Clustering of					27			34		0	0	6.4e-05	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965943	23965943	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23965943G>A	uc002wts.3	-	5	721	c.588C>T	c.(586-588)ttC>ttT	p.F196F	GGTLC1_uc002wtu.3_Silent_p.F196F	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	196							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCACAGCAATGAAGGTGGACG	0.632000														87			36		0	0	0.00128727	0	0
ATXN1	6310	broad.mit.edu	37	6	16327105	16327105	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:16327105G>A	uc003nbt.3	-	7	2408	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	ATXN1_uc010jpi.3_Silent_p.P479P|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	479					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.L478L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCAGGTGCTGGGGCAGGCTGC	0.672000														151			48		0	0	0.000781405	0	0
IL5RA	3568	broad.mit.edu	37	3	3134004	3134004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:3134004C>T	uc011ask.2	-	9	1542	c.898G>A	c.(898-900)Gat>Aat	p.D300N	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.D300N|IL5RA_uc011asl.2_Missense_Mutation_p.D300N|IL5RA_uc011asm.1_Missense_Mutation_p.D300N|IL5RA_uc010hbt.2_Missense_Mutation_p.D300N|IL5RA_uc011asn.1_Missense_Mutation_p.D300N|IL5RA_uc010hbu.2_Missense_Mutation_p.D300N|IL5RA_uc010hbp.3_Missense_Mutation_p.D11N	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	300					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)		TTAGAAAGATCATCAATTATT	0.418000														80			22		0	0	0.00188189	0	0
CADPS2	93664	broad.mit.edu	37	7	122114448	122114448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:122114448G>A	uc022akp.1	-	11	2395	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	CADPS2_uc003vkg.4_Missense_Mutation_p.S359F|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.S659F|CADPS2_uc022akr.1_Missense_Mutation_p.S662F	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	662					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCAAGAATAGGAATCATTCAG	0.378000														65			19		0	0	0.00152264	0	0
CYP26C1	340665	broad.mit.edu	37	10	94822677	94822678	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:94822677_94822678GG>AA	uc010qns.2	+	2	630_631	c.630_631GG>AA	c.(628-633)ctggcc>ctAAcc	p.A211T	CYP26C1_uc009xud.3_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	211					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGCCACGCTGGCCCGGACCTT	0.673000														21			12		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179641514	179641514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179641514C>T	uc021vsy.1	-	27	5302	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	TTN_uc021vsz.1_Missense_Mutation_p.D1647N|TTN_uc021vta.1_Missense_Mutation_p.D1647N|TTN_uc021vtb.1_Missense_Mutation_p.D1647N|TTN_uc002unb.2_Missense_Mutation_p.D1693N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1693							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L1693H(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)			TCATAGAGATCACCTTCTTCC	0.463000														28			12		0	0	0.00185496	0	0
SLC9B1	150159	broad.mit.edu	37	4	103870499	103870499	+	Silent	SNP	G	A	A	rs78972166		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:103870499G>A	uc003hww.3	-	3	439	c.297C>T	c.(295-297)ttC>ttT	p.F99F	SLC9B1_uc003hwu.3_Silent_p.F99F|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	99						integral to membrane	solute:hydrogen antiporter activity										AAAAAATAATGAACAACCCAA	0.348000														52			22		0	0	0.00047179	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895554	42895554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:42895554G>A	uc003gwt.3	+	0	272	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	91			G -> V.		cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAGTGAGAAGGGTTTTGGTAC	0.453000														18			23		0	0	0.00047179	0	0
DPPA4	55211	broad.mit.edu	37	3	109050814	109050814	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:109050814G>A	uc003dxq.4	-	2	298	c.243C>T	c.(241-243)atC>atT	p.I81I	DPPA4_uc011bho.2_Silent_p.I81I|DPPA4_uc011bhp.1_Silent_p.I81I	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	81						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTAATGGAGGGATTGGTATCT	0.478000														69			31		0	0	0.00283554	0	0
FOXN2	3344	broad.mit.edu	37	2	48573792	48573792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48573792C>T	uc002rwh.1	+	2	754	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	147					embryo 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GGACCATTTTCCATATTTTGC	0.393000														93			68		0	0	0.000781405	0	0
TMEM139	135932	broad.mit.edu	37	7	142983219	142983219	+	Missense_Mutation	SNP	C	T	T	rs143413842		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142983219C>T	uc003wcl.3	+	3	423	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.R57W|TMEM139_uc010lov.3_Missense_Mutation_p.R57W|TMEM139_uc003wck.4_Missense_Mutation_p.R57W|TMEM139_uc003wcn.3_Intron|TMEM139_uc022aod.1_Intron|TMEM139_uc003wcm.3_Missense_Mutation_p.R57W	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	57						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TCTCCTGGTCCGGTTTCTGGA	0.547000														91			23		0	0	0.00188189	0	0
FAM21C	253725	broad.mit.edu	37	10	46254773	46254773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46254773C>T	uc001jcu.3	+	16	1677	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	FAM21C_uc001jcs.2_Missense_Mutation_p.S465F|FAM21C_uc010qfk.2_Missense_Mutation_p.S520F|FAM21C_uc010qfi.2_Missense_Mutation_p.S496F|FAM21C_uc010qfj.2_Intron	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	520								p.Y520S(3)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTTACCTTATCTTACAGCAAA	0.403000														38			20		0	0	0.00278032	0	0
EPS8L2	64787	broad.mit.edu	37	11	722701	722701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:722701C>T	uc001lqt.3	+	13	1484	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	EPS8L2_uc001lqu.3_Missense_Mutation_p.P413S|EPS8L2_uc010qwk.2_Missense_Mutation_p.P429S|EPS8L2_uc001lqv.3_Missense_Mutation_p.P368S|EPS8L2_uc001lqw.3_Missense_Mutation_p.P25S|EPS8L2_uc001lqx.3_Missense_Mutation_p.P25S|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	413						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCACAGGTGCCCCTCTACGT	0.692000														9			5		0	0	0.000602214	0	0
CDH7	1005	broad.mit.edu	37	18	63430132	63430132	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:63430132C>T	uc002lkb.3	+	1	480	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CDH7_uc002ljz.3_Silent_p.F18F|CDH7_uc002lka.3_Silent_p.F18F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	18					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAGCTCTTTTCCTGTGTTTTT	0.438000														19			4		0	0	0.000602214	0	0
PTPRK	5796	broad.mit.edu	37	6	128298072	128298072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128298072G>A	uc003qbk.3	-	25	4203	c.3836C>T	c.(3835-3837)tCc>tTc	p.S1279F	PTPRK_uc010kfc.3_Missense_Mutation_p.S1286F|PTPRK_uc003qbj.3_Missense_Mutation_p.S1280F|PTPRK_uc011ebu.2_Missense_Mutation_p.S1302F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1279	Tyrosine-protein phosphatase 2.				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)		ATTAACCTGGGACAAGTCGAC	0.358000														13			7		0	0	0.000274275	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678454	48678454	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48678454C>T	uc002irk.1	+	18	4206	c.3834C>T	c.(3832-3834)ttC>ttT	p.F1278F	CACNA1G_uc002iri.1_Silent_p.F1278F|CACNA1G_uc002irj.1_Silent_p.F1255F|CACNA1G_uc002irl.1_Silent_p.F1255F|CACNA1G_uc002irm.1_Silent_p.F1255F|CACNA1G_uc002irn.1_Silent_p.F1255F|CACNA1G_uc002iro.1_Silent_p.F1255F|CACNA1G_uc002irp.1_Silent_p.F1278F|CACNA1G_uc002irq.1_Silent_p.F1255F|CACNA1G_uc002irr.1_Silent_p.F1278F|CACNA1G_uc002irs.1_Silent_p.F1278F|CACNA1G_uc002irt.1_Silent_p.F1278F|CACNA1G_uc002iru.1_Silent_p.F1255F|CACNA1G_uc002irv.1_Silent_p.F1278F|CACNA1G_uc002irw.1_Silent_p.F1255F|CACNA1G_uc002irx.1_Silent_p.F1191F|CACNA1G_uc002iry.1_Silent_p.F1191F|CACNA1G_uc002isg.1_Silent_p.F1191F|CACNA1G_uc002ish.1_Silent_p.F1191F|CACNA1G_uc002isi.1_Silent_p.F1168F|CACNA1G_uc002irz.1_Silent_p.F1191F|CACNA1G_uc002isa.1_Silent_p.F1191F|CACNA1G_uc002isd.1_Silent_p.F1191F|CACNA1G_uc002isb.1_Silent_p.F1191F|CACNA1G_uc002isc.1_Silent_p.F1191F|CACNA1G_uc002ise.1_Silent_p.F1191F|CACNA1G_uc002isf.1_Silent_p.F1191F|CACNA1G_uc002isj.3_Silent_p.F2F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1278					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACAAGATGTTCGACCACGTGG	0.607000														77			30		0	0	0.0024448	0	0
RBMS3	27303	broad.mit.edu	37	3	29476339	29476339	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:29476339A>G	uc003cel.3	+	1	551	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	RBMS3_uc010hfq.3_Missense_Mutation_p.T61A|RBMS3_uc003cek.3_Missense_Mutation_p.T61A|RBMS3_uc010hfr.3_Missense_Mutation_p.T61A|RBMS3_uc003cem.3_Missense_Mutation_p.T60A	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	61	RRM 1.					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)				GTTGAGTAAAACCAACCTGTA	0.572000														29			34		0	0	0.00058488	0	0
HOXA3	3200	broad.mit.edu	37	7	27148121	27148121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:27148121C>T	uc011jzl.2	-	2	945	c.745G>A	c.(745-747)Gat>Aat	p.D249N	HOXA3_uc003syk.3_Missense_Mutation_p.D249N	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	249					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCTTCTGATCCTTTTTGTAC	0.602000														100			22		0	0	0.00278032	0	0
MYOM3	127294	broad.mit.edu	37	1	24408641	24408641	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:24408641G>A	uc001bin.4	-	17	2293	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	MYOM3_uc001bim.4_Silent_p.N367N|MYOM3_uc001bio.3_Silent_p.N710N|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	710	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTTCCCGCAGTTCAGGAGGG	0.592000														26			8		0	0	0.000274275	0	0
PDE1B	5153	broad.mit.edu	37	12	54968987	54968987	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54968987G>A	uc001sgd.2	+	10	1563	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	PDE1B_uc010soz.2_Silent_p.E253E|PDE1B_uc010spa.1_Silent_p.E349E|PDE1B_uc001sge.3_Silent_p.E370E|PDE1B_uc001sgf.3_Silent_p.E253E|PDE1B_uc009znq.3_Silent_p.E186E	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	390	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						CCCTCATGGAGGAATTCTTCC	0.572000														68			27		0	0	0.001512	0	0
EIF3D	8664	broad.mit.edu	37	22	36922103	36922104	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36922103_36922104GG>AA	uc003apr.3	-	1	230_231	c.65_66CC>TT	c.(64-66)ccc>cTT	p.P22L	EIF3D_uc011amt.2_Missense_Mutation_p.P22L|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	22						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GAAACTGCTCGGGAACCGCACA	0.515000														101			12		0	0	6.4e-05	0	0
DARC	2532	broad.mit.edu	37	1	159176102	159176102	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159176102C>T	uc001ftp.4	+	0	1054	c.879C>T	c.(877-879)gcC>gcT	p.A293A	DARC_uc001fto.3_Silent_p.A291A	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	291					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)					TGGCAGAAGCCCTGGCAATTT	0.597000														136			165		0	0	0.000781405	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014995	75014995	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:75014995G>A	uc002ayp.4	-	1	566	c.444C>T	c.(442-444)gcC>gcT	p.A148A	CYP1A1_uc010bjy.3_Silent_p.A148A|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.A148A|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.A148A	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	148					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTGGGTCAGAGGCAATGGAGA	0.592000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					41			68		0	0	0.000781405	0	0
CELA1	1990	broad.mit.edu	37	12	51733658	51733658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:51733658G>A	uc001ryi.1	-	5	636	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	199	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CATCCAGAGCGAACTCCATCT	0.602000														33			9		0	0	0.000442599	0	0
VWF	7450	broad.mit.edu	37	12	6094283	6094283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6094283G>A	uc001qnn.1	-	39	7154	c.6904C>T	c.(6904-6906)Ccc>Tcc	p.P2302S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2302	VWFC 1.				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)	CCACACGTGGGAGCTAGAGGA	0.542000														59			24		0	0	0.00278032	0	0
NTNG1	22854	broad.mit.edu	37	1	107937869	107937869	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:107937869G>A	uc001dvh.4	+	3	1699	c.981G>A	c.(979-981)ggG>ggA	p.G327G	NTNG1_uc001dvc.4_Silent_p.G327G|NTNG1_uc010out.2_Silent_p.G327G|NTNG1_uc001dvf.4_Silent_p.G327G|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_5'UTR|NTNG1_uc001dvd.1_Silent_p.G327G	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	327	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAGACTGTGGGAAATGCAAGA	0.483000														113			16		0	0	0.000422831	0	0
STK11IP	114790	broad.mit.edu	37	2	220479232	220479232	+	Missense_Mutation	SNP	C	T	T	rs138069010	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220479232C>T	uc002vml.3	+	22	2909	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	956					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGGAGGCTCGCCAGTTCTT	0.557000														49			19		0	0	0.00047179	0	0
CRB2	286204	broad.mit.edu	37	9	126133697	126133697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:126133697G>A	uc004bnx.1	+	7	2368	c.2276G>A	c.(2275-2277)tGg>tAg	p.W759*	CRB2_uc004bnw.1_Nonsense_Mutation_p.W759*	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	759	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCCAGCCCTGGGGTGGGCCC	0.667000														97			25		0	0	0.000720815	0	0
ASCC2	84164	broad.mit.edu	37	22	30200727	30200727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30200727G>A	uc003agr.3	-	12	1397	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ASCC2_uc011akr.2_Missense_Mutation_p.S342L|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.	418					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)			CTCAATCACCGATGGGTCTTT	0.582000														589			83		0	0	0.000781405	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894142	10894142	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:10894142C>T	uc003mzo.3	+	2	417	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	41						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAAAGGATTTCAGAAAATAAA	0.308000														8			30		0	0	0.00178596	0	0
IK	3550	broad.mit.edu	37	5	140041216	140041216	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140041216G>A	uc003lgq.3	+	16	1535	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K		NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	475					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACAAGAAGGGGCCCTTAG	0.493000														6			11		0	0	0.00185496	0	0
CD300LB	124599	broad.mit.edu	37	17	72527465	72527465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72527465G>A	uc002jkx.2	-	0	149	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	CD300LB_uc010wqz.1_Missense_Mutation_p.L46F	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	9	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGGCTGAGAAGGAGCAGAGCA	0.622000														59			25		0	0	0.00127121	0	0
ZNF229	7772	broad.mit.edu	37	19	44933871	44933871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44933871G>A	uc002oze.1	-	5	1519	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	ZNF229_uc010ejk.1_Missense_Mutation_p.S16L|ZNF229_uc010ejl.1_Missense_Mutation_p.S356L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGAAGAACCGATTTATACCT	0.498000														90			31		0	0	0.00209593	0	0
TCTN2	79867	broad.mit.edu	37	12	124163773	124163773	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124163773C>T	uc001ufp.3	+	4	629	c.501C>T	c.(499-501)ccC>ccT	p.P167P	TCTN2_uc009zya.3_Silent_p.P166P	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	167					cilium assembly|smoothened signaling pathway	integral to membrane		p.P167S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGTATCAGCCCCTTGGCCCTT	0.438000														116			58		0	0	0.000781405	0	0
C16orf89	146556	broad.mit.edu	37	16	5110350	5110350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:5110350C>T	uc010bud.3	-	2	683	c.446G>A	c.(445-447)gGg>gAg	p.G149E	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.G149E	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	149						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GTCCTGGGGCCCGAACGTGGG	0.602000														20			13		0	0	0.00185496	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590849	138590849	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:138590849C>T	uc010nbe.3	-	1	250	c.189G>A	c.(187-189)agG>agA	p.R63R	SOHLH1_uc004cgl.3_Silent_p.R63R	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	63					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCTGCGCTCCCTCTCGCTGA	0.697000														43			32		0	0	0.00058488	0	0
PTPRB	5787	broad.mit.edu	37	12	70988398	70988398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70988398C>T	uc001swb.4	-	3	741	c.711G>A	c.(709-711)atG>atA	p.M237I	PTPRB_uc010sto.2_Missense_Mutation_p.M237I|PTPRB_uc010stp.2_Missense_Mutation_p.M237I|PTPRB_uc001swc.4_Missense_Mutation_p.M455I|PTPRB_uc001swa.4_Missense_Mutation_p.M455I|PTPRB_uc001swd.4_Missense_Mutation_p.M454I|PTPRB_uc009zrr.2_Missense_Mutation_p.M334I|PTPRB_uc001swe.3_Missense_Mutation_p.M455I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	237	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)			TCCCTTTATCCATTAGCATCA	0.473000														41			17		0	0	0.000566183	0	0
NKD2	85409	broad.mit.edu	37	5	1038363	1038363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:1038363G>A	uc003jbt.1	+	9	1236	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	411					Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCACGAGGTGGTGCGGGACCT	0.692000														4			5		0	0	0.00116845	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87163713	87163713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:87163713G>A	uc003ydp.1	+	6	904	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	279					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCTTTATTTGAAGCTGTAGG	0.299000														24			8		0	0	0.000673444	0	0
CHD9	80205	broad.mit.edu	37	16	53357974	53357974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:53357974C>T	uc002ehb.3	+	37	8025	c.7861C>T	c.(7861-7863)Ccc>Tcc	p.P2621S	CHD9_uc002egy.3_Missense_Mutation_p.P2605S|CHD9_uc002ehc.3_Missense_Mutation_p.P2606S|CHD9_uc002ehf.3_Missense_Mutation_p.P1719S|CHD9_uc002ehg.2_Missense_Mutation_p.P1736S|CHD9_uc010cbw.3_Missense_Mutation_p.P687S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2621					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTCACTGGTCCCGTTGTGAG	0.433000														74			29		0	0	0.00058488	0	0
TINAG	27283	broad.mit.edu	37	6	54186144	54186144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:54186144C>T	uc003pcj.2	+	2	615	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	157					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)			ATGCCTTGTTCGTTCAGAATT	0.378000														21			15		0	0	0.000958276	0	0
C1orf210	149466	broad.mit.edu	37	1	43748510	43748510	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43748510C>T	uc001cit.4	-	2	522	c.288G>A	c.(286-288)caG>caA	p.Q96Q	C1orf210_uc021omn.1_Silent_p.Q96Q	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	96						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGTCCCAGGCTGAATGTAAT	0.602000														72			25		0	0	0.000878237	0	0
TNRC6B	23112	broad.mit.edu	37	22	40696535	40696535	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40696535C>A	uc011aor.2	+	12	3996	c.3785C>A	c.(3784-3786)tCt>tAt	p.S1262Y	TNRC6B_uc003aym.3_Missense_Mutation_p.S458Y|TNRC6B_uc003ayn.4_Missense_Mutation_p.S1152Y|TNRC6B_uc003ayo.3_Missense_Mutation_p.S1009Y	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1262					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCCCAGTTATCTCCTCAACAA	0.433000														42			30		6.04164e-23	2.2128e-22	0.00209593	1	0
IGSF9	57549	broad.mit.edu	37	1	159904552	159904552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159904552G>A	uc001fur.2	-	6	932	c.734C>T	c.(733-735)tCa>tTa	p.S245L	IGSF9_uc001fuq.2_Missense_Mutation_p.S245L|IGSF9_uc001fup.2_5'Flank	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	245	Ig-like 3.					cell junction|integral to membrane|synapse		p.S245S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCCAATGAAACATCCTG	0.567000														57			14		0	0	0.00185496	0	0
C3orf62	375341	broad.mit.edu	37	3	49314265	49314265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49314265G>A	uc003cwn.2	-	0	244	c.41C>T	c.(40-42)tCt>tTt	p.S14F	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	Homo sapiens chromosome 3 open reading frame 62 (C3orf62), mRNA.	14										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TAGTTTTTCAGACATTTCTCC	0.448000														52			10		0	0	0.000978159	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150667295	150667295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:150667295C>T	uc001evj.2	-	1	237	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	GOLPH3L_uc010pci.1_Missense_Mutation_p.R7Q	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	7						Golgi cisterna membrane		p.R7L(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCGACGGGCCCGGTGAGTTAA	0.393000														107			60		0	0	0.000781405	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111792	64111792	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:64111792C>T	uc001nzy.3	+	13	1828	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G	CCDC88B_uc009ypo.2_Silent_p.G590G|CCDC88B_uc001nzz.1_Silent_p.G242G	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	593					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						AGAAGGCTGGCCGTAGATCCT	0.642000														10			8		0	0	0.000442599	0	0
RGS6	9628	broad.mit.edu	37	14	73029132	73029132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:73029132C>T	uc001xna.4	+	16	1899	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	RGS6_uc021rvv.1_Missense_Mutation_p.S424L|RGS6_uc010ttn.2_Missense_Mutation_p.S477L|RGS6_uc021rvw.1_Intron|RGS6_uc021rvx.1_Intron|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.S477L|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.S459L|RGS6_uc021rwa.1_Missense_Mutation_p.S440L|RGS6_uc021rwb.1_Missense_Mutation_p.S422L|RGS6_uc021rwc.1_Intron	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGGAAAGTCGCTGGCGGGC	0.647000														44			9		0	0	0.000673444	0	0
OR5D16	390144	broad.mit.edu	37	11	55606658	55606658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55606658C>T	uc010rio.2	+	0	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	144					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)				AAACTCTGTGCCATGCTGGTG	0.453000														13			15		0	0	0.000422831	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397357	49397357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49397357G>A	uc001rsy.3	-	9	831	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PRKAG1_uc010smd.2_Missense_Mutation_p.S210F|PRKAG1_uc001rsz.3_Missense_Mutation_p.S251F	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	242	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						ATCAAACTTGGAGTAGATGTC	0.542000														33			11		0	0	0.000978159	0	0
WDR96	80217	broad.mit.edu	37	10	105893452	105893452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105893452C>T	uc001kxw.3	-	34	4638	c.4522G>A	c.(4522-4524)Gag>Aag	p.E1508K	WDR96_uc009xxq.3_Missense_Mutation_p.E787K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1508										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						CTTTCCATCTCCATTTTCTTA	0.358000														24			16		0	0	0.000422831	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671697	8671697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8671697G>A	uc001qun.3	+	3	518	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	109	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCTGAGAGTGAAAGGAACTG	0.512000														18			17		0	0	0.000566183	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766066	77766066	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77766066G>A	uc003yau.2	+	9	7296	c.6909G>A	c.(6907-6909)cgG>cgA	p.R2303R	ZFHX4_uc003yaw.1_Silent_p.R2258R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2258						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)			CTAATGAACGGTACATTCGAA	0.383000										HNSCC(33;0.089)				21			31		0	0	0.00127121	0	0
XIRP2	129446	broad.mit.edu	37	2	168105146	168105146	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168105146A>T	uc002udx.3	+	8	7333	c.7244A>T	c.(7243-7245)aAa>aTa	p.K2415I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240I|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2240					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						ATAACAGGAAAAACCGGTGTG	0.438000														55			12		0	0	0.00136819	0	0
BPIFA3	128861	broad.mit.edu	37	20	31812911	31812911	+	Missense_Mutation	SNP	G	A	A	rs150349800	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31812911G>A	uc002wyr.3	+	3	602	c.394G>A	c.(394-396)Gat>Aat	p.D132N	BPIFA3_uc002wys.3_Missense_Mutation_p.D96N	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	132						extracellular region	lipid binding										CAGGTCCTTCGATAACAACAT	0.507000														126			23		0	0	0.00047179	0	0
BUD13	84811	broad.mit.edu	37	11	116628539	116628539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:116628539C>T	uc001ppn.3	-	7	1661	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	BUD13_uc001ppo.3_Missense_Mutation_p.D409N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	543										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)		GCCATAGGGTCCCCCTCTCTT	0.453000														251			191		0	0	0.000781405	0	0
XKR9	389668	broad.mit.edu	37	8	71646610	71646610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:71646610G>A	uc003xyq.3	+	4	1607	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	XKR9_uc010lzd.3_Missense_Mutation_p.G226E|XKR9_uc010lze.3_Missense_Mutation_p.G358E	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	358						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAAATTGATGGAAAACCAGTT	0.279000														22			11		0	0	0.000308642	0	0
THSD7A	221981	broad.mit.edu	37	7	11676263	11676263	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:11676263G>A	uc021zzo.1	-	1	768	c.516C>T	c.(514-516)atC>atT	p.I172I	THSD7A_uc021zzn.1_Silent_p.I172I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	172						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCACAGATGATATCCTCCG	0.498000										HNSCC(18;0.044)				53			32		0	0	0.00283554	0	0
FAT2	2196	broad.mit.edu	37	5	150946634	150946634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150946634G>A	uc003lue.4	-	0	1872	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	FAT2_uc010jhx.1_Missense_Mutation_p.S620F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	620	Cadherin 5.				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)			GCGTTTGAGGGATATCACTCC	0.418000														25			41		0	0	0.00148497	0	0
GRIK4	2900	broad.mit.edu	37	11	120833374	120833374	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120833374G>A	uc001pxn.2	+	17	2537	c.2250G>A	c.(2248-2250)ggG>ggA	p.G750G	GRIK4_uc009zav.1_Silent_p.G750G|GRIK4_uc009zaw.1_Silent_p.G750G|GRIK4_uc009zax.1_Silent_p.G750G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	750					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)	AGGGCTATGGGATTGGCATGC	0.537000														31			14		0	0	0.00152264	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870703	51870703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51870703G>A	uc002xwo.3	+	1	1593	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TSHZ2_uc021wex.1_Missense_Mutation_p.E233K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	236					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)			GCACATGAATGAAACGGGCCA	0.532000														43			11		0	0	0.000978159	0	0
POM121L12	285877	broad.mit.edu	37	7	53103888	53103888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:53103888G>A	uc003tpz.3	+	0	540	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	175								p.R175W(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTGCACCCGGGAGACTCTG	0.721000														39			9		0	0	0.000274275	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41322393	41322393	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41322393C>A	uc003azh.3	+	9	1579	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	XPNPEP3_uc003azi.3_Missense_Mutation_p.P414H|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	493					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCAGACTGTCCCAAAGAGATG	0.502000														523			10		0.000673444	0.00243932	0.000673444	1	0
KIF13A	63971	broad.mit.edu	37	6	17837221	17837222	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:17837221_17837222CG>AT	uc003ncg.4	-	10	1202_1203	c.1042_1043CG>AT	c.(1042-1044)cga>ATa	p.R348I	KIF13A_uc003ncf.3_Missense_Mutation_p.R348I|KIF13A_uc003nch.4_Missense_Mutation_p.R348I|KIF13A_uc003nci.4_Missense_Mutation_p.R348I|KIF13A_uc003ncj.3_Missense_Mutation_p.R24I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	348					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)			CCTTTTGGCTCGGTCTGCATAT	0.515000														305			8		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179647612	179647612	+	Silent	SNP	C	T	T	rs147603843		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179647612C>T	uc021vsy.1	-	17	3246	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	TTN_uc021vsz.1_Silent_p.A961A|TTN_uc021vta.1_Silent_p.A961A|TTN_uc021vtb.1_Silent_p.A961A|TTN_uc002unb.2_Silent_p.A1007A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1007	Ig-like 3.						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)			CGCTGTCTTCCGCAAATGCTT	0.502000														25			22		0	0	0.00152264	0	0
TECPR2	9895	broad.mit.edu	37	14	102843242	102843242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:102843242C>T	uc001ylw.2	+	1	410	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	TECPR2_uc010txw.2_Missense_Mutation_p.R62W|TECPR2_uc010awl.3_Missense_Mutation_p.R62W|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	62							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						TCTGTACTGCCGGCACCTCAA	0.557000														32			8		0	0	0.000442599	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742086	41742086	+	Silent	SNP	C	T	T	rs149401669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41742086C>T	uc003azw.3	+	13	1755	c.1539C>T	c.(1537-1539)acC>acT	p.T513T		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	529					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACGTGTGGACCGAGGAGCGGA	0.592000														124			181		0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38759333	38759333	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38759333C>T	uc021yzh.1	+	20	2893	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	DNAH8_uc003ooe.2_Silent_p.I711I	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						CCTTGTAGATCAGTGACTTGT	0.348000														16			16		0	0	0.000308642	0	0
TINAG	27283	broad.mit.edu	37	6	54254608	54254608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:54254608G>A	uc003pcj.2	+	10	1462	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	439					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)			AATTCCTGGGGAAAGTCATGG	0.393000														25			23		0	0	0.001512	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417610	121417610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121417610C>T	uc010hrc.3	-	12	1886	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	GOLGB1_uc003eei.4_Missense_Mutation_p.G582E|GOLGB1_uc003eej.4_Missense_Mutation_p.G548E|GOLGB1_uc021xcy.1_Missense_Mutation_p.G507E|GOLGB1_uc011bjm.1_Missense_Mutation_p.G468E|GOLGB1_uc010hrd.1_Missense_Mutation_p.G546E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	582					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCCTTTTTCCCTGGAGCTG	0.358000														39			12		0	0	0.00136819	0	0
SEC11C	90701	broad.mit.edu	37	18	56819910	56819910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56819910C>T	uc002lht.3	+	2	396	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	SEC11C_uc010dpo.1_Missense_Mutation_p.H114Y|SEC11C_uc010xej.1_Missense_Mutation_p.H114Y	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	114					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AATCAAAGTTCATGAAAAGTA	0.343000														89			23		0	0	0.00047179	0	0
CACNA1C	775	broad.mit.edu	37	12	2794921	2794921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:2794921G>A	uc009zdu.1	+	46	6155	c.5842G>A	c.(5842-5844)Gaa>Aaa	p.E1948K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E1884K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1884K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1854K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1873K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1906K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1871K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1873K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1913K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E1900K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E1925K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1885K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1893K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1900K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1882K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1884K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E1862K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1672K|CACNA1C_uc010sea.1_Missense_Mutation_p.E556K|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E183K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1948					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.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		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)	CCAGGATGACGAAAATCGGCA	0.592000														22			4		0	0	0.000602214	0	0
LTN1	26046	broad.mit.edu	37	21	30308901	30308901	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:30308901G>T	uc002ymr.2	-	25	4752	c.4739C>A	c.(4738-4740)cCa>cAa	p.P1580Q		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1534							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						GTCCTTATTTGGGACCTCAAC	0.393000														315			10		0.000673444	0.00243932	0.000673444	1	0
SLC12A3	6559	broad.mit.edu	37	16	56947280	56947280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:56947280G>A	uc002ekd.4	+	25	3085	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	SLC12A3_uc010ccm.3_Missense_Mutation_p.G1010E|SLC12A3_uc010ccn.3_Missense_Mutation_p.G1018E	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	1010					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGATCCGAGGAAACCAGGAA	0.552000														82			39		0	0	0.00222228	0	0
ABHD13	84945	broad.mit.edu	37	13	108881849	108881849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:108881849G>A	uc001vqq.3	+	1	548	c.283G>A	c.(283-285)Gat>Aat	p.D95N	ABHD13_uc021rml.1_Missense_Mutation_p.D95N	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	95						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAGAACCAAAGATGGAATACG	0.393000														32			13		0	0	0.00244969	0	0
GLRB	2743	broad.mit.edu	37	4	158060009	158060009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:158060009C>T	uc003ipj.2	+	6	861	c.659C>T	c.(658-660)cCt>cTt	p.P220L	GLRB_uc021xtp.1_Missense_Mutation_p.P220L|GLRB_uc021xtq.1_Missense_Mutation_p.P220L	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	220					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)	TCAGGAGATCCTGTGCAATTA	0.289000														21			35		0	0	0.00285205	0	0
BAGE	574	broad.mit.edu	37	21	11020917	11020917	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:11020917C>T	uc002yiu.1	-	9	1688	c.1488_splice	c.e9-1		TPTE_uc002yis.1_Splice_Site|BAGE_uc002yit.1_Splice_Site	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACACACATATCCTGAAGTTAA	0.358000														135			27		0	0	0.00209593	0	0
KSR1	8844	broad.mit.edu	37	17	25928939	25928939	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:25928939T>C	uc010crg.3	+	11	1562	c.1117T>C	c.(1117-1119)Tgg>Cgg	p.W373R	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	509					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGCCATTGCTGGAAATGCCT	0.443000											OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			9		0	0	0.000673444	0	0
SCMH1	22955	broad.mit.edu	37	1	41494270	41494270	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:41494270G>A	uc001cgo.3	-	14	2212	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	SCMH1_uc010ojr.2_Silent_p.L435L|SCMH1_uc001cgp.3_Silent_p.L554L|SCMH1_uc001cgr.3_Silent_p.L532L|SCMH1_uc001cgq.3_Silent_p.L546L|SCMH1_uc001cgs.3_Silent_p.L603L|SCMH1_uc001cgt.3_Silent_p.L532L|SCMH1_uc010ojs.1_Non-coding_Transcript|LOC100507178_uc021omd.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.	615	SAM.				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)				TTGCGAAACAGGTCAGCGTGG	0.587000														109			32		0	0	0.00058488	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534324	47534324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47534324C>T	uc001cqu.1	+	1	211	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	70						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAGGTGTATCATAAGCTGAT	0.463000														99			23		0	0	0.00278032	0	0
NOD2	64127	broad.mit.edu	37	16	50745455	50745455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50745455C>T	uc002egm.1	+	3	1738	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	NOD2_uc021tia.1_Missense_Mutation_p.P377S|NOD2_uc010cbk.1_Missense_Mutation_p.P518S|NOD2_uc002egl.1_Missense_Mutation_p.P323S|NOD2_uc010cbl.1_Missense_Mutation_p.P323S|NOD2_uc010cbm.1_Missense_Mutation_p.P323S|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.	545	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)				GGGCCGCCTCCCCACCCTCCT	0.622000														15			22		0	0	0.000586117	0	0
VCAN	1462	broad.mit.edu	37	5	82834193	82834193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:82834193C>T	uc003kii.3	+	7	5727	c.5371C>T	c.(5371-5373)Cct>Tct	p.P1791S	VCAN_uc003kij.3_Missense_Mutation_p.P804S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P455S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1791	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)		AGATTCTACTCCTGTCTTTAC	0.433000														21			9		0	0	0.000673444	0	0
SMC2	10592	broad.mit.edu	37	9	106876340	106876340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:106876340C>T	uc004bbv.3	+	11	1798	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	SMC2_uc004bbu.1_Missense_Mutation_p.P504S|SMC2_uc004bbw.3_Missense_Mutation_p.P504S|SMC2_uc011lvl.2_Missense_Mutation_p.P504S|SMC2_uc004bbx.3_Missense_Mutation_p.P504S	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	504					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCCAGATTTCCCAATCTTCG	0.343000														131			58		0	0	0.000781405	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127354	45127354	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45127354G>A	uc010wkj.1	+	1	906	c.552G>A	c.(550-552)aaG>aaA	p.K184K	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1320						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAACACCCAAGGTCAAAAAGA	0.433000														457			58		0	0	0.000781405	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010019	85010019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:85010019G>A	uc010voi.1	-	8	1321	c.968C>T	c.(967-969)cCc>cTc	p.P323L	ZDHHC7_uc002fiq.2_Missense_Mutation_p.P286L|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	286						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GCCCACAAAGGGATTCATCCA	0.577000														30			46		0	0	0.000781405	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863538	51863539	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:51863538_51863539GG>AA	uc001rys.1	+	11	1668_1669	c.1490_1491GG>AA	c.(1489-1491)ggg>gAA	p.G497E	SLC4A8_uc010sni.2_Missense_Mutation_p.G444E|SLC4A8_uc001rym.3_Missense_Mutation_p.G444E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G444E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G444E|SLC4A8_uc010snj.2_Missense_Mutation_p.G524E|SLC4A8_uc001ryq.4_Missense_Mutation_p.G497E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G497E|SLC4A8_uc010snk.2_Missense_Mutation_p.G444E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	497					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATCACCTTTGGGGGACTGCTTG	0.505000														75			29		0	0	6.4e-05	0	0
FMN2	56776	broad.mit.edu	37	1	240255747	240255747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:240255747C>T	uc010pye.2	+	0	563	c.338C>T	c.(337-339)tCc>tTc	p.S113F	FMN2_uc010pyd.2_Missense_Mutation_p.S113F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	113					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)			AGCGCTCACTCCCTGCTCACC	0.647000														23			5		0	0	0.000602214	0	0
OR10H3	26532	broad.mit.edu	37	19	15852289	15852289	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15852289C>T	uc010xoq.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTCTTGTTCCTGCTGTACC	0.493000														185			60		0	0	0.000781405	0	0
FAM13B	51306	broad.mit.edu	37	5	137289982	137289982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:137289982G>A	uc003lbz.2	-	13	2059	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	FAM13B_uc003lcb.2_Missense_Mutation_p.H413Y|FAM13B_uc003lca.2_Missense_Mutation_p.H509Y	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	509					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AAGGGGTGATGATTCATTCTT	0.448000														42			14		0	0	0.00244969	0	0
MYH8	4626	broad.mit.edu	37	17	10317277	10317277	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10317277C>T	uc002gmm.2	-	11	1184	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	363	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						ATTTCATGTTCCCATAATGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					51			48		0	0	0.000781405	0	0
ASB15	142685	broad.mit.edu	37	7	123257713	123257713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:123257713G>A	uc003vku.1	+	6	665	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ASB15_uc003vkv.1_Missense_Mutation_p.E125K|ASB15_uc003vkw.1_Missense_Mutation_p.E125K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	125					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGTCTGGTGGAAAATGTAAG	0.408000														73			25		0	0	0.000586117	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913437	77913437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:77913437G>A	uc022bzi.1	-	0	481	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P161S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	161	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATATTTGGGGGATCCTGGGGT	0.567000														1			31		0	0	0.00283554	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173591	207173591	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207173591T>G	uc002vbp.2	+	4	4589	c.4339T>G	c.(4339-4341)Tgt>Ggt	p.C1447G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1447							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						AAATAAGAACTGTGAAGTCTG	0.358000														30			4		0	0	0.00024832	0	0
MAGI1	9223	broad.mit.edu	37	3	65350400	65350400	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:65350400C>T	uc003dmn.3	-	20	3817	c.3291_splice	c.e20-1	p.R1097_splice	MAGI1_uc003dmm.3_Splice_Site_p.R1125_splice|MAGI1_uc003dmo.3_Splice_Site_p.R1126_splice|MAGI1_uc003dmp.3_Splice_Site_p.R1030_splice	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1126					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGTGGTATTCCTGCCAAAGT	0.393000														47			29		0	0	0.00058488	0	0
ZNF606	80095	broad.mit.edu	37	19	58500040	58500040	+	Nonsense_Mutation	SNP	C	T	T	rs151102847		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58500040C>T	uc002qqw.3	-	4	845	c.227G>A	c.(226-228)tGg>tAg	p.W76*	ZNF606_uc010yhp.2_5'UTR	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGCTGCCCCCACTCTTCTTG	0.547000														167			48		0	0	0.000781405	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:107022168G>A	uc001kyi.1	+	25	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(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)		GAGCCAAAGTGAAAACGCCCC	0.507000														19			10		0	0	0.000978159	0	0
ZNF446	55663	broad.mit.edu	37	19	58988735	58988735	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58988735G>A	uc002qsz.3	+	1	267	c.150G>A	c.(148-150)ctG>ctA	p.L50L	ZNF446_uc002qta.3_Silent_p.L50L|ZNF446_uc010eur.3_Silent_p.L50L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	50	SCAN box.				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)		TGCGTGAGCTGTGTTGCCAGT	0.657000														46			51		0	0	0.000781405	0	0
DOM3Z	1797	broad.mit.edu	37	6	31937781	31937781	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31937781C>A	uc003nyp.1	-	6	1397	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	DOM3Z_uc003nyq.1_Missense_Mutation_p.W96L|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	355							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCAGGCTCCCAAGAGAAGAG	0.587000														226			12		0.00010058	0.000365618	0.00136819	1	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:74015056C>T	uc010wss.1	-	10	1451	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	408	Globular 1.				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						GGGGTTTCTTCGCTGTGGCAG	0.682000														30			10		0	0	0.000673444	0	0
MYOG	4656	broad.mit.edu	37	1	203054895	203054895	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203054895G>A	uc001gzd.3	-	0	483	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	65					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCCACGGCAGGCACTGGCCTG	0.682000														107			25		0	0	0.00127121	0	0
PTCD2	79810	broad.mit.edu	37	5	71627109	71627109	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:71627109C>T	uc003kcb.3	+	3	385	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	125										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)		ACAAAAATTTCACTTTGGGGG	0.428000														97			46		0	0	0.000781405	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890555	63890555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:63890555G>A	uc003jtj.3	+	3	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E	RGS7BP_uc011cqu.2_Missense_Mutation_p.G28E	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	161					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTGGCGGGGGAACCAAGAGT	0.478000														34			12		0	0	0.000422831	0	0
ZNF429	353088	broad.mit.edu	37	19	21720110	21720110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:21720110C>T	uc002nqd.1	+	3	1392	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAGAAAATTCATACTGGAGA	0.353000														35			12		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9071966	9071966	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9071966C>A	uc002mkp.3	-	2	15684	c.15480G>T	c.(15478-15480)gtG>gtT	p.V5160V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5162	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						CTGGATCTCCCACAGTGGTGG	0.478000														268			9		3.86212e-05	0.000140492	0.000673444	1	0
CDKAL1	54901	broad.mit.edu	37	6	21108659	21108660	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:21108659_21108660CG>AT	uc003ndd.2	+	12	1431_1432	c.1264_1265CG>AT	c.(1264-1266)cgg>ATg	p.R422M	CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Missense_Mutation_p.R422M|CDKAL1_uc003ndf.2_Missense_Mutation_p.R18M	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	422					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R422L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGATCTTTCTCGGGTGTTTCAT	0.292000														515			11		0	0	6.4e-05	0	0
LAMC3	10319	broad.mit.edu	37	9	133920952	133920952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133920952C>T	uc004caa.1	+	7	1522	c.1424C>T	c.(1423-1425)gCt>gTt	p.A475V		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	475	Laminin EGF-like 4.				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)		CACAATCCAGCTGGCTGCAGC	0.607000														31			26		0	0	0.000878237	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816833	77816833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:77816833C>T	uc003hki.3	-	0	2170	c.2170G>A	c.(2170-2172)Gga>Aga	p.G724R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	724																	CGAGGAGCTCCCAACAGCTGC	0.502000														159			89		0	0	0.000781405	0	0
FNDC1	84624	broad.mit.edu	37	6	159660606	159660606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159660606G>A	uc010kjv.3	+	13	4438	c.4238G>A	c.(4237-4239)cGa>cAa	p.R1413Q	FNDC1_uc010kjw.1_Missense_Mutation_p.R1298Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1413						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)		GGGCAGGGGCGACATGGCACA	0.532000														8			6		0	0	0.00198382	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834803	24834803	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24834803C>T	uc001iru.4	+	20	5785	c.5382C>T	c.(5380-5382)tcC>tcT	p.S1794S	KIAA1217_uc001irs.3_Silent_p.S1115S|KIAA1217_uc001irt.4_Silent_p.S1160S|KIAA1217_uc010qcy.2_Silent_p.S1225S|KIAA1217_uc010qcz.2_Silent_p.S1200S|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.	1794	Ser-rich.				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						AGCCTACTTCCCCCTCCTTAC	0.488000														40			26		0	0	0.000586117	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:4566771C>T	uc010qyf.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCATCTTCCTTGCCATGG	0.522000														23			27		0	0	0.00106085	0	0
SNORD109B	338429	broad.mit.edu	37	15	25287125	25287125	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:25287125C>T	uc001yxf.1	+	0		c.5C>T								Homo sapiens small nucleolar RNA, C/D box 109B (SNORD109B), small nucleolar RNA.																		TTGTTTGGATCGATGATGAGA	0.428000														25			35		0	0	0.00222228	0	0
C1orf173	127254	broad.mit.edu	37	1	75065431	75065431	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75065431C>T	uc001dgg.3	-	10	1893	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.V352V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	558	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						TCTCATCTTTCACATTGTCAC	0.418000														20			29		0	0	0.00127121	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271653	15271653	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15271653G>A	uc002nan.3	-	32	6862	c.6786C>T	c.(6784-6786)tcC>tcT	p.S2262S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2262					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	p.S2262C(1)		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)			AGTCTGAGAGGGAGGGAGGTG	0.677000														50			15		0	0	0.000422831	0	0
THSD4	79875	broad.mit.edu	37	15	72021046	72021046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72021046G>A	uc002atb.1	+	7	1595	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	THSD4_uc002atd.1_Missense_Mutation_p.E180K|THSD4_uc010ukg.1_Missense_Mutation_p.E146K|THSD4_uc002ate.2_Missense_Mutation_p.E146K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	506						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						TCCCACCAACGAGATCTTGGA	0.458000														89			32		0	0	0.00283554	0	0
SGPP2	130367	broad.mit.edu	37	2	223423285	223423285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:223423285G>A	uc010zlo.2	+	4	868	c.868G>A	c.(868-870)Gga>Aga	p.G290R	SGPP2_uc010zlp.2_Missense_Mutation_p.G162R	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	290					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AGTGACCATAGGATTCTGGAT	0.502000														71			20		0	0	0.00229938	0	0
PHGDH	26227	broad.mit.edu	37	1	120279790	120279791	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:120279790_120279791CC>AA	uc001ehz.3	+	7	1073_1074	c.846_847CC>AA	c.(844-849)ccccac>ccAAac	p.H283N	PHGDH_uc009whm.3_Missense_Mutation_p.H181N|PHGDH_uc001eib.3_Missense_Mutation_p.H249N	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	283					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TCAGCTGTCCCCACCTGGGTGC	0.594000														817			17		0	0	6.4e-05	0	0
FGFR1	2260	broad.mit.edu	37	8	38287320	38287320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:38287320G>A	uc022aua.1	-	2	1180	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	FGFR1_uc011lbu.2_Missense_Mutation_p.R113C|FGFR1_uc011lbv.2_Missense_Mutation_p.R80C|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Missense_Mutation_p.R80C|FGFR1_uc022aub.1_Missense_Mutation_p.R80C|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Missense_Mutation_p.R72C|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	80	Ig-like C2-type 1.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTGTGATGCGGGTGCGGTTG	0.667000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							10			5		0	0	0.00116845	0	0
IVL	3713	broad.mit.edu	37	1	152883861	152883861	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152883861C>T	uc021ozl.1	+	0	1588	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	IVL_uc001fau.3_Silent_p.L530L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	530	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				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)			ggaggggcagctgaaggacct	0.597000														13			15		0	0	0.00244969	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623645	21623645	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21623645G>A	uc010tlp.2	-	0	540	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTAGAGCAGGGGGTTACAAA	0.517000														18			8		0	0	0.000157383	0	0
GLRA1	2741	broad.mit.edu	37	5	151304061	151304061	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:151304061A>G	uc003lut.3	-	0	337	c.50T>C	c.(49-51)tTc>tCc	p.F17S	GLRA1_uc003lur.3_Missense_Mutation_p.F17S|GLRA1_uc003lus.3_5'UTR	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	17					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATACCTGAAGAATACAATGGT	0.458000														46			19		0	0	0.00047179	0	0
CAPN11	11131	broad.mit.edu	37	6	44137222	44137222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:44137222G>A	uc003owt.1	+	2	331	c.293G>A	c.(292-294)gGc>gAc	p.G98D		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	98	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			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)			AAGGACCTGGGCCCCAACTCC	0.572000														6			6		0	0	0.00116845	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170677	61170677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61170677C>T	uc002liz.4	+	6	992	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S		NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	284					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						GATGATTGATCCCAAGGCTTG	0.448000														50			60		0	0	0.000781405	0	0
SYT15	83849	broad.mit.edu	37	10	46965114	46965114	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46965114C>T	uc001jea.3	-	5	984	c.831G>A	c.(829-831)tcG>tcA	p.S277S	SYT15_uc001jdz.2_Silent_p.S277S|SYT15_uc001jeb.3_Silent_p.S155S|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	277						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGCCAAACTCCGAGGGGGGCT	0.637000														71			9		0	0	0.000442599	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784509	15784509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15784509G>A	uc002nbl.3	+	1	289	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F12_uc010xoo.2_Missense_Mutation_p.R57Q|CYP4F12_uc010xop.2_Missense_Mutation_p.R57Q	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCCAAAACGGAACTGGTTT	0.587000														77			31		0	0	0.00178596	0	0
SPINK6	404203	broad.mit.edu	37	5	147585614	147585614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:147585614G>A	uc003lpa.3	+	1	377	c.74G>A	c.(73-75)gGa>gAa	p.G25E	SPINK6_uc021yff.1_Missense_Mutation_p.G25E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	25	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTCAGGGAGGACAGGTC	0.388000														44			78		0	0	0.000781405	0	0
SCAND3	114821	broad.mit.edu	37	6	28542725	28542725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28542725G>A	uc003nlo.3	-	2	2375	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	586					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCCACCTTAGGAGTGACAGA	0.373000														18			9		0	0	0.000274275	0	0
PRDM16	63976	broad.mit.edu	37	1	3342733	3342733	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3342733C>T	uc001akf.3	+	13	3310	c.3228C>T	c.(3226-3228)atC>atT	p.I1076I	PRDM16_uc001ake.3_Silent_p.I1076I|PRDM16_uc009vlh.3_Silent_p.I776I|PRDM16_uc001akc.3_Silent_p.I1075I	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1076	Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		TCTCGGAAATCAGAAACTTTA	0.507000			T	EVI1	"""MDS, AML"""									84			12		0	0	0.00244969	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149660	63149660	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:63149660G>A	uc001nww.3	+	5	1252	c.984G>A	c.(982-984)ctG>ctA	p.L328L	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	328					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAGAACTGGAGGCAGCAC	0.408000														28			18		0	0	0.000958276	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057370	5057370	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:5057370A>C	uc002cye.2	+	12	1635	c.1455A>C	c.(1453-1455)ggA>ggC	p.G485G		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	485						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCCCCGAAGGAGGGCTGGTCC	0.602000														27			7		0	0	0.000442599	0	0
SFI1	9814	broad.mit.edu	37	22	32009473	32009473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32009473T>C	uc003ale.3	+	25	3092	c.2699T>C	c.(2698-2700)aTg>aCg	p.M900T	SFI1_uc003alf.3_Missense_Mutation_p.M869T|SFI1_uc003alg.3_Missense_Mutation_p.M818T|SFI1_uc011alp.2_Missense_Mutation_p.M806T|SFI1_uc011alq.2_Missense_Mutation_p.M845T|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_5'Flank|SFI1_uc003alj.3_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	900					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCAGCCAGCATGAAGGCCTCC	0.692000														25			5		0	0	0.000157383	0	0
LTBR	4055	broad.mit.edu	37	12	6499962	6499962	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6499962C>T	uc001qny.1	+	9	1335	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	LTBR_uc010sfc.1_Silent_p.P370P|LTBR_uc001qnz.1_Silent_p.P384P	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	389					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACCCCATTCCCGAAGAGGGGG	0.617000														46			28		0	0	0.000878237	0	0
ARID1B	57492	broad.mit.edu	37	6	157488186	157488186	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:157488186C>A	uc003qqp.3	+	8	2853	c.2853C>A	c.(2851-2853)ttC>ttA	p.F951L	ARID1B_uc003qqo.3_Missense_Mutation_p.F964L|ARID1B_uc003qqn.3_Missense_Mutation_p.F951L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	951					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAGGCAGTTTCCCCGGCATGA	0.522000														96			69		1.42954e-44	5.25284e-44	0.000781405	1	0
SLC22A25	387601	broad.mit.edu	37	11	62932071	62932071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62932071C>T	uc001nwr.1	-	7	1321	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	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.	441					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCTCCCACACCCAGGGTTGCC	0.478000														16			10		0	0	0.000673444	0	0
COL3A1	1281	broad.mit.edu	37	2	189859048	189859048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:189859048G>A	uc002uqj.1	+	17	1400	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	428	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)	CCTGGACTGCGAGGTGGTGCA	0.488000														67			19		0	0	0.00121646	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444391	26444392	+	Missense_Mutation	DNP	TC	GT	GT	rs138755245		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:26444391_26444392TC>GT	uc003nhz.3	+	3	535_536	c.292_293TC>GT	c.(292-294)tcg>GTg	p.S98V	BTN3A3_uc011dkn.2_Missense_Mutation_p.S56V|BTN3A3_uc021ynh.1_Missense_Mutation_p.S56V	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	98	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGGGAGAACTTCGATTCTGCGG	0.525000														76			17		0	0	6.4e-05	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098255	13098255	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:13098255C>T	uc002wod.1	+	7	1324	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	345					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)	GGGCCGTGGGCCCAACCGGCC	0.502000														35			61		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181767716	181767716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181767716G>A	uc009wxt.3	+	47	6883	c.6688G>A	c.(6688-6690)Gag>Aag	p.E2230K	CACNA1E_uc001gow.3_Missense_Mutation_p.E2187K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2168K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2230					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						CTACATCTCCGAGCCCTACTT	0.612000														20			11		0	0	0.000978159	0	0
C3	718	broad.mit.edu	37	19	6707818	6707818	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6707818C>T	uc002mfm.3	-	14	2030	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	656					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)		CACCTGCCCTCTGGGCGGTCT	0.672000														68			22		0	0	0.00188189	0	0
PRODH	5625	broad.mit.edu	37	22	18905843	18905843	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:18905843G>A	uc002zok.4	-	11	1617	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	PRODH_uc002zoj.4_Silent_p.N361N|PRODH_uc002zol.4_Silent_p.N363N	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	471					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGTACATGGCGTTGGTGGCCT	0.647000														134			56		0	0	0.000781405	0	0
COL1A1	1277	broad.mit.edu	37	17	48264133	48264133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48264133C>T	uc002iqm.3	-	47	3808	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1228					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)	ACCTCGAGGTCACGGTCACGA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							125			40		0	0	0.000781405	0	0
MIOS	54468	broad.mit.edu	37	7	7645580	7645580	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:7645580C>T	uc003srf.3	+	11	2717	c.2409C>T	c.(2407-2409)acC>acT	p.T803T	MIOS_uc003srg.3_Silent_p.T338T|MIOS_uc010ktq.3_Silent_p.T198T	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	803										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGGAGGAACCAAATCAGATG	0.318000														7			22		0	0	0.00152264	0	0
MLLT6	4302	broad.mit.edu	37	17	36873834	36873834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:36873834C>T	uc002hqi.4	+	10	1814	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	MLLT6_uc002hqj.3_Missense_Mutation_p.P36S|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	601					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCACCCTCCCCTCCTCTTC	0.682000			T	MLL	AL									44			9		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179597594	179597594	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597594T>A	uc021vsy.1	-	51	12802	c.12577A>T	c.(12577-12579)Agc>Tgc	p.S4193C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S854C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5120							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)			CTGTCTTTGCTTCCCACGGAA	0.433000														21			9		0	0	0.000673444	0	0
NFRKB	4798	broad.mit.edu	37	11	129756218	129756218	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129756218G>A	uc001qfg.3	-	2	619	c.498C>T	c.(496-498)tcC>tcT	p.S166S	NFRKB_uc001qfi.3_Silent_p.S153S|NFRKB_uc001qfh.3_Silent_p.S176S|NFRKB_uc010sbw.1_Silent_p.S153S	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	153					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTACACTCCGGGAAGCAAGAA	0.463000														88			78		0	0	0.000781405	0	0
DHX57	90957	broad.mit.edu	37	2	39088225	39088225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:39088225G>A	uc002rrf.3	-	4	1426	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.P443S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	443							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)				GTCCTAGAGGGTACTGGCAGA	0.378000														112			28		0	0	0.00178596	0	0
NEIL3	55247	broad.mit.edu	37	4	178256880	178256880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:178256880C>T	uc003iut.2	+	2	434	c.317C>T	c.(316-318)cCa>cTa	p.P106L	NEIL3_uc010irs.3_Missense_Mutation_p.P9L	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	106					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGATTAATCCACTTGAGTAT	0.338000								Base excision repair (BER), DNA glycosylases						57			27		0	0	0.00106085	0	0
GPR128	84873	broad.mit.edu	37	3	100378648	100378648	+	Missense_Mutation	SNP	C	T	T	rs144717099		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:100378648C>T	uc003duc.3	+	13	2208	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	GPR128_uc011bhc.2_Missense_Mutation_p.S348L|GPR128_uc003dud.3_Missense_Mutation_p.S170L	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	647					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTACAATCTCGATCAAAGTG	0.438000														39			12		0	0	0.00136819	0	0
FDXR	2232	broad.mit.edu	37	17	72860060	72860060	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72860060C>A	uc010wrl.2	-	9	1348	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	FDXR_uc010wri.2_Missense_Mutation_p.G326W|FDXR_uc010wrj.2_Missense_Mutation_p.G376W|FDXR_uc002jlw.3_Missense_Mutation_p.G135W|FDXR_uc002jlx.3_Missense_Mutation_p.G384W|FDXR_uc002jly.3_Missense_Mutation_p.G378W|FDXR_uc010wrk.2_Missense_Mutation_p.G409W|FDXR_uc010wrm.2_Missense_Mutation_p.G338W|FDXR_uc002jlz.3_Missense_Mutation_p.G370W|FDXR_uc002jmb.3_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	378					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGATGACCCCAAGCTTGGAG	0.592000														228			9		0.000978159	0.00354052	0.000978159	1	0
NR5A2	2494	broad.mit.edu	37	1	200143153	200143153	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200143153C>T	uc001gvb.3	+	7	1647	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	NR5A2_uc001gvc.3_Silent_p.L435L|NR5A2_uc009wzh.3_Silent_p.L441L|NR5A2_uc010pph.2_Silent_p.L409L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	481					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)					CAATGCCGCCCTGCTGGACTA	0.433000														21			7		0	0	0.00198382	0	0
RGPD4	285190	broad.mit.edu	37	2	108477284	108477284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108477284G>A	uc010ywk.2	+	12	1903	c.1821G>A	c.(1819-1821)tgG>tgA	p.W607*	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	607					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCATTATTGGAAGAAAGTTT	0.323000														81			74		0	0	0.000781405	0	0
GGA3	23163	broad.mit.edu	37	17	73257652	73257653	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:73257652_73257653CC>TT	uc002jni.2	-	0	55_56	c.16_17GG>AA	c.(16-18)ggg>AAg	p.G6K	GGA3_uc002jnk.2_5'UTR|GGA3_uc002jnj.2_Missense_Mutation_p.G6K|GGA3_uc010wry.2_Intron|GGA3_uc010wrw.2_Intron|GGA3_uc010wrx.2_5'UTR|GGA3_uc010wrz.2_Missense_Mutation_p.G6K|MRPS7_uc002jnm.4_5'Flank	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	6	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGCTTTCCCCTTCCGCCTCC	0.698000														27			7		0	0	6.4e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95906253	95906253	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:95906253G>T	uc003yhc.3	-	2	213	c.109C>A	c.(109-111)Cag>Aag	p.Q37K	CCNE2_uc003yhd.2_Missense_Mutation_p.Q37K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	37					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TAAATCACCTGGGTAGTTTTC	0.468000														567			13		0.000308642	0.00112034	0.000308642	1	0
BBS4	585	broad.mit.edu	37	15	73002052	73002052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:73002052C>T	uc002avd.3	+	2	450	c.112C>T	c.(112-114)Cct>Tct	p.P38S	BBS4_uc010ukv.2_Missense_Mutation_p.P18S|BBS4_uc002avb.3_Missense_Mutation_p.P30S|BBS4_uc002avc.3_5'UTR	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	30	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCCAGAGTTTCCTATTTTGGA	0.358000									Bardet-Biedl syndrome					82			43		0	0	0.000781405	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609702	96609702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96609702C>T	uc010qnz.2	+	7	1178	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	CYP2C19_uc010qny.2_Missense_Mutation_p.S371F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	393					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)	TCCCTCACTTCTGTGCTACAT	0.398000														23			23		0	0	0.000586117	0	0
C5orf51	285636	broad.mit.edu	37	5	41909989	41909989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41909989C>T	uc003jmo.3	+	2	349	c.349C>T	c.(349-351)Cca>Tca	p.P117S		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	117										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TAATATGCATCCAAAAGTAAG	0.308000														24			5		0	0	0.000602214	0	0
PRR16	51334	broad.mit.edu	37	5	120021865	120021865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:120021865C>T	uc003ksq.3	+	1	539	c.376C>T	c.(376-378)Cct>Tct	p.P126S	PRR16_uc003ksp.3_Missense_Mutation_p.P103S|PRR16_uc003ksr.3_Missense_Mutation_p.P56S	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512000														16			26		0	0	0.00127121	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:101186048C>T	uc001dti.3	+	1	302	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_uc010ouj.2_Silent_p.I27I|VCAM1_uc001dtj.3_Silent_p.I27I	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I27M(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408000														65			9		0	0	0.000673444	0	0
LRFN2	57497	broad.mit.edu	37	6	40399839	40399839	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:40399839G>A	uc003oph.1	-	1	1479	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	338	Ig-like.					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)					CATTGTCATAGACAGCGGTCC	0.602000														20			15		0	0	0.00244969	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160664998	160664998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:160664998G>A	uc002ubb.4	-	32	4858	c.4784C>T	c.(4783-4785)aCc>aTc	p.T1595I	LY75-CD302_uc010fos.3_Missense_Mutation_p.T1595I|LY75-CD302_uc002ubc.4_Missense_Mutation_p.T1595I	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1595	C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										AACTCTCATGGTAATGTTATT	0.338000														76			21		0	0	0.00152264	0	0
ARMC9	80210	broad.mit.edu	37	2	232104718	232104718	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:232104718C>T	uc002vrq.4	+	8	955	c.843C>T	c.(841-843)agC>agT	p.S281S	ARMC9_uc002vrp.4_Silent_p.S281S	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	281							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGCGGCAGAGCCTGGCGCATA	0.557000														11			11		0	0	0.000978159	0	0
OR4K5	79317	broad.mit.edu	37	14	20389615	20389615	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20389615C>A	uc010tkw.2	+	0	850	c.850C>A	c.(850-852)Ccc>Acc	p.P284T		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGTCCTAAACCCCATTATTTA	0.408000														93			12		1.08611e-07	3.95801e-07	0.000978159	1	0
GRM7	2917	broad.mit.edu	37	3	7620609	7620609	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:7620609C>T	uc003bqm.2	+	7	2290	c.2016C>T	c.(2014-2016)gcC>gcT	p.A672A	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.A672A|GRM7_uc003bql.2_Silent_p.A672A|GRM7_uc003bqn.1_Silent_p.A255A|GRM7_uc010hch.1_Silent_p.A183A	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	672					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTTATGCAGCCCTCTTGACGA	0.458000														53			22		0	0	0.00152264	0	0
CRLF1	9244	broad.mit.edu	37	19	18707711	18707711	+	Silent	SNP	C	T	T	rs137853928		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:18707711C>T	uc010ebt.2	-	4	1040	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	282	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCTTCCAGTCCACACTGTCCT	0.637000														53			13		0	0	0.00136819	0	0
OR2G6	391211	broad.mit.edu	37	1	248685470	248685470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248685470G>A	uc001ien.1	+	0	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGCACACTGGATCATATTTT	0.537000														52			18		0	0	0.00074312	0	0
MYH9	4627	broad.mit.edu	37	22	36714331	36714331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36714331G>A	uc003apg.3	-	10	1379	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	MYH9_uc003aph.1_Missense_Mutation_p.T247I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	383	Myosin head-like.				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						GGTGAAATCGGTCACATTGAT	0.502000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					171			270		0	0	0.000781405	0	0
TAF7L	54457	broad.mit.edu	37	X	100533048	100533048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:100533048G>A	uc004ehb.3	-	7	850	c.824C>T	c.(823-825)gCc>gTc	p.A275V	TAF7L_uc004eha.3_Missense_Mutation_p.A189V|TAF7L_uc004ehc.2_Missense_Mutation_p.A189V	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	275					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GGTACTTACGGCTTCAGCATC	0.453000														24			18		0	0	0.00152264	0	0
ALPK2	115701	broad.mit.edu	37	18	56246784	56246784	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56246784T>G	uc002lhj.4	-	3	1438	c.1224A>C	c.(1222-1224)caA>caC	p.Q408H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	408							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						CCCCAACTTCTTGGGGTTGTG	0.562000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			10		0	0	0.000442599	0	0
PIPSL	266971	broad.mit.edu	37	10	95720783	95720783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95720783C>T	uc009xuj.2	-	0	890	c.371G>A	c.(370-372)gGa>gAa	p.G124E						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		ACCACTAGCTCCAGAGCTACA	0.502000														14			15		0	0	0.00244969	0	0
KIF27	55582	broad.mit.edu	37	9	86504117	86504117	+	Nonsense_Mutation	SNP	G	A	A	rs148451065		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86504117G>A	uc004ana.3	-	6	2005	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	KIF27_uc010mpw.3_Nonsense_Mutation_p.R621*|KIF27_uc010mpx.3_Nonsense_Mutation_p.R621*	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	621					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCGTGTTCGAAATCCAGCA	0.418000														107			115		0	0	0.000781405	0	0
RGS11	8786	broad.mit.edu	37	16	320987	320987	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:320987G>A	uc002cgj.1	-	12	978	c.975C>T	c.(973-975)ttC>ttT	p.F325F	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.F304F|RGS11_uc010bqs.1_Silent_p.F314F|RGS11_uc002cgk.1_Silent_p.F141F	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	325	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCTCACCACTGAACTCCTTTC	0.677000														12			13		0	0	0.000308642	0	0
FABP6	2172	broad.mit.edu	37	5	159661850	159661850	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:159661850G>A	uc003lya.1	+	2	395	c.267G>A	c.(265-267)ggG>ggA	p.G89G	FABP6_uc003lxx.1_Silent_p.G138G|FABP6_uc003lxz.1_Silent_p.G138G|HI423497_uc021ygz.1_5'Flank	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	89					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGGCGGGAAGCTGGTGG	0.547000														29			9		0	0	0.000673444	0	0
SHROOM2	357	broad.mit.edu	37	X	9900626	9900626	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:9900626C>T	uc004csu.1	+	5	3393	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1101					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCTGCGTCCCTGGATGTGT	0.687000														20			9		0	0	0.000274275	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733493	56733493	+	Silent	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56733493T>A	uc002qmq.3	-	4	1108	c.942A>T	c.(940-942)ggA>ggT	p.G314G	ZSCAN5A_uc010ygi.2_Silent_p.G197G|ZSCAN5A_uc002qmr.3_Silent_p.G314G|ZSCAN5A_uc002qms.1_Silent_p.G313G	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGTGGCTTCTCCTTGAGGCT	0.562000														99			40		0	0	0.00148497	0	0
GRM1	2911	broad.mit.edu	37	6	146350696	146350696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:146350696G>A	uc010khw.1	+	1	513	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GRM1_uc010khu.1_Missense_Mutation_p.E15K|GRM1_uc010khv.1_Missense_Mutation_p.E15K|GRM1_uc003qll.2_Missense_Mutation_p.E15K|GRM1_uc011edz.1_Missense_Mutation_p.E15K|GRM1_uc011eea.1_Missense_Mutation_p.E15K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	15					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATCTTTTTGGAGGTGTCCCT	0.602000														72			44		0	0	0.000781405	0	0
RNMT	8731	broad.mit.edu	37	18	13742548	13742548	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:13742548C>T	uc002ksk.1	+	6	1103	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	RNMT_uc002ksl.1_Nonsense_Mutation_p.Q346*|RNMT_uc002ksm.1_Nonsense_Mutation_p.Q346*|RNMT_uc010dlk.2_Nonsense_Mutation_p.Q346*|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	346					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGTGAAATTTCAGAAGAAAGG	0.338000														116			28		0	0	0.000720815	0	0
MKL1	57591	broad.mit.edu	37	22	40814646	40814646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40814646G>A	uc003ayv.1	-	8	2003	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	MKL1_uc010gyf.1_Missense_Mutation_p.P549L|MKL1_uc003ayw.1_Missense_Mutation_p.P599L|MKL1_uc010gye.1_Missense_Mutation_p.P599L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	599	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGCCAGGCTGGGGTTGAATGG	0.711000			T	RBM15	acute megakaryocytic leukemia									32			9		0	0	0.000978159	0	0
OR11H12	440153	broad.mit.edu	37	14	19378112	19378112	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:19378112C>T	uc010tkp.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTTCCTGATCCCCATTGTTC	0.483000														149			15		0	0	0.000878237	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878020	76878020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:76878020C>T	uc001dhh.2	+	2	704	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.P181S|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.P116S	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	181					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGGTATCTATCCGAATGCCCA	0.423000														38			12		0	0	0.00244969	0	0
DNAH10	196385	broad.mit.edu	37	12	124335526	124335526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124335526C>T	uc001uft.4	+	33	5865	c.5840C>T	c.(5839-5841)tCg>tTg	p.S1947L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1947	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCCCGAGTCGGTGAAGGCG	0.617000														37			15		0	0	0.000308642	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319587	43319587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:43319587G>A	uc010dnk.3	+	8	1296	c.1074G>A	c.(1072-1074)atG>atA	p.M358I	SLC14A1_uc002lbi.4_Missense_Mutation_p.M170I|SLC14A1_uc010xcn.2_Missense_Mutation_p.M302I|SLC14A1_uc002lbf.4_Missense_Mutation_p.M302I|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.M197I|SLC14A1_uc002lbh.4_Missense_Mutation_p.M194I|SLC14A1_uc002lbj.4_Missense_Mutation_p.M358I|SLC14A1_uc002lbk.4_Missense_Mutation_p.M302I|SLC14A1_uc021ujg.1_Nonsense_Mutation_p.W253*	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.	302						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						GAATGTTCATGGCGCTCACCT	0.547000														95			19		0	0	0.00121646	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54474787	54474787	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54474787G>A	uc001cwm.1	-	5	504	c.486C>T	c.(484-486)ccC>ccT	p.P162P	LDLRAD1_uc010onz.1_3'UTR|LDLRAD1_uc010ooa.1_Silent_p.P119P|LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA.	162	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						CAGGGCCGCAGGGTGGGCACA	0.582000														136			38		0	0	0.00170553	0	0
FAM70B	348013	broad.mit.edu	37	13	114502317	114502317	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:114502317G>A	uc001vuh.3	+	4	375	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	116						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TCTAGGAACCGAGGCCCCTCA	0.547000														30			8		0	0	0.000274275	0	0
FRMD7	90167	broad.mit.edu	37	X	131212788	131212788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131212788C>T	uc004ewn.3	-	11	1435	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	FRMD7_uc022cdy.1_Missense_Mutation_p.M299I|FRMD7_uc011muy.2_Missense_Mutation_p.M404I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	419					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGACAGGGTCCATATAAATAA	0.448000														3			100		0	0	0.000781405	0	0
NRXN3	9369	broad.mit.edu	37	14	79181202	79181202	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:79181202C>T	uc001xun.3	+	4	1136	c.645C>T	c.(643-645)aaC>aaT	p.N215N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.N349N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	221	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCCGGAGAACCGTGCTGGCC	0.592000														22			38		0	0	0.000692331	0	0
SPEG	10290	broad.mit.edu	37	2	220348742	220348742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220348742C>T	uc010fwg.3	+	29	6557	c.6557C>T	c.(6556-6558)cCc>cTc	p.P2186L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2186	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCCCAAACCCAGTACCCCT	0.672000														47			10		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	8976641	8976641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8976641G>A	uc002mkp.3	-	73	42539	c.42335C>T	c.(42334-42336)cCc>cTc	p.P14112L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P912L|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14143	SEA 14.			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						CTGGAACAAGGGTCTGAGCTT	0.567000														14			14		0	0	0.000422831	0	0
BRD4	23476	broad.mit.edu	37	19	15350470	15350470	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15350470G>A	uc002nar.3	-	16	3667	c.3445_splice	c.e16+1	p.R1149_splice		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1149					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)			GAGCACTCACGCTGGGGCAGG	0.701000			T	C15orf55	lethal midline carcinoma of young people									40			40		0	0	0.00195071	0	0
EVI5L	115704	broad.mit.edu	37	19	7912715	7912715	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:7912715C>T	uc010xjz.2	+	1	282	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	EVI5L_uc002min.3_Silent_p.L79L	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	79						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTCCAACCTGAGCCACCT	0.662000														21			9		0	0	0.000274275	0	0
IFNA5	3442	broad.mit.edu	37	9	21305016	21305016	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:21305016G>A	uc011lnh.2	-	0	297	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	80					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			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATCTCATGGAGGACAGAGA	0.468000														7			27		0	0	0.000720815	0	0
IGSF21	84966	broad.mit.edu	37	1	18692034	18692034	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:18692034C>T	uc001bau.2	+	5	1241	c.858C>T	c.(856-858)ttC>ttT	p.F286F	IGSF21_uc001bav.2_Silent_p.F107F	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	286						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)		CCACCTACTTCCTGCGCCACA	0.622000														87			55		0	0	0.000781405	0	0
BEND3	57673	broad.mit.edu	37	6	107391958	107391958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:107391958G>A	uc003prs.2	-	4	1087	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	146								p.S146L(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGGTCCCCCGAGGGAGGATT	0.572000														52			37		0	0	0.00195071	0	0
SCRN2	90507	broad.mit.edu	37	17	45915985	45915985	+	Missense_Mutation	SNP	G	A	A	rs142383711	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45915985G>A	uc002imd.3	-	5	976	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SCRN2_uc002imf.3_Missense_Mutation_p.R284C	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	284					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCGTGGTGCGAAAGCCTCCC	0.607000														44			17		0	0	0.00121646	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037128	129037128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:129037128G>A	uc003kvb.1	+	19	2984	c.2984G>A	c.(2983-2985)gGa>gAa	p.G995E	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	995	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGGAAAAGGAATGCAGAGC	0.488000														55			17		0	0	0.00121646	0	0
TICAM1	148022	broad.mit.edu	37	19	4816466	4816467	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:4816466_4816467GG>AA	uc002mbi.3	-	1	2174_2175	c.1923_1924CC>TT	c.(1921-1926)ccccca>ccTTca	p.P642S	TICAM1_uc021unj.1_Missense_Mutation_p.P642S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	642	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488).	I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGGGCGGTGGGGGGGTGCCAG	0.733000														17			5		0	0	6.4e-05	0	0
SLFN11	91607	broad.mit.edu	37	17	33690150	33690150	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33690150T>A	uc002hjg.4	-	1	924	c.677A>T	c.(676-678)tAt>tTt	p.Y226F	SLFN11_uc010ctr.3_Missense_Mutation_p.Y226F|SLFN11_uc010ctp.3_Missense_Mutation_p.Y226F|SLFN11_uc010ctq.3_Missense_Mutation_p.Y226F|SLFN11_uc002hjh.4_Missense_Mutation_p.Y226F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	226						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)		CCTTTTTACATATTCTTGGAA	0.383000														24			61		0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124399401	124399401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124399401G>A	uc001uft.4	+	60	10248	c.10223G>A	c.(10222-10224)tGg>tAg	p.W3408*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3408	AAA 5 (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)		TCTTCCAGATGGGGATCCCAG	0.562000														21			7		0	0	0.000157383	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336230	147336230	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:147336230T>G	uc003weu.2	+	12	2446	c.1930T>G	c.(1930-1932)Ttg>Gtg	p.L644V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	644	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCTCATGACTTGCAGATGCA	0.478000										HNSCC(39;0.1)				111			29		0	0	0.00058488	0	0
MYH4	4622	broad.mit.edu	37	17	10355617	10355617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10355617C>T	uc002gmn.3	-	26	3490	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1127					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						CGCTCTGCCTCGATTTCCTCC	0.552000														27			30		0	0	0.00209593	0	0
APOB	338	broad.mit.edu	37	2	21229420	21229420	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21229420G>A	uc002red.3	-	25	10448	c.10320C>T	c.(10318-10320)ttC>ttT	p.F3440F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3440	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			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)	GTTCTTGCTTGAAATTCATTC	0.373000														275			215		0	0	0.000781405	0	0
ZNF665	79788	broad.mit.edu	37	19	53668809	53668809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53668809G>A	uc010eqm.1	-	3	1034	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCCCCAGTATGAATTCTTCGA	0.433000														167			42		0	0	0.000781405	0	0
LEMD1	93273	broad.mit.edu	37	1	205350880	205350880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205350880C>T	uc001hcj.2	-	5	587	c.452G>A	c.(451-453)gGt>gAt	p.G151D	LEMD1_uc001hcl.2_Missense_Mutation_p.G110D|LEMD1_uc001hci.2_Missense_Mutation_p.V104I|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.V63I|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	151						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CACTGGGAAACCTTCTTCTCT	0.463000														218			52		0	0	0.000781405	0	0
MRPS24	64951	broad.mit.edu	37	7	43906562	43906562	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:43906562G>A	uc003tit.1	-	3	291	c.240C>T	c.(238-240)gaC>gaT	p.D80D	URGCP_uc022acg.1_3'UTR	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	80					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTGCGGCATGGTCCTCTCCAT	0.552000														15			60		0	0	0.000781405	0	0
ENPP3	5169	broad.mit.edu	37	6	131997883	131997883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:131997883C>T	uc003qcu.4	+	10	1227	c.880C>T	c.(880-882)Cca>Tca	p.P294S	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.P294S|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	294	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAGAAGTGTCCCATTTGAAGA	0.348000														18			7		0	0	0.000274275	0	0
CCDC41	51134	broad.mit.edu	37	12	94703864	94703864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:94703864C>T	uc001tdd.3	-	15	2417	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	CCDC41_uc001tde.3_Missense_Mutation_p.D611N|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	603										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTTGTATAGTCTTCAAAAGGA	0.294000														17			23		0	0	0.00188189	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618646	77618646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77618646G>A	uc003yau.2	+	1	2710	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	ZFHX4_uc003yat.1_Missense_Mutation_p.E775K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E775K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	775						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)			TTGTGATTATGAAACCAATGT	0.507000										HNSCC(33;0.089)				17			9		0	0	0.000673444	0	0
DNAH8	1769	broad.mit.edu	37	6	38835890	38835890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38835890G>A	uc021yzh.1	+	47	6855	c.6746G>A	c.(6745-6747)gGa>gAa	p.G2249E	DNAH8_uc003ooe.2_Missense_Mutation_p.G2032E	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						AGGACTCTTGGATCTCAAAAA	0.363000														52			20		0	0	0.000958276	0	0
SIN3B	23309	broad.mit.edu	37	19	16976290	16976290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16976290C>T	uc002ney.2	+	11	1572	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	SIN3B_uc002nez.2_Missense_Mutation_p.R485W|SIN3B_uc010xpi.1_Missense_Mutation_p.R75W	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	517	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				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						GAAGCTATCTCGGATGGCGCC	0.582000														45			38		0	0	0.00128727	0	0
GLIS1	148979	broad.mit.edu	37	1	54060405	54060405	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54060405G>A	uc001cvr.1	-	2	738	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	57					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						TGCCCTCGGGGAGGTGGGTCT	0.701000														11			14		0	0	0.00244969	0	0
MYO9A	4649	broad.mit.edu	37	15	72119333	72119333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72119333G>A	uc002atl.4	-	41	7708	c.7235C>T	c.(7234-7236)tCc>tTc	p.S2412F	MYO9A_uc002atk.3_Missense_Mutation_p.S1207F	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2412	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			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						CAACTTGCTGGAAGGTTCAGA	0.443000														35			10		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179477638	179477638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179477638C>T	uc021vsy.1	-	213	42331	c.42106G>A	c.(42106-42108)Ggg>Agg	p.G14036R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7731R|TTN_uc021vta.1_Missense_Mutation_p.G7664R|TTN_uc021vtb.1_Missense_Mutation_p.G7539R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14963	Fibronectin type-III 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)			GTGGGAACCCCTTCCGCCACT	0.493000														17			8		0	0	0.000442599	0	0
GPHN	10243	broad.mit.edu	37	14	67525457	67525457	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:67525457C>T	uc001xiy.3	+	9	2120	c.999C>T	c.(997-999)gtC>gtT	p.V333V	GPHN_uc001xiw.3_Silent_p.V348V|GPHN_uc001xix.3_Silent_p.V366V|GPHN_uc010tss.2_Silent_p.V379V|GPHN_uc010tst.2_Silent_p.V302V|GPHN_uc010tsu.2_Silent_p.V256V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	333	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTATCACAGTCCTGGAGATGA	0.418000			T	MLL	AL									127			39		0	0	0.00128727	0	0
PPP6C	5537	broad.mit.edu	37	9	127920583	127920583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:127920583G>A	uc010mwv.3	-	4	648	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	PPP6C_uc004bpg.4_Missense_Mutation_p.R106C|PPP6C_uc010mww.3_Missense_Mutation_p.R84C|PPP6C_uc011lzr.2_Intron	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	106					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AGTGTAATACGATCAGGCCAT	0.353000														115			114		0	0	0.000781405	0	0
C9orf174	100499483	broad.mit.edu	37	9	100127970	100127970	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:100127970C>T	uc011lut.2	+	43	5551	c.4545C>T	c.(4543-4545)atC>atT	p.I1515I	C9orf174_uc004axe.2_Silent_p.I1321I|C9orf174_uc011lus.2_Silent_p.I1102I|C9orf174_uc004axg.2_Silent_p.I1376I|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1321						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						TTAAGGGGATCATCTTGACCC	0.552000														94			21		0	0	0.000720815	0	0
CCDC147	159686	broad.mit.edu	37	10	106118293	106118293	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:106118293T>A	uc001kyh.3	+	1	338	c.204T>A	c.(202-204)aaT>aaA	p.N68K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	68										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)		GAGAGCTAAATGCAGAGATTG	0.433000														18			11		0	0	0.000673444	0	0
GABBR1	2550	broad.mit.edu	37	6	29572397	29572397	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29572397G>A	uc003nmt.4	-	21	2922	c.2586C>T	c.(2584-2586)acC>acT	p.T862T	GABBR1_uc003nmp.4_Silent_p.T745T|GABBR1_uc003nms.4_Silent_p.T745T|GABBR1_uc003nmu.4_Silent_p.T800T|GABBR1_uc011dlr.2_Silent_p.T685T	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	862					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATTCCCCTCGGGTGATCAGCC	0.587000														32			52		0	0	0.000781405	0	0
C17orf53	78995	broad.mit.edu	37	17	42226383	42226384	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:42226383_42226384CC>TT	uc002ifi.2	+	2	1449_1450	c.1212_1213CC>TT	c.(1210-1215)atcctg>atTTtg	p.404_405IL>IL	C17orf53_uc010czq.2_Silent_p.404_405IL>IL|C17orf53_uc002ifj.2_Silent_p.404_405IL>IL|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.	404										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)		CAGCTGGGATCCTGCCTCACCA	0.614000														21			11		0	0	6.4e-05	0	0
WWC1	23286	broad.mit.edu	37	5	167868776	167868776	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167868776G>A	uc003lzu.3	+	15	2463	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	WWC1_uc003lzv.3_Silent_p.K790K|WWC1_uc011den.2_Silent_p.K790K|WWC1_uc003lzw.3_Silent_p.K589K|WWC1_uc010jjf.1_Silent_p.K57K	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	790					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AATACTTGAAGAAACAGAGCA	0.622000														28			12		0	0	0.00136819	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:65517309C>T	uc003xvj.2	-	4	1367	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453000														47			32		0	0	0.0024448	0	0
BBC3	27113	broad.mit.edu	37	19	47725012	47725013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47725012_47725013GG>AA	uc010xyl.2	-	3	895_896	c.731_732CC>TT	c.(730-732)ccc>cTT	p.P244L	BBC3_uc002pgf.4_3'UTR|BBC3_uc010eky.3_3'UTR|BBC3_uc010ekz.3_Missense_Mutation_p.P84L	NM_001127240	NP_055232	Q9BXH1	BBC3_HUMAN	Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTGGGAGGGGCCTGCCCCC	0.708000														10			9		0	0	6.4e-05	0	0
PCM1	5108	broad.mit.edu	37	8	17822259	17822259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:17822259G>A	uc022asj.1	+	16	2976	c.2954G>A	c.(2953-2955)gGa>gAa	p.G985E	PCM1_uc003wyi.4_Missense_Mutation_p.G946E|PCM1_uc011kyh.2_Missense_Mutation_p.G946E|PCM1_uc003wyj.4_Missense_Mutation_p.G947E	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	946					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TCCTACAATGGAAAGGAAACT	0.383000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									28			22		0	0	0.00278032	0	0
TCRVA15	0	broad.mit.edu	37	14	22205169	22205169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22205169C>T	uc001wbp.2	+	1	282	c.233C>T	c.(232-234)tCc>tTc	p.S78F	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GAAGTGGCCTCCCTGTTTATC	0.498000														20			9		0	0	0.000442599	0	0
NDST4	64579	broad.mit.edu	37	4	115858526	115858526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:115858526G>A	uc003ibu.3	-	4	2034	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			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)		TTTCAGATGTGGATATTCTTC	0.468000														26			46		0	0	0.000781405	0	0
ATAD3C	219293	broad.mit.edu	37	1	1403781	1403781	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:1403781C>T	uc001aft.2	+	11	2102	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	369							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGTATGCCTCCAAGGACGGGG	0.667000														67			6		0	0	0.000442599	0	0
LBH	81606	broad.mit.edu	37	2	30480424	30480424	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30480424C>T	uc002rne.2	+	2	463	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	85					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CTGAGGAGTTCCTGGTCCAGG	0.577000														55			16		0	0	0.000566183	0	0
EIF2C2	27161	broad.mit.edu	37	8	141545600	141545600	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:141545600G>A	uc003yvn.3	-	16	2279	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	EIF2C2_uc010meo.3_Intron|EIF2C2_uc010men.3_Silent_p.F669F	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	746	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGTAGAAGTCGAACTCGGTGG	0.562000														79			28		0	0	0.00209593	0	0
KRT32	3882	broad.mit.edu	37	17	39623238	39623239	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39623238_39623239CC>TA	uc002hwr.3	-	0	400_401	c.339_340GG>TA	c.(337-342)agggtg>agTAtg	p.113_114RV>SM		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	113	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGCTGCCGCACCCTCGTCAGGT	0.594000														78			44		0	0	6.4e-05	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590032	115590032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115590032C>T	uc004eqi.3	+	13	1971	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GGAACAACATCGTGGGGAAAG	0.408000														5			45		0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122002548	122002548	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:122002548A>G	uc003eew.4	+	6	2215	c.1777A>G	c.(1777-1779)Aac>Gac	p.N593D	CASR_uc003eev.4_Missense_Mutation_p.N583D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	583					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)	CAGTGCCTGTAACAAGTGCCC	0.488000														53			27		0	0	0.00178596	0	0
TIMP4	7079	broad.mit.edu	37	3	12198371	12198372	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:12198371_12198372GG>TT	uc003bwo.3	-	2	811_812	c.300_301CC>AA	c.(298-303)tccctc>tcAAtc	p.L101I	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	101	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ACACCACAGAGGGAAGAGTCAA	0.401000														566			11		0	0	6.4e-05	0	0
CCDC157	550631	broad.mit.edu	37	22	30770064	30770064	+	Silent	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30770064C>G	uc011aku.2	+	8	2316	c.1656C>G	c.(1654-1656)acC>acG	p.T552T	CCDC157_uc011akv.2_Silent_p.T552T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	552										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACAGGCCCACCGAGACCCAGA	0.667000														8			18		0	0	0.000566183	0	0
FAM71C	196472	broad.mit.edu	37	12	100043168	100043168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:100043168G>A	uc001tgn.3	+	1	1143	c.718G>A	c.(718-720)Gag>Aag	p.E240K	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.	240										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)		TTATACAATAGAGATATGAAT	0.413000														90			32		0	0	0.00058488	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038926	17038926	+	Missense_Mutation	SNP	C	T	T	rs61742969		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17038926C>T	uc002nfb.3	-	24	3436	c.3404G>A	c.(3403-3405)cGa>cAa	p.R1135Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1088						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						CCTCCAGATTCGGAATTCACC	0.627000														56			40		0	0	0.00222228	0	0
ITGAD	3681	broad.mit.edu	37	16	31426181	31426181	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31426181G>A	uc010cap.1	+	18	2204	c.2155_splice	c.e18-1	p.D719_splice	ITGAD_uc002ebv.1_Splice_Site_p.D718_splice	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	718					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						TCTCTCTCAGGATTGTGTGGA	0.587000														51			80		0	0	0.000781405	0	0
OR2L8	391190	broad.mit.edu	37	1	248112603	248112603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248112603G>A	uc001idt.1	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGGGTCTTGGATCATAGGCT	0.443000														118			65		0	0	0.000781405	0	0
ADHFE1	137872	broad.mit.edu	37	8	67364250	67364250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67364250C>T	uc003xwb.4	+	8	831	c.797C>T	c.(796-798)cCc>cTc	p.P266L	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.P218L|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.P196L|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	266					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCTTCAAATCCCATCACACGG	0.537000														42			16		0	0	0.000422831	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156856	72156856	+	Nonsense_Mutation	SNP	G	A	A	rs140352254		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:72156856G>A	uc002fcc.4	-	18	2912	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.R909*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.R764*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	914										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)				ACCTGCTCTCGGAGCTGGTTT	0.532000														75			25		0	0	0.0024448	0	0
WIPF2	147179	broad.mit.edu	37	17	38434469	38434469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38434469C>T	uc002hug.1	+	7	1555	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	WIPF2_uc002huh.1_Missense_Mutation_p.L289F|WIPF2_uc010cww.1_Missense_Mutation_p.L289F|WIPF2_uc002hui.1_Missense_Mutation_p.L439F|WIPF2_uc010cwx.1_Missense_Mutation_p.L181F|WIPF2_uc010cwy.1_Missense_Mutation_p.L439F	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	439						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GCCACCCATTCTCAGGTGAAG	0.512000										HNSCC(43;0.11)				16			4		0	0	0.00116845	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953720	140953720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140953720G>A	uc003llb.4	-	15	1838	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	DIAPH1_uc003llc.4_Missense_Mutation_p.S557F|DIAPH1_uc021yep.1_Missense_Mutation_p.S566F|DIAPH1_uc021yeq.1_Missense_Mutation_p.S557F|DIAPH1_uc010jgc.1_Missense_Mutation_p.S5F	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	566					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCCGCAGAGAGGGAAGC	0.498000														31			20		0	0	0.00278032	0	0
PSD2	84249	broad.mit.edu	37	5	139193033	139193033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:139193033G>A	uc003leu.1	+	2	716	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	171					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S170S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAGAGCGACAGCTGCGT	0.657000														39			15		0	0	0.000308642	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024874	5024875	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:5024874_5024875GG>AA	uc003bqf.3	+	4	1043_1044	c.736_737GG>AA	c.(736-738)gga>AAa	p.G246K	BHLHE40_uc011asw.2_Missense_Mutation_p.G106K	NM_003670	NP_003661	O14503	BHE40_HUMAN	Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA.	246						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CAGTGGCTATGGAGGAGAATCG	0.584000														48			25		0	0	6.4e-05	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993259	140993259	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:140993259G>A	uc004fbt.3	+	3	393	c.69G>A	c.(67-69)caG>caA	p.Q23Q	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	23							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)					AGAGTCCTCAGAGTTGTCCTG	0.567000										HNSCC(15;0.026)				2			53		0	0	0.000781405	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232577037	232577037	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:232577037G>A	uc001hvg.3	-	12	3800	c.3642_splice	c.e12+1	p.H1214_splice	SIPA1L2_uc001hvf.3_Splice_Site_p.H288_splice	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1214					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)				AAGGACTTACGTGAGAAAGCT	0.493000														501			118		0	0	0.000781405	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751897	81751897	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81751897C>T	uc001szo.2	-	15	1898	c.1737G>A	c.(1735-1737)agG>agA	p.R579R	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.R505R|PPFIA2_uc021rbh.1_Silent_p.R480R|PPFIA2_uc021rbi.1_Silent_p.R579R|PPFIA2_uc021rbj.1_Silent_p.R579R|PPFIA2_uc021rbk.1_Silent_p.R561R|PPFIA2_uc021rbl.1_Silent_p.R579R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.R146R|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.	505										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						TGCGGCCTCTCCTTGGTCTTC	0.408000														6			5		0	0	0.00116845	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:166963267G>A	uc001gdy.1	+	4	555	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_uc021peh.1_Missense_Mutation_p.E106K|MAEL_uc001gdz.1_Missense_Mutation_p.E131K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	162					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTATAGGTGAAATTCCACG	0.348000														36			7		0	0	0.000274275	0	0
PDILT	204474	broad.mit.edu	37	16	20373815	20373815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20373815C>T	uc002dhc.1	-	9	1550	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	443	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCGATCTTGGCAATGATAATT	0.483000														31			19		0	0	0.00121646	0	0
GSDMA	284110	broad.mit.edu	37	17	38130527	38130527	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38130527G>A	uc002htl.1	+	9	870	c.752_splice	c.e9-1	p.G251_splice	GSDMA_uc002htm.1_Splice_Site_p.G251_splice	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	251					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCCCCATAGGGGACGTACACG	0.557000														9			6		0	0	0.000442599	0	0
RPTN	126638	broad.mit.edu	37	1	152128155	152128156	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152128155_152128156GG>TT	uc001ezs.1	-	2	1484_1485	c.1419_1420CC>AA	c.(1417-1422)tcccac>tcAAac	p.H474N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	474	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						TGACTGTAGTGGGAACTCTGGC	0.510000														621			11		0	0	6.4e-05	0	0
CNTN6	27255	broad.mit.edu	37	3	1424755	1424755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:1424755G>A	uc003boz.3	+	17	2563	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	CNTN6_uc011asj.2_Missense_Mutation_p.E694K|CNTN6_uc003bpa.3_Missense_Mutation_p.E766K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	766	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)		CTACAGAAATGAAAGCATCAT	0.458000														40			9		0	0	0.000673444	0	0
ZNF267	10308	broad.mit.edu	37	16	31926270	31926270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31926270C>T	uc002ecs.4	+	3	909	c.700C>T	c.(700-702)Cat>Tat	p.H234Y		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	234					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CCCTAAAAATCATCAGGAAAA	0.308000														13			8		0	0	0.000157383	0	0
KIF21B	23046	broad.mit.edu	37	1	200957646	200957646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200957646C>T	uc001gvs.2	-	22	3642	c.3325G>A	c.(3325-3327)Gag>Aag	p.E1109K	KIF21B_uc009wzl.2_Missense_Mutation_p.E1109K|KIF21B_uc001gvr.2_Missense_Mutation_p.E1109K|KIF21B_uc010ppn.2_Missense_Mutation_p.E1109K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1109					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						TCTGAGATCTCCTCATCTGTG	0.597000														15			4		0	0	0.000602214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736325	12736325	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:12736325A>T	uc004cuz.2	+	15	3886	c.3380A>T	c.(3379-3381)gAa>gTa	p.E1127V	FRMPD4_uc011mij.2_Missense_Mutation_p.E1119V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1127					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGGAGGCCGAAGGGAAGGAA	0.527000														107			70		0	0	0.000781405	0	0
LAMA1	284217	broad.mit.edu	37	18	7009357	7009357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7009357C>T	uc002knm.3	-	26	3976	c.3882G>A	c.(3880-3882)tgG>tgA	p.W1294*	LAMA1_uc010wzj.2_Nonsense_Mutation_p.W770*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1294	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)	TAAAATATTTCCAAAAATTCT	0.343000														59			23		0	0	0.00188189	0	0
GBP1	2633	broad.mit.edu	37	1	89520397	89520398	+	Missense_Mutation	DNP	CT	TG	TG	rs150057659		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:89520397_89520398CT>TG	uc001dmx.2	-	9	1852_1853	c.1632_1633AG>CA	c.(1630-1635)aaagag>aaCAag	p.544_545KE>NK		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	544					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCTCTTGCTCTTTCAGCAACT	0.441000														474			65		0	0	6.4e-05	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36827	36827	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrGL000241.1:36827G>A	uc011mgv.2	-	0		c.49C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GGCTCAGGACGAGTATGTGAC	0.577000														5			3		0	0	6.4e-05	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600253	41600253	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41600253C>T	uc002opt.3	+	6	1086	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	359					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCACGAGATCCAAAGATTTG	0.552000														61			21		0	0	0.00229938	0	0
NLRP4	147945	broad.mit.edu	37	19	56382317	56382317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56382317C>T	uc002qmd.4	+	6	2901	c.2479C>T	c.(2479-2481)Ctc>Ttc	p.L827F	NLRP4_uc002qmf.3_Missense_Mutation_p.L752F|NLRP4_uc010etf.3_Missense_Mutation_p.L602F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	827							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)		ACTGAAAACTCTCTGCGAGGC	0.502000														67			27		0	0	0.00127121	0	0
CACNA1C	775	broad.mit.edu	37	12	2224609	2224609	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:2224609A>G	uc009zdu.1	+	1	582	c.269A>G	c.(268-270)aAg>aGg	p.K90R	CACNA1C_uc001qkc.2_Missense_Mutation_p.K90R|CACNA1C_uc001qjz.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkd.2_Missense_Mutation_p.K90R|CACNA1C_uc001qke.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkf.2_Missense_Mutation_p.K90R|CACNA1C_uc009zdw.1_Missense_Mutation_p.K90R|CACNA1C_uc001qkg.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkh.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkl.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkj.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkk.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkn.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkm.2_Missense_Mutation_p.K90R|CACNA1C_uc001qko.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkp.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkq.2_Missense_Mutation_p.K90R|CACNA1C_uc001qku.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkr.2_Missense_Mutation_p.K90R|CACNA1C_uc001qks.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkt.2_Missense_Mutation_p.K90R|CACNA1C_uc009zdv.1_Missense_Mutation_p.K90R|CACNA1C_uc001qkb.2_Missense_Mutation_p.K90R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	90					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)	GGGAAACCCAAGAAGCAGGGC	0.647000														32			17		0	0	0.000566183	0	0
IYD	389434	broad.mit.edu	37	6	150713566	150713566	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:150713566C>T	uc003qnx.2	+	2	596	c.456C>T	c.(454-456)atC>atT	p.I152I	IYD_uc003qnv.2_Silent_p.I152I|IYD_uc003qnu.2_Silent_p.I152I|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Silent_p.I70I	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	152					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.I152M(4)		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)		TTCGAAAGATCATTGAGGAGG	0.522000														32			28		0	0	0.000720815	0	0
SLIT3	6586	broad.mit.edu	37	5	168620526	168620526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168620526G>A	uc010jjg.3	-	3	790	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	SLIT3_uc003mab.3_Missense_Mutation_p.L124F|SLIT3_uc010jji.2_Missense_Mutation_p.L124F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	124					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)			AATTCTGGAAGGACTTGCAGC	0.473000														38			49		0	0	0.000781405	0	0
TBX5	6910	broad.mit.edu	37	12	114793644	114793644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:114793644G>A	uc001tvo.3	-	8	1745	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	TBX5_uc001tvp.3_Missense_Mutation_p.P417L|TBX5_uc001tvq.3_Missense_Mutation_p.P367L	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	417					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P417S(1)|p.Q416L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTGTCCATGGGCTGCACGGT	0.662000														33			19		0	0	0.00074312	0	0
FAIM2	23017	broad.mit.edu	37	12	50291358	50291358	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:50291358G>A	uc001rvj.2	-	3	509	c.324C>T	c.(322-324)acC>acT	p.T108T	FAIM2_uc001rvi.2_Silent_p.T62T	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	108					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TCAGCAGGATGGTGTAGACCT	0.592000														28			8		0	0	0.000442599	0	0
GLG1	2734	broad.mit.edu	37	16	74516938	74516938	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:74516938G>A	uc002fcx.3	-	9	1706	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	GLG1_uc002fcw.4_Silent_p.F541F|GLG1_uc002fcy.4_Silent_p.F552F|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	552						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCGGGAGATGAAATACTGCA	0.393000														79			37		0	0	0.00128727	0	0
OR5L1	219437	broad.mit.edu	37	11	55579002	55579002	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55579002C>T	uc001nhw.1	+	0	60	c.60C>T	c.(58-60)gtC>gtT	p.V20V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TATCAGATGTCCCTGAGTTGA	0.458000														54			53		0	0	0.000781405	0	0
ITGA4	3676	broad.mit.edu	37	2	182376453	182376453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:182376453G>A	uc002unu.3	+	16	2636	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	ITGA4_uc010frj.1_Missense_Mutation_p.E107K	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	625					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)	TTGTGCCCATGAAAATTGTTC	0.299000														42			25		0	0	0.00127121	0	0
KERA	11081	broad.mit.edu	37	12	91449601	91449601	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:91449601T>C	uc001tbl.3	-	1	1077	c.458A>G	c.(457-459)aAg>aGg	p.K153R		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	153					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TCTGGACACCTTATTTCTAGC	0.403000														6			9		0	0	0.000442599	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224845	20224845	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:20224845C>T	uc010cqy.1	+	0		c.359C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TAGACCAGCCCCAGCACGATG	0.652000														85			50		0	0	0.000781405	0	0
ZNF470	388566	broad.mit.edu	37	19	57089701	57089701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57089701C>T	uc002qnl.4	+	5	2580	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	635					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)		CATCGTAAATCCCTTACTCTG	0.423000														25			7		0	0	0.00198382	0	0
C8A	731	broad.mit.edu	37	1	57347252	57347252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57347252G>A	uc001cyo.2	+	4	731	c.599G>A	c.(598-600)gGa>gAa	p.G200E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	200	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTCTACTATGGAGATGATGAG	0.483000														31			5		0	0	0.00116845	0	0
F2RL2	2151	broad.mit.edu	37	5	75914462	75914462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:75914462C>T	uc003kem.3	-	1	255	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E2K	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	24					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GTATCATTTTCCATGCCTGTA	0.338000														55			80		0	0	0.000781405	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650079	51650079	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51650079T>C	uc002pvv.1	+	4	1165	c.1096T>C	c.(1096-1098)Ttc>Ctc	p.F366L	SIGLEC7_uc002pvw.1_Missense_Mutation_p.F273L|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	366					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGCCCTGGTCTTCCTCTCCTT	0.587000														63			50		0	0	0.000781405	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929143	42929143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:42929143G>A	uc002ihn.2	-	26	3019	c.2758C>T	c.(2758-2760)Ccc>Tcc	p.P920S	EFTUD2_uc010wje.1_Missense_Mutation_p.P885S|EFTUD2_uc010wjf.1_Missense_Mutation_p.P910S	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	920						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCTCCAAGGGGCGGATGACA	0.552000														20			9		0	0	0.000673444	0	0
CCDC13	152206	broad.mit.edu	37	3	42775086	42775086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:42775086C>T	uc003cly.4	-	10	1471	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	463										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCACCCACTCCTTTATTCCGA	0.592000														63			16		0	0	0.000958276	0	0
TTC31	64427	broad.mit.edu	37	2	74718670	74718670	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:74718670C>T	uc002slt.2	+	7	770	c.747C>T	c.(745-747)ccC>ccT	p.P249P	TTC31_uc002sls.2_Silent_p.P178P|TTC31_uc002slu.2_Silent_p.P105P	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	249							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGATTGGCCCCTCAGTGCCC	0.567000														141			135		0	0	0.000781405	0	0
C20orf152	140894	broad.mit.edu	37	20	34618321	34618321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:34618321G>A	uc002xer.1	+	11	1626	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*	C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	494										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					AGAACAGCTGGAATATCTTTC	0.537000														117			33		0	0	0.00170553	0	0
IQCA1	79781	broad.mit.edu	37	2	237300694	237300694	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:237300694C>T	uc002vwb.2	-	10	1393	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	IQCA1_uc002vvz.1_Silent_p.Q446Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.Q405Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	446	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTAAGTTCCTGTCTCATCA	0.408000														179			35		0	0	0.00111076	0	0
SALL3	27164	broad.mit.edu	37	18	76754347	76754347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76754347G>A	uc002lmt.3	+	1	2356	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	SALL3_uc010dra.3_Missense_Mutation_p.D393N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGGCCTACGACGACAAGAA	0.652000														24			6		0	0	0.000157383	0	0
BARX2	8538	broad.mit.edu	37	11	129306793	129306793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129306793G>A	uc001qfc.4	+	1	385	c.335G>A	c.(334-336)gGg>gAg	p.G112E		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	112										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGGCCCCAGGGGGCGAGGCC	0.687000														17			15		0	0	0.000422831	0	0
PDE1B	5153	broad.mit.edu	37	12	54966436	54966437	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54966436_54966437GG>TT	uc001sgd.2	+	6	1039_1040	c.646_647GG>TT	c.(646-648)ggg>TTg	p.G216L	PDE1B_uc010soz.2_Missense_Mutation_p.G79L|PDE1B_uc010spa.1_Missense_Mutation_p.G175L|PDE1B_uc001sge.3_Missense_Mutation_p.G196L|PDE1B_uc001sgf.3_Missense_Mutation_p.G79L|PDE1B_uc009znq.3_Missense_Mutation_p.G12L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	216	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						GACAGGCTATGGGAAGTACAAG	0.510000														435			11		0	0	6.4e-05	0	0
OR4M1	441670	broad.mit.edu	37	14	20249337	20249337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20249337C>T	uc010tku.2	+	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	286					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)		TTTACTTAATCCCATTATTTA	0.368000														35			10		0	0	0.000442599	0	0
CEP290	80184	broad.mit.edu	37	12	88482980	88482980	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:88482980G>A	uc001tar.3	-	30	4202	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	CEP290_uc001taq.3_Silent_p.F346F	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1286					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTGTTTTGGAGAACTTTTCCT	0.368000														23			9		0	0	0.000274275	0	0
ATP2A3	489	broad.mit.edu	37	17	3856645	3856645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:3856645G>A	uc002fwy.2	-	2	388	c.215C>T	c.(214-216)tCc>tTc	p.S72F	ATP2A3_uc002fwz.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxa.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxb.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxc.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxd.2_Missense_Mutation_p.S72F|ATP2A3_uc002fwx.2_Missense_Mutation_p.S72F	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	72					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACTTACAAAGGAGACAAGGGC	0.637000														31			18		0	0	0.00188189	0	0
C12orf63	374467	broad.mit.edu	37	12	97043759	97043759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:97043759C>T	uc021rcc.1	+	1	134	c.56C>T	c.(55-57)tCa>tTa	p.S19L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	19										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						GACTCTCAATCAGGTTCTAGT	0.338000														25			46		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181726091	181726091	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181726091G>A	uc009wxt.3	+	29	4353	c.4158G>A	c.(4156-4158)gaG>gaA	p.E1386E	CACNA1E_uc001gow.3_Silent_p.E1386E|CACNA1E_uc009wxs.3_Silent_p.E1367E|CACNA1E_uc001gox.1_Silent_p.E612E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1386					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						ATGTGACAGAGGAAGACCGAG	0.488000														124			45		0	0	0.000781405	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37677213G>A	uc002ofq.3	-	4	1478	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_uc002ofr.1_Missense_Mutation_p.S223L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000														52			40		0	0	0.00148497	0	0
DDB1	1642	broad.mit.edu	37	11	61070583	61070583	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:61070583G>A	uc001nrc.4	-	22	3103	c.2877C>T	c.(2875-2877)atC>atT	p.I959I	DDB1_uc010rle.1_Silent_p.I270I|DDB1_uc010rlf.1_Silent_p.I959I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	959	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CATCATCCAAGATTTCCACAG	0.448000								Nucleotide excision repair (NER)						43			34		0	0	0.00128727	0	0
TMEM184B	25829	broad.mit.edu	37	22	38642014	38642014	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38642014G>A	uc003avf.1	-	2	509	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TMEM184B_uc003avh.2_Silent_p.S29S|TMEM184B_uc003avg.2_Silent_p.S95S|TMEM184B_uc010gxl.2_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	95						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGCTGAGCCAGGAGTCAAAGG	0.607000														127			28		0	0	0.00178596	0	0
CNDP1	84735	broad.mit.edu	37	18	72228244	72228244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:72228244G>A	uc002llq.3	+	3	668	c.457G>A	c.(457-459)Gag>Aag	p.E153K	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	153					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.T152M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTGCTGACGGAGGTAGACGG	0.622000														64			19		0	0	0.00152264	0	0
TRIML1	339976	broad.mit.edu	37	4	189060977	189060977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:189060977G>A	uc003izm.1	+	0	380	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	89					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)		GCTGCAGAGCGAGGATGAGCA	0.662000														13			23		0	0	0.00229938	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706745	189706745	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:189706745C>T	uc011bsk.2	-	3	1294	c.906G>A	c.(904-906)gaG>gaA	p.E302E	LEPREL1_uc003fsg.3_Silent_p.E121E	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	302					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	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 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAAGAAAATTCTCGATGGGAG	0.498000														48			22		0	0	0.00229938	0	0
C12orf51	283450	broad.mit.edu	37	12	112622558	112622558	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:112622558G>A	uc021reb.1	-	60	10206	c.9810C>T	c.(9808-9810)atC>atT	p.I3270I		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						GGTGGGTGGGGATCCCGGAGA	0.687000														76			33		0	0	0.0024448	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994724	143994724	+	Silent	SNP	C	T	T	rs61757297	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143994724C>T	uc003yxk.1	-	5	1101	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	366					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.R366R(1)		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)	TGAGGGCCGCCCGCAGCAAGG	0.692000									Familial Hyperaldosteronism type I					29			32		0	0	0.000781405	0	0
OR2M2	391194	broad.mit.edu	37	1	248343329	248343329	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248343329C>T	uc010pzf.2	+	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTCATCCTCCTTGGAATCT	0.433000														128			32		0	0	0.000814825	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061549	13061549	+	Silent	SNP	C	T	T	rs142201347		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13061549C>T	uc001rba.3	+	1	1016	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	122						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGACCAAGCTCGTCCGGGGGA	0.557000														135			38		0	0	0.00128727	0	0
SP140	11262	broad.mit.edu	37	2	231103072	231103072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231103072G>A	uc002vql.3	+	2	497	c.382G>A	c.(382-384)Gag>Aag	p.E128K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Missense_Mutation_p.E128K|SP140_uc002vqk.2_Missense_Mutation_p.E128K|SP140_uc002vqn.3_Missense_Mutation_p.E128K|SP140_uc002vqm.3_Missense_Mutation_p.E128K|SP140_uc010fxl.3_Missense_Mutation_p.E128K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	128	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGATTTAAACGAGATTTACAG	0.408000														30			24		0	0	0.000720815	0	0
DDC	1644	broad.mit.edu	37	7	50607688	50607688	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:50607688G>A	uc003tpg.4	-	2	441	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.F80F|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Silent_p.F80F|DDC_uc022add.1_Silent_p.F80F|DDC_uc022adf.1_Silent_p.F80F|LOC100129427_uc022adg.1_Non-coding_Transcript	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	80	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Y79F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGGCAGTGGGGAAGTAGGCGA	0.642000														25			9		0	0	0.000442599	0	0
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5221178G>A	uc010qyz.2	-	0	753	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	251					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)		AGATGTGGGAGATGCAGGTCT	0.483000														18			14		0	0	0.00185496	0	0
STXBP6	29091	broad.mit.edu	37	14	25443984	25443984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:25443984G>A	uc001wpu.3	-	1	756	c.41C>T	c.(40-42)cCt>cTt	p.P14L	STXBP6_uc001wpv.3_Missense_Mutation_p.P14L|STXBP6_uc001wpw.3_Missense_Mutation_p.P14L|STXBP6_uc001wpx.1_Non-coding_Transcript	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA.	14					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TTCATCAAGAGGTGCAAAAAT	0.408000														21			5		0	0	0.000602214	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55002514	55002514	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:55002514G>A	uc003dhf.3	+	27	2535	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	CACNA2D3_uc003dhg.1_Silent_p.R735R|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.	829						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)		TTTTCCAAAGGAAGTTCTGGA	0.378000														17			5		0	0	0.00198382	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435377	104435377	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:104435377G>A	uc003kok.3	+	0		c.203G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		GGTCAGGAGTGATTCTGAAGC	0.413000														29			15		0	0	0.000422831	0	0
SKAP2	8935	broad.mit.edu	37	7	26883685	26883685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:26883685C>T	uc003syc.3	-	3	564	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.E76K	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	91					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCATATCGTTCTGAGGCTAAT	0.403000														205			36		0	0	0.00128727	0	0
DSP	1832	broad.mit.edu	37	6	7580358	7580358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:7580358C>T	uc003mxp.1	+	22	4214	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.S1312F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1312	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACAAGCAGTCCCTGGAGGAG	0.532000														42			97		0	0	0.000781405	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716832	13716832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:13716832G>A	uc009vnz.1	+	1	349	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	107										kidney(1)|lung(2)	3	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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATTTGCGGGATGTTGATGG	0.522000														119			22		0	0	0.000680045	0	0
LPHN3	23284	broad.mit.edu	37	4	62813848	62813848	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:62813848T>A	uc010ihh.3	+	13	2628	c.2455T>A	c.(2455-2457)Tca>Aca	p.S819T	LPHN3_uc003hcq.4_Missense_Mutation_p.S819T|LPHN3_uc003hct.3_Missense_Mutation_p.S212T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	806	GPS.				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						CCCTAACTGTTCATTTTGGAG	0.378000														19			6		0	0	0.00116845	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275642	130275642	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:130275642G>A	uc001qgg.4	-	8	2839	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	ADAMTS8_uc001qgf.3_Silent_p.I308I	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	827	Spacer.				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)		GCGGCTGGATGATGTTGGTGG	0.577000														62			50		0	0	0.000781405	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356958	104356958	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104356958G>A	uc004bbr.3	-	0	326	c.255C>T	c.(253-255)ttC>ttT	p.F85F	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	82	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCTTGACGCTGAACTGGGAGG	0.552000														85			58		0	0	0.000781405	0	0
STARD6	147323	broad.mit.edu	37	18	51851088	51851088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:51851088C>T	uc010xdt.2	-	5	637	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	213					lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATGAAATCCACGTCTTGAT	0.358000														82			19		0	0	0.00278032	0	0
C1orf94	84970	broad.mit.edu	37	1	34667830	34667830	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34667830C>T	uc001bxt.3	+	3	2254	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	C1orf94_uc001bxs.4_Silent_p.F282F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	282							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACCAGTGTTCACGAATCACT	0.547000														93			29		0	0	0.00058488	0	0
SLC6A4	6532	broad.mit.edu	37	17	28536188	28536188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:28536188C>T	uc002hey.4	-	11	2066	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLC6A4_uc010csg.3_Intron	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	508					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCGACTGCTTCGATCAGCGCG	0.597000														61			23		0	0	0.00278032	0	0
MIP	4284	broad.mit.edu	37	12	56847452	56847452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56847452C>T	uc001slh.3	-	1	486	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	150					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CGCCTCTCGTCGTATGTGGCA	0.602000														28			11		0	0	0.00136819	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955797	63955797	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:63955797G>T	uc001dbb.2	-	3	398	c.258C>A	c.(256-258)ccC>ccA	p.P86P	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Silent_p.P47P|ITGB3BP_uc009wak.1_Silent_p.P69P	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	47					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						CAGAACTTGTGGGAGAAGCAA	0.338000														60			5		0.000602214	0.00218364	0.000602214	1	0
CALR3	125972	broad.mit.edu	37	19	16590049	16590049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16590049C>T	uc002ned.2	-	8	1111	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	350	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TTCATTTCCTCCTTGGCCTGT	0.498000														132			32		0	0	0.0024448	0	0
C12orf35	55196	broad.mit.edu	37	12	32134418	32134418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:32134418C>T	uc001rks.3	+	3	943	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	177										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)			TACACGACTTCCTGTAGCTTA	0.423000														53			21		0	0	0.00047179	0	0
WNT10B	7480	broad.mit.edu	37	12	49360220	49360220	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49360220C>T	uc001rss.3	-	4	1272	c.828G>A	c.(826-828)agG>agA	p.R276R	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	276					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCAGCCGCTCCCTCAACGCCG	0.632000														25			37		0	0	0.00128727	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215689	50215689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50215689G>A	uc001zxu.3	-	16	1787	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	ATP8B4_uc010ber.3_Nonsense_Mutation_p.R422*|ATP8B4_uc010ufd.2_Nonsense_Mutation_p.R359*|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	549					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)		TCTGGGTTTCGAACTGAAAAG	0.378000														20			7		0	0	0.000274275	0	0
ABCC3	8714	broad.mit.edu	37	17	48745355	48745355	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48745355C>T	uc002isl.3	+	12	1847	c.1767C>T	c.(1765-1767)atC>atT	p.I589I		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	589	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCAGTTAATCAGCAACCTGA	0.522000														30			16		0	0	0.000308642	0	0
OTOGL	283310	broad.mit.edu	37	12	80746107	80746107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80746107G>A	uc001szd.3	+	43	5277	c.5271G>A	c.(5269-5271)tgG>tgA	p.W1757*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAAGATGTGGATCAATTATA	0.358000														23			6		0	0	0.00198382	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223341	140223341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140223341G>A	uc003lhr.1	+	0	2435	c.2435G>A	c.(2434-2436)tGg>tAg	p.W812*	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	NM_031856	NP_114062	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 2, mRNA.	0					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)			TTCTATTTGTGGAAATTGTAG	0.279000														46			13		0	0	0.00185496	0	0
RIN3	79890	broad.mit.edu	37	14	93154591	93154591	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:93154591C>T	uc001yap.3	+	9	3104	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	RIN3_uc010auk.3_Silent_p.F646F|RIN3_uc001yaq.3_Silent_p.F909F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	984					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCCCAACTTCCTGTGAGGCC	0.751000														5			11		0	0	0.000978159	0	0
CGB	1082	broad.mit.edu	37	19	49527216	49527216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49527216G>A	uc002plv.2	-	0	417	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_000737	NP_000728	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide (CGB), mRNA.	5					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	AGTCTTACCTGGAACATCTCC	0.607000														90			25		0	0	0.000781405	0	0
OR51I1	390063	broad.mit.edu	37	11	5462682	5462682	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5462682C>T	uc010qze.2	-	0	102	c.63G>A	c.(61-63)ggG>ggA	p.G21G	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.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G21A(1)		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)		CTGTTTGTATCCCAGGAATGC	0.522000														8			8		0	0	0.00136819	0	0
FBXW8	26259	broad.mit.edu	37	12	117465961	117465961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117465961C>T	uc001twg.1	+	10	1863	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	FBXW8_uc001twf.1_Missense_Mutation_p.P528L|FBXW8_uc021rel.1_5'Flank	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	594							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)		CTGGCCTTTCCCTATAACCAT	0.532000														16			27		0	0	0.00127121	0	0
TSC2	7249	broad.mit.edu	37	16	2129313	2129313	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2129313G>A	uc002con.3	+	27	3274	c.3168G>A	c.(3166-3168)agG>agA	p.R1056R	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.R1056R|TSC2_uc002coo.3_Silent_p.R1012R|TSC2_uc010uvv.2_Silent_p.R976R|TSC2_uc010uvw.2_Silent_p.R964R|TSC2_uc002cop.3_Silent_p.R812R	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1056					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)				CGGGTGGCAGGACCAAAACCT	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					23			43		0	0	0.000781405	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372144	34372144	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:34372144G>A	uc003zue.4	-	2	962	c.795C>T	c.(793-795)ccC>ccT	p.P265P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	266					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	p.R265C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GTGGCTTGTAGGGCGTGTCGT	0.667000														24			12		0	0	0.000308642	0	0
SPATA6	54558	broad.mit.edu	37	1	48764525	48764525	+	Missense_Mutation	SNP	C	T	T	rs147329302	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:48764525C>T	uc001crr.2	-	12	1523	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	SPATA6_uc001crs.2_Missense_Mutation_p.G427S|SPATA6_uc010omv.2_Missense_Mutation_p.G429S	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	443					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						CAGTATTCACCGTCATCCAAA	0.398000														89			24		0	0	0.00047179	0	0
CELF2	10659	broad.mit.edu	37	10	11047405	11047405	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:11047405T>A	uc010qbj.1	+	1	145	c.53_splice	c.e1+2	p.S18_splice	CELF2_uc010qbi.2_Splice_Site|CELF2_uc001iki.4_Splice_Site_p.S18_splice	NM_001025076	NP_001020247	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 1, mRNA.	18	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCTTTTAAGGTATGTTGTTGT	0.393000														67			48		0	0	0.000781405	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831286	131831286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:131831286G>A	uc003vra.4	-	27	5267	c.5038C>T	c.(5038-5040)Cga>Tga	p.R1680*	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1680						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						GCCAGGAGTCGGGTCAGGTAG	0.567000														238			84		0	0	0.000781405	0	0
BMP10	27302	broad.mit.edu	37	2	69093550	69093550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:69093550C>T	uc002sez.1	-	1	647	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	163					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						GGTAATTTTCCGGTCTACTCC	0.443000														43			8		0	0	0.000442599	0	0
FCRL2	79368	broad.mit.edu	37	1	157738411	157738411	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:157738411A>C	uc001fre.2	-	4	735	c.676T>G	c.(676-678)Tgc>Ggc	p.C226G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.C226G|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	226	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACTGAGCAGAGCAGGATC	0.522000														179			38		0	0	0.00170553	0	0
PRDM10	56980	broad.mit.edu	37	11	129814708	129814708	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129814708G>A	uc001qfm.3	-	5	952	c.720C>T	c.(718-720)ctC>ctT	p.L240L	PRDM10_uc001qfj.3_Silent_p.L154L|PRDM10_uc001qfk.3_Silent_p.L154L|PRDM10_uc001qfl.3_Silent_p.L154L|PRDM10_uc010sbx.2_Silent_p.L154L|PRDM10_uc001qfn.3_Silent_p.L240L|PRDM10_uc009zct.1_Silent_p.L272L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	240	SET.				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)		AGCCCCTGACGAGAGGCCCCT	0.562000														40			23		0	0	0.00047179	0	0
ACSM5	54988	broad.mit.edu	37	16	20442382	20442382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20442382C>T	uc002dhe.3	+	8	1340	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	398					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						GCGTCCCCACCCTACGATGTG	0.567000														98			42		0	0	0.00285205	0	0
EPHB1	2047	broad.mit.edu	37	3	134851795	134851795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:134851795C>T	uc003eqt.3	+	4	1576	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	401	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T400I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCCACACCCCCTACACCTT	0.607000														20			12		0	0	0.000978159	0	0
HMGCR	3156	broad.mit.edu	37	5	74645866	74645867	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:74645866_74645867GG>TT	uc011cst.2	+	7	869	c.617_splice	c.e7-1	p.G206_splice	HMGCR_uc003kdp.3_Splice_Site_p.G186_splice|HMGCR_uc003kdq.3_Splice_Site_p.G186_splice|HMGCR_uc010izn.1_Splice_Site_p.G26_splice	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	186					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTCTAACCAGGGGTACGTCAG	0.391000														412			10		0	0	6.4e-05	0	0
PJA2	9867	broad.mit.edu	37	5	108673046	108673046	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:108673046G>A	uc003kos.4	-	9	2233	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	JA429135_uc021ycd.1_5'Flank	NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	671	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GGCACACAGGGCATGTTCCCG	0.448000														36			9		0	0	0.000274275	0	0
ASTL	431705	broad.mit.edu	37	2	96789615	96789615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:96789615G>A	uc010yui.2	-	8	1270	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	424					proteolysis		metalloendopeptidase activity|zinc ion binding	p.N423H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCTTGAAATGATTTCTAGGT	0.577000														51			27		0	0	0.00178596	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933883	54933883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:54933883C>T	uc003dhf.3	+	26	2485	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	CACNA2D3_uc003dhg.1_Missense_Mutation_p.P719S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	813						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)		ACGGAAATCTCCTGTGGTGGC	0.453000														9			5		0	0	0.00116845	0	0
FAM161A	84140	broad.mit.edu	37	2	62067001	62067001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:62067001G>A	uc002sbm.4	-	2	1240	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	FAM161A_uc002sbn.4_Nonsense_Mutation_p.R190*|FAM161A_uc010ypo.2_Nonsense_Mutation_p.R380*|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Nonsense_Mutation_p.R271*	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	380					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAAGGTTTCGATAGAGCTCT	0.433000														48			44		0	0	0.00285205	0	0
PTPRT	11122	broad.mit.edu	37	20	40709567	40709567	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:40709567C>T	uc002xkg.3	-	30	4462	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	PTPRT_uc010ggj.3_Silent_p.Q1445Q|PTPRT_uc010ggi.3_Silent_p.Q629Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1426	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			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)				CAAATTTATACTGTTCCTgag	0.483000														57			19		0	0	0.000958276	0	0
C1orf168	199920	broad.mit.edu	37	1	57257903	57257903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57257903G>A	uc001cym.4	-	1	989	c.583C>T	c.(583-585)Cct>Tct	p.P195S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P195S	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	195										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTGGGAAGGAAGAGTCTGG	0.468000														82			23		0	0	0.00047179	0	0
DSC1	1823	broad.mit.edu	37	18	28720073	28720073	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28720073G>A	uc002kwn.3	-	9	1714	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	DSC1_uc002kwm.3_Silent_p.F484F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	484	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGCCAGCTGGGAAGCCATCTT	0.443000														80			12		0	0	0.00185496	0	0
TTC18	118491	broad.mit.edu	37	10	75037095	75037095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:75037095G>A	uc009xrc.3	-	21	2754	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L	TTC18_uc001jty.3_Missense_Mutation_p.S878L|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.S259L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	878							binding	p.S877*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGAAGAGCTGATGAATCTTG	0.388000														36			25		0	0	0.000586117	0	0
DHRS7	51635	broad.mit.edu	37	14	60620752	60620752	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:60620752A>G	uc001xes.3	-	2	502	c.318T>C	c.(316-318)ctT>ctC	p.L106L	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Silent_p.L56L	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	106							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GGGGCAAAACAAGTATATCTT	0.398000														26			35		0	0	0.00195071	0	0
IL18R1	8809	broad.mit.edu	37	2	102984507	102984507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:102984507G>A	uc002tbw.4	+	2	431	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IL18R1_uc010ywb.1_Missense_Mutation_p.G94E|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.G94E|IL18R1_uc010ywc.2_Missense_Mutation_p.G94E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	94	Ig-like C2-type 1.				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						AATGACACAGGATCTTACTTT	0.408000														124			33		0	0	0.000953801	0	0
ZNF92	168374	broad.mit.edu	37	7	64864337	64864337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:64864337C>T	uc003ttz.3	+	3	1453	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	ZNF92_uc003tua.3_Missense_Mutation_p.S368F|ZNF92_uc010kzu.3_Missense_Mutation_p.S405F|ZNF92_uc003tub.3_Missense_Mutation_p.S361F|ZNF92_uc022afd.1_Intron	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTTAGCTGGTCCTCAGCTTTT	0.363000														16			13		0	0	0.00185496	0	0
RIF1	55183	broad.mit.edu	37	2	152321761	152321761	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:152321761C>T	uc002txm.3	+	29	5888	c.5727C>T	c.(5725-5727)tcC>tcT	p.S1909S	RIF1_uc002txn.3_Silent_p.S1909S|RIF1_uc002txl.3_Silent_p.S1909S|RIF1_uc002txo.3_Silent_p.S1909S|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.	1909					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)		TAACAGAATCCAATCTAGAGA	0.363000														101			31		0	0	0.00283554	0	0
MYH8	4626	broad.mit.edu	37	17	10312654	10312654	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10312654C>T	uc002gmm.2	-	15	1934	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	613	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						TTGCAGACTTCTGGTACAGCC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					7			43		0	0	0.00285205	0	0
COL7A1	1294	broad.mit.edu	37	3	48616938	48616938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:48616938C>T	uc003ctz.2	-	58	5247	c.5246G>A	c.(5245-5247)gGg>gAg	p.G1749E	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1749	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)		TCCCCGAAACCCTTCAATGCC	0.607000														38			13		0	0	0.00185496	0	0
ATP7B	540	broad.mit.edu	37	13	52520510	52520510	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52520510G>A	uc001vfw.2	-	12	3127	c.2970C>T	c.(2968-2970)gcC>gcT	p.A990A	ATP7B_uc001vfy.2_Silent_p.A879A|ATP7B_uc010adv.2_Silent_p.A560A|ATP7B_uc001vfx.2_Silent_p.A783A|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.A942A|ATP7B_uc010tgv.1_Silent_p.A912A|ATP7B_uc001vfv.2_Silent_p.A262A|ATP7B_uc010tgs.1_Silent_p.A262A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	990					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)		CCGTGGGCGTGGCCAGCCCCA	0.637000									Wilson disease					0			23		0	0	0.00278032	0	0
ABCG1	9619	broad.mit.edu	37	21	43702436	43702436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:43702436C>T	uc011aev.2	+	5	748	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ABCG1_uc002zam.3_Missense_Mutation_p.T192I|ABCG1_uc002zan.3_Missense_Mutation_p.T216I|ABCG1_uc002zao.3_Missense_Mutation_p.T211I|ABCG1_uc002zap.3_Missense_Mutation_p.T214I|ABCG1_uc002zaq.3_Missense_Mutation_p.T214I|ABCG1_uc002zar.3_Missense_Mutation_p.T225I	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	214	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R224H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AACACGCGGACCGGGAGCCTG	0.612000														3			42		0	0	0.000680045	0	0
CAMK1	8536	broad.mit.edu	37	3	9804897	9804897	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:9804897C>T	uc003bst.3	-	4	401	c.216_splice	c.e4-1	p.K72_splice	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	72	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGTGCTTGATCCTGAAAGGAG	0.562000														93			27		0	0	0.00283554	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221000	140221000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140221000C>T	uc003lhs.2	+	0	94	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	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_uc003lhr.1_Missense_Mutation_p.H32Y	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	45					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)			CGGCCAGCTCCACTACTCCGT	0.642000														43			18		0	0	0.000566183	0	0
TSC2	7249	broad.mit.edu	37	16	2138580	2138580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2138580C>T	uc002con.3	+	41	5499	c.5393C>T	c.(5392-5394)tCc>tTc	p.S1798F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.S1775F|TSC2_uc002coo.3_Missense_Mutation_p.S1731F|TSC2_uc010uvv.2_Missense_Mutation_p.S1695F|TSC2_uc010uvw.2_Missense_Mutation_p.S1683F|TSC2_uc002cop.3_Missense_Mutation_p.S1554F|TSC2_uc002coq.3_Missense_Mutation_p.S573F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1798					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)				CGCCTCATCTCCTCGGTGGAG	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					15			11		0	0	0.000978159	0	0
EIF2C1	26523	broad.mit.edu	37	1	36359751	36359751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36359751C>T	uc001bzl.3	+	5	976	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	EIF2C1_uc001bzk.3_Missense_Mutation_p.R180C|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	255	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGCGCGTTCGCTTCACCAA	0.547000														32			29		0	0	0.000878237	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316796	72316796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:72316796C>T	uc001swu.3	+	17	1963	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	TBC1D15_uc001sww.3_Missense_Mutation_p.L384F|TBC1D15_uc010stt.2_Missense_Mutation_p.L621F|TBC1D15_uc001swv.3_Missense_Mutation_p.L613F	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	630							Rab GTPase activator activity|protein binding	p.G629G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATCCTTGGGCTTCAAGGCAG	0.398000														47			22		0	0	0.00229938	0	0
PRSS1	5644	broad.mit.edu	37	7	142459713	142459713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142459713C>T	uc003wak.2	+	2	306	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.P37S	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	97	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CATCCGCCACCCCCAATACGA	0.542000														53			112		0	0	0.000781405	0	0
WDR96	80217	broad.mit.edu	37	10	105947241	105947241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105947241G>A	uc001kxw.3	-	13	1813	c.1697C>T	c.(1696-1698)aCc>aTc	p.T566I	WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Missense_Mutation_p.T567I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	566										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						ATCAGCAAAGGTTGTGGAAAC	0.328000														27			16		0	0	0.00074312	0	0
NBAS	51594	broad.mit.edu	37	2	15534408	15534408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:15534408G>A	uc002rcc.1	-	27	3226	c.3200C>T	c.(3199-3201)tCt>tTt	p.S1067F	NBAS_uc010exl.1_Missense_Mutation_p.S139F|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1067										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAGCTAGATTGAGTGTT	0.353000														26			20		0	0	0.00121646	0	0
FBXO33	254170	broad.mit.edu	37	14	39868916	39868916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:39868916G>A	uc001wvk.3	-	3	1810	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	491										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GCTTTCTTCGGTGACTTCAAG	0.483000														18			9		0	0	0.000442599	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967326	142967326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:142967326G>A	uc004fca.3	+	0	154	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	42							acid-amino acid ligase activity	p.E42K(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCTGGGGAATCAAAGGA	0.473000														37			43		0	0	0.00285205	0	0
RPN2	6185	broad.mit.edu	37	20	35827600	35827600	+	Missense_Mutation	SNP	C	T	T	rs147803642		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:35827600C>T	uc002xgp.3	+	3	755	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.3_Missense_Mutation_p.R119C|RPN2_uc021wdb.1_5'UTR	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	151					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTACTGCTCGTCTCAGCAA	0.522000														40			12		0	0	0.00185496	0	0
FAM135B	51059	broad.mit.edu	37	8	139164862	139164862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139164862C>T	uc003yuy.3	-	12	2027	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	FAM135B_uc003yux.3_Missense_Mutation_p.G520E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G181E|FAM135B_uc003yvb.3_Missense_Mutation_p.G181E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	619										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)			TATTCCCTTTCCTAGAGTACT	0.478000										HNSCC(54;0.14)				93			29		0	0	0.001512	0	0
CD300C	10871	broad.mit.edu	37	17	72540920	72540920	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72540920C>T	uc002jky.1	-	1	589	c.228G>A	c.(226-228)ggG>ggA	p.G76G		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	76	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CATTCCTTTTCCCTGCTGACC	0.532000														64			23		0	0	0.00229938	0	0
PPARD	5467	broad.mit.edu	37	6	35392531	35392531	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:35392531C>T	uc003okn.3	+	7	1458	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PPARD_uc003okl.3_Silent_p.F351F|PPARD_uc011dtb.2_Silent_p.F312F|PPARD_uc011dtc.2_Silent_p.F253F|PPARD_uc003okm.3_Silent_p.F351F	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	351	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGGCCCTATTCATTGCGGCCA	0.567000														12			17		0	0	0.00152264	0	0
FLRT1	23769	broad.mit.edu	37	11	63885213	63885213	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:63885213T>C	uc021qks.1	+	0	1474	c.1474T>C	c.(1474-1476)Tac>Cac	p.Y492H	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.Y492H	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	464	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CAAGACAGAGTACCTGCTGAC	0.622000														11			11		0	0	0.000978159	0	0
TSPAN19	144448	broad.mit.edu	37	12	85421700	85421700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:85421700C>T	uc009zsj.3	-	3	342	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	Homo sapiens tetraspanin 19 (TSPAN19), mRNA.	81						integral to membrane				ovary(1)	1						CATCTGATTTCGTTGTGAATT	0.294000														4			4		0	0	0.00024832	0	0
DNAH1	25981	broad.mit.edu	37	3	52403981	52403981	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:52403981C>T	uc011bef.2	+	37	6345	c.6084C>T	c.(6082-6084)ccC>ccT	p.P2028P		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2028	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCTGCCTCCCTTGCTGAAGC	0.607000														103			35		0	0	0.00111076	0	0
SV2A	9900	broad.mit.edu	37	1	149883442	149883442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149883442G>A	uc001etg.3	-	2	1204	c.713C>T	c.(712-714)tCg>tTg	p.S238L	SV2A_uc001eth.2_Missense_Mutation_p.S238L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	238					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)	GACTGAGAGCGAGATGAGCAG	0.582000														55			9		0	0	0.000274275	0	0
FRMD7	90167	broad.mit.edu	37	X	131212235	131212235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131212235C>T	uc004ewn.3	-	11	1988	c.1810G>A	c.(1810-1812)Ggg>Agg	p.G604R	FRMD7_uc022cdy.1_Missense_Mutation_p.G484R|FRMD7_uc011muy.2_Missense_Mutation_p.G589R	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	604					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AATTCTGACCCAAAAGGAAAA	0.423000														23			18		0	0	0.000958276	0	0
LONRF2	164832	broad.mit.edu	37	2	100915380	100915380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:100915380C>T	uc002tal.4	-	6	2034	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	465					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AAATGTGTGTCCACAGGGCGT	0.443000														156			119		0	0	0.000781405	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316957	72316957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:72316957C>T	uc010iic.3	+	10	1378	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	SLC4A4_uc003hfy.3_Missense_Mutation_p.H421Y|SLC4A4_uc010iib.3_Missense_Mutation_p.H421Y|SLC4A4_uc003hfz.3_Missense_Mutation_p.H421Y|SLC4A4_uc003hgc.4_Missense_Mutation_p.H377Y|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.H299Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.H377Y	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	421						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGATACGCCCCATGATGGAGG	0.438000														50			16		0	0	0.00074312	0	0
HCLS1	3059	broad.mit.edu	37	3	121351017	121351017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121351017G>A	uc003eeh.4	-	12	1380	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	HCLS1_uc011bjj.2_Missense_Mutation_p.P382S	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	419					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gccccagccGGGCAGCCTGAT	0.527000														28			12		0	0	0.00136819	0	0
VOPP1	81552	broad.mit.edu	37	7	55560099	55560099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:55560099C>T	uc003tqs.3	-	3	387	c.204G>A	c.(202-204)atG>atA	p.M68I	VOPP1_uc003tqq.3_Missense_Mutation_p.M59I|VOPP1_uc010kzh.3_Missense_Mutation_p.M65I|VOPP1_uc010kzi.3_Missense_Mutation_p.M51I|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						GCACGCCCATCATCAGAAGGA	0.617000														19			4		0	0	0.000602214	0	0
KCNF1	3754	broad.mit.edu	37	2	11053071	11053071	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:11053071G>A	uc002rax.3	+	0	1009	c.519G>A	c.(517-519)gaG>gaA	p.E173E		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	173						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGTTCCTGGAGAAGCCCGAGT	0.692000														37			7		0	0	0.000157383	0	0
CCR1	1230	broad.mit.edu	37	3	46245447	46245447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46245447C>T	uc003cph.1	-	1	429	c.358G>A	c.(358-360)Gag>Aag	p.E120K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E120K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	120					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)		AAAAAGATCTCGCTGTACAAG	0.502000														77			24		0	0	0.000720815	0	0
TSNARE1	203062	broad.mit.edu	37	8	143381912	143381912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143381912G>A	uc003ywj.3	-	8	1267	c.1228C>T	c.(1228-1230)Ccg>Tcg	p.P410S	TSNARE1_uc011lju.2_Missense_Mutation_p.P408S|TSNARE1_uc003ywk.3_Missense_Mutation_p.P409S|TSNARE1_uc003ywl.4_Missense_Mutation_p.P190S	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	409					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGATGTCCGGGAGCAGCGCC	0.632000														35			15		0	0	0.000566183	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407403	20407403	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:20407403C>T	uc002gxb.3	-	0		c.409G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CACCAGAAGCCCATCAccacc	0.627000														11			15		0	0	0.000958276	0	0
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:100368606C>T	uc003duc.3	+	10	1602	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	GPR128_uc011bhc.2_Missense_Mutation_p.S146F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348000														24			35		0	0	0.00195071	0	0
GABRA3	2556	broad.mit.edu	37	X	151424268	151424268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151424268G>A	uc010ntk.1	-	4	773	c.533C>T	c.(532-534)aCc>aTc	p.T178I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	178					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGAGGAGGGTTCCGTTGTC	0.478000														36			19		0	0	0.00152264	0	0
RGR	5995	broad.mit.edu	37	10	86014182	86014182	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:86014182A>C	uc001kdd.1	+	4	663	c.625A>C	c.(625-627)Aag>Cag	p.K209Q	RGR_uc001kdc.1_Missense_Mutation_p.K205Q|RGR_uc001kde.1_Missense_Mutation_p.K205Q	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	205					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GAAACTGGGGAAGAGTGGCCA	0.522000														21			28		0	0	0.00127121	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696616	50696616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:50696616G>A	uc003paf.3	+	3	1158	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	216							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTCTGTCCCTGGCCGTTTGTC	0.468000														13			23		0	0	0.000586117	0	0
KIAA2026	158358	broad.mit.edu	37	9	5924691	5924691	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:5924691G>A	uc003zjq.4	-	6	2869	c.2653C>T	c.(2653-2655)Ctg>Ttg	p.L885L	KIAA2026_uc010mht.3_Silent_p.L60L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	885										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGATATCCAGAGGTTCTGTT	0.368000														7			34		0	0	0.000814825	0	0
NLRC5	84166	broad.mit.edu	37	16	57059746	57059746	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:57059746G>A	uc021tiu.1	+	4	1018	c.891G>A	c.(889-891)aaG>aaA	p.K297K	NLRC5_uc021tit.1_Silent_p.K297K|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.K102K|NLRC5_uc021tiw.1_Silent_p.K102K|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	297	NACHT.				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)				ACCTGGAGAAGAACGCTGACC	0.552000														67			27		0	0	0.00178596	0	0
ABCA4	24	broad.mit.edu	37	1	94578619	94578619	+	Missense_Mutation	SNP	G	A	A	rs150452677		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:94578619G>A	uc001dqh.3	-	1	174	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ABCA4_uc010otn.1_Missense_Mutation_p.R24C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	24			R -> H (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R24H(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)		ACCACAAAGCGAATCTGGAAA	0.428000														72			77		0	0	0.000781405	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687382	123687382	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:123687382G>A	uc001uel.3	-	5	1222	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	372					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGAATGTCTGATTTTTCCAA	0.398000														88			49		0	0	0.000781405	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469116	25469116	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:25469116A>G	uc002rgc.3	-	10	1599	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	DNMT3A_uc002rgd.3_Missense_Mutation_p.Y448H|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.Y259H	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	448					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGTGCGTAGGCAGCTGCC	0.552000			"""Mis, F, N, S"""		AML									141			85		0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117657984	117657984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117657984C>T	uc001twn.2	-	27	4879	c.4168G>A	c.(4168-4170)Gac>Aac	p.D1390N	NOS1_uc021ren.1_Missense_Mutation_p.D1020N|NOS1_uc021reo.1_Missense_Mutation_p.D1020N|NOS1_uc001twm.2_Missense_Mutation_p.D1356N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1356					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)	ATGGTGACGTCCCCACAGACG	0.602000														116			46		0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76755226	76755226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76755226C>T	uc002lmt.3	+	1	3235	c.3235C>T	c.(3235-3237)Ccg>Tcg	p.P1079S	SALL3_uc010dra.3_Missense_Mutation_p.P614S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1079					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1079P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGGGTCCCCCGCTGCCCGC	0.711000														30			8		0	0	0.000157383	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180782	142180782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142180782G>A	uc011krz.2	-	1	126	c.77C>T	c.(76-78)aCc>aTc	p.T26I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.T26I|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GAATTTTGGGGTCTGAGTGAC	0.527000														121			19		0	0	0.000878237	0	0
SCAND3	114821	broad.mit.edu	37	6	28542620	28542620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28542620C>T	uc003nlo.3	-	2	2480	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	621					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGATATTTCCATCACATGA	0.423000														20			13		0	0	0.00244969	0	0
FOXP2	93986	broad.mit.edu	37	7	114304412	114304412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:114304412C>T	uc003vhb.3	+	15	2298	c.1924C>T	c.(1924-1926)Cac>Tac	p.H642Y	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.H667Y|FOXP2_uc003vha.3_Missense_Mutation_p.H550Y|FOXP2_uc011kmv.2_Missense_Mutation_p.H641Y|FOXP2_uc011kmu.2_Missense_Mutation_p.H659Y|FOXP2_uc010ljz.2_Missense_Mutation_p.H457Y	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	642					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCAGGCCGTCCACGAAGACCT	0.488000														9			33		0	0	0.0024448	0	0
COL4A4	1286	broad.mit.edu	37	2	227915743	227915743	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:227915743A>G	uc021vxr.1	-	31	3201	c.3100T>C	c.(3100-3102)Tca>Cca	p.S1034P	COL4A4_uc021vxs.1_Missense_Mutation_p.S1034P	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1034	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)		AGACCAGTTGAGCCTGGAGGG	0.552000														88			20		0	0	0.00152264	0	0
PTH1R	5745	broad.mit.edu	37	3	46944973	46944973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46944973C>T	uc003cqm.3	+	15	1812	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	PTH1R_uc021wxg.1_Missense_Mutation_p.H537Y	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	537						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						GCTGCCTGGCCATGCCAAGCC	0.677000														76			25		0	0	0.00047179	0	0
SMPD4	55627	broad.mit.edu	37	2	130912694	130912694	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:130912694G>A	uc002tqq.2	-	14	2694	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SMPD4_uc002tqo.2_5'UTR|SMPD4_uc002tqp.2_Silent_p.P254P|SMPD4_uc010yzy.2_Silent_p.P264P|SMPD4_uc010yzz.2_Silent_p.P179P|SMPD4_uc002tqs.2_Silent_p.P383P|SMPD4_uc002tqr.2_Silent_p.P486P|SMPD4_uc010zaa.2_Silent_p.P373P|SMPD4_uc010zab.2_Silent_p.P413P|SMPD4_uc002tqt.2_Silent_p.P364P|SMPD4_uc010zac.2_Silent_p.P256P|SMPD4_uc010zad.2_Silent_p.P151P	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	476					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity	p.Q514L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGCCAGGTTGGGCTGGGCAA	0.612000														52			8		0	0	0.000442599	0	0
abParts	0	broad.mit.edu	37	14	106691916	106691916	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106691916G>A	uc021ser.1	-	1156		c.25077C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.587000														58			21		0	0	0.00229938	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147679	100147679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:100147679C>T	uc003knk.3	-	4	1280	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	318					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)		TTTAAGTCATCATAATAATGA	0.353000														11			22		0	0	0.00152264	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738110	154738110	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:154738110C>T	uc022aqg.1	-	19	3202	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L	LOC100132707_uc011kvr.2_Non-coding_Transcript|LOC100132707_uc003wlo.3_Non-coding_Transcript|PAXIP1_uc022aqf.1_Silent_p.L1053L|PAXIP1_uc022aqh.1_Silent_p.L1019L|PAXIP1_uc022aqi.1_Silent_p.L1017L	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	1053	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCACTCCAGTCAGAACGAACT	0.428000														159			32		0	0	0.00148497	0	0
C12orf52	84934	broad.mit.edu	37	12	113629232	113629232	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113629232C>T	uc001tur.1	+	3	888	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	140	Interaction with RBPJ/RBPSUH.				Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TCCGTGCTCTCTTGTGGACGC	0.662000														12			5		0	0	0.000602214	0	0
MAP1A	4130	broad.mit.edu	37	15	43815729	43815729	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43815729G>A	uc001zrt.3	+	3	2525	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	686						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AACATATGCAGGAACCCTTGA	0.507000														18			11		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179417082	179417082	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179417082T>A	uc021vsy.1	-	283	83066	c.82841A>T	c.(82840-82842)aAa>aTa	p.K27614I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K21309I|TTN_uc021vta.1_Missense_Mutation_p.K21242I|TTN_uc021vtb.1_Missense_Mutation_p.K21117I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28541	Fibronectin type-III 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)			GTTTTCAGTTTTACTGAAGCG	0.378000														33			6		0	0	0.00116845	0	0
PRDM16	63976	broad.mit.edu	37	1	3328303	3328303	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3328303C>T	uc001akf.3	+	8	1624	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	PRDM16_uc001ake.3_Silent_p.F514F|PRDM16_uc009vlh.3_Silent_p.F215F|PRDM16_uc001akc.3_Silent_p.F514F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	514	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)		CCCCCGGCTTCCCGGGCATCT	0.682000			T	EVI1	"""MDS, AML"""									125			28		0	0	0.00058488	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619186	43619186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:43619186G>A	uc003bdt.2	-	10	1371	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	415					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGGCCCGGGGGGAGGTCTT	0.647000														223			32		0	0	0.000692331	0	0
CACNG2	10369	broad.mit.edu	37	22	36960716	36960716	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36960716G>A	uc003aps.2	-	3	723	c.654C>T	c.(652-654)ctC>ctT	p.L218L		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	218					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGAGGCCTGGAGGTAGTCCG	0.677000														421			44		0	0	0.000781405	0	0
AGAP1	116987	broad.mit.edu	37	2	236957795	236957795	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:236957795C>T	uc002vvs.3	+	15	2582	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	AGAP1_uc002vvt.3_Nonsense_Mutation_p.R609*	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	662	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTCCCGAGTCCGATCTCTGGA	0.577000														76			26		0	0	0.00178596	0	0
C6orf10	10665	broad.mit.edu	37	6	32260952	32260952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32260952C>T	uc021yvt.1	-	22	1671	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.D417N|C6orf10_uc011dpz.2_Missense_Mutation_p.D498N|C6orf10_uc021yvu.1_Missense_Mutation_p.D498N|C6orf10_uc021yvv.1_Missense_Mutation_p.D484N	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	500	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ttttctttatcattatttcct	0.358000														23			25		0	0	0.00278032	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6213229	6213229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6213229C>T	uc002kmz.4	-	11	1060	c.900G>A	c.(898-900)atG>atA	p.M300I	L3MBTL4_uc002kmy.4_Missense_Mutation_p.M300I|L3MBTL4_uc010dkt.3_Missense_Mutation_p.M300I	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	300					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)				CTTCAAGTTTCATATTTGGCA	0.318000														47			26		0	0	0.00209593	0	0
ADCY9	115	broad.mit.edu	37	16	4164539	4164539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:4164539G>A	uc002cvx.3	-	1	1444	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	302					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 plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCACCTGGGACATGACGAA	0.617000														19			47		0	0	0.000781405	0	0
PCSK5	5125	broad.mit.edu	37	9	78638698	78638698	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78638698C>T	uc004akc.2	+	3	994	c.456C>T	c.(454-456)atC>atT	p.I152I	PCSK5_uc004ajy.2_Silent_p.I152I|PCSK5_uc004ajz.3_Silent_p.I152I|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.	152	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACATGAATATCGAAGGAGCCT	0.448000														43			25		0	0	0.00047179	0	0
CCDC96	257236	broad.mit.edu	37	4	7043099	7043099	+	Missense_Mutation	SNP	G	A	A	rs34275081	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:7043099G>A	uc003gjv.2	-	0	1630	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	523										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCCAGGCGCCGGTGAAGCAGT	0.557000														52			22		0	0	0.00229938	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882234	6882234	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6882234C>T	uc002knc.3	+	10	4444	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	ARHGAP28_uc002kne.3_Silent_p.F304F|ARHGAP28_uc010wzi.2_Silent_p.F286F|ARHGAP28_uc002knf.3_Silent_p.F295F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	286					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAGCGTTTTTCAGAGAACTAC	0.393000														68			18		0	0	0.00152264	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244246	49244246	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49244246G>A	uc002pkj.3	-	9	1520	c.972C>T	c.(970-972)tcC>tcT	p.S324S	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	324					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAAACAGTGAGGATTTGATGA	0.493000														73			14		0	0	0.000422831	0	0
DYSF	8291	broad.mit.edu	37	2	71894640	71894640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71894640G>A	uc010fen.3	+	47	5593	c.5452G>A	c.(5452-5454)Gag>Aag	p.E1818K	DYSF_uc010fei.3_Missense_Mutation_p.E1796K|DYSF_uc010feh.3_Missense_Mutation_p.E1786K|DYSF_uc002sig.4_Missense_Mutation_p.E1765K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1810K|DYSF_uc010fee.3_Missense_Mutation_p.E1800K|DYSF_uc010fef.3_Missense_Mutation_p.E1817K|DYSF_uc002sie.3_Missense_Mutation_p.E1779K|DYSF_uc010feo.3_Missense_Mutation_p.E1811K|DYSF_uc010fej.3_Missense_Mutation_p.E1787K|DYSF_uc010fel.3_Missense_Mutation_p.E1766K|DYSF_uc010fem.3_Missense_Mutation_p.E1801K|DYSF_uc002sif.3_Missense_Mutation_p.E1780K|DYSF_uc010fek.3_Missense_Mutation_p.E1797K|DYSF_uc010yqy.2_Missense_Mutation_p.E660K|DYSF_uc010yqz.2_Missense_Mutation_p.E540K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1779						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCAGACATCGAGCAGGTAGG	0.632000														30			9		0	0	0.000274275	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604046	26604046	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:26604046C>T	uc002has.3	-	2	916	c.429G>A	c.(427-429)tgG>tgA	p.W143*						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		TCTCCAGCTTCCAGTTCTTGG	0.542000														44			69		0	0	0.000781405	0	0
KPRP	448834	broad.mit.edu	37	1	152732820	152732820	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152732820C>T	uc001fal.1	+	1	814	c.756C>T	c.(754-756)acC>acT	p.T252T	KPRP_uc021ozf.1_Silent_p.T252T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	252						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGGAGCACCAGCAGATGCC	0.607000														61			23		0	0	0.00047179	0	0
NGEF	25791	broad.mit.edu	37	2	233835021	233835021	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233835021T>A	uc002vts.2	-	2	534	c.286A>T	c.(286-288)Aaa>Taa	p.K96*		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	96	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)		TTTACAGATTTTCCATTGTCC	0.463000														66			28		0	0	0.00178596	0	0
DNAH7	56171	broad.mit.edu	37	2	196788418	196788418	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196788418C>T	uc002utj.4	-	22	3827	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1242	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						CATGGACATCCAGTACCACAA	0.408000														55			11		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256462	140256462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140256462C>T	uc003lic.2	+	0	1532	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P469S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	483	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)			GGAGAACAACCCGCCGGGCTG	0.662000														57			33		0	0	0.00283554	0	0
PLCB4	5332	broad.mit.edu	37	20	9438082	9438082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9438082G>A	uc021wam.1	+	29	2997	c.2982G>A	c.(2980-2982)atG>atA	p.M994I	PLCB4_uc010gbw.1_Missense_Mutation_p.M994I|PLCB4_uc010gbx.3_Missense_Mutation_p.M1006I|PLCB4_uc021wal.1_Missense_Mutation_p.M994I|PLCB4_uc002wnh.3_Missense_Mutation_p.M841I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	994					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						GTCTCGAAATGAAAAAAGAAA	0.368000														20			22		0	0	0.000586117	0	0
NUP210L	91181	broad.mit.edu	37	1	154101776	154101776	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154101776T>C	uc001fdw.3	-	7	1127	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y352C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	352						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCTACAACATATATGGTGCA	0.363000														173			30		0	0	0.00058488	0	0
OR6B1	135946	broad.mit.edu	37	7	143701136	143701136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143701136G>A	uc003wdt.1	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATTCTGGTGGGATTCCCTGGG	0.478000														37			15		0	0	0.000308642	0	0
WDR96	80217	broad.mit.edu	37	10	105938810	105938810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105938810C>T	uc001kxw.3	-	18	2553	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	WDR96_uc009xxq.3_Missense_Mutation_p.G121R|WDR96_uc001kxx.4_Missense_Mutation_p.G814R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	813										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						GATTTGATTCCTTGTTTTATC	0.303000														17			14		0	0	0.000308642	0	0
ARAP2	116984	broad.mit.edu	37	4	36069745	36069745	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:36069745G>A	uc003gsq.2	-	32	5237	c.4899C>T	c.(4897-4899)ttC>ttT	p.F1633F	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1633					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						CCAGGCAGTTGAAACTCCGAT	0.517000														51			24		0	0	0.00047179	0	0
abParts	0	broad.mit.edu	37	2	90260245	90260245	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:90260245C>T	uc010yts.2	+	40		c.5513C>T								Parts of antibodies, mostly variable regions.																		ATTATAGTTTCCCTCCCACAG	0.498000														73			19		0	0	0.00121646	0	0
RBM27	54439	broad.mit.edu	37	5	145631329	145631330	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:145631329_145631330GG>TT	uc003lnz.4	+	8	1501_1502	c.1335_1336GG>TT	c.(1333-1338)ttgggg>ttTTgg	p.445_446LG>FW	RBM27_uc003lny.2_Intron	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	445					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTTCAGTTGGGGACACCGCC	0.545000														147			6		0	0	6.4e-05	0	0
PBX1	5087	broad.mit.edu	37	1	164761828	164761828	+	Silent	SNP	G	A	A	rs147201088		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:164761828G>A	uc001gct.3	+	2	826	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PBX1_uc010pku.2_Silent_p.E121E|PBX1_uc001gcs.3_Silent_p.E121E|PBX1_uc010pkv.2_Silent_p.E38E|PBX1_uc010pkw.1_Silent_p.E11E	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	121					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGGGGCCTGAGAAGGGCGGAG	0.627000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									32			54		0	0	0.000781405	0	0
SALL1	6299	broad.mit.edu	37	16	51174598	51174598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51174598G>A	uc021tif.1	-	1	1566	c.1244C>T	c.(1243-1245)cCt>cTt	p.P415L	SALL1_uc021tid.1_Missense_Mutation_p.P415L|SALL1_uc021tie.1_Missense_Mutation_p.P512L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	512					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)			CTCAGGCACAGGATAGGGGTT	0.512000														60			30		0	0	0.000692331	0	0
PSD	5662	broad.mit.edu	37	10	104176661	104176661	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:104176661G>A	uc001kvg.1	-	1	662	c.135C>T	c.(133-135)tcC>tcT	p.S45S	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.S45S|PSD_uc001kvi.1_Silent_p.S45S|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	45	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCGTAGCAAGGAGCCTGTGC	0.692000														9			11		0	0	0.000958276	0	0
ARPP21	10777	broad.mit.edu	37	7	38305208	38305208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:38305208G>A	uc003tge.1	-	4	876	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	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						CCAGCCTTCTGGAGCTTTGTT	0.383000														319			91		0	0	0.000781405	0	0
TPCN1	53373	broad.mit.edu	37	12	113729446	113729446	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113729446C>T	uc001tux.3	+	24	2382	c.2208C>T	c.(2206-2208)agC>agT	p.S736S	TPCN1_uc001tuw.3_Silent_p.S664S|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	664						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCACTGGAGCCGCCTCTACT	0.597000														8			3		0	0	0.00024832	0	0
CAPN13	92291	broad.mit.edu	37	2	30964829	30964829	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30964829C>T	uc021vfn.1	-	14	1512	c.1480_splice	c.e14-1	p.G494_splice	CAPN13_uc002rnm.3_Splice_Site|CAPN13_uc021vfm.1_Splice_Site_p.G490_splice|CAPN13_uc002rno.3_Splice_Site_p.G48_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	494					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)					TGAAGGGCTTCCCTGGATCAA	0.502000														40			14		0	0	0.00244969	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778104	140778104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140778104C>T	uc003lkf.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S137F	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	137	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.413000														30			10		0	0	0.000308642	0	0
LIPH	200879	broad.mit.edu	37	3	185252690	185252691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:185252690_185252691CC>AA	uc003fpm.3	-	1	389_390	c.279_280GG>TT	c.(277-282)aagggt>aaTTgt	p.93_94KG>NC	LIPH_uc010hyh.3_Missense_Mutation_p.93_94KG>NC	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	93					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)			GAGAGCAAACCCTTTACTAAGT	0.431000														663			13		0	0	6.4e-05	0	0
SCGN	10590	broad.mit.edu	37	6	25689431	25689431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25689431C>T	uc003nfb.3	+	7	762	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	SCGN_uc010jpz.3_Nonsense_Mutation_p.Q78*	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	187						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCCTTCTCCAATTTAAAAT	0.368000														68			17		0	0	0.000958276	0	0
NAV1	89796	broad.mit.edu	37	1	201786325	201786325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201786325C>T	uc021phi.1	+	28	5797	c.5450C>T	c.(5449-5451)cCc>cTc	p.P1817L	NAV1_uc001gwu.3_Missense_Mutation_p.P1814L|NAV1_uc001gwx.3_Missense_Mutation_p.P1423L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1817					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						CTGCCCCCACCCACCGTGGGC	0.582000														57			11		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248820	140248820	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140248820C>T	uc003lia.2	+	0	990	c.132C>T	c.(130-132)ttC>ttT	p.F44F	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_uc011dae.2_Silent_p.F44F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L44Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.652000														70			40		0	0	0.00195071	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103228	21103228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21103228G>A	uc001bdy.1	-	2	312	c.212C>T	c.(211-213)tCa>tTa	p.S71L	HP1BP3_uc001bdv.1_Missense_Mutation_p.S33L|HP1BP3_uc001bdw.1_Missense_Mutation_p.S71L|HP1BP3_uc010odh.1_Missense_Mutation_p.S33L|HP1BP3_uc001bea.2_Missense_Mutation_p.S70L|HP1BP3_uc001beb.3_Missense_Mutation_p.S71L	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGATTCCTCTGAACTTATGTC	0.413000														122			31		0	0	0.00283554	0	0
GRWD1	83743	broad.mit.edu	37	19	48955988	48955988	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48955988C>T	uc002pjd.2	+	6	1280	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	349						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		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;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGCCACCTTCAAGCAGCACG	0.647000														37			32		0	0	0.00128727	0	0
RIF1	55183	broad.mit.edu	37	2	152300066	152300067	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:152300066_152300067TT>CA	uc002txm.3	+	17	1990_1991	c.1829_1830TT>CA	c.(1828-1830)ctt>cCA	p.L610P	RIF1_uc010fnv.2_Missense_Mutation_p.L574P|RIF1_uc002txn.3_Missense_Mutation_p.L610P|RIF1_uc002txl.3_Missense_Mutation_p.L610P|RIF1_uc002txo.3_Missense_Mutation_p.L610P	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	610					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)		TTGGAATCACTTGTAGGCTGTG	0.307000														110			75		0	0	6.4e-05	0	0
C1orf65	164127	broad.mit.edu	37	1	223568257	223568257	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:223568257G>A	uc001hoa.2	+	0	1543	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	480										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGAAGGAGGAAGAGC	0.592000														34			29		0	0	0.00178596	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175629	207175629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207175629C>T	uc002vbp.2	+	4	6627	c.6377C>T	c.(6376-6378)tCt>tTt	p.S2126F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2126							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						AGTGACTCTTCTCTGTTTCTG	0.413000														101			26		0	0	0.00106085	0	0
PADI4	23569	broad.mit.edu	37	1	17685896	17685896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:17685896C>T	uc001baj.2	+	14	1779	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	584					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)	GCTTTTTTCCCCAACATGGTG	0.607000														91			23		0	0	0.00229938	0	0
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:226349293G>A	uc001hpy.3	-	3	714	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	223	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453000														66			11		0	0	0.000978159	0	0
INTS5	80789	broad.mit.edu	37	11	62414849	62414849	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62414849G>A	uc001nud.3	-	1	2756	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	901					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGTGCCAGGGGGAGTGGG	0.632000														39			37		0	0	0.000814825	0	0
C3P1	388503	broad.mit.edu	37	19	10157457	10157457	+	RNA	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:10157457G>A	uc010dwx.2	+	8		c.1291G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGCCTGTGCGGACCTTGTTC	0.527000														69			13		0	0	0.00185496	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12924217	12924218	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12924217_12924218CC>TT	uc002mvg.1	+	7	897_898	c.837_838CC>TT	c.(835-840)gcccgt>gcTTgt	p.R280C		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	280					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGTCCCAAGCCCGTCCCCGTTC	0.579000														42			19		0	0	6.4e-05	0	0
IL1F10	84639	broad.mit.edu	37	2	113831960	113831960	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:113831960G>A	uc002tiu.3	+	2	162	c.87G>A	c.(85-87)gtG>gtA	p.V29V	IL1F10_uc002tiv.3_Silent_p.V29V|IL1F10_uc002tiw.3_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	29						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AGCTGCTGGTGGGAGATCCTG	0.522000														44			8		0	0	0.000442599	0	0
APOL5	80831	broad.mit.edu	37	22	36122920	36122921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36122920_36122921CC>TT	uc003aof.3	+	2	805_806	c.805_806CC>TT	c.(805-807)cct>TTt	p.P269F		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	269					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAGACACATCCCTTTCTGGACG	0.540000														354			98		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	2	89495564	89495564	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:89495564G>A	uc021vkt.1	-	30		c.3375_splice	c.e30+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TAGCACTGTGGGAGGATCTTG	0.527000														15			9		0	0	0.000978159	0	0
ESPNL	339768	broad.mit.edu	37	2	239025582	239025582	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:239025582C>T	uc002vxq.4	+	4	1004	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ESPNL_uc010fyw.3_Intron	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	298										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACCCCTCCCTGCGGGATG	0.652000														35			16		0	0	0.000422831	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99025842	99025842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:99025842G>A	uc001knb.3	-	1	143	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.L24F|ARHGAP19_uc009xvj.3_Missense_Mutation_p.L33F|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	33					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TGACCTCGAAGGGAAGAATCA	0.398000														28			18		0	0	0.00121646	0	0
IGSF3	3321	broad.mit.edu	37	1	117156446	117156446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:117156446G>A	uc001egq.1	-	3	1478	c.773C>T	c.(772-774)tCg>tTg	p.S258L	IGSF3_uc001egr.1_Missense_Mutation_p.S258L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	258	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATACCACGACCCATCCGG	0.602000														44			8		0	0	0.000442599	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833008	34833008	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:34833008C>T	uc002nvd.4	+	9	3028	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	723										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)					AGCAGCAGTCCCCAAAGCAGC	0.657000														91			25		0	0	0.00047179	0	0
DENND2C	163259	broad.mit.edu	37	1	115147646	115147646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115147646G>A	uc001efd.1	-	10	2266	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.H465Y	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	522	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		TTATAGCCATGATCATCCTGA	0.363000														72			7		0	0	0.00198382	0	0
MDC1	9656	broad.mit.edu	37	6	30673675	30673675	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:30673675G>A	uc003nrg.4	-	9	3725	c.3285C>T	c.(3283-3285)tcC>tcT	p.S1095S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.S702S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1095	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCAGCTCTGAGGACAAGGGAG	0.552000								Other conserved DNA damage response genes						157			73		0	0	0.000781405	0	0
BPTF	2186	broad.mit.edu	37	17	65914840	65914840	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:65914840C>T	uc002jgf.3	+	11	5375	c.5314C>T	c.(5314-5316)Cag>Tag	p.Q1772*	BPTF_uc002jge.3_Nonsense_Mutation_p.Q1898*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1898	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.Q1772H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTATAGACTTCAGACAGTAAA	0.423000														143			43		0	0	0.000781405	0	0
SORCS2	57537	broad.mit.edu	37	4	7684486	7684486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:7684486G>A	uc003gkb.4	+	9	1358	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	SORCS2_uc011bwi.2_Missense_Mutation_p.G281E	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	453						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						GGGGTGAAAGGAGTCTTCCTG	0.493000														10			7		0	0	0.00198382	0	0
LPO	4025	broad.mit.edu	37	17	56327781	56327781	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:56327781G>A	uc002ivt.3	+	6	895	c.579G>A	c.(577-579)cgG>cgA	p.R193R	LPO_uc010dco.2_Silent_p.R193R|LPO_uc010wnr.1_Silent_p.R110R|LPO_uc010wns.2_Silent_p.R134R|LPO_uc010dcp.3_Silent_p.R110R|LPO_uc010dcq.3_5'UTR|LPO_uc010dcr.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	193					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTAGGCCCGGGAGGTATCTA	0.473000											OREG0024609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			31		0	0	0.000953801	0	0
MFNG	4242	broad.mit.edu	37	22	37881962	37881962	+	Splice_Site	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37881962T>G	uc003ass.2	-	1	518	c.255_splice	c.e1+1	p.Q85_splice	MFNG_uc011anj.2_Missense_Mutation_p.Q85P|MFNG_uc011ani.2_Splice_Site|CARD10_uc003ast.1_Splice_Site	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	85				Q -> L (in Ref. 1; AAC51358).	pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ACTTGTCACCTGTTCCCTGGT	0.612000														65			9		0	0	0.00136819	0	0
CFTR	1080	broad.mit.edu	37	7	117282597	117282597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117282597G>A	uc003vjd.3	+	22	3955	c.3823G>A	c.(3823-3825)Gat>Aat	p.D1275N	CFTR_uc011knq.2_Missense_Mutation_p.D681N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1275	ABC transporter 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)	TGTGTCTTGGGATTCAATAAC	0.403000									Cystic Fibrosis					18			19		0	0	0.00121646	0	0
GRIK1	2897	broad.mit.edu	37	21	30927556	30927556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:30927556C>T	uc002yno.1	-	15	2888	c.2424G>A	c.(2422-2424)atG>atA	p.M808I	GRIK1_uc002ynn.3_Missense_Mutation_p.M793I|GRIK1_uc011acs.2_Missense_Mutation_p.M808I|GRIK1_uc011act.2_Missense_Mutation_p.M669I	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	808					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTCTTTCATCATATGCAGCT	0.458000														87			37		0	0	0.00128727	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776929	25776930	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25776929_25776930CC>TT	uc003nfe.3	+	8	1213_1214	c.1094_1095CC>TT	c.(1093-1095)acc>aTT	p.T365I	SLC17A4_uc011djx.2_Missense_Mutation_p.T135I|SLC17A4_uc003nff.1_Missense_Mutation_p.T126I|SLC17A4_uc003nfg.3_Missense_Mutation_p.T302I|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	365					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACTCATCACCATCAGGAAAC	0.485000														31			16		0	0	6.4e-05	0	0
PRDM13	59336	broad.mit.edu	37	6	100056687	100056687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:100056687G>A	uc003pqg.1	+	1	476	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	72	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I71L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGTTAATCCGGGCAGCCAGA	0.622000														13			9		0	0	0.000442599	0	0
PROM2	150696	broad.mit.edu	37	2	95954681	95954681	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:95954681C>T	uc002suk.3	+	23	2575	c.2442_splice	c.e23-1	p.S814_splice	PROM2_uc002suh.2_Splice_Site_p.S814_splice|PROM2_uc002sui.3_Splice_Site_p.S814_splice|PROM2_uc002suj.3_Splice_Site_p.S468_splice|PROM2_uc002sul.3_Splice_Site_p.S340_splice|PROM2_uc002sum.3_Splice_Site	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	814						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						GACACTGCAGCTCCACCAGCT	0.577000														89			24		0	0	0.000878237	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074223	34074223	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:34074223C>T	uc002hjv.2	-	4	925	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	299					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGTCCATCCTGTACCCTTA	0.587000														112			72		0	0	0.000781405	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574073	18574073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:18574073G>A	uc003zne.4	+	3	435	c.283G>A	c.(283-285)Gct>Act	p.A95T	ADAMTSL1_uc003znb.3_Missense_Mutation_p.A95T|ADAMTSL1_uc003znc.4_Missense_Mutation_p.A95T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	95						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)		GCAATGCTCAGCTCATAATGA	0.473000														7			35		0	0	0.00111076	0	0
SLC2A11	66035	broad.mit.edu	37	22	24227064	24227064	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24227064C>T	uc011ajc.1	+	10	2029	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	SLC2A11_uc002zym.4_3'UTR|SLC2A11_uc002zyn.4_3'UTR|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_3'UTR			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	0						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAGCCAAAGCCAGCTACTGTC	0.582000														8			17		0	0	0.000422831	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412520	110412520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110412520G>A	uc003yne.3	+	12	1332	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	410					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)			CTACATCAAGGGTGATGACCG	0.383000										HNSCC(38;0.096)				86			22		0	0	0.00278032	0	0
EPPK1	83481	broad.mit.edu	37	8	144940898	144940898	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:144940898T>C	uc003zaa.1	-	0	6537	c.6524A>G	c.(6523-6525)cAa>cGa	p.Q2175R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2175						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)			TCTAATTCCTTGGAACCACAG	0.517000														258			76		0	0	0.000781405	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050037	42050037	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:42050037G>A	uc001cgz.4	-	3	1645	c.432C>T	c.(430-432)ctC>ctT	p.L144L	HIVEP3_uc001cha.4_Silent_p.L144L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAAGGAAGGAGCTGGCTCT	0.612000														75			72		0	0	0.000781405	0	0
OR8B8	26493	broad.mit.edu	37	11	124310965	124310965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124310965G>A	uc010sal.2	-	0	17	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		CACGAAGGAGGAATTCTCAGC	0.502000														12			15		0	0	0.000308642	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96136862C>T	uc001yep.1	+	7		c.1661C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL									32			10		0	0	0.000442599	0	0
SENP7	57337	broad.mit.edu	37	3	101062652	101062652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:101062652G>A	uc003dut.3	-	13	2095	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	SENP7_uc003duu.3_Missense_Mutation_p.P597S|SENP7_uc003duv.3_Missense_Mutation_p.P629S|SENP7_uc003duw.3_Missense_Mutation_p.P596S|SENP7_uc003dux.3_Missense_Mutation_p.P498S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	662					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGAAACAAAGGAAATGCCTGA	0.358000														22			23		0	0	0.00229938	0	0
BACH2	60468	broad.mit.edu	37	6	90660443	90660443	+	Missense_Mutation	SNP	G	A	A	rs144153232		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:90660443G>A	uc011eab.2	-	6	2256	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	BACH2_uc003pnw.3_Missense_Mutation_p.P461L|BACH2_uc010kch.3_Missense_Mutation_p.P461L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	461						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTGGCACCGGCTCAGAGAG	0.617000														18			24		0	0	0.000878237	0	0
TRPC6	7225	broad.mit.edu	37	11	101347198	101347198	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:101347198C>T	uc001pgk.4	-	5	2003	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	TRPC6_uc009ywy.3_Nonsense_Mutation_p.W410*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.W471*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	526					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAGCATGTTCCACAACTCAA	0.413000														24			22		0	0	0.00152264	0	0
POPDC2	64091	broad.mit.edu	37	3	119367193	119367193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:119367193G>A	uc003ecx.1	-	2	1057	c.923C>T	c.(922-924)cCc>cTc	p.P308L	POPDC2_uc010hqw.1_Missense_Mutation_p.P308L|POPDC2_uc003ecy.1_Missense_Mutation_p.P126L	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	308						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGAACAAGGGGGTGTTTGCTG	0.607000														17			32		0	0	0.000814825	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935880	209935880	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:209935880A>G	uc001hho.3	+	3	786	c.366A>G	c.(364-366)gaA>gaG	p.E122E	TRAF3IP3_uc001hhm.2_Silent_p.E122E|TRAF3IP3_uc001hhn.3_Silent_p.E102E|TRAF3IP3_uc009xcr.3_Silent_p.E122E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	122						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCAGCTCTGAAGTCTTTCCAG	0.567000														74			14		0	0	0.00244969	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397560	75397560	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:75397560A>G	uc001jur.3	-	2	559	c.194T>C	c.(193-195)aTg>aCg	p.M65T		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	65					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTCCACCCTCATCTGCCGCAG	0.483000														64			55		0	0	0.000781405	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089628	102089628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:102089628C>T	uc001kqx.1	-	0	616	c.233G>A	c.(232-234)aGa>aAa	p.R78K	PKD2L1_uc009xwm.1_Missense_Mutation_p.E24K	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	78					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTGGTACCTCTGATGCCTTG	0.547000														29			19		0	0	0.00152264	0	0
CCDC159	126075	broad.mit.edu	37	19	11460799	11460799	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11460799C>T	uc010xlw.1	+	4	478	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CCDC159_uc010xlr.2_Silent_p.F50F|CCDC159_uc010xls.2_Silent_p.F50F|CCDC159_uc010xlt.2_Silent_p.F50F|CCDC159_uc010xlu.2_Silent_p.F49F|CCDC159_uc010xlv.2_Silent_p.F49F	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	165										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCCAGGCTTTCGAGTTCCTGA	0.562000														21			5		0	0	0.000602214	0	0
LRIG3	121227	broad.mit.edu	37	12	59271441	59271441	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:59271441G>A	uc001sqr.3	-	14	2523	c.2277C>T	c.(2275-2277)gtC>gtT	p.V759V	LRIG3_uc009zqh.3_Silent_p.V699V|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	759	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGCATCACTGACATCTGAGT	0.498000			T	ROS1	NSCLC									46			81		0	0	0.000781405	0	0
DENND3	22898	broad.mit.edu	37	8	142161922	142161922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:142161922G>A	uc003yvy.3	+	6	1098	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	DENND3_uc010mep.3_Missense_Mutation_p.E287K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	274	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGACCACTTCGAAGAAGTCAG	0.552000														86			33		0	0	0.00111076	0	0
SCAND3	114821	broad.mit.edu	37	6	28540556	28540556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28540556C>T	uc003nlo.3	-	3	3728	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1037					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agagaataatcttgaattcaa	0.303000														18			11		0	0	0.000978159	0	0
RYR3	6263	broad.mit.edu	37	15	33855043	33855043	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:33855043C>T	uc001zhi.3	+	10	1048	c.978C>T	c.(976-978)ctC>ctT	p.L326L	RYR3_uc010bar.3_Silent_p.L326L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	326	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L326L(2)		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)		ATTAGGAACTCAAGGAGAAAT	0.388000														9			8		0	0	0.000157383	0	0
EFS	10278	broad.mit.edu	37	14	23826617	23826617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23826617C>T	uc001wjo.3	-	5	2112	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	EFS_uc001wjp.3_Missense_Mutation_p.A409T|EFS_uc010tnm.2_Missense_Mutation_p.A333T	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	502					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTGACCTGTGCTCTCAGAGGG	0.657000														24			7		0	0	0.00198382	0	0
GABRA3	2556	broad.mit.edu	37	X	151532952	151532952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151532952C>T	uc010ntk.1	-	1	331	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	31					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGTCTTGATTCCCCTTGACCA	0.448000														5			75		0	0	0.000781405	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10922464	10922464	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:10922464G>C	uc002ras.3	+	12	1266	c.1157G>C	c.(1156-1158)cGa>cCa	p.R386P	ATP6V1C2_uc002rat.3_Missense_Mutation_p.R340P	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	386					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTGTCTTCCGACATCTGGAT	0.443000														28			40		0	0	0.00128727	0	0
S100A3	6274	broad.mit.edu	37	1	153520175	153520175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:153520175G>A	uc001fca.1	-	2	372	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622000														73			37		0	0	0.00195071	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712807	43712807	+	Silent	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43712807A>T	uc001zrs.3	-	20	4510	c.4362T>A	c.(4360-4362)gcT>gcA	p.A1454A	TP53BP1_uc010udp.2_Silent_p.A1454A|TP53BP1_uc001zrq.4_Silent_p.A1459A|TP53BP1_uc001zrr.4_Silent_p.A1459A|TP53BP1_uc010udq.1_Silent_p.A1459A	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1454					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCAAAGCACCAGCACCCACAT	0.522000								Other conserved DNA damage response genes						55			11		0	0	0.000673444	0	0
MYOCD	93649	broad.mit.edu	37	17	12655993	12655993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:12655993C>T	uc002gno.2	+	9	1687	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	MYOCD_uc002gnn.2_Missense_Mutation_p.S463F|MYOCD_uc002gnp.1_Missense_Mutation_p.S367F|MYOCD_uc002gnq.2_Missense_Mutation_p.S182F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	463	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCCTCCTCTGACCTGTCA	0.622000														24			19		0	0	0.00121646	0	0
abParts	0	broad.mit.edu	37	14	106385436	106385436	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106385436G>A	uc021ser.1	-	3259		c.52453_splice	c.e3259-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron|KIAA0125_uc001yst.3_Intron					Parts of antibodies, mostly variable regions.																		GGGGCCTCCTGGATGGGGGCT	0.632000														28			8		0	0	0.000442599	0	0
DISP1	84976	broad.mit.edu	37	1	223163993	223163994	+	Missense_Mutation	DNP	CG	AT	AT	rs139326650		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:223163993_223163994CG>AT	uc001hnu.2	+	5	892_893	c.566_567CG>AT	c.(565-567)ccg>cAT	p.P189H		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	189					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)		GCCGACTGGCCGGTGGTGGTCT	0.495000														818			12		0	0	6.4e-05	0	0
HCFC1	3054	broad.mit.edu	37	X	153224144	153224144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153224144G>A	uc004fjp.3	-	9	2207	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	560					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAAGGGGGGATCTTCTG	0.657000														22			13		0	0	0.00136819	0	0
PROM1	8842	broad.mit.edu	37	4	16034954	16034954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:16034954G>A	uc003goo.2	-	3	694	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PROM1_uc003gor.2_Missense_Mutation_p.S161F|PROM1_uc003gos.2_Missense_Mutation_p.S152F|PROM1_uc003got.2_Missense_Mutation_p.S161F|PROM1_uc003gou.2_Missense_Mutation_p.S152F|PROM1_uc003gop.2_Missense_Mutation_p.S152F|PROM1_uc003goq.3_Missense_Mutation_p.S152F|PROM1_uc010iec.1_Missense_Mutation_p.S39F	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	161					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CACCAACAGGGAGATTGCAAA	0.383000														24			34		0	0	0.000692331	0	0
ZNF423	23090	broad.mit.edu	37	16	49671905	49671905	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:49671905G>A	uc002efs.3	-	4	1456	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	ZNF423_uc010vgn.2_Silent_p.S269S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	386					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)				GCTTCAAGGTGGAGTCCGGGG	0.637000														32			8		0	0	0.000274275	0	0
CACNG8	59283	broad.mit.edu	37	19	54483246	54483246	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54483246C>T	uc002qcs.2	+	2	600	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	CACNG8_uc021vbd.1_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	165					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCAGGGATCCTGTTCGTGGC	0.672000														21			9		0	0	0.000978159	0	0
PAK6	56924	broad.mit.edu	37	15	40558353	40558353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:40558353G>A	uc010bbl.3	+	4	955	c.515G>A	c.(514-516)gGg>gAg	p.G172E	PAK6_uc010bbm.3_Missense_Mutation_p.G172E|PAK6_uc001zky.4_Missense_Mutation_p.G172E|PAK6_uc010bbn.3_Missense_Mutation_p.G172E|PAK6_uc001zlb.3_Missense_Mutation_p.G172E	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	172	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCCCAATGGGCTGGCTGCA	0.692000														3			5		0	0	0.000602214	0	0
MASP2	10747	broad.mit.edu	37	1	11087255	11087255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11087255C>T	uc001aru.3	-	10	1780	c.1748G>A	c.(1747-1749)aGa>aAa	p.R583K		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	583	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CATTAGATTTCTAGCAAGAAA	0.418000														79			105		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181549846	181549846	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181549846C>T	uc009wxt.3	+	5	1080	c.885C>T	c.(883-885)atC>atT	p.I295I	CACNA1E_uc001gow.3_Silent_p.I295I|CACNA1E_uc009wxs.3_Silent_p.I295I|CACNA1E_uc009wxr.3_Silent_p.I202I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	295					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I295I(3)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGATAACATCCTTTTTGCTG	0.547000														72			20		0	0	0.000958276	0	0
CFH	3075	broad.mit.edu	37	1	196642210	196642210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196642210C>T	uc001gtj.4	+	1	401	c.161C>T	c.(160-162)cCt>cTt	p.P54L	CFH_uc001gti.4_Missense_Mutation_p.P54L|CFH_uc009wyw.3_Missense_Mutation_p.P54L|CFH_uc009wyx.3_Missense_Mutation_p.P54L	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	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						AAATGCCGCCCTGGATATAGA	0.403000														74			18		0	0	0.00074312	0	0
METTL11A	28989	broad.mit.edu	37	9	132397675	132397675	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:132397675C>T	uc004byd.1	+	3	798	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	202					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						CCTCAGCCTCCTGGCCGAGGA	0.617000														73			53		0	0	0.000781405	0	0
TRIM29	23650	broad.mit.edu	37	11	119986080	119986080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:119986080G>A	uc001pwz.3	-	7	1794	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Missense_Mutation_p.P296L|TRIM29_uc010rzj.2_Missense_Mutation_p.P290L|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	557					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCAAGTCTGGGGCTGGGCCTT	0.627000														30			17		0	0	0.00278032	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397341	49397341	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49397341G>A	uc001rsy.3	-	10	847	c.741_splice	c.e10+1	p.I247_splice	PRKAG1_uc010smd.2_Splice_Site_p.I215_splice|PRKAG1_uc001rsz.3_Splice_Site_p.I256_splice	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	247	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AATCACTCACGATAACATCAA	0.532000														32			7		0	0	0.000157383	0	0
DFNA5	1687	broad.mit.edu	37	7	24745866	24745866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:24745866G>A	uc010kus.1	-	7	1208	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	DFNA5_uc003sxa.1_Missense_Mutation_p.P374S|DFNA5_uc010kut.1_Missense_Mutation_p.P210S	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	374					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCATCCTCGGGGCCCGGACAC	0.597000														48			29		0	0	0.0024448	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986310	51986310	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51986310A>C	uc002pwv.1	+	4	896	c.896A>C	c.(895-897)gAt>gCt	p.D299A		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	299	Ig-like C2-type.					integral to membrane		p.V298L(1)		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)		AATCCTGATGATTTCAACGGC	0.537000														168			46		0	0	0.000781405	0	0
GJA4	2701	broad.mit.edu	37	1	35260362	35260362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35260362C>T	uc009vul.3	+	1	800	c.776C>T	c.(775-777)cCc>cTc	p.P259L	GJA4_uc001bya.3_Missense_Mutation_p.P183L|GJA4_uc009vum.1_Missense_Mutation_p.P183L|GJA4_uc021olb.1_Missense_Mutation_p.P183L	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	183					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCATGGAGCCCGTGTTTGTG	0.587000														60			17		0	0	0.000566183	0	0
ZNF318	24149	broad.mit.edu	37	6	43325230	43325230	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:43325230G>A	uc003oux.3	-	2	900	c.822C>T	c.(820-822)ccC>ccT	p.P274P	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	274					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)			CATCATAACGGGGTCTTTTGG	0.488000														27			35		0	0	0.000814825	0	0
PCNT	5116	broad.mit.edu	37	21	47819662	47819662	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:47819662C>T	uc002zji.4	+	24	4850	c.4743C>T	c.(4741-4743)ctC>ctT	p.L1581L	PCNT_uc002zjj.3_Silent_p.L1463L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1581					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGCCCAGCTCCAGGAAGAAG	0.473000														112			38		0	0	0.000814825	0	0
CPA3	1359	broad.mit.edu	37	3	148601524	148601524	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148601524C>T	uc003ewm.3	+	8	955	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	301				I -> T (in Ref. 5; AAB22578).	proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGGTTTACATCACCTTCCATT	0.438000														35			15		0	0	0.000566183	0	0
MAP7	9053	broad.mit.edu	37	6	136698940	136698940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136698940G>A	uc011edg.2	-	6	1019	c.770C>T	c.(769-771)tCg>tTg	p.S257L	MAP7_uc011edf.2_Missense_Mutation_p.S220L|MAP7_uc010kgu.3_Missense_Mutation_p.S257L|MAP7_uc011edh.2_Missense_Mutation_p.S220L|MAP7_uc010kgv.3_Missense_Mutation_p.S257L|MAP7_uc010kgs.3_Missense_Mutation_p.S89L|MAP7_uc011edi.2_Missense_Mutation_p.S89L|MAP7_uc010kgq.2_Missense_Mutation_p.S141L|MAP7_uc003qgz.3_Missense_Mutation_p.S235L|MAP7_uc003qha.2_Missense_Mutation_p.S198L|MAP7_uc010kgr.2_Missense_Mutation_p.S89L|MAP7_uc010kgt.2_Missense_Mutation_p.S257L	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	235					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGCCAGGAACGAATGTGTGGG	0.527000														46			26		0	0	0.00127121	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396343	17396343	+	Missense_Mutation	SNP	C	T	T	rs149727291		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17396343C>T	uc010xpn.1	+	6	1678	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.R494W|ANKLE1_uc010eao.1_Missense_Mutation_p.R490W|ANKLE1_uc002nfy.2_Missense_Mutation_p.R457W|ANKLE1_uc002nfz.2_Missense_Mutation_p.R200W			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	494						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACGAGGGCCCGGCCATATGT	0.617000														112			39		0	0	0.00128727	0	0
RYR2	6262	broad.mit.edu	37	1	237969439	237969439	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:237969439C>T	uc001hyl.1	+	98	14274	c.14154C>T	c.(14152-14154)tcC>tcT	p.S4718S	RYR2_uc010pyb.1_Silent_p.S151S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4718					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)			CTTAATAGTCCTTCCTCTACC	0.398000														64			7		0	0	0.000157383	0	0
NFIA	4774	broad.mit.edu	37	1	61553989	61553989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:61553989G>A	uc010oos.2	+	2	413	c.331G>A	c.(331-333)Gag>Aag	p.E111K	NFIA_uc001czy.3_Missense_Mutation_p.E58K|NFIA_uc001czw.3_Missense_Mutation_p.E66K|NFIA_uc001czv.3_Missense_Mutation_p.E66K	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	66					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGAAAAACCAGAGGTCAAGCA	0.428000														63			18		0	0	0.00188189	0	0
MX2	4600	broad.mit.edu	37	21	42767678	42767678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:42767678G>A	uc002yzf.1	+	6	1140	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.E69K	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	346					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACCAAGAAAGAAATTACATT	0.488000														47			8		0	0	0.00136819	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182908376	182908376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182908376C>T	uc001gpu.3	-	4	1296	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.W218*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.W195*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.W57*	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	409										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AGTATTTTTTCCAGCATTCAA	0.358000														48			60		0	0	0.000781405	0	0
ECEL1	9427	broad.mit.edu	37	2	233348801	233348802	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233348801_233348802CC>GT	uc002vsv.2	-	6	1521_1522	c.1316_1317GG>AC	c.(1315-1317)cgg>cAC	p.R439H	ECEL1_uc010fya.1_Missense_Mutation_p.R439H|ECEL1_uc010fyb.1_Missense_Mutation_p.R146H	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	439					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCAAGCAGACCCGGGCCAGCTC	0.629000														61			30		0	0	6.4e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44171034	44171034	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:44171034C>T	uc002rtr.2	-	23	2355	c.2297_splice	c.e23-1	p.D766_splice	LRPPRC_uc010yob.1_Splice_Site_p.D666_splice	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	766					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)				TTAATAGCATCTACAATGAAG	0.368000														223			75		0	0	0.000781405	0	0
ZNF253	56242	broad.mit.edu	37	19	20002848	20002848	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20002848C>T	uc002noj.3	+	3	884	c.792C>T	c.(790-792)gcC>gcT	p.A264A	ZNF253_uc002nok.3_Silent_p.A188A|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	264				Missing (in Ref. 1; AAC26844).	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						GTGGCAAAGCCTTCAACCGAT	0.413000														28			10		0	0	0.000442599	0	0
FRAS1	80144	broad.mit.edu	37	4	79429917	79429917	+	Silent	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79429917A>G	uc003hlb.2	+	62	9977	c.9537A>G	c.(9535-9537)gaA>gaG	p.E3179E	FRAS1_uc003hlc.1_Silent_p.E181E	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3174					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						ACCATGTGGAAGAAGTTACCA	0.522000														25			8		0	0	0.000157383	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540786	133540786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:133540786C>T	uc002ttp.3	-	13	3972	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1200							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						GCTGTGATCTCCATGCTTGCT	0.488000														54			18		0	0	0.000566183	0	0
CCDC88C	440193	broad.mit.edu	37	14	91763744	91763744	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:91763744G>A	uc010aty.3	-	21	4025	c.3871C>T	c.(3871-3873)Ctg>Ttg	p.L1291L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1291					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)				TTGAGCTCCAGCTGCGCGTTG	0.602000														16			13		0	0	0.00185496	0	0
KRT33B	3884	broad.mit.edu	37	17	39521250	39521250	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39521250C>T	uc002hwl.3	-	6	922	c.877_splice	c.e6-1	p.R293_splice		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	293	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.R293Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAGAGAGTATCGCTGTGGTGG	0.552000														25			14		0	0	0.00185496	0	0
ACAN	176	broad.mit.edu	37	15	89402028	89402028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89402028G>A	uc010upo.1	+	11	6586	c.6212G>A	c.(6211-6213)gGa>gAa	p.G2071E	ACAN_uc010upp.1_Missense_Mutation_p.G2071E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2071					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)			GAGTCCAGTGGAAAAGTCTCC	0.522000														14			9		0	0	0.000442599	0	0
CACNA1G	8913	broad.mit.edu	37	17	48653522	48653522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48653522G>A	uc002irk.1	+	7	2131	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	CACNA1G_uc002iri.1_Missense_Mutation_p.G587R|CACNA1G_uc002irj.1_Missense_Mutation_p.G587R|CACNA1G_uc002irl.1_Missense_Mutation_p.G587R|CACNA1G_uc002irm.1_Missense_Mutation_p.G587R|CACNA1G_uc002irn.1_Missense_Mutation_p.G587R|CACNA1G_uc002iro.1_Missense_Mutation_p.G587R|CACNA1G_uc002irp.1_Missense_Mutation_p.G587R|CACNA1G_uc002irq.1_Missense_Mutation_p.G587R|CACNA1G_uc002irr.1_Missense_Mutation_p.G587R|CACNA1G_uc002irs.1_Missense_Mutation_p.G587R|CACNA1G_uc002irt.1_Missense_Mutation_p.G587R|CACNA1G_uc002iru.1_Missense_Mutation_p.G587R|CACNA1G_uc002irv.1_Missense_Mutation_p.G587R|CACNA1G_uc002irw.1_Missense_Mutation_p.G587R|CACNA1G_uc002irx.1_Missense_Mutation_p.G500R|CACNA1G_uc002iry.1_Missense_Mutation_p.G500R|CACNA1G_uc002isg.1_Missense_Mutation_p.G500R|CACNA1G_uc002ish.1_Missense_Mutation_p.G500R|CACNA1G_uc002isi.1_Missense_Mutation_p.G500R|CACNA1G_uc002irz.1_Missense_Mutation_p.G500R|CACNA1G_uc002isa.1_Missense_Mutation_p.G500R|CACNA1G_uc002isd.1_Missense_Mutation_p.G500R|CACNA1G_uc002isb.1_Missense_Mutation_p.G500R|CACNA1G_uc002isc.1_Missense_Mutation_p.G500R|CACNA1G_uc002ise.1_Missense_Mutation_p.G500R|CACNA1G_uc002isf.1_Missense_Mutation_p.G500R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	587					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTGGGCAGCGGGAAGGTGTA	0.657000														7			5		0	0	0.000602214	0	0
INSC	387755	broad.mit.edu	37	11	15197305	15197305	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:15197305G>A	uc001mlz.3	+	2	186	c.75G>A	c.(73-75)gtG>gtA	p.V25V	INSC_uc001mly.3_Silent_p.V72V|INSC_uc001mma.3_Silent_p.V25V|INSC_uc010rcs.2_Silent_p.V25V|INSC_uc001mmb.3_Silent_p.V25V|INSC_uc001mmc.3_Silent_p.V25V	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	72					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGATGCAGGTGGACTCAGTCC	0.512000														20			5		0	0	0.000602214	0	0
SCAND3	114821	broad.mit.edu	37	6	28540782	28540782	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28540782A>G	uc003nlo.3	-	3	3502	c.2884T>C	c.(2884-2886)Ttt>Ctt	p.F962L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	962					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caaaatttaaattccaaacca	0.368000														26			11		0	0	0.000673444	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509277	106509277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:106509277C>T	uc003vdv.4	+	1	1356	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	PIK3CG_uc003vdu.3_Missense_Mutation_p.P424L|PIK3CG_uc003vdw.3_Missense_Mutation_p.P424L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	424					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						AAAGACTTGCCCAAAGGGGCT	0.522000														3			48		0	0	0.000781405	0	0
ELP3	55140	broad.mit.edu	37	8	28017872	28017872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:28017872C>T	uc003xgo.4	+	12	1532	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	ELP3_uc003xgn.4_Missense_Mutation_p.R447C|ELP3_uc011las.2_Missense_Mutation_p.R343C|ELP3_uc011lat.2_Missense_Mutation_p.R343C|ELP3_uc011laq.2_Missense_Mutation_p.R390C|ELP3_uc011lar.2_Missense_Mutation_p.R370C	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	462	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)		AGAAACTTTCCGTTTCGAATT	0.473000														18			13		0	0	0.00185496	0	0
TMC5	79838	broad.mit.edu	37	16	19451968	19451968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														40			32		0	0	0.00283554	0	0
ANK3	288	broad.mit.edu	37	10	62023647	62023647	+	Silent	SNP	C	T	T	rs145034480	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:62023647C>T	uc001jky.3	-	5	983	c.645G>A	c.(643-645)acG>acA	p.T215T	ANK3_uc010qih.2_Silent_p.T198T|ANK3_uc001jkz.4_Silent_p.T209T|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	215					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D214N(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						CGGCGGCTTTCGTGTCGTCTT	0.542000														20			14		0	0	0.00244969	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177693	146177693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:146177693C>T	uc021xfa.1	-	3	658	c.218G>A	c.(217-219)tGg>tAg	p.W73*	PLSCR2_uc003evw.2_Nonsense_Mutation_p.W69*|PLSCR2_uc003evv.2_5'UTR	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCTGGCATCCATGGTACCCC	0.463000														25			33		0	0	0.00058488	0	0
C12orf66	144577	broad.mit.edu	37	12	64609701	64609701	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:64609701A>T	uc001srw.4	-	1	337	c.278T>A	c.(277-279)aTc>aAc	p.I93N		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	93								p.T92T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAAGTATAGATGGTGCGGAT	0.507000														27			11		0	0	0.000978159	0	0
IRF2	3660	broad.mit.edu	37	4	185311898	185311898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:185311898C>T	uc003iwf.4	-	7	900	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	234					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCAGTCGTTTCGCTTTCTGTT	0.537000														45			14		0	0	0.00244969	0	0
AQPEP	206338	broad.mit.edu	37	5	115327846	115327846	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:115327846A>C	uc003kro.3	+	4	1296	c.1132A>C	c.(1132-1134)Aac>Cac	p.N378H	AQPEP_uc003krp.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	378					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TAGTTTTGACAACCATGCAAT	0.313000														51			24		0	0	0.00106085	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130869	38130869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38130869G>A	uc003atr.3	+	8	4797	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	TRIOBP_uc003atu.3_Missense_Mutation_p.R1337K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1509					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)					CTAGGAAAGAGAAGCCCACTC	0.647000														68			14		0	0	0.00185496	0	0
GTSF1	121355	broad.mit.edu	37	12	54856450	54856450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54856450G>A	uc001sgb.3	-	4	390	c.304C>T	c.(304-306)Cct>Tct	p.P102S		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	102							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCATCGCAAGGAGGGCACTGC	0.438000														83			42		0	0	0.000781405	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833288	162833288	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:162833288C>T	uc002ubx.4	+	24	3430	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I	SLC4A10_uc010zcs.2_Silent_p.I1063I|SLC4A10_uc002uby.4_Silent_p.I1052I	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1082					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.I1052I(1)|p.I1082I(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						CATCTGTGATCAATATATCTG	0.363000														7			10		0	0	0.000673444	0	0
BEST3	144453	broad.mit.edu	37	12	70088168	70088168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70088168G>A	uc001svg.3	-	2	456	c.229C>T	c.(229-231)Cca>Tca	p.P77S	BEST3_uc001svd.2_Missense_Mutation_p.P77S|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	77						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGGTTACTGGAATTTGTTCA	0.403000														11			14		0	0	0.00244969	0	0
CACNA1E	777	broad.mit.edu	37	1	181762920	181762920	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181762920G>A	uc009wxt.3	+	44	6213	c.6018G>A	c.(6016-6018)gtG>gtA	p.V2006V	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2006					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						GTCTGACTGTGGATCCCCAGG	0.502000														24			16		0	0	0.000958276	0	0
USH2A	7399	broad.mit.edu	37	1	216073442	216073442	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:216073442C>T	uc001hku.1	-	39	7956	c.7569G>A	c.(7567-7569)tgG>tgA	p.W2523*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2523	Fibronectin type-III 11.				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)		TGAATGGAATCCAAGAACTAT	0.423000										HNSCC(13;0.011)				75			12		0	0	0.000422831	0	0
OR1J1	347168	broad.mit.edu	37	9	125239944	125239944	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125239944G>A	uc011lyu.2	-	0	262	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCTAGGTGCTGAGTCTGCATG	0.428000														58			51		0	0	0.000781405	0	0
ASAP2	8853	broad.mit.edu	37	2	9474912	9474912	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:9474912C>T	uc002qzh.2	+	7	1072	c.732C>T	c.(730-732)tcC>tcT	p.S244S	ASAP2_uc002qzi.2_Silent_p.S244S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	244					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.P243T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCAAACCTTCCATTGAAACGC	0.393000														80			26		0	0	0.00209593	0	0
CACNA1F	778	broad.mit.edu	37	X	49061645	49061646	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:49061645_49061646GA>AT	uc004dnb.3	-	47	5947_5948	c.5885_5886TC>AT	c.(5884-5886)ttc>tAT	p.F1962Y	CACNA1F_uc010nip.3_Missense_Mutation_p.F1951Y	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1962					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCTCATCGAAGCGGGAGAG	0.604000														0			13		0	0	6.4e-05	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010233	73010233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:73010233C>T	uc003tyn.1	-	13	2173	c.2125G>A	c.(2125-2127)Ggc>Agc	p.G709S	MLXIPL_uc003tyj.1_Missense_Mutation_p.G88S|MLXIPL_uc003tyk.1_Missense_Mutation_p.G688S|MLXIPL_uc003tym.1_Missense_Mutation_p.G690S|MLXIPL_uc003tyl.1_Missense_Mutation_p.G707S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.G615S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	709	Leucine-zipper.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTGCAAGCCCGCACGCTCC	0.632000														0			30		0	0	0.00178596	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650027	48650027	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48650027A>C	uc002irk.1	+	5	1231	c.859A>C	c.(859-861)Acg>Ccg	p.T287P	CACNA1G_uc002iri.1_Missense_Mutation_p.T287P|CACNA1G_uc002irj.1_Missense_Mutation_p.T287P|CACNA1G_uc002irl.1_Missense_Mutation_p.T287P|CACNA1G_uc002irm.1_Missense_Mutation_p.T287P|CACNA1G_uc002irn.1_Missense_Mutation_p.T287P|CACNA1G_uc002iro.1_Missense_Mutation_p.T287P|CACNA1G_uc002irp.1_Missense_Mutation_p.T287P|CACNA1G_uc002irq.1_Missense_Mutation_p.T287P|CACNA1G_uc002irr.1_Missense_Mutation_p.T287P|CACNA1G_uc002irs.1_Missense_Mutation_p.T287P|CACNA1G_uc002irt.1_Missense_Mutation_p.T287P|CACNA1G_uc002iru.1_Missense_Mutation_p.T287P|CACNA1G_uc002irv.1_Missense_Mutation_p.T287P|CACNA1G_uc002irw.1_Missense_Mutation_p.T287P|CACNA1G_uc002irx.1_Missense_Mutation_p.T200P|CACNA1G_uc002iry.1_Missense_Mutation_p.T200P|CACNA1G_uc002isg.1_Missense_Mutation_p.T200P|CACNA1G_uc002ish.1_Missense_Mutation_p.T200P|CACNA1G_uc002isi.1_Missense_Mutation_p.T200P|CACNA1G_uc002irz.1_Missense_Mutation_p.T200P|CACNA1G_uc002isa.1_Missense_Mutation_p.T200P|CACNA1G_uc002isd.1_Missense_Mutation_p.T200P|CACNA1G_uc002isb.1_Missense_Mutation_p.T200P|CACNA1G_uc002isc.1_Missense_Mutation_p.T200P|CACNA1G_uc002ise.1_Missense_Mutation_p.T200P|CACNA1G_uc002isf.1_Missense_Mutation_p.T200P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	287					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCGTGCCCACGCTGCGCGG	0.622000														10			3		0	0	6.4e-05	0	0
FLNC	2318	broad.mit.edu	37	7	128494728	128494728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:128494728G>A	uc003vnz.4	+	40	7198	c.6989G>A	c.(6988-6990)gGc>gAc	p.G2330D	FLNC_uc003voa.4_Missense_Mutation_p.G2297D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2330					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						GGTGTGGCCGGCGTGCCAGGT	0.672000														19			8		0	0	0.000157383	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333557	37333557	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37333557C>T	uc003aqa.4	+	13	1924	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P	CSF2RB_uc003aqc.4_Silent_p.P575P	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	569					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)	CCCCCAGCCCCCAGCCAGGCC	0.642000														52			17		0	0	0.00229938	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826760	93826760	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93826760G>A	uc001pep.2	+	12	2545	c.2388G>A	c.(2386-2388)gtG>gtA	p.V796V	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	796	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.T795K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAGAATTTGTGGAGATCAAAG	0.478000														36			33		0	0	0.00209593	0	0
TTC30B	150737	broad.mit.edu	37	2	178416698	178416698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:178416698C>T	uc002uln.3	-	0	827	c.794G>A	c.(793-795)aGa>aAa	p.R265K	TTC30B_uc010zfc.1_Missense_Mutation_p.R37K	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	265					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATAGTTTCTCAGTTGGTA	0.512000														119			45		0	0	0.00222228	0	0
TRERF1	55809	broad.mit.edu	37	6	42237097	42237097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:42237097C>T	uc003ose.2	-	4	795	c.232G>A	c.(232-234)Gat>Aat	p.D78N	TRERF1_uc011duq.1_Missense_Mutation_p.D78N|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.D78N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	78					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCGAGGTATCCATTTGGCCA	0.582000														37			40		0	0	0.00148497	0	0
PASK	23178	broad.mit.edu	37	2	242080004	242080004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242080004G>A	uc002wao.2	-	2	494	c.361C>T	c.(361-363)Cct>Tct	p.P121S	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Missense_Mutation_p.P121S|PASK_uc010fzl.2_Missense_Mutation_p.P121S|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.P121S|PASK_uc002waq.3_Missense_Mutation_p.P121S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	121	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGAAGCAGAGGTGAGGACCAC	0.612000														42			11		0	0	0.00185496	0	0
NCR3	259197	broad.mit.edu	37	6	31557900	31557900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31557900G>A	uc003nuv.2	-	1	311	c.47C>T	c.(46-48)tCc>tTc	p.S16F	NCR3_uc003nuw.2_Missense_Mutation_p.S16F|NCR3_uc003nux.1_Missense_Mutation_p.S16F	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	16					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	p.S16F(2)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GAGAGCACAGGATCCTGGGGG	0.562000														11			11		0	0	0.000673444	0	0
KCNA5	3741	broad.mit.edu	37	12	5154166	5154166	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5154166C>G	uc001qni.3	+	0	1082	c.853C>G	c.(853-855)Cct>Gct	p.P285A		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	285						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCTCCGCCACCCTCCGGCGCC	0.682000														46			28		0	0	0.000878237	0	0
ABCC4	10257	broad.mit.edu	37	13	95673930	95673930	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:95673930A>G	uc001vmd.4	-	30	3996	c.3877T>C	c.(3877-3879)Ttc>Ctc	p.F1293L	ABCC4_uc010afj.3_Missense_Mutation_p.F84L|ABCC4_uc010afk.3_Missense_Mutation_p.F1246L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1293					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTTCTTTTGAAGTATACCTAG	0.368000														2			39		0	0	0.00285205	0	0
NUP160	23279	broad.mit.edu	37	11	47862106	47862106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47862106C>T	uc001ngm.3	-	2	434	c.349G>A	c.(349-351)Gag>Aag	p.E117K	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.E117K|NUP160_uc001ngn.1_Missense_Mutation_p.E117K	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	117					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCCAGTGACTCCTCCATCAGC	0.388000														29			29		0	0	0.00178596	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884964	24884964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24884964C>T	uc001wpf.4	+	8	4327	c.4009C>T	c.(4009-4011)Ccc>Tcc	p.P1337S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1337					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCACCAGCCCCCCTGTCTC	0.612000														95			37		0	0	0.000692331	0	0
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:70488833G>A	uc001dep.3	+	14	1486	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	486						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						AGCCCCCTGGGAAAGGGGCCA	0.517000														28			16		0	0	0.00074312	0	0
SRP68	6730	broad.mit.edu	37	17	74060080	74060080	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:74060080C>A	uc002jqk.1	-	3	573	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	SRP68_uc010wsu.1_Missense_Mutation_p.A79S|SRP68_uc002jql.1_Missense_Mutation_p.A142S	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	180					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTGGTCTTGGCATCCACGCGA	0.443000														113			40		5.44703e-19	1.99287e-18	0.00222228	1	0
COL1A2	1278	broad.mit.edu	37	7	94055744	94055744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94055744G>A	uc003ung.1	+	45	3478	c.3007G>A	c.(3007-3009)Ggc>Agc	p.G1003S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1003			G -> D (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)	GGGCCCACAAGGCATTCGTGG	0.468000										HNSCC(75;0.22)				1			16		0	0	0.000422831	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035276	184035276	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:184035276C>T	uc003fnp.3	+	4	586	c.315C>T	c.(313-315)atC>atT	p.I105I	EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Silent_p.I112I|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Silent_p.I112I|EIF4G1_uc003fnq.3_Silent_p.I18I|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Silent_p.I65I|EIF4G1_uc010hxz.2_Silent_p.I18I|EIF4G1_uc003fnv.4_Silent_p.I105I|EIF4G1_uc003fnw.3_Silent_p.I112I|EIF4G1_uc003fnx.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	105					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTACTACATCCCTGGACAGG	0.587000														32			11		0	0	0.00185496	0	0
ZNF418	147686	broad.mit.edu	37	19	58437893	58437893	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58437893G>A	uc002qqs.1	-	3	1948	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.S467S	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S551C(1)		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)		GTCGAAGGAGGGAAGAGCTCT	0.453000														82			24		0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9086274	9086274	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9086274G>A	uc002mkp.3	-	0	5745	c.5541C>T	c.(5539-5541)ctC>ctT	p.L1847L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1847	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L1847L(3)		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						CCCCATGGCTGAGGTCAAGTG	0.502000														51			11		0	0	0.000978159	0	0
NOX4	50507	broad.mit.edu	37	11	89135579	89135579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:89135579C>T	uc001pct.3	-	8	1000	c.761G>A	c.(760-762)gGa>gAa	p.G254E	NOX4_uc009yvr.3_Missense_Mutation_p.G229E|NOX4_uc001pcu.3_Missense_Mutation_p.G180E|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.G254E|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.G88E|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.G230E|NOX4_uc009yvq.3_Missense_Mutation_p.G230E|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	254	Ferric oxidoreductase.|Mediates interaction with TLR4.				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)				TTTTGAAAATCCTTCAGGGAA	0.423000														27			22		0	0	0.00278032	0	0
ATG4B	23192	broad.mit.edu	37	2	242610752	242610752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242610752C>T	uc002wbv.3	+	11	1143	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	ATG4B_uc002wbu.3_Missense_Mutation_p.P273L|ATG4B_uc002wbw.3_Missense_Mutation_p.P347L|ATG4B_uc010zox.2_Missense_Mutation_p.P333L|ATG4B_uc010zoy.2_Missense_Mutation_p.P273L|ATG4B_uc010fzp.3_Missense_Mutation_p.P347L|ATG4B_uc010zoz.2_Missense_Mutation_p.P273L|ATG4B_uc002wby.3_Missense_Mutation_p.P100L|ATG4B_uc021vzj.1_5'Flank	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	347					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GGTGCCCTGCCCATGTTTGAG	0.627000														19			6		0	0	0.00198382	0	0
FAT3	120114	broad.mit.edu	37	11	92086899	92086899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:92086899G>A	uc001pdj.4	+	0	1638	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	541	Cadherin 5.				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)				ATCCTCCCCAGAAATTTACAG	0.398000										TCGA Ovarian(4;0.039)				118			114		0	0	0.000781405	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95119555	95119555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:95119555C>T	uc003klm.3	+	9	2048	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	504	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TACCAAGTGTCCAGACTGCAG	0.483000														111			52		0	0	0.000781405	0	0
PRDM2	7799	broad.mit.edu	37	1	14107394	14107394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:14107394C>T	uc001avi.3	+	7	3960	c.3104C>T	c.(3103-3105)cCt>cTt	p.P1035L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P1035L|PRDM2_uc001avk.3_Missense_Mutation_p.P834L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1035	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTCCCATTCCTCCCGTGGAG	0.572000														65			20		0	0	0.00152264	0	0
DSG3	1830	broad.mit.edu	37	18	29052688	29052688	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29052688G>A	uc002kws.3	+	14	2147	c.2038_splice	c.e14-1	p.E680_splice	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	680					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.E680K(1)		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)			TGGTTTGCAGGAAATCACAAA	0.353000														52			11		0	0	0.000673444	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561420	11561420	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11561420T>C	uc001ash.4	+	1	509	c.371T>C	c.(370-372)cTg>cCg	p.L124P	PTCHD2_uc001asi.1_Missense_Mutation_p.L124P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	124					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)		GCTCTCACTCTGGCGCTTAAG	0.572000														57			8		0	0	0.000274275	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833439	125833439	+	Silent	SNP	G	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:125833439G>T	uc003eim.1	-	17	2233	c.2043C>A	c.(2041-2043)atC>atA	p.I681I	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.I580I|ALDH1L1_uc003ein.1_Silent_p.I216I	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	681	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGCAAAGATGATGAGGGGTG	0.617000														79			36		4.14194e-30	1.51921e-29	0.00285205	1	0
CHST5	23563	broad.mit.edu	37	16	75563490	75563490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:75563490G>A	uc002fej.1	-	4	1132	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	CHST5_uc002fei.3_Missense_Mutation_p.R265C|CHST5_uc021tlk.1_Missense_Mutation_p.R265C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	265					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.S270I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACACCTCGCGAATCAGGCGC	0.716000														46			19		0	0	0.00074312	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959788	39959788	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39959788C>T	uc002olo.4	+	14	1392	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SUPT5H_uc002olp.4_Silent_p.L405L|SUPT5H_uc002olq.4_Silent_p.L401L|SUPT5H_uc002oln.4_Silent_p.L405L|SUPT5H_uc002olr.4_Silent_p.L405L|SUPT5H_uc002ols.1_Silent_p.L28L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	405	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCATTGACCTGGAGGTGGT	0.597000														68			17		0	0	0.000422831	0	0
REN	5972	broad.mit.edu	37	1	204128574	204128574	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:204128574G>A	uc001haq.2	-	4	686	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	214					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)	CCCCTTGGGAGATGATGTTGT	0.562000														79			17		0	0	0.00121646	0	0
THSD7B	80731	broad.mit.edu	37	2	137928430	137928430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:137928430G>A	uc002tva.1	+	5	1552	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E408K	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)		GCTGGCATCAGAAGGGATCTG	0.537000														28			10		0	0	0.000673444	0	0
C10orf12	26148	broad.mit.edu	37	10	98744594	98744594	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:98744594C>T	uc001kmv.3	+	0	3554	c.3447C>T	c.(3445-3447)atC>atT	p.I1149I		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1149										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGTGAAGATCCCTAAAAAGT	0.502000														26			10		0	0	0.000978159	0	0
PSME2	5721	broad.mit.edu	37	14	24613200	24613200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24613200G>A	uc001wmj.3	-	8	601	c.536C>T	c.(535-537)tCc>tTc	p.S179F	FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	179					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	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGTCTCCTTGGAGGCCTTGGC	0.537000														101			45		0	0	0.000781405	0	0
CAPN6	827	broad.mit.edu	37	X	110494210	110494210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:110494210C>T	uc004epc.2	-	7	1284	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	CAPN6_uc011msu.2_Missense_Mutation_p.D110N	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	365	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						ATCAGGGGATCATCATCCACA	0.473000														92			86		0	0	0.000781405	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082411	8082411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8082411C>T	uc001qtr.3	-	5	992	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	244					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCACTCTCATCTTTCATCTCC	0.483000														88			6		0	0	0.000978159	0	0
CXCR1	3577	broad.mit.edu	37	2	219029419	219029419	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219029419G>A	uc021vwq.1	-	0	516	c.516C>T	c.(514-516)ttC>ttT	p.F172F	CXCR1_uc002vhc.3_Silent_p.F172F	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	172					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGCGGAAAAGGAAGAAGGGCA	0.517000														27			13		0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21249778	21249778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21249778C>T	uc002red.3	-	14	2254	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	709					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)	TGGGAAAAATCCTTGCTTCCC	0.418000														399			130		0	0	0.000781405	0	0
VENTX	27287	broad.mit.edu	37	10	135053291	135053291	+	Missense_Mutation	SNP	C	T	T	rs139243086		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:135053291C>T	uc010quy.1	+	1	364	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	118					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACCTGAGCCCTCTGGAGCGG	0.677000														52			12		0	0	0.000308642	0	0
CSMD3	114788	broad.mit.edu	37	8	113403015	113403015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:113403015G>A	uc003ynu.3	-	35	5971	c.5812C>T	c.(5812-5814)Ccc>Tcc	p.P1938S	CSMD3_uc003yns.3_Missense_Mutation_p.P1140S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1898S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1834S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1938						integral to membrane|plasma membrane		p.P1938P(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						CCACCACAGGGCACTGAAAAT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				10			25		0	0	0.00278032	0	0
KANK4	163782	broad.mit.edu	37	1	62739788	62739788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:62739788C>T	uc001dah.4	-	2	1365	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	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.	330										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						CCCAGGCTTTCCTCAGTTACC	0.572000														88			19		0	0	0.00121646	0	0
ITGA5	3678	broad.mit.edu	37	12	54799118	54799118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54799118G>A	uc001sga.3	-	11	1125	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	353					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCAGGGGTCCGATCCATGAGC	0.657000														17			6		0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13727616	13727616	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13727616C>T	uc003jfd.2	-	70	12075	c.12033_splice	c.e70+1	p.Q4011_splice	DNAH5_uc003jfc.2_Splice_Site_p.Q179_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4011					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)					GACTTTTTACCTGGGCGATGG	0.338000									Kartagener syndrome					24			8		0	0	0.000274275	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063071	41063071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41063071G>A	uc002ony.3	+	25	5518	c.5432G>A	c.(5431-5433)gGa>gAa	p.G1811E	SPTBN4_uc002onx.3_Missense_Mutation_p.G1811E|SPTBN4_uc002onz.3_Missense_Mutation_p.G1811E|SPTBN4_uc010egx.3_Missense_Mutation_p.G554E|SPTBN4_uc002ooa.3_Missense_Mutation_p.G487E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1811					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)			TGGAAGGACGGACTGAACGAG	0.637000														35			25		0	0	0.00106085	0	0
KRBA1	84626	broad.mit.edu	37	7	149422475	149422475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:149422475C>T	uc003wfz.3	+	9	1595	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.S67L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	399										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)			CCAAATGGGTCGTCACCTTCC	0.582000														11			11		0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	114185968	114185968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:114185968G>A	uc003ynu.3	-	3	851	c.692C>T	c.(691-693)cCt>cTt	p.P231L	CSMD3_uc003ynt.3_Missense_Mutation_p.P191L|CSMD3_uc011lhx.2_Missense_Mutation_p.P231L|CSMD3_uc010mcx.1_Missense_Mutation_p.P231L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	231	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATAGGAACAGGAAAATCCCA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				52			9		0	0	0.000978159	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68935687	68935687	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:68935687G>A	uc003hdt.1	-	6	602	c.553_splice	c.e6+1	p.R185_splice	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	185					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGAACTTACGACTGTTGAGA	0.318000														75			107		0	0	0.000781405	0	0
LCN15	389812	broad.mit.edu	37	9	139656668	139656668	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:139656668C>T	uc004cjd.3	-	4	517	c.492G>A	c.(490-492)aaG>aaA	p.K164K		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	Homo sapiens lipocalin 15 (LCN15), mRNA.	164			K -> E (in dbSNP:rs2297722).		lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						CCATCATGTCCTTGGGGAGCC	0.647000														1			5		0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9046168	9046168	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9046168A>C	uc002mkp.3	-	4	35667	c.35463T>G	c.(35461-35463)tcT>tcG	p.S11821S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11823	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						GGGTGAAGAGAGAGGATGTTG	0.493000														22			20		0	0	0.00121646	0	0
MYO18B	84700	broad.mit.edu	37	22	26270358	26270358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26270358C>T	uc003abz.1	+	22	4307	c.4057C>T	c.(4057-4059)Cgc>Tgc	p.R1353C	MYO18B_uc003aca.1_Missense_Mutation_p.R1234C|MYO18B_uc010guy.1_Missense_Mutation_p.R1235C|MYO18B_uc010guz.1_Missense_Mutation_p.R1234C|MYO18B_uc011aka.1_Missense_Mutation_p.R507C|MYO18B_uc011akb.1_Missense_Mutation_p.R866C	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1353	IQ.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.S1353C(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						CTTTCTGTCTCGCCAGGAATT	0.547000														63			16		0	0	0.000308642	0	0
CLVS1	157807	broad.mit.edu	37	8	62212699	62212699	+	Silent	SNP	C	T	T	rs149356822		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:62212699C>T	uc003xuh.3	+	1	637	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	CLVS1_uc003xug.2_Silent_p.L105L|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	105					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						CCAGCTAAACCTGGACATGTT	0.517000														18			9		0	0	0.000274275	0	0
C1orf168	199920	broad.mit.edu	37	1	57206409	57206409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57206409C>T	uc001cym.4	-	12	2070	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	555										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TATTTTAAATCTATCCTTTTC	0.348000														12			5		0	0	0.000157383	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152246	72152246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72152246C>T	uc001xms.3	+	9	3633	c.3272C>T	c.(3271-3273)tCg>tTg	p.S1091L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1091L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1091L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1091L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S566L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1091					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)		CCCATGACCTCGCGGCTGAAT	0.562000														35			10		0	0	0.000442599	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257788	41257788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41257788C>T	uc003azj.3	-	0	343	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	71					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTAATCCTTCTGTGCCATAT	0.348000														372			59		0	0	0.000781405	0	0
ATP2B2	491	broad.mit.edu	37	3	10430007	10430007	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:10430007G>A	uc003bvt.3	-	5	1300	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP2B2_uc003bvv.3_Silent_p.T287T|ATP2B2_uc003bvw.3_Silent_p.T287T|ATP2B2_uc010hdp.2_Silent_p.T287T|ATP2B2_uc010hdo.3_Silent_p.T23T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	287					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.F286Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCAGGAGGGTAAAGATGA	0.522000														164			53		0	0	0.000781405	0	0
NF1	4763	broad.mit.edu	37	17	29562966	29562966	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:29562966C>T	uc002hgg.3	+	28	4284	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	NF1_uc002hgh.3_Silent_p.L1301L|NF1_uc010csn.2_Silent_p.L1161L|NF1_uc002hgi.1_Silent_p.L334L	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1301	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				81			34		0	0	0.000814825	0	0
LEPREL1	55214	broad.mit.edu	37	3	189688623	189688623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:189688623C>T	uc011bsk.2	-	12	2263	c.1875G>A	c.(1873-1875)atG>atA	p.M625I	LEPREL1_uc003fsg.3_Missense_Mutation_p.M444I	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	625	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	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 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTTAGCATCCATCTCTGTGA	0.308000														49			10		0	0	0.00244969	0	0
DNAH17	8632	broad.mit.edu	37	17	76526534	76526534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76526534G>A	uc010dhp.2	-	20	3300	c.3175C>T	c.(3175-3177)Cac>Tac	p.H1059Y		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)			AGCCAGCCGTGGAACACCTTG	0.607000														100			23		0	0	0.000878237	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320464	136320464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:136320464C>T	uc004cdv.4	+	24	3751	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	ADAMTS13_uc004cdp.4_Nonsense_Mutation_p.Q330*|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1103*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1072*|ADAMTS13_uc004cdw.4_Nonsense_Mutation_p.Q1103*|ADAMTS13_uc004cdx.4_Nonsense_Mutation_p.Q1072*|ADAMTS13_uc004cdz.4_Nonsense_Mutation_p.Q773*|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1103	TSP type-1 8.				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)		CCTCGGACCCCAGGCCCAGGC	0.667000														148			41		0	0	0.00285205	0	0
TRIM36	55521	broad.mit.edu	37	5	114466515	114466515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:114466515G>A	uc003kqs.3	-	8	2115	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	TRIM36_uc011cwc.2_Missense_Mutation_p.R524C|TRIM36_uc003kqt.3_Missense_Mutation_p.R381C	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	536	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTCTCTACACGGTCTCTCTTC	0.398000														31			41		0	0	0.00222228	0	0
OR2W5	441932	broad.mit.edu	37	1	247655219	247655219	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:247655219C>T	uc001icz.2	+	0	850	c.790C>T	c.(790-792)Caa>Taa	p.Q264*		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	264					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)			TGAAGCCGGCCAACAGCTACT	0.522000														43			63		0	0	0.000781405	0	0
ADCK4	79934	broad.mit.edu	37	19	41208507	41208507	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41208507G>A	uc002oor.2	-	9	1193	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Silent_p.F256F	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	297	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CAGCTCACCTGAAATTCTGGG	0.642000														83			24		0	0	0.000878237	0	0
ADAM28	10863	broad.mit.edu	37	8	24201093	24201093	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:24201093C>T	uc003xdy.3	+	17	2069	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.V349V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	662					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)		CCTCAGTGGTCTTCCGTAGGT	0.448000														11			7		0	0	0.00198382	0	0
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51171359G>A	uc021tif.1	-	2	3670	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.F65F	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1213					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)			ACATTTCTGGGAACTTGACGG	0.567000														34			11		0	0	0.000673444	0	0
LRRC36	55282	broad.mit.edu	37	16	67381445	67381445	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67381445T>A	uc002esv.3	+	3	458	c.439T>A	c.(439-441)Ttt>Att	p.F147I	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Missense_Mutation_p.F26I|LRRC36_uc002esx.3_Missense_Mutation_p.F26I|LRRC36_uc010vjk.2_Missense_Mutation_p.F26I|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	147										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAAGCTGCATTTTAGTCAGTT	0.378000														52			29		0	0	0.00178596	0	0
NCOA5	57727	broad.mit.edu	37	20	44691023	44691023	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:44691023A>C	uc002xrd.3	-	6	2184	c.1656T>G	c.(1654-1656)ccT>ccG	p.P552P	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.P552P	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	552	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGGAGAGAGCAGGGCCACTCT	0.527000														34			12		0	0	0.00185496	0	0
PRX	57716	broad.mit.edu	37	19	40900623	40900623	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40900623C>T	uc002onr.3	-	6	3905	c.3636G>A	c.(3634-3636)aaG>aaA	p.K1212K	PRX_uc002onq.3_Silent_p.K1073K|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1212	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGTGGGCATCTTAAAGACAC	0.662000														63			22		0	0	0.00278032	0	0
BRSK1	84446	broad.mit.edu	37	19	55816264	55816264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55816264C>T	uc002qkf.3	+	15	1868	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	BRSK1_uc002qkg.3_Missense_Mutation_p.R565C|BRSK1_uc002qkh.3_Missense_Mutation_p.R260C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	565					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGGCTCCCCTCGCTTTCACCG	0.647000														41			8		0	0	0.000442599	0	0
BARX2	8538	broad.mit.edu	37	11	129306851	129306851	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129306851G>A	uc001qfc.4	+	1	443	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	131										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCGACAGAAGAAGCCCCGCC	0.632000														6			7		0	0	0.00198382	0	0
OR5M8	219484	broad.mit.edu	37	11	56258650	56258650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56258650G>A	uc001nix.1	-	0	197	c.197C>T	c.(196-198)tCc>tTc	p.S66F	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATCCACGAAGGATAAGTGGCT	0.488000														33			21		0	0	0.00152264	0	0
TAAR1	134864	broad.mit.edu	37	6	132966382	132966382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:132966382C>T	uc003qdm.1	-	0	761	c.761G>A	c.(760-762)gGg>gAg	p.G254E		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	254						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CATCACAATCCCCAATGTCTT	0.378000														12			12		0	0	0.00136819	0	0
OR5L1	219437	broad.mit.edu	37	11	55579799	55579799	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55579799A>G	uc001nhw.1	+	0	857	c.857A>G	c.(856-858)aAc>aGc	p.N286S		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				CCTATGCTGAACTCTGTGATC	0.438000														11			11		0	0	0.00136819	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185386	39185386	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39185386C>T	uc003cjg.3	-	4	1144	c.930G>A	c.(928-930)agG>agA	p.R310R	CSRNP1_uc003cjh.3_Silent_p.R310R	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	310					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCCAGCTCCCTAAAGCTCT	0.607000														23			22		0	0	0.00278032	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370431	35370431	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35370431T>G	uc001byc.3	-	0	554	c.554A>C	c.(553-555)cAc>cCc	p.H185P		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	185					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGAGTGGGACTTGGC	0.667000														51			12		0	0	0.00244969	0	0
MOB3C	148932	broad.mit.edu	37	1	47080746	47080746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47080746C>T	uc001cqe.4	-	0	60	c.3G>A	c.(1-3)atG>atA	p.M1I	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	0							metal ion binding										TTCTGCGCTTCATTTGCCATC	0.527000														36			24		0	0	0.00047179	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723084	58723084	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:58723084G>A	uc001nnh.2	+	7	635	c.585_splice	c.e7-1	p.S195_splice	GLYATL1_uc001nnf.3_Splice_Site_p.S164_splice|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Splice_Site_p.S164_splice|GLYATL1_uc001nnj.2_Splice_Site_p.S164_splice	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	164						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)	TGTCTACAGTGAAACTCCCAA	0.428000														14			11		0	0	0.00136819	0	0
ACSS3	79611	broad.mit.edu	37	12	81545701	81545701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81545701G>A	uc001szl.1	+	5	1091	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACSS3_uc001szm.1_Missense_Mutation_p.E333K|ACSS3_uc001szn.1_Missense_Mutation_p.E16K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	334						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						TCAACCCGGAGAGGTAATCGT	0.388000														12			31		0	0	0.00178596	0	0
RBP3	5949	broad.mit.edu	37	10	48389662	48389662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:48389662C>T	uc001jez.3	-	0	1330	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	406	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E406K(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652000														59			11		0	0	0.00136819	0	0
CA8	767	broad.mit.edu	37	8	61135273	61135273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:61135273G>A	uc003xtz.1	-	6	921	c.673C>T	c.(673-675)Cca>Tca	p.P225S	CA8_uc003xua.1_Missense_Mutation_p.P225S	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	225					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTGCAAGGTGGGATGGTGAGA	0.458000														26			41		0	0	0.0025221	0	0
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:14387901C>A	uc003jff.3	+	22	3832	c.3826C>A	c.(3826-3828)Cga>Aga	p.R1276R	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.R1227R|TRIO_uc003jfh.1_Silent_p.R925R	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433000														31			28		5.91797e-21	2.16595e-20	0.0024448	1	0
MOB3C	148932	broad.mit.edu	37	1	47080744	47080744	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47080744T>C	uc001cqe.4	-	0	62	c.5A>G	c.(4-6)aAg>aGg	p.K2R	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	0							metal ion binding										ATTTCTGCGCTTCATTTGCCA	0.522000														35			23		0	0	0.00047179	0	0
CCDC65	85478	broad.mit.edu	37	12	49315121	49315121	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49315121G>A	uc001rso.3	+	7	1577	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	450										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACGAAGTGCTGAGCCAGCTCA	0.493000														42			24		0	0	0.00047179	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033225	52033225	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:52033225G>A	uc002pwy.3	-	4	973	c.765C>T	c.(763-765)atC>atT	p.I255I	SIGLEC6_uc002pwz.3_Silent_p.I239I|SIGLEC6_uc010ydb.2_Silent_p.I203I|SIGLEC6_uc010ydc.2_Silent_p.I266I|SIGLEC6_uc002pxa.3_Silent_p.I255I|SIGLEC6_uc010eoz.2_Silent_p.I244I|SIGLEC6_uc010epa.2_Silent_p.I244I|SIGLEC6_uc010epb.2_Silent_p.I208I	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	255	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTTTTGCAGGATTTTGAAGG	0.592000														102			22		0	0	0.00047179	0	0
ODZ2	57451	broad.mit.edu	37	5	167420183	167420183	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167420183C>T	uc010jjd.3	+	4	1182	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	ODZ2_uc021yhi.1_Silent_p.F324F|ODZ2_uc003lzq.2_Silent_p.F273F|ODZ2_uc003lzr.4_Silent_p.F203F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGCGTATTTCATAGGTAAGT	0.532000														30			19		0	0	0.00121646	0	0
EXO1	9156	broad.mit.edu	37	1	242042534	242042534	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:242042534C>T	uc021plj.1	+	10	2312	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	EXO1_uc001hzh.3_Silent_p.P666P|EXO1_uc009xgq.3_Silent_p.P665P|EXO1_uc021plk.1_Silent_p.P666P	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	666	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGTCTCATCCCTTACGAGAAG	0.468000								Editing and processing nucleases						63			20		0	0	0.00152264	0	0
LAX1	54900	broad.mit.edu	37	1	203743613	203743613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203743613G>A	uc001haa.3	+	4	1411	c.1001G>A	c.(1000-1002)tGt>tAt	p.C334Y	LAX1_uc010pql.2_Missense_Mutation_p.C318Y|LAX1_uc001hab.3_Missense_Mutation_p.C258Y	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	334					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGTCCAATGTGTCAAAAGG	0.478000														99			53		0	0	0.000781405	0	0
DSC3	1825	broad.mit.edu	37	18	28588235	28588235	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28588235C>T	uc002kwj.4	-	10	1675	c.1520_splice	c.e10+1	p.R507_splice	DSC3_uc002kwi.4_Splice_Site_p.R507_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	507	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTATTTTTACCTTAAACCATT	0.318000														32			14		0	0	0.000422831	0	0
FBN3	84467	broad.mit.edu	37	19	8176551	8176551	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8176551C>T	uc002mjf.3	-	30	4082	c.4065G>A	c.(4063-4065)ggG>ggA	p.G1355G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1355	EGF-like 20; 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						AGAAGCCATCCCCGGCAAAGC	0.632000														11			15		0	0	0.000422831	0	0
SHB	6461	broad.mit.edu	37	9	37919910	37919910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37919910C>T	uc004aax.3	-	5	2006	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	480	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGGATGACTTCCGGGACACTG	0.532000														29			45		0	0	0.00285205	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353292	133353292	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:133353292G>A	uc001ukz.1	-	20	4465	c.3906C>T	c.(3904-3906)tcC>tcT	p.S1302S	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.S1302S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1302	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCTTCAAGGACTGGATTT	0.502000														67			24		0	0	0.00229938	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24979684	24979684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:24979684G>A	uc002dnb.3	-	5	542	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ARHGAP17_uc002dnc.3_Missense_Mutation_p.S150L|ARHGAP17_uc010vcf.2_5'UTR|ARHGAP17_uc002dng.1_Missense_Mutation_p.S150L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	150	BAR.				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)		GGCTCTGACTGAATCCCAGTC	0.493000														50			25		0	0	0.00178596	0	0
C17orf101	79701	broad.mit.edu	37	17	80373320	80373320	+	Silent	SNP	G	A	A	rs145904574		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:80373320G>A	uc002ket.2	-	1	410	c.258C>T	c.(256-258)atC>atT	p.I86I	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.I86I|HEXDC_uc002kev.4_5'Flank	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	86						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						AGGGCACCTCGATGAATCTCC	0.582000														155			52		0	0	0.000781405	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053931	34053931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:34053931C>T	uc002yqh.2	-	10	1345	c.1345G>A	c.(1345-1347)Ggt>Agt	p.G449S	SYNJ1_uc011ads.1_Missense_Mutation_p.G410S|SYNJ1_uc002yqf.2_Missense_Mutation_p.G410S|SYNJ1_uc002yqg.2_Missense_Mutation_p.G410S|SYNJ1_uc002yqi.2_Missense_Mutation_p.G449S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	410							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAGCTAAACCAAGAGCTTCC	0.343000														52			15		0	0	0.000308642	0	0
RBM38	55544	broad.mit.edu	37	20	55982684	55982684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:55982684C>T	uc010zzj.2	+	3	686	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	168					3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCTGTCCTCGCCCTACATTGA	0.682000														36			12		0	0	0.00185496	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298101	120298102	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:120298101_120298102CC>AA	uc001eid.3	-	5	1223_1224	c.1135_1136GG>TT	c.(1135-1137)ggg>TTg	p.G379L	HMGCS2_uc010oxj.2_Missense_Mutation_p.G337L|HMGCS2_uc021osw.1_Missense_Mutation_p.G145L	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.	379					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.G379V(2)		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)		GTACATGTTCCCATTGTGAGTG	0.535000														845			14		0	0	6.4e-05	0	0
TNK2	10188	broad.mit.edu	37	3	195615303	195615303	+	Missense_Mutation	SNP	G	A	A	rs142416449		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:195615303G>A	uc003fvu.1	-	1	700	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	TNK2_uc003fvs.1_Missense_Mutation_p.R85W|TNK2_uc003fvt.1_Missense_Mutation_p.R116W|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Missense_Mutation_p.R67W	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	53	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTACCAGGCCGACCCATGCCG	0.597000														43			17		0	0	0.00074312	0	0
FAM183A	440585	broad.mit.edu	37	1	43621918	43621918	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43621918G>A	uc009vwo.3	+	3	368	c.339G>A	c.(337-339)agG>agA	p.R113R		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	Homo sapiens family with sequence similarity 183, member A (FAM183A), mRNA.	113										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						ATCACTTCAGGGTCTGCAGTG	0.512000														99			20		0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13718991	13718991	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13718991C>T	uc003jfd.2	-	72	12541	c.12499_splice	c.e72+1	p.G4167_splice	DNAH5_uc003jfc.2_Splice_Site_p.G335_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4167	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)					CTGGACTCACCACTATATGTT	0.388000									Kartagener syndrome					44			11		0	0	0.000978159	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646309	48646309	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48646309C>T	uc002irk.1	+	1	693	c.321C>T	c.(319-321)atC>atT	p.I107I	CACNA1G_uc002iri.1_Silent_p.I107I|CACNA1G_uc002irj.1_Silent_p.I107I|CACNA1G_uc002irl.1_Silent_p.I107I|CACNA1G_uc002irm.1_Silent_p.I107I|CACNA1G_uc002irn.1_Silent_p.I107I|CACNA1G_uc002iro.1_Silent_p.I107I|CACNA1G_uc002irp.1_Silent_p.I107I|CACNA1G_uc002irq.1_Silent_p.I107I|CACNA1G_uc002irr.1_Silent_p.I107I|CACNA1G_uc002irs.1_Silent_p.I107I|CACNA1G_uc002irt.1_Silent_p.I107I|CACNA1G_uc002iru.1_Silent_p.I107I|CACNA1G_uc002irv.1_Silent_p.I107I|CACNA1G_uc002irw.1_Silent_p.I107I|CACNA1G_uc002irx.1_Silent_p.I20I|CACNA1G_uc002iry.1_Silent_p.I20I|CACNA1G_uc002isg.1_Silent_p.I20I|CACNA1G_uc002ish.1_Silent_p.I20I|CACNA1G_uc002isi.1_Silent_p.I20I|CACNA1G_uc002irz.1_Silent_p.I20I|CACNA1G_uc002isa.1_Silent_p.I20I|CACNA1G_uc002isd.1_Silent_p.I20I|CACNA1G_uc002isb.1_Silent_p.I20I|CACNA1G_uc002isc.1_Silent_p.I20I|CACNA1G_uc002ise.1_Silent_p.I20I|CACNA1G_uc002isf.1_Silent_p.I20I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	107					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.I107I(3)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGAGGACATCGCCTGTGACT	0.562000														15			23		0	0	0.00047179	0	0
FRMD5	84978	broad.mit.edu	37	15	44180422	44180422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:44180422C>T	uc001ztl.3	-	9	1012	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.A185T|FRMD5_uc010uef.2_5'Flank|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.A45T	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	279	FERM.					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)		TGCTTACACGCTTCAGGAGTT	0.428000														10			26		0	0	0.00127121	0	0
ELN	2006	broad.mit.edu	37	7	73483003	73483003	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:73483003G>A	uc003tzw.3	+	32	2257	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	ELN_uc003tzn.3_Silent_p.G716G|ELN_uc003tzy.3_Silent_p.G692G|ELN_uc003tzz.3_Silent_p.G635G|ELN_uc003tzo.3_Silent_p.G650G|ELN_uc003tzp.3_Silent_p.G609G|ELN_uc003tzq.3_Silent_p.G562G|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.G697G|ELN_uc003tzt.3_Silent_p.G703G|ELN_uc003tzu.3_Silent_p.G684G|ELN_uc003tzv.3_Silent_p.G669G|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.G706G|ELN_uc011kff.2_Silent_p.G698G	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	778	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCTGCCTGGGGAAAGCTTGTG	0.577000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							68			19		0	0	0.00188189	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:100211914G>A	uc001pga.3	+	22	3511	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_uc021qpb.1_Missense_Mutation_p.E1003K|CNTN5_uc021qpc.1_Missense_Mutation_p.E929K|CNTN5_uc010ruk.2_Missense_Mutation_p.E274K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1003	Fibronectin type-III 4.				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)		ATTAGCCAACGAATCTGAAGT	0.433000														41			22		0	0	0.00278032	0	0
CLCC1	23155	broad.mit.edu	37	1	109479864	109479865	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	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														863			14		0	0	6.4e-05	0	0
FCAMR	83953	broad.mit.edu	37	1	207133109	207133109	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207133109G>A	uc001hfa.4	-	6	1988	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	FCAMR_uc001hfb.3_Missense_Mutation_p.P229L|FCAMR_uc009xca.2_Missense_Mutation_p.P229L	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	451						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CAGGAGCCAGGGTCCGAGAGC	0.517000														190			43		0	0	0.000781405	0	0
TAT	6898	broad.mit.edu	37	16	71602167	71602167	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:71602167G>A	uc002fap.2	-	11	1344	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	415					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)	CCACTCGGATGAAATTCGGGT	0.522000														37			17		0	0	0.000566183	0	0
POU2F3	25833	broad.mit.edu	37	11	120175796	120175796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120175796C>T	uc021qrk.1	+	6	542	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	POU2F3_uc001pxc.3_Nonsense_Mutation_p.Q168*|POU2F3_uc010rzk.2_Nonsense_Mutation_p.Q122*|POU2F3_uc010rzl.2_Nonsense_Mutation_p.Q98*|POU2F3_uc001pxe.1_5'Flank	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	168					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGAAGCATCCCAGCATCTCCC	0.567000														41			21		0	0	0.00152264	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938786	119938786	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:119938786T>G	uc003yon.4	-	3	1087	c.764A>C	c.(763-765)aAg>aCg	p.K255T	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	255	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTCCATAACTTCAGCAGCTG	0.383000														126			29		0	0	0.00058488	0	0
PASK	23178	broad.mit.edu	37	2	242051780	242051780	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242051780G>A	uc002wao.2	-	14	3541	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	PASK_uc010zol.2_Silent_p.I950I|PASK_uc010zom.2_Silent_p.I1101I|PASK_uc010fzl.2_Silent_p.I1143I|PASK_uc010zon.2_Silent_p.I917I|PASK_uc021vzf.1_Silent_p.I1136I	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1136	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTCCTCGGCGATCACGATGT	0.502000														32			24		0	0	0.00106085	0	0
PTGS2	5743	broad.mit.edu	37	1	186645797	186645797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186645797C>T	uc001gsb.3	-	6	909	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PTGS2_uc009wyo.3_Missense_Mutation_p.E105K	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	258					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	TAGATCATCTCTGCCTGAGTA	0.413000														38			7		0	0	0.00198382	0	0
ACAN	176	broad.mit.edu	37	15	89400846	89400846	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89400846A>G	uc010upo.1	+	11	5404	c.5030A>G	c.(5029-5031)gAa>gGa	p.E1677G	ACAN_uc010upp.1_Missense_Mutation_p.E1677G|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1677					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)			ACTGCAAGTGAACTGGAAGGG	0.527000														74			33		0	0	0.00283554	0	0
CDR1	1038	broad.mit.edu	37	X	139866342	139866342	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:139866342G>A	uc004fbg.1	-	0	382	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	64	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AGGTCTTCCAGGAAATCCGTG	0.443000														5			55		0	0	0.000781405	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799065	16799065	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16799065C>T	uc002nes.3	+	5	874	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	261						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACCACGACAACCATGGTGGGT	0.637000														91			33		0	0	0.00178596	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				93			202		0	0	0.000781405	0	0
DLG5	9231	broad.mit.edu	37	10	79603373	79603373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:79603373G>A	uc001jzk.3	-	5	1026	c.956C>T	c.(955-957)gCc>gTc	p.A319V	DLG5_uc001jzj.3_Missense_Mutation_p.A74V|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'Flank	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	319					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCCGAAGGGCGTCATAGTC	0.552000														42			34		0	0	0.000953801	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682655	140682655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140682655C>T	uc003ljf.3	-	0	958	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	260					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTATTCCTTCATTTCTCACA	0.423000														31			10		0	0	0.000442599	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35957327C>T	uc003jjv.2	-	4	1231	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V346V|UGT3A1_uc011cor.2_Silent_p.V312V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000														28			12		0	0	0.00244969	0	0
ZNF582	147948	broad.mit.edu	37	19	56896082	56896082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56896082G>A	uc002qmy.3	-	4	1090	c.797C>T	c.(796-798)gCc>gTc	p.A266V	ZNF582_uc002qmz.1_Missense_Mutation_p.A235V	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AGAATTGAAGGCCTTTCCACA	0.373000														49			18		0	0	0.000958276	0	0
COL16A1	1307	broad.mit.edu	37	1	32164197	32164197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:32164197G>A	uc001btk.1	-	4	642	c.277C>T	c.(277-279)Cct>Tct	p.P93S	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.P93S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	93	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGACCCCGAGGGAATACTCTT	0.572000														42			13		0	0	0.00185496	0	0
VSX2	338917	broad.mit.edu	37	14	74727351	74727351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74727351G>A	uc001xpq.3	+	4	905	c.815G>A	c.(814-816)gGg>gAg	p.G272E		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	272					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AAGCCCGAGGGGGAACGCCAG	0.612000														22			10		0	0	0.000978159	0	0
CSHL1	1444	broad.mit.edu	37	17	61987521	61987521	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61987521C>T	uc002jda.1	-	4	533	c.471_splice	c.e4+1	p.G157_splice	CSHL1_uc002jcz.1_Splice_Site_p.G134_splice|CSHL1_uc002jdb.1_Splice_Site_p.G63_splice|CSHL1_uc002jdc.1_Splice_Site_p.G74_splice|CSHL1_uc002jdd.1_Splice_Site_p.G95_splice|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	157						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCACCCTCACCCCCATCAGC	0.577000														80			18		0	0	0.000958276	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:37270690G>A	uc001caz.2	-	14	2598	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	821					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)	AGATGCCCCCGATCTTCTGGA	0.597000														104			32		0	0	0.000692331	0	0
TMEM214	54867	broad.mit.edu	37	2	27258879	27258879	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27258879C>T	uc002ria.4	+	4	789	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TMEM214_uc002rib.4_Silent_p.L182L	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	227						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAGGCCATCCTGCAAGACAA	0.522000														41			16		0	0	0.00074312	0	0
MIP	4284	broad.mit.edu	37	12	56848292	56848292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56848292G>A	uc001slh.3	-	0	144	c.106C>T	c.(106-108)Cct>Tct	p.P36S		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	36					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AGGGGTCCAGGAGCCCAGCGC	0.582000														50			22		0	0	0.00047179	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039788	36039788	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:36039788T>C	uc003jjz.2	-	4	998	c.866A>G	c.(865-867)aAg>aGg	p.K289R	UGT3A2_uc011cos.2_Missense_Mutation_p.K255R|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	289						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)			GTCCCCAAACTTGGCAATGAA	0.448000														37			11		0	0	0.00136819	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183155	200183155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200183155C>T	uc009wzi.1	+	0	500	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	155					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						TACCTGGTTTCCCTCAAGAAC	0.617000														38			43		0	0	0.000781405	0	0
SLC38A7	55238	broad.mit.edu	37	16	58701363	58701364	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:58701363_58701364GG>AA	uc002eod.1	-	11	1707_1708	c.1314_1315CC>TT	c.(1312-1317)gtcctc>gtTTtc	p.L439F	SLC38A7_uc002eoc.1_Missense_Mutation_p.S304F|SLC38A7_uc010vil.1_Missense_Mutation_p.L350F	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	439					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTGACCAAGAGGACTCCGTAGC	0.535000														39			11		0	0	6.4e-05	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003225	23003225	+	Missense_Mutation	SNP	G	A	A	rs115978162	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:23003225G>A	uc003xcz.1	-	4	784	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	231					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTTCCGACATGAAAAGCCAAC	0.512000														20			15		0	0	0.000308642	0	0
SHOX2	6474	broad.mit.edu	37	3	157816015	157816015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:157816015G>A	uc003fbs.3	-	5	1008	c.869C>T	c.(868-870)cCg>cTg	p.P290L	SHOX2_uc003fbr.3_Missense_Mutation_p.P266L|SHOX2_uc010hvw.3_Missense_Mutation_p.P254L	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	266					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGCCAGGTGCGGATGCAGGTG	0.672000														63			36		0	0	0.00283554	0	0
RSPH10B	222967	broad.mit.edu	37	7	5983093	5983093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:5983093G>A	uc021zze.1	-	5	760	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	RSPH10B_uc003spg.1_Silent_p.F387F|RSPH10B_uc003sph.1_Silent_p.F540F|RSPH10B_uc010ktd.1_Silent_p.F540F|RSPH10B_uc011jwk.2_Silent_p.F241F			B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B2 (Chlamydomonas) (RSPH10B2), mRNA.	514										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTTGCTCACGGAATAAATTGC	0.388000														97			10		0	0	0.00188189	0	0
DUSP10	11221	broad.mit.edu	37	1	221913007	221913008	+	Missense_Mutation	DNP	AA	CC	CC			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:221913007_221913008AA>CC	uc001hmy.2	-	1	316_317	c.79_80TT>GG	c.(79-81)tta>GGa	p.L27G	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	27					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ACTAGAGTCTAAACAAAGGTTG	0.540000														148			31		0	0	6.4e-05	0	0
RABL3	285282	broad.mit.edu	37	3	120449619	120449619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:120449619G>A	uc003edx.3	-	1	92	c.62C>T	c.(61-63)tCg>tTg	p.S21L		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	21	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ATGGACTAACGAAGATTTCCC	0.398000														50			12		0	0	0.00244969	0	0
NLRP4	147945	broad.mit.edu	37	19	56370415	56370415	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56370415G>A	uc002qmd.4	+	2	2078	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	NLRP4_uc002qmf.3_Silent_p.A477A|NLRP4_uc010etf.3_Silent_p.A383A	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	552							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)		ATTCCTTGGCGATATTTTACT	0.473000														36			46		0	0	0.00222228	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110192	151110192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:151110192C>T	uc001ewv.3	-	9	1087	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	SEMA6C_uc001ewu.3_Missense_Mutation_p.G251R|SEMA6C_uc001eww.3_Missense_Mutation_p.G211R|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	251	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTACCCTCCCCAGCCGAGCA	0.572000														92			41		0	0	0.000781405	0	0
OR5P2	120065	broad.mit.edu	37	11	7817964	7817964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:7817964C>T	uc001mfp.1	-	0	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGCGAAATCACAGAAAAAA	0.388000														17			6		0	0	0.00116845	0	0
DNAH11	8701	broad.mit.edu	37	7	21920455	21920455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:21920455G>A	uc003svc.3	+	75	12383	c.12352G>A	c.(12352-12354)Gga>Aga	p.G4118R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4118	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTAATCCTGGAGACCTCAC	0.468000									Kartagener syndrome					59			14		0	0	0.000308642	0	0
YSK4	80122	broad.mit.edu	37	2	135745570	135745570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:135745570G>A	uc002tue.1	-	6	903	c.872C>T	c.(871-873)tCt>tTt	p.S291F	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S178F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.S19F|YSK4_uc002tui.4_Missense_Mutation_p.S308F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	291							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTAGGAAAAGAGCACATGTT	0.443000														108			25		0	0	0.00106085	0	0
DCTN4	51164	broad.mit.edu	37	5	150102495	150102495	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150102495G>A	uc010jhi.3	-	9	1005	c.903C>T	c.(901-903)atC>atT	p.I301I	DCTN4_uc003lsu.3_Silent_p.I237I|DCTN4_uc003lsv.3_Silent_p.I294I	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	294						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGAATTTGATTGACGTTG	0.338000														5			17		0	0	0.00152264	0	0
NBPF1	55672	broad.mit.edu	37	1	16907242	16907243	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16907242_16907243GG>TT	uc009vos.1	-	15	2476_2477	c.1588_1589CC>AA	c.(1588-1590)cca>AAa	p.P530K	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	530	NBPF 2.					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)		GAGGCTACCTGGGAGAATGTTT	0.421000														762			12		0	0	6.4e-05	0	0
EFHD2	79180	broad.mit.edu	37	1	15752446	15752446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:15752446C>T	uc001awh.2	+	1	465	c.388C>T	c.(388-390)Cac>Tac	p.H130Y		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	130	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCAGACCCACCTGGGCCT	0.577000														87			28		0	0	0.000878237	0	0
ROS1	6098	broad.mit.edu	37	6	117725504	117725504	+	Missense_Mutation	SNP	C	T	T	rs34245787		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:117725504C>T	uc003pxp.1	-	4	576	c.377G>A	c.(376-378)gGa>gAa	p.G126E	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.	126	Fibronectin type-III 1.		G -> V (in dbSNP:rs34245787).		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)		GTATTTTACTCCAGAGAAGTT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									20			25		0	0	0.00278032	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38483273	38483273	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38483273T>A	uc003auw.3	-	11	1263	c.1119_splice	c.e11-1	p.A373_splice	BAIAP2L2_uc003auv.3_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	373	SH3.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CAACCGCTCCTGTGGGGTAGA	0.592000														69			39		0	0	0.00222228	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766203	27766203	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:27766203G>A	uc011mjy.2	+	0	1278	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGACCAGAGGAAAATTGATA	0.393000														0			34		0	0	0.000692331	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707649	96707649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96707649G>A	uc001kka.4	+	3	620	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C9_uc009xut.3_Missense_Mutation_p.E199K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	199					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAACTTAATGGAAAAGTTGAA	0.383000														11			11		0	0	0.000673444	0	0
ITGA11	22801	broad.mit.edu	37	15	68642958	68642958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:68642958C>T	uc010bib.3	-	8	1144	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ITGA11_uc002ari.3_Missense_Mutation_p.E353K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	353					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.E353D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGCTTACCTTCCAGGCTGAAG	0.507000														13			27		0	0	0.00106085	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916919	25916919	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25916919G>A	uc011dkb.2	-	6	1007	c.924C>T	c.(922-924)atC>atT	p.I308I	SLC17A2_uc011dkc.2_Silent_p.I308I|SLC17A2_uc003nfl.3_Silent_p.I308I			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	308					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						TCACATCTCTGATGTTAACAT	0.378000														68			21		0	0	0.00047179	0	0
XIRP1	165904	broad.mit.edu	37	3	39225952	39225952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39225952G>A	uc003cjk.2	-	1	5214	c.4985C>T	c.(4984-4986)tCc>tTc	p.S1662F	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S345F|XIRP1_uc021wvz.1_Missense_Mutation_p.S1662F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1662							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)		ATCTCGGCTGGAAGGTAAAAC	0.542000														99			32		0	0	0.00283554	0	0
LYNX1	66004	broad.mit.edu	37	8	143857012	143857012	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143857012G>A	uc003yxc.1	-	3	424	c.154_splice	c.e3+1	p.Y52_splice	LYNX1_uc003yxb.3_Splice_Site_p.S52_splice|LYNX1_uc003yxd.1_Splice_Site_p.Y52_splice|LYNX1_uc003yxe.1_Splice_Site_p.Y52_splice	NM_177476	NP_803430	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 4, mRNA.	53	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGACTCACAGGTGCGCGTGG	0.662000														5			8		0	0	0.000157383	0	0
SGK223	157285	broad.mit.edu	37	8	8234125	8234125	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:8234125C>T	uc003wsh.4	-	1	1794	c.1794G>A	c.(1792-1794)cgG>cgA	p.R598R		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	598							ATP binding|non-membrane spanning protein tyrosine kinase activity										CACCGTTGGTCCGGCAGGAAG	0.662000														16			40		0	0	0.000781405	0	0
CACNA1B	774	broad.mit.edu	37	9	140943685	140943685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140943685C>T	uc004cog.3	+	23	3773	c.3628C>T	c.(3628-3630)Cac>Tac	p.H1210Y	CACNA1B_uc022bqn.1_Missense_Mutation_p.H1210Y|CACNA1B_uc011mfd.2_Missense_Mutation_p.H811Y|CACNA1B_uc004coi.3_Missense_Mutation_p.H420Y	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1210					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTGCTGCTTCACCCTGGAGC	0.527000														76			17		0	0	0.00278032	0	0
SSH3	54961	broad.mit.edu	37	11	67077398	67077398	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:67077398C>T	uc001okj.3	+	11	1546	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.F310F	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	456	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACCCTGGCTTCCTGCGCCAGC	0.662000														21			18		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179597365	179597365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597365C>T	uc021vsy.1	-	52	12916	c.12691G>A	c.(12691-12693)Gga>Aga	p.G4231R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G892R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5158							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)			GGAGTAGATCCTTGGAAAGTG	0.463000														15			4		0	0	0.00024832	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881844	30881844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30881844G>A	uc001rji.1	-	7	2271	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P304L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P507L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P507L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P507L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P174L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	507					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGCTTCTTTGGATCTTGTTC	0.453000														30			47		0	0	0.0025221	0	0
RYR1	6261	broad.mit.edu	37	19	39062679	39062679	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39062679G>A	uc002oit.3	+	94	13897	c.13767G>A	c.(13765-13767)ggG>ggA	p.G4589G	RYR1_uc002oiu.3_Silent_p.G4584G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4589					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)	CTCCACCAGGGGAGGACGACA	0.607000														79			24		0	0	0.00127121	0	0
ATP1A2	477	broad.mit.edu	37	1	160105660	160105660	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160105660C>T	uc001fvc.3	+	16	2448	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	ATP1A2_uc001fvb.2_Silent_p.S772S|ATP1A2_uc001fvd.3_Silent_p.S508S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	772					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)			TGAAGAAATCCATCGCCTACA	0.567000														100			24		0	0	0.00047179	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048908	43048908	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:43048908C>T	uc003xpx.4	+	13	1434	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	490					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGTACTTTACCACACCGAGG	0.463000														29			17		0	0	0.000958276	0	0
RUFY4	285180	broad.mit.edu	37	2	218953976	218953976	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:218953976G>A	uc010fvl.2	+	12	2021	c.1503_splice	c.e12-1	p.Q501_splice	RUFY4_uc002vgw.3_Splice_Site_p.Q328_splice	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	501							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCCATCAGAGAGAAGGACCG	0.537000														21			6		0	0	0.00198382	0	0
UNC5B	219699	broad.mit.edu	37	10	73046512	73046512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:73046512G>A	uc001jro.3	+	4	1070	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UNC5B_uc001jrp.3_Missense_Mutation_p.D207N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	207	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				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						GCTCACCATCGACCACAACCT	0.612000														53			47		0	0	0.000781405	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689680	88689680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:88689680C>T	uc010voz.2	+	10	1993	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ZC3H18_uc002fky.3_Missense_Mutation_p.S574F|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	574	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTCGCGATCCCGGTCTTCA	0.662000														27			8		0	0	0.000442599	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121734	38121734	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38121734C>T	uc003atr.3	+	6	3442	c.3171C>T	c.(3169-3171)ccC>ccT	p.P1057P	TRIOBP_uc003atu.3_Silent_p.P885P|TRIOBP_uc003atq.1_Silent_p.P1057P|TRIOBP_uc003ats.1_Silent_p.P885P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1057					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)					ACGAGCCTCCCTATATACCAC	0.657000														172			22		0	0	0.00278032	0	0
C9orf84	158401	broad.mit.edu	37	9	114464453	114464453	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114464453C>T	uc004bfr.3	-	20	2964	c.2829G>A	c.(2827-2829)ctG>ctA	p.L943L	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.L904L|C9orf84_uc010mug.3_Silent_p.L854L	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	943										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATAATGCCATCAGCCTCATAA	0.284000														35			17		0	0	0.000566183	0	0
LRP1B	53353	broad.mit.edu	37	2	141032145	141032145	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:141032145C>T	uc002tvj.1	-	84	13962	c.12990G>A	c.(12988-12990)gtG>gtA	p.V4330V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4330	EGF-like 13.				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)		ATTCAGAATTCACACAATAGT	0.388000										TSP Lung(27;0.18)				13			6		0	0	0.00198382	0	0
MUC5B	727897	broad.mit.edu	37	11	1156224	1156224	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1156224G>A	uc021qbr.1	+	4	596	c.549G>A	c.(547-549)ctG>ctA	p.L183L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	179	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)		AGGCCAGGCTGGGCCTTGTCC	0.662000														23			15		0	0	0.000422831	0	0
VPS13D	55187	broad.mit.edu	37	1	12401849	12401849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12401849C>T	uc001atv.3	+	40	8780	c.8639C>T	c.(8638-8640)aCc>aTc	p.T2880I	VPS13D_uc001atw.3_Missense_Mutation_p.T2855I|VPS13D_uc001atx.3_Missense_Mutation_p.T2067I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2879					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGGTGAAAACCCCCAAGCGC	0.572000														125			29		0	0	0.00283554	0	0
BEND3	57673	broad.mit.edu	37	6	107390646	107390646	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:107390646G>A	uc003prs.2	-	4	2399	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	583	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAAGAGCTCGGGGAACAGGT	0.632000														32			25		0	0	0.00106085	0	0
IL18R1	8809	broad.mit.edu	37	2	103010956	103010956	+	Missense_Mutation	SNP	C	T	T	rs141625347		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:103010956C>T	uc002tbw.4	+	9	1289	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F	IL18R1_uc010ywd.2_Missense_Mutation_p.S224F|IL18R1_uc010fiy.3_Missense_Mutation_p.S380F|IL18R1_uc010ywc.2_Missense_Mutation_p.S379F	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	380	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						GCTTTTGTGTCTTACCTAAAA	0.358000														48			20		0	0	0.00121646	0	0
RNASE9	390443	broad.mit.edu	37	14	21025085	21025085	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21025085C>T	uc010ahp.3	-	4	414	c.159G>A	c.(157-159)ttG>ttA	p.L53L	RNASE9_uc010aho.3_Silent_p.L48L|RNASE9_uc001vxq.4_Silent_p.L53L|RNASE9_uc010ahq.3_Silent_p.L53L|RNASE9_uc010ahr.3_Silent_p.L53L|RNASE9_uc010ahs.3_Silent_p.L48L|RNASE9_uc010aht.3_Silent_p.L48L|RNASE9_uc010ahu.3_Silent_p.L48L|RNASE9_uc021rnt.1_Silent_p.L48L	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	48						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AAAATTTTTCCAAACACTCTT	0.408000														20			32		0	0	0.00178596	0	0
PNPLA7	375775	broad.mit.edu	37	9	140400467	140400467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140400467C>T	uc010ncj.1	-	12	1631	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.D407N	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	407				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.D407N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTGCTCGTCCGAGTGCAGG	0.652000														19			14		0	0	0.00074312	0	0
GPR158	57512	broad.mit.edu	37	10	25885576	25885576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:25885576C>T	uc001isj.3	+	9	2063	c.2003C>T	c.(2002-2004)tCa>tTa	p.S668L	GPR158_uc001isk.3_Missense_Mutation_p.S43L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	668						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						TTTCAGTTTTCACATTCAAGC	0.373000														9			8		0	0	0.000157383	0	0
MYO5B	4645	broad.mit.edu	37	18	47455914	47455914	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47455914C>T	uc002leb.2	-	16	2346	c.2058G>A	c.(2056-2058)acG>acA	p.T686T		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	686	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.E685Q(1)		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)		TGATTCGAATCGTCTCCAACA	0.537000														39			9		0	0	0.00136819	0	0
HYDIN	54768	broad.mit.edu	37	16	70841794	70841794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:70841794C>T	uc002ezr.3	-	85	15203	c.15052G>A	c.(15052-15054)Gga>Aga	p.G5018R	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.	5019										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)				AGAGCCATTCCAAAGAGGGGG	0.537000														58			22		0	0	0.000586117	0	0
MYLK	4638	broad.mit.edu	37	3	123444892	123444892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:123444892G>A	uc003ego.3	-	11	1832	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MYLK_uc011bjw.2_Missense_Mutation_p.S517F|MYLK_uc003egp.3_Missense_Mutation_p.S448F|MYLK_uc003egq.3_Missense_Mutation_p.S517F|MYLK_uc003egr.3_Missense_Mutation_p.S448F|MYLK_uc003egs.3_Missense_Mutation_p.S341F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	517	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGACACTGGAGAAGGAGGG	0.597000														20			10		0	0	0.000978159	0	0
LOC646498	646498	broad.mit.edu	37	3	49215944	49215944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49215944T>C	uc021wxt.1	-	2	256	c.169A>G	c.(169-171)Aag>Gag	p.K57E		NM_001080528	NP_001073997			Homo sapiens uncharacterized LOC646498 (LOC646498), mRNA.																BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		TTGTCGTGCTTGGAGAAGAAG	0.517000														41			12		0	0	0.000422831	0	0
RPE65	6121	broad.mit.edu	37	1	68896760	68896760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:68896760C>T	uc001dei.1	-	12	1492	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	480					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.E480Q(2)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCATCTTCTTCCAAGGCATCT	0.398000														22			21		0	0	0.00188189	0	0
OSBP2	23762	broad.mit.edu	37	22	31286766	31286766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31286766G>A	uc003aiy.1	+	7	1779	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	OSBP2_uc011ala.1_Missense_Mutation_p.E393K|OSBP2_uc010gwc.1_Missense_Mutation_p.E386K|OSBP2_uc011alb.1_Missense_Mutation_p.E510K|OSBP2_uc003aiz.1_Missense_Mutation_p.E558K|OSBP2_uc003aja.1_Missense_Mutation_p.E192K|OSBP2_uc011alc.2_Missense_Mutation_p.E301K|OSBP2_uc011ald.1_Missense_Mutation_p.E103K|OSBP2_uc010gwd.1_Missense_Mutation_p.E104K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	559					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAGGACCTGGAGTACCACCA	0.627000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			9		0	0	0.000978159	0	0
SF3B1	23451	broad.mit.edu	37	2	198270043	198270043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:198270043G>A	uc002uue.3	-	9	1441	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	465	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTAAAAATGGAAGATTTCCA	0.338000			Mis		myelodysplastic syndrome									56			9		0	0	0.000442599	0	0
OR4M1	441670	broad.mit.edu	37	14	20248664	20248664	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20248664C>T	uc010tku.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	61					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)		CTATGTATTTCCTGTTGGCTA	0.393000														132			38		0	0	0.00128727	0	0
MUC5B	727897	broad.mit.edu	37	11	1156647	1156647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1156647G>A	uc021qbr.1	+	5	711	c.664G>A	c.(664-666)Gag>Aag	p.E222K				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	218	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)		CGTGGTCAGCGAGCTCCTCTC	0.607000														26			23		0	0	0.00047179	0	0
AAAS	8086	broad.mit.edu	37	12	53708084	53708084	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:53708084G>A	uc001scr.4	-	6	850	c.687C>T	c.(685-687)acC>acT	p.T229T	AAAS_uc001scs.4_Silent_p.T196T	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	229					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGACTTACCGGGTAGACAAGG	0.562000														108			44		0	0	0.000781405	0	0
GJA8	2703	broad.mit.edu	37	1	147380328	147380328	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147380328C>T	uc021ovm.1	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I	GJA8_uc001epu.2_Silent_p.I82I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	82					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCTGCAGATCATCTTCGTCT	0.627000														81			16		0	0	0.000958276	0	0
SCN1A	6323	broad.mit.edu	37	2	166848472	166848472	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166848472G>A	uc002udo.4	-	27	5540	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	SCN1A_uc010fpk.3_Silent_p.I1743I|SCN1A_uc021vsb.1_Silent_p.I1760I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1771						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)	GGAAGGATATGATGATGTAAC	0.458000														48			14		0	0	0.00244969	0	0
PRLHR	2834	broad.mit.edu	37	10	120353908	120353908	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:120353908G>A	uc001ldp.1	-	1	988	c.849C>T	c.(847-849)atC>atT	p.I283I	PRLHR_uc021pzm.1_Silent_p.I283I	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	283			I -> V (in dbSNP:rs1613448).		female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACACCACCACGATCACCACCA	0.692000														23			31		0	0	0.00111076	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236409	103236409	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:103236409G>A	uc002tca.3	+	0	244	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	34						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						cCCTGGCGGAGACCTTGCTGA	0.711000														7			10		0	0	0.000673444	0	0
FSHB	2488	broad.mit.edu	37	11	30255173	30255173	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:30255173G>A	uc001msl.3	+	2	285	c.216G>A	c.(214-216)aaG>aaA	p.K72K	FSHB_uc001msm.3_Silent_p.K72K|FSHB_uc001msn.3_Silent_p.K72K	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	72					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	p.K72E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTACCTTCAAGGAACTGGTAT	0.483000														14			19		0	0	0.00152264	0	0
PEG3	5178	broad.mit.edu	37	19	57328555	57328555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57328555C>T	uc002qnu.2	-	6	1606	c.1255G>A	c.(1255-1257)Ggt>Agt	p.G419S	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.G390S|PEG3_uc002qnv.2_Missense_Mutation_p.G419S|PEG3_uc002qnw.2_Missense_Mutation_p.G295S|PEG3_uc002qnx.2_Missense_Mutation_p.G293S|PEG3_uc010etr.2_Missense_Mutation_p.G419S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	419					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)		ATCTCACTACCACATTCAAAG	0.498000														127			33		0	0	0.00283554	0	0
CCDC105	126402	broad.mit.edu	37	19	15124546	15124546	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15124546G>A	uc002nae.2	+	1	732	c.633G>A	c.(631-633)agG>agA	p.R211R		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	211					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCATGAAGAGGAAAATGGAGA	0.488000														21			6		0	0	0.00198382	0	0
SP140L	93349	broad.mit.edu	37	2	231267534	231267534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231267534G>A	uc010fxm.1	+	18	1757	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R		NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	0						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGCCAAATGGGACTTAGACT	0.378000														78			16		0	0	0.000422831	0	0
NOTCH4	4855	broad.mit.edu	37	6	32189026	32189026	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32189026G>A	uc003obb.3	-	3	667	c.528C>T	c.(526-528)ccC>ccT	p.P176P	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.P176P	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	176	EGF-like 4.				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						ACTGGATCTGGGGGTATGTGG	0.612000														174			150		0	0	0.000781405	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834414	101834414	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:101834414C>T	uc003knn.3	-	0	307	c.135G>A	c.(133-135)ggG>ggA	p.G45G	SLCO6A1_uc003kno.3_Silent_p.G45G|SLCO6A1_uc003knp.3_Silent_p.G45G|SLCO6A1_uc003knq.3_Silent_p.G45G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	45						integral to membrane|plasma membrane	transporter activity	p.P44P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGTGTTTTTTCCCGGGCTTCG	0.572000														137			72		0	0	0.000781405	0	0
MCMDC2	157777	broad.mit.edu	37	8	67793138	67793138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67793138C>T	uc003xwz.4	+	7	935	c.764C>T	c.(763-765)cCa>cTa	p.P255L	MCMDC2_uc003xwv.3_Missense_Mutation_p.P255L|MCMDC2_uc011lev.2_Missense_Mutation_p.P255L|MCMDC2_uc011lew.2_Missense_Mutation_p.P186L|MCMDC2_uc011lex.2_Missense_Mutation_p.P13L|MCMDC2_uc003xwy.4_Missense_Mutation_p.P255L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	255					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ATTGGAATTCCAACCTGTGTA	0.244000														25			9		0	0	0.000442599	0	0
USP7	7874	broad.mit.edu	37	16	8988680	8988680	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:8988680G>A	uc002czl.2	-	28	3271	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	USP7_uc010uyj.1_Silent_p.I925I|USP7_uc002czk.2_Silent_p.I1008I	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	1024					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						GCAGGCTCTGGATTCGCTTCA	0.592000														90			31		0	0	0.0024448	0	0
KRT25	147183	broad.mit.edu	37	17	38911301	38911301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38911301G>A	uc002hve.3	-	0	284	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	75	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGCCAGAAAGGAGCCCCCGC	0.577000														65			38		0	0	0.00170553	0	0
MYH1	4619	broad.mit.edu	37	17	10395868	10395868	+	Silent	SNP	G	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10395868G>C	uc002gmo.3	-	39	5779	c.5685C>G	c.(5683-5685)gtC>gtG	p.V1895V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1895						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						TGGAGAGGTTGACGTTGGATT	0.473000														30			23		0	0	0.00278032	0	0
VAMP7	6845	broad.mit.edu	37	X	155171569	155171569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:155171569C>T	uc004fnr.3	+	7	795	c.617C>T	c.(616-618)tCa>tTa	p.S206L	VAMP7_uc011naa.2_Missense_Mutation_p.S167L|VAMP7_uc011nab.2_Missense_Mutation_p.S105L|VAMP7_uc004fnt.3_Missense_Mutation_p.S165L|VAMP7_uc004fns.3_Silent_p.F183F|VAMP7_uc011nac.2_Missense_Mutation_p.S139L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	206					ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCATTGTTTCACCTCTCTGT	0.353000														34			32		0	0	0.00148497	0	0
KIF21B	23046	broad.mit.edu	37	1	200946498	200946498	+	Silent	SNP	C	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200946498C>A	uc001gvs.2	-	30	4484	c.4167G>T	c.(4165-4167)tcG>tcT	p.S1389S	KIF21B_uc009wzl.2_Silent_p.S1389S|KIF21B_uc001gvr.2_Silent_p.S1376S|KIF21B_uc010ppn.2_Silent_p.S1376S	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1389					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						TCACCTGGCCCGAGGACCTGC	0.562000														121			6		0.00198382	0.00716019	0.00198382	1	0
SEL1L3	23231	broad.mit.edu	37	4	25783914	25783914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:25783914C>T	uc003gru.4	-	14	2559	c.2407G>A	c.(2407-2409)Gga>Aga	p.G803R	SEL1L3_uc003grv.3_Missense_Mutation_p.G210R	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	803						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCAGGACTCCAAGATTGTAT	0.448000														74			21		0	0	0.000586117	0	0
COL6A3	1293	broad.mit.edu	37	2	238253147	238253148	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:238253147_238253148CC>TT	uc002vwl.2	-	35	7798_7799	c.7513_7514GG>AA	c.(7513-7515)gga>AAa	p.G2505K	COL6A3_uc002vwo.2_Missense_Mutation_p.G2299K|COL6A3_uc010znj.1_Missense_Mutation_p.G1898K|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.G326K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2505	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATTAGGAATCCGTTCCTCACA	0.510000														70			67		0	0	6.4e-05	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652699	121652699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:121652699C>T	uc003vjy.3	+	11	3994	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1200					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTCTTCCAGCTGTGCCC	0.378000														82			108		0	0	0.000781405	0	0
CNGA1	1259	broad.mit.edu	37	4	47939467	47939467	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:47939467T>A	uc003gxu.3	-	9	1392	c.1251A>T	c.(1249-1251)aaA>aaT	p.K417N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.K348N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	348					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						TGTATACGTATTTTCTAGCCA	0.413000														76			44		0	0	0.00285205	0	0
NF1	4763	broad.mit.edu	37	17	29654712	29654712	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:29654712C>T	uc002hgg.3	+	37	5847	c.5464C>T	c.(5464-5466)Cag>Tag	p.Q1822*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1801*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q834*|NF1_uc010cso.3_Nonsense_Mutation_p.Q10*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1822					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCCATTGTCCAGTCTATCAT	0.522000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				57			48		0	0	0.000781405	0	0
PRSS36	146547	broad.mit.edu	37	16	31157129	31157129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31157129C>T	uc002ebd.3	-	5	760	c.701G>A	c.(700-702)gGc>gAc	p.G234D	PRSS36_uc010vff.2_Missense_Mutation_p.G9D|PRSS36_uc010vfg.2_Missense_Mutation_p.G234D|PRSS36_uc010vfh.2_Missense_Mutation_p.G234D	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	234	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTCCCTGCGGCCCTCTGGGTA	0.607000														37			44		0	0	0.000680045	0	0
C5AR1	728	broad.mit.edu	37	19	47823499	47823499	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47823499C>T	uc002pgj.1	+	1	514	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	155					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)		TGGCCTGGATCGCCTGTGCCG	0.607000														115			25		0	0	0.001512	0	0
ZNF606	80095	broad.mit.edu	37	19	58490821	58490821	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58490821G>A	uc002qqw.3	-	6	1845	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	ZNF606_uc010yhp.2_Silent_p.F319F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGCTCCAGATGAAAGACGTCC	0.393000														57			28		0	0	0.000878237	0	0
BPIFB3	359710	broad.mit.edu	37	20	31660574	31660574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31660574C>T	uc002wym.1	+	13	1376	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	459					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ATCAATTTTTCCAATTCAGTT	0.463000														69			19		0	0	0.00047179	0	0
CYP2C19	1557	broad.mit.edu	37	10	96493179	96493179	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96493179C>T	uc001kjv.4	+	7	1601	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CYP2C19_uc001kjw.4_Silent_p.F366F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.S29L	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	425					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)	GTGACTACTTCATGCCTTTCT	0.438000														13			8		0	0	0.000157383	0	0
PKP4	8502	broad.mit.edu	37	2	159481448	159481448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:159481448C>T	uc002tzv.3	+	6	922	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PKP4_uc002tzt.1_Missense_Mutation_p.S73F|PKP4_uc002tzu.3_Missense_Mutation_p.S221F|PKP4_uc002tzw.3_Missense_Mutation_p.S221F|PKP4_uc002tzx.3_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Missense_Mutation_p.S219F|PKP4_uc002uaa.3_Missense_Mutation_p.S73F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	221					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						AGAGCACAGTCTCCTTCTTAT	0.512000										HNSCC(62;0.18)				105			33		0	0	0.00111076	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219284	24219284	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24219284C>T	uc011ajc.1	+	4	973	c.483C>T	c.(481-483)ctC>ctT	p.L161L	SLC2A11_uc002zyl.1_Silent_p.L161L|SLC2A11_uc002zym.4_Silent_p.L161L|SLC2A11_uc002zyn.4_Silent_p.L154L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L148L|SLC2A11_uc002zyp.4_Silent_p.L157L			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	154						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTAAGGAGCTCCGAGGAGCTG	0.617000														19			65		0	0	0.000781405	0	0
CSF1	1435	broad.mit.edu	37	1	110465890	110465890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:110465890C>T	uc001dyu.2	+	5	1060	c.647C>T	c.(646-648)gCc>gTc	p.A216V	CSF1_uc001dyt.2_Missense_Mutation_p.A216V|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.A216V|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	216					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			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)		CCCTCCATGGCCCCTGTGGCT	0.642000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			70		0	0	0.000781405	0	0
ZNF598	90850	broad.mit.edu	37	16	2049661	2049661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2049661G>A	uc002cof.1	-	10	1904	c.1889C>T	c.(1888-1890)gCc>gTc	p.A630V	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	630	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AACGACGACGGCAACTGGCCC	0.706000														25			13		0	0	0.00185496	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825584	31825584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31825584G>A	uc002wyt.4	+	1	137	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	BPIFA1_uc002wyu.4_Missense_Mutation_p.G23S|BPIFA1_uc002wyv.3_Missense_Mutation_p.G23S	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	23					innate immune response	extracellular region	lipid binding										CCAGTTTGGAGGCCTGCCCGT	0.547000														64			17		0	0	0.00074312	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939698	12939698	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12939698T>G	uc001aun.2	-	3	1175	c.1104A>C	c.(1102-1104)caA>caC	p.Q368H		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	368										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGTTGACTTGGGAGTCTA	0.507000														510			131		0	0	0.000781405	0	0
CAPN10	11132	broad.mit.edu	37	2	241528788	241528788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241528788C>T	uc002vzk.2	+	1	366	c.170C>T	c.(169-171)cCa>cTa	p.P57L	CAPN10_uc010zoh.2_Missense_Mutation_p.P57L|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.P57L|CAPN10_uc002vzn.2_5'UTR|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Missense_Mutation_p.P57L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	57	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CGGCTGTTTCCAGATGACCCA	0.577000														166			37		0	0	0.00148497	0	0
CRYZ	1429	broad.mit.edu	37	1	75188903	75188903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75188903G>A	uc001dgk.3	-	3	668	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	CRYZ_uc001dgj.3_Missense_Mutation_p.R55C|CRYZ_uc001dgl.3_Missense_Mutation_p.R55C|CRYZ_uc001dgm.3_5'UTR	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	55					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	GTACCAGAGCGAATGTATGTC	0.423000														49			48		0	0	0.000781405	0	0
ZFP106	64397	broad.mit.edu	37	15	42743985	42743985	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42743985A>C	uc001zpw.3	-	1	743	c.416T>G	c.(415-417)tTt>tGt	p.F139C	ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Missense_Mutation_p.F162C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	139						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGTATTATTAAAGCCATCTTT	0.493000														37			24		0	0	0.00229938	0	0
NFATC4	4776	broad.mit.edu	37	14	24839499	24839499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24839499C>T	uc001wpc.3	+	1	1216	c.895C>T	c.(895-897)Cca>Tca	p.P299S	NFATC4_uc010alr.3_Missense_Mutation_p.P362S|NFATC4_uc010tok.2_Missense_Mutation_p.P362S|NFATC4_uc010tol.2_Missense_Mutation_p.P362S|NFATC4_uc010als.2_Missense_Mutation_p.P312S|NFATC4_uc010too.2_Missense_Mutation_p.P312S|NFATC4_uc010tom.2_Missense_Mutation_p.P312S|NFATC4_uc010ton.2_Missense_Mutation_p.P312S|NFATC4_uc010toq.2_Missense_Mutation_p.P331S|NFATC4_uc010alt.3_Missense_Mutation_p.P331S|NFATC4_uc010top.2_Missense_Mutation_p.P331S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P299S|NFATC4_uc010tos.2_Missense_Mutation_p.P229S|NFATC4_uc010tot.2_Missense_Mutation_p.P287S|NFATC4_uc010tou.2_Missense_Mutation_p.P229S|NFATC4_uc010tov.2_Missense_Mutation_p.P287S|NFATC4_uc010tow.2_Missense_Mutation_p.P229S|NFATC4_uc010alv.3_Missense_Mutation_p.P287S|NFATC4_uc010tox.2_Missense_Mutation_p.P229S|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	299	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)		TGAGCCACCTCCACCACCCCC	0.672000														7			16		0	0	0.000422831	0	0
OR2T3	343173	broad.mit.edu	37	1	248637552	248637552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248637552G>A	uc001iel.1	+	0	901	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CCGCAACAAAGATGTCACCAG	0.478000														297			17		0	0	0.00278032	0	0
OR8D2	283160	broad.mit.edu	37	11	124189886	124189886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124189886C>T	uc010sah.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGCAGAGATCAATGAAAGAC	0.413000														9			9		0	0	0.000442599	0	0
ZEB2	9839	broad.mit.edu	37	2	145158812	145158812	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:145158812G>A	uc002tvu.3	-	6	1392	c.870C>T	c.(868-870)gcC>gcT	p.A290A	ZEB2_uc010zbm.2_Silent_p.A266A|ZEB2_uc002tvv.3_Silent_p.A284A|ZEB2_uc010fnp.3_Silent_p.A198A|ZEB2_uc010fnq.1_Silent_p.A319A	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	290						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATATTTGAAGGCCTTGCCAC	0.443000														86			75		0	0	0.000781405	0	0
KCNH8	131096	broad.mit.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:19554559C>T	uc003cbk.1	+	12	2372	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	KCNH8_uc010hex.1_Missense_Mutation_p.S187F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	726						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gaggCAGTCTCCCTCTCTCCC	0.532000														11			4		0	0	0.00024832	0	0
CELSR2	1952	broad.mit.edu	37	1	109807221	109807222	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:109807221_109807222GG>TT	uc001dxa.4	+	10	5496_5497	c.5435_5436GG>TT	c.(5434-5436)tgg>tTT	p.W1812F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1812	EGF-like 5; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCAACGACTGGGACAGCTATT	0.579000														585			14		0	0	6.4e-05	0	0
FREM1	158326	broad.mit.edu	37	9	14776104	14776104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:14776104C>T	uc003zlm.3	-	25	5356	c.4540G>A	c.(4540-4542)Ggg>Agg	p.G1514R	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Missense_Mutation_p.G50R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1514					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)		AGTCTCAACCCCTTGTTCCTG	0.587000														6			24		0	0	0.000720815	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	A	A	rs150472752		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122748207G>A	uc001ucd.3	-	2	321	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000														39			18		0	0	0.000566183	0	0
BCOR	54880	broad.mit.edu	37	X	39933481	39933481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:39933481G>A	uc004den.4	-	3	1410	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	BCOR_uc004dep.4_Missense_Mutation_p.S373L|BCOR_uc004deo.4_Missense_Mutation_p.S373L|BCOR_uc004dem.4_Missense_Mutation_p.S373L|BCOR_uc004deq.4_Missense_Mutation_p.S373L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	373					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						GTATGGCTTTGACAGGGCAAC	0.602000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							2			34		0	0	0.00058488	0	0
ITGA1	3672	broad.mit.edu	37	5	52189578	52189578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52189578G>A	uc003jou.3	+	8	1411	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	333	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTGCAAGTGAACCCACTGA	0.373000														55			14		0	0	0.00244969	0	0
SCN2A	6326	broad.mit.edu	37	2	166167084	166167084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166167084G>A	uc002udc.3	+	6	1239	c.949G>A	c.(949-951)Gat>Aat	p.D317N	SCN2A_uc002udd.3_Missense_Mutation_p.D317N|SCN2A_uc002ude.3_Missense_Mutation_p.D317N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	317					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)	ATTTAACTGGGATGAATATAT	0.259000														23			5		0	0	0.000602214	0	0
EBF1	1879	broad.mit.edu	37	5	158141181	158141181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:158141181G>A	uc010jip.3	-	11	1437	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	EBF1_uc011ddw.2_Missense_Mutation_p.L247F|EBF1_uc011ddx.2_Missense_Mutation_p.L380F|EBF1_uc003lxl.4_Missense_Mutation_p.L348F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	379					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCTTTTGAGTATTACTTCC	0.488000			T	HMGA2	lipoma									124			68		0	0	0.000781405	0	0
NLRP3	114548	broad.mit.edu	37	1	247608119	247608119	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:247608119C>T	uc001icr.3	+	9	3145	c.3007C>T	c.(3007-3009)Ctg>Ttg	p.L1003L	NLRP3_uc001ics.3_Silent_p.L946L|NLRP3_uc001icu.3_Silent_p.L1003L|NLRP3_uc001icw.3_Silent_p.L946L|NLRP3_uc001icv.3_Silent_p.L889L|NLRP3_uc010pyw.2_Silent_p.L981L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	1003					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)			CCTGCAGAACCTGGGGTGAGT	0.552000														31			4		0	0	0.00024832	0	0
PKHD1	5314	broad.mit.edu	37	6	51923238	51923238	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51923238C>T	uc003pah.1	-	15	1671	c.1395G>A	c.(1393-1395)agG>agA	p.R465R	PKHD1_uc003pai.3_Silent_p.R465R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	465					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)					TCCTCATCCCCCTGCTTGGGG	0.562000														30			30		0	0	0.00283554	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054795	72054795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72054795C>T	uc001xms.3	+	1	567	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P69L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P69L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P69L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	69					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)		ACCTCAACCCCCGGAGTCCCA	0.507000														86			32		0	0	0.00209593	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163318	32163318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32163318G>A	uc003obb.3	-	29	6047	c.5908C>T	c.(5908-5910)Cct>Tct	p.P1970S	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.P630S|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1970					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						GTAAGGCAAGGAGGCGGGATC	0.617000														147			131		0	0	0.000781405	0	0
FAM179A	165186	broad.mit.edu	37	2	29226426	29226426	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:29226426G>A	uc010ezl.3	+	5	1059	c.708G>A	c.(706-708)gtG>gtA	p.V236V	FAM179A_uc010ymm.2_Silent_p.V236V	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	236							binding	p.V236M(1)		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						GCGCCATCGTGATCCCACCCA	0.642000														10			4		0	0	0.000602214	0	0
PTPRB	5787	broad.mit.edu	37	12	70954661	70954661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70954661G>A	uc001swb.4	-	14	3598	c.3568C>T	c.(3568-3570)Ctt>Ttt	p.L1190F	PTPRB_uc010sto.2_Missense_Mutation_p.L1100F|PTPRB_uc010stp.2_Missense_Mutation_p.L1100F|PTPRB_uc001swc.4_Missense_Mutation_p.L1408F|PTPRB_uc001swa.4_Missense_Mutation_p.L1320F|PTPRB_uc001swd.4_Missense_Mutation_p.L1407F|PTPRB_uc009zrr.2_Missense_Mutation_p.L1287F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1190	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGAACCAAAGGCTGTCTGTC	0.448000														55			27		0	0	0.00106085	0	0
TRIM17	51127	broad.mit.edu	37	1	228596903	228596903	+	Missense_Mutation	SNP	C	T	T	rs145945297		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228596903C>T	uc001hsu.3	-	5	1238	c.853G>A	c.(853-855)Gga>Aga	p.G285R	TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Missense_Mutation_p.G285R|TRIM17_uc009xfb.2_Missense_Mutation_p.G285R	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	285	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P284P(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TCAATCTGTCCGGGAACTCTG	0.602000														136			34		0	0	0.00128727	0	0
CCR9	10803	broad.mit.edu	37	3	45943249	45943249	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:45943249A>T	uc003coz.2	+	2	1149	c.969A>T	c.(967-969)agA>agT	p.R323S	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.R311S|CCR9_uc003cpa.2_Missense_Mutation_p.R311S|CCR9_uc021wwv.1_Missense_Mutation_p.R311S	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	323					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.R323I(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)		TGGGTGAGAGATTCCGCCGGG	0.517000														57			14		0	0	0.00185496	0	0
CASR	846	broad.mit.edu	37	3	121981042	121981042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121981042G>A	uc003eew.4	+	3	1598	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	CASR_uc003eev.4_Missense_Mutation_p.S387N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	387					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)	TTTAGCAACAGCTCGACAGCC	0.488000														49			15		0	0	0.00244969	0	0
HERC3	8916	broad.mit.edu	37	4	89628082	89628082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89628082G>A	uc003hrw.1	+	25	3290	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N	HERC3_uc011cdn.1_Missense_Mutation_p.D924N|HERC3_uc011cdo.1_Missense_Mutation_p.D486N|FAM13A-AS1_uc003hry.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	1042	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCAGGCCCTTGACAACTATGA	0.517000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			12		0	0	0.00244969	0	0
ANKAR	150709	broad.mit.edu	37	2	190585403	190585403	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:190585403A>G	uc002uqw.2	+	11	2613	c.2525A>G	c.(2524-2526)aAt>aGt	p.N842S	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	842						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GTGCTAGTAAATGTAATGAAC	0.299000														232			56		0	0	0.000781405	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115563	52115563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:52115563G>A	uc002pxe.3	-	8	1716	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	526					cell adhesion	integral to membrane	sugar binding	p.S526Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCATCTCAGAAAAACTAAG	0.552000														106			36		0	0	0.000953801	0	0
PCSK5	5125	broad.mit.edu	37	9	78601055	78601055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78601055G>A	uc004akc.2	+	2	843	c.305G>A	c.(304-306)tGg>tAg	p.W102*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.W102*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.W102*|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.	102					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						CAGGTGGAATGGATCCAACAG	0.448000														65			18		0	0	0.000958276	0	0
C14orf39	317761	broad.mit.edu	37	14	60903654	60903654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:60903654G>A	uc001xez.4	-	17	1783	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	C14orf39_uc010apo.3_Missense_Mutation_p.S269L	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	558										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)		CTGTCCAAATGAAAATGGAAA	0.338000														209			65		0	0	0.000781405	0	0
USP6	9098	broad.mit.edu	37	17	5074166	5074166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:5074166G>A	uc002gau.1	+	35	6140	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	USP6_uc002gav.1_Missense_Mutation_p.E1304K|USP6_uc010ckz.1_Missense_Mutation_p.E987K	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1304					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGACCAAAGAGAAGACACTCA	0.408000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									16			21		0	0	0.00278032	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668201	94668201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:94668201G>A	uc001dqj.4	-	10	1411	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.R348C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	348					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)		TCTTCTGCACGAAACATGGAA	0.408000														126			107		0	0	0.000781405	0	0
FAM171B	165215	broad.mit.edu	37	2	187626229	187626229	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:187626229A>T	uc002ups.3	+	7	1272	c.1160A>T	c.(1159-1161)aAa>aTa	p.K387I	FAM171B_uc002upr.1_Missense_Mutation_p.K387I|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	387						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACTCCACAGAAAAGAGAAAGA	0.333000														75			21		0	0	0.00278032	0	0
PPDPF	79144	broad.mit.edu	37	20	62152912	62152912	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62152912T>G	uc002yff.3	+	2	243	c.103T>G	c.(103-105)Tgc>Ggc	p.C35G		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA.	35					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						CAGTACCGAGTGCCCCGGGGA	0.687000														49			12		0	0	0.00136819	0	0
YIPF7	285525	broad.mit.edu	37	4	44626725	44626725	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:44626725G>A	uc021xnx.1	-	4	590	c.573C>T	c.(571-573)aaC>aaT	p.N191N		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	191						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AGCTCATCAGGTTCAGCAAGG	0.512000														15			4		0	0	0.00024832	0	0
SLIT3	6586	broad.mit.edu	37	5	168093514	168093514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168093514G>A	uc010jjg.3	-	35	4958	c.4538C>T	c.(4537-4539)tCg>tTg	p.S1513L	SLIT3_uc003mab.3_Missense_Mutation_p.S1506L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1506	CTCK.				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)			TTCTACAAACGAGGAGCCGTC	0.637000														11			11		0	0	0.000978159	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701948	96701948	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96701948G>A	uc001kka.4	+	3	357	c.332_splice	c.e3-1	p.G111_splice	CYP2C9_uc009xut.3_Splice_Site_p.G111_splice|CYP2C9_uc001kjz.3_Splice_Site_p.G111_splice	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	111					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)	CTTCCTGTTAGGAATTGTTTT	0.532000														12			14		0	0	0.00185496	0	0
SHANK2	22941	broad.mit.edu	37	11	70506017	70506017	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:70506017G>A	uc001oqc.3	-	13	1897	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	SHANK2_uc010rqn.2_Silent_p.F71F|SHANK2_uc001opz.3_Silent_p.F71F|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.F71F	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	280					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)			GTAGGGCTGGGAAAGCCGGTG	0.552000														15			18		0	0	0.000958276	0	0
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	A	A	rs150004831		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54610386G>A	uc001cwv.1	-	1	1028	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	60	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557000														22			22		0	0	0.00188189	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124180576G>A	uc010sag.2	-	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000														28			14		0	0	0.00244969	0	0
SHANK1	50944	broad.mit.edu	37	19	51217121	51217121	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51217121G>A	uc002psx.1	-	4	745	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	242					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGGCCCGGAAGTCAATGT	0.667000														44			13		0	0	0.00136819	0	0
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:45303919C>T	uc003jok.3	-	5	1425	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	467						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						CACCAGTTTCCGACAGTTGAA	0.358000														46			12		0	0	0.00185496	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826237	43826237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43826237C>T	uc010skx.2	-	20	2966	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q	ADAMTS20_uc001rno.1_Missense_Mutation_p.R143Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R143Q	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	989	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAAGATTCTCGAGACCTTTC	0.368000														56			14		0	0	0.000308642	0	0
TMEM82	388595	broad.mit.edu	37	1	16069534	16069534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16069534G>A	uc001axc.3	+	2	319	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	61	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|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;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCGACCCGAAAAGGAGCG	0.697000														85			23		0	0	0.00106085	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797056	7797056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:7797056C>T	uc001aoi.3	+	13	3536	c.3329C>T	c.(3328-3330)tCc>tTc	p.S1110F	CAMTA1_uc010nzv.1_Missense_Mutation_p.S197F|CAMTA1_uc001aok.4_Missense_Mutation_p.S153F|CAMTA1_uc001aoj.3_Missense_Mutation_p.S66F	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1110					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)		GACCACTTCTCCTGTACTCCT	0.498000			T	WWTR1	epitheliod hemangioendothelioma									38			5		0	0	0.00198382	0	0
PIAS3	10401	broad.mit.edu	37	1	145581490	145581490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145581490G>A	uc001eoc.1	+	8	1162	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	PIAS3_uc001eod.1_Missense_Mutation_p.M26I	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	357					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)					ATCTACAGATGAATGAGAAGA	0.512000														81			108		0	0	0.000781405	0	0
ZBP1	81030	broad.mit.edu	37	20	56189956	56189956	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:56189956C>T	uc002xyo.3	-	3	770	c.489G>A	c.(487-489)acG>acA	p.T163T	ZBP1_uc010gjm.3_Silent_p.T163T|ZBP1_uc002xyp.3_Silent_p.T88T|ZBP1_uc010zzn.2_Silent_p.T163T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	163						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCGGTAAATCGTCCATGCTT	0.552000														46			111		0	0	0.000781405	0	0
VPS13C	54832	broad.mit.edu	37	15	62253984	62253984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:62253984G>A	uc002agz.3	-	34	3803	c.3712C>T	c.(3712-3714)Cgt>Tgt	p.R1238C	VPS13C_uc002aha.3_Missense_Mutation_p.R1195C|VPS13C_uc002ahb.2_Missense_Mutation_p.R1238C|VPS13C_uc002ahc.2_Missense_Mutation_p.R1195C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1238					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATGGAAACACGAAAACTCCTC	0.458000														43			19		0	0	0.00074312	0	0
FAM69A	388650	broad.mit.edu	37	1	93316481	93316481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:93316481C>T	uc001dpg.3	-	2	314	c.221G>A	c.(220-222)gGg>gAg	p.G74E	FAM69A_uc001dpc.3_Missense_Mutation_p.G74E|FAM69A_uc010otg.2_Missense_Mutation_p.G67E|FAM69A_uc021opu.1_Missense_Mutation_p.G49E|FAM69A_uc021opv.1_Missense_Mutation_p.G29E|FAM69A_uc021opw.1_Missense_Mutation_p.G74E	NM_001006605	NP_001006606	Q5T7M9	FA69A_HUMAN	Homo sapiens family with sequence similarity 69, member A (FAM69A), transcript variant 1, mRNA.	74						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACATGCAGGCCCATCAATAAC	0.338000														27			5		0	0	0.00116845	0	0
ARSE	415	broad.mit.edu	37	X	2867429	2867429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:2867429C>T	uc011mhh.2	-	6	1306	c.845G>A	c.(844-846)aGa>aAa	p.R282K	ARSE_uc011mhi.2_Missense_Mutation_p.R203K|ARSE_uc004crc.4_Missense_Mutation_p.R257K			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	257					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGTTTCTCATCAGAAA	0.532000														3			42		0	0	0.00222228	0	0
KIF26B	55083	broad.mit.edu	37	1	245530267	245530267	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:245530267C>T	uc001ibf.1	+	2	1037	c.597C>T	c.(595-597)atC>atT	p.I199I	KIF26B_uc010pyq.1_Silent_p.I199I|KIF26B_uc010pyr.2_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	199					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)			AGGAGGCCATCCAGATGGTGC	0.632000														27			14		0	0	0.000308642	0	0
FOS	2353	broad.mit.edu	37	14	75747346	75747346	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:75747346G>A	uc001xrn.3	+	2	682	c.477G>A	c.(475-477)agG>agA	p.R159R	FOS_uc010tva.2_Intron|FOS_uc010asi.3_Silent_p.R45R	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	159					DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		ACCGGAGGAGGGAGCTGACTG	0.453000														36			9		0	0	0.000442599	0	0
LAMC3	10319	broad.mit.edu	37	9	133962954	133962954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133962954C>T	uc004caa.1	+	25	4420	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	LAMC3_uc010mze.1_Missense_Mutation_p.S129F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1441	Domain II and I.				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)		CAACAGGCGTCCCAGCAGGTG	0.657000														56			14		0	0	0.00244969	0	0
ATG2A	23130	broad.mit.edu	37	11	64681835	64681835	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:64681835G>A	uc001obx.3	-	1	424	c.309C>T	c.(307-309)ctC>ctT	p.L103L	ATG2A_uc010rnt.1_Silent_p.L103L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	103							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						GCTGCAAGGTGAGCTGGAGGC	0.711000														5			6		0	0	0.00198382	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275995	130275995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:130275995G>A	uc001qgg.4	-	8	2486	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S	ADAMTS8_uc001qgf.3_Missense_Mutation_p.P191S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	710	Spacer.				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)		GCACCAGCTGGGATGGTGACA	0.552000														28			23		0	0	0.00278032	0	0
ASMT	438	broad.mit.edu	37	X	1752114	1752115	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:1752114_1752115CC>AA	uc004cqd.3	+	7	934_935	c.718_719CC>AA	c.(718-720)cca>AAa	p.P240K	ASMT_uc010ncy.3_Missense_Mutation_p.P240K|ASMT_uc004cqe.3_Intron	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	212					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGACATCCCAGAAGTGGTG	0.530000														305			11		0	0	6.4e-05	0	0
C6orf221	154288	broad.mit.edu	37	6	74073307	74073307	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:74073307C>T	uc003pgt.4	+	2	431	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	126										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CCCAGGATGTCGCCACTCAGA	0.617000														16			17		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	14	106899310	106899310	+	RNA	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106899310C>T	uc021ser.1	-	374		c.12318G>A								Parts of antibodies, mostly variable regions.																		ACCAAGCCTCCCCCAGACTCC	0.562000														67			20		0	0	0.00229938	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49368804	49368804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49368804C>T	uc002pkx.3	-	2	699	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PLEKHA4_uc010eml.3_Missense_Mutation_p.D50N	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.	50						cytoplasm|membrane	1-phosphatidylinositol binding			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)		AGGTTGGGATCCCTCCTGAGC	0.577000														30			21		0	0	0.000720815	0	0
PKD2	5311	broad.mit.edu	37	4	88973229	88973229	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:88973229C>T	uc003hre.3	+	6	1722	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	545						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AAAATACTTTCCCCAACTTTG	0.353000														24			47		0	0	0.000781405	0	0
SZT2	23334	broad.mit.edu	37	1	43908610	43908610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43908610C>T	uc001cjk.2	+	57	8185	c.5575C>T	c.(5575-5577)Ccc>Tcc	p.P1859S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2758						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGTCCTCTTCCCCTGGACAC	0.642000														31			33		0	0	0.0024448	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80266638	80266638	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80266638G>A	uc001syz.3	-	1	585	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PPP1R12A_uc010suc.2_Silent_p.G19G|PPP1R12A_uc001sza.3_Silent_p.G106G|PPP1R12A_uc010sud.2_Silent_p.G106G|PPP1R12A_uc001szb.3_Silent_p.G106G|PPP1R12A_uc001szc.2_Silent_p.G106G	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	106						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTGGTATCCAGCCTTCATTAT	0.368000														50			16		0	0	0.000422831	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9561263C>T	uc002wnl.2	-	4	1064	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_uc002wnk.2_Missense_Mutation_p.M173I|PAK7_uc002wnj.2_Missense_Mutation_p.M173I|PAK7_uc010gby.1_Missense_Mutation_p.M173I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	173	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)			GCTTCATTTTCATTACGTGCC	0.463000														83			43		0	0	0.000680045	0	0
APBA1	320	broad.mit.edu	37	9	72067079	72067079	+	Missense_Mutation	SNP	C	T	T	rs140108483		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:72067079C>T	uc004ahh.2	-	8	2203	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	643	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATCAGGTCATCGTTGTACATG	0.517000														106			53		0	0	0.000781405	0	0
RNF17	56163	broad.mit.edu	37	13	25439062	25439062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25439062G>A	uc001upr.3	+	28	4068	c.4027G>A	c.(4027-4029)Gga>Aga	p.G1343R	RNF17_uc010tde.2_Missense_Mutation_p.G1339R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G1282R|RNF17_uc010aac.3_Missense_Mutation_p.G535R|RNF17_uc010aad.3_Intron	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1343					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTATTTTGATGGAATGTCACT	0.289000														34			40		0	0	0.00170553	0	0
NPY2R	4887	broad.mit.edu	37	4	156136174	156136174	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156136174G>A	uc003ioq.3	+	1	1572	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	NPY2R_uc003ior.3_Silent_p.K361K|NPY2R_uc021xtm.1_Silent_p.K361K	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	361					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.K361T(1)|p.K361R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGCTAAAAAGAACCTGGAGG	0.483000														59			20		0	0	0.00188189	0	0
DSE	29940	broad.mit.edu	37	6	116757438	116757438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:116757438C>T	uc011ebg.2	+	5	1963	c.1864C>T	c.(1864-1866)Cat>Tat	p.H622Y	DSE_uc003pws.3_Missense_Mutation_p.H603Y|DSE_uc003pwt.3_Missense_Mutation_p.H603Y|DSE_uc003pwu.3_Missense_Mutation_p.H270Y	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	603					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.H603Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGATGGTGTCCATGGGGCTTT	0.488000														14			16		0	0	0.000422831	0	0
KCTD3	51133	broad.mit.edu	37	1	215793804	215793804	+	Silent	SNP	C	T	T	rs149998746	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:215793804C>T	uc001hks.3	+	17	2586	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	KCTD3_uc001hkt.3_Silent_p.F762F|KCTD3_uc010pub.2_Silent_p.F662F|KCTD3_uc009xdn.3_Silent_p.F488F	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	764						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)		GGGGAGGATTCCTTGGAAGAA	0.423000														64			10		0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13727654	13727654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13727654G>A	uc003jfd.2	-	69	12037	c.11995C>T	c.(11995-11997)Ctt>Ttt	p.L3999F	DNAH5_uc003jfc.2_Missense_Mutation_p.L167F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3999					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)					GATCTAATAAGGAGAAGACGT	0.363000									Kartagener syndrome					19			23		0	0	0.00127121	0	0
PROCR	10544	broad.mit.edu	37	20	33764091	33764091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:33764091C>T	uc002xbt.3	+	2	627	c.443C>T	c.(442-444)gCc>gTc	p.A148V	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	148					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCGGAGAGAGCCTTGTGGCAG	0.592000														36			64		0	0	0.000781405	0	0
SON	6651	broad.mit.edu	37	21	34927484	34927484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:34927484C>T	uc002yse.1	+	2	5996	c.5947C>T	c.(5947-5949)Cgc>Tgc	p.R1983C	SON_uc002ysb.1_Missense_Mutation_p.R1983C|SON_uc002ysc.3_Missense_Mutation_p.R1983C|SON_uc002ysd.3_Missense_Mutation_p.R974C|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R974C	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1983	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				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						cacccccagccgccggagccg	0.711000														21			11		0	0	0.000673444	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909297	24909297	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:24909297G>A	uc002dmu.3	+	9	1104	c.873G>A	c.(871-873)gtG>gtA	p.V291V	SLC5A11_uc002dms.3_Silent_p.V227V|SLC5A11_uc010vcd.2_Silent_p.V256V|SLC5A11_uc002dmt.3_Missense_Mutation_p.D159N|SLC5A11_uc010vce.2_Silent_p.V221V|SLC5A11_uc010bxt.3_Silent_p.V227V	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	291					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)		TTTTCCAGGTGATTGTCCAGC	0.502000														132			50		0	0	0.000781405	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318758	30318758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:30318758G>A	uc009xle.2	-	2	456	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	KIAA1462_uc001iux.3_Missense_Mutation_p.P107S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	107										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						CCAGTCGGGGGATGAGAGGAC	0.532000														20			13		0	0	0.00136819	0	0
OR6C75	390323	broad.mit.edu	37	12	55759806	55759806	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55759806G>A	uc010spk.2	+	0	912	c.912G>A	c.(910-912)caG>caA	p.Q304Q		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GCATGGTCCAGAAGATGATTT	0.388000														36			8		0	0	0.000442599	0	0
KCNK5	8645	broad.mit.edu	37	6	39158950	39158950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:39158950C>T	uc003oon.3	-	4	1580	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	406					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCCTGGGCGTCCCATGGCTCG	0.627000														41			16		0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9085456	9085456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9085456G>A	uc002mkp.3	-	0	6563	c.6359C>T	c.(6358-6360)aCt>aTt	p.T2120I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2120	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						AGTGTTCAAAGTACTCGCGGC	0.488000														72			83		0	0	0.000781405	0	0
MYH6	4624	broad.mit.edu	37	14	23855828	23855828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23855828G>A	uc001wjv.3	-	32	4726	c.4655C>T	c.(4654-4656)tCc>tTc	p.S1552F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1552					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTGCTCCAGGGAGGCCTGGGA	0.632000														63			24		0	0	0.00229938	0	0
SCN11A	11280	broad.mit.edu	37	3	38966958	38966958	+	Silent	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38966958G>A	uc021wvy.1	-	4	859	c.660C>T	c.(658-660)ccC>ccT	p.P220P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	220					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)	AGGTACGCAGGGGCAATAGTT	0.463000														38			10		0	0	0.000673444	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879550	94879550	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94879550C>T	uc003unp.3	+	8	2595	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	PPP1R9A_uc010lfj.3_Silent_p.I793I|PPP1R9A_uc011kif.2_Silent_p.I771I|PPP1R9A_uc003unq.3_Silent_p.I771I|PPP1R9A_uc011kig.2_Silent_p.I771I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	771	Interacts with TGN38 (By similarity).					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)			AGAAGTTGATCAAGGATTTTC	0.353000										HNSCC(28;0.073)				14			34		0	0	0.000814825	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771899	100771899	+	Silent	SNP	A	C	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100771899A>C	uc003uxt.3	+	1	373	c.225A>C	c.(223-225)ggA>ggC	p.G75G	SERPINE1_uc011kkj.2_Silent_p.G60G|SERPINE1_uc003uxu.2_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	75				G -> V (in Ref. 7; CAA31208).	angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.G75R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAACAGGAGGAGAAACCCAGC	0.577000														21			19		0	0	0.000958276	0	0
GPR35	2859	broad.mit.edu	37	2	241569594	241569594	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241569594C>T	uc010fzi.2	+	5	1190	c.318C>T	c.(316-318)ttC>ttT	p.F106F	GPR35_uc010fzh.2_Silent_p.F106F|GPR35_uc021vze.1_Silent_p.F75F|GPR35_uc002vzs.2_Silent_p.F75F	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	75						integral to plasma membrane	G-protein coupled receptor activity	p.F75F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCTTGCCCTTCGTGCTGCACT	0.627000														41			32		0	0	0.000692331	0	0
FGD5	152273	broad.mit.edu	37	3	14939518	14939518	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:14939518C>T	uc003bzc.3	+	5	3092	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	FGD5_uc011avk.2_Silent_p.I994I|FGD5_uc003bzd.3_Silent_p.I72I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	994	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACTCACATCCTGCAGTTCG	0.602000														78			35		0	0	0.00128727	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005900	101005900	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:101005900C>T	uc001thu.3	+	5	652	c.426C>T	c.(424-426)ctC>ctT	p.L142L	GAS2L3_uc009zty.3_Silent_p.L142L|GAS2L3_uc001thv.3_Silent_p.L38L	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	142	CH.				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						AAACTTACCTCTTTGAATCTG	0.383000														68			26		0	0	0.00127121	0	0
ELTD1	64123	broad.mit.edu	37	1	79387305	79387305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:79387305G>A	uc001diq.4	-	8	1406	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	417	GPS.				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)		TACAATGGAAGGACCAGAGGA	0.358000														15			7		0	0	0.000157383	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	T	T	rs142326096		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:21318927C>T	uc021tss.1	+	2	643	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ18_uc002gyv.1_Silent_p.F91F|KCNJ18_uc021tst.1_Silent_p.F91F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	91						integral to membrane	inward rectifier potassium channel activity										CGCTGGCCTTCCTTGCCTCCT	0.622000														34			6		0	0	0.00116845	0	0
GPR116	221395	broad.mit.edu	37	6	46849839	46849839	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:46849839C>T	uc003oyo.3	-	6	907	c.618G>A	c.(616-618)cgG>cgA	p.R206R	GPR116_uc003oyp.3_Silent_p.R206R|GPR116_uc003oyq.3_Silent_p.R206R|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.R206R	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	206	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F205S(1)		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)			CGTAACCCTTCCGGAACTGAA	0.368000														44			30		0	0	0.00209593	0	0
MGAM	8972	broad.mit.edu	37	7	141759342	141759342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141759342G>A	uc003vwy.3	+	31	3944	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1297	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGTTTGCTGGGTTTCCAGCT	0.557000														33			55		0	0	0.000781405	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729769	37729769	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37729769C>T	uc004aag.1	+	7	701	c.657C>T	c.(655-657)atC>atT	p.I219I	FRMPD1_uc004aah.1_Silent_p.I219I|FRMPD1_uc011lqm.2_Silent_p.I41I|FRMPD1_uc011lqn.2_Silent_p.I88I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	219	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCGAAGTATCGAGTACTTTG	0.567000														74			26		0	0	0.000720815	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656217	40656217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:40656217C>T	uc002rrx.3	-	0	1228	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC8A1_uc002rry.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E402K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E402K|SLC8A1_uc010fan.1_Missense_Mutation_p.E402K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E402K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	402	Calx-beta 1.				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)	GGGTCATTTTCAGTCACTTCA	0.483000														27			13		0	0	0.000308642	0	0
TCRA	0	broad.mit.edu	37	14	22989412	22989412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22989412G>A	uc010ajj.1	+	2	479	c.332G>A	c.(331-333)gGa>gAa	p.G111E	TCRA_uc001wbw.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_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfo.2_Non-coding_Transcript|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Non-coding_Transcript|TCRA_uc021rql.1_5'Flank|TCRA_uc001wfs.2_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 29.																		AACCAGGGAGGAAAGCTTATC	0.423000														36			41		0	0	0.000781405	0	0
NACC1	112939	broad.mit.edu	37	19	13246315	13246315	+	Silent	SNP	C	T	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:13246315C>T	uc002mwm.3	+	1	462	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	98					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						GCGACCAGTTCCTGCTCATGT	0.627000														23			14		0	0	0.00244969	0	0
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182845333delT	uc001gpr.3	+	16	2139	c.1964delT	c.(1963-1965)gttfs	p.V655fs	DHX9_uc001gps.3_Frame_Shift_Del_p.V441fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													---	243	---	---	7	---					
PTPN14	5784	broad.mit.edu	37	1	214557011	214557019	+	In_Frame_Del	DEL	CTCCCGGAG	-	-	rs143375730	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:214557011_214557019delCTCCCGGAG	uc001hkk.2	-	12	2832_2840	c.2179_2187delCTCCGGGAG	c.(2179-2187)ctccgggagdel	p.LRE727del	PTPN14_uc021piy.1_In_Frame_Del_p.LRE491del|PTPN14_uc010pty.2_In_Frame_Del_p.LRE628del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	727					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACTCCATCTTCTCCCGGAGCATGGGGATC	0.617													---	67	---	---	9	---					
PCNXL2	80003	broad.mit.edu	37	1	233121997	233121997	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:233121997delG	uc001hvl.2	-	32	6316	c.6081delC	c.(6079-6081)tccfs	p.S2027fs	PCNXL2_uc001hvk.1_Frame_Shift_Del_p.S679fs|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	2027	Ser-rich.					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)				AGCTCAGGGTGGAGCTGGTGG	0.652													---	4	---	---	2	---					
RFTN1	23180	broad.mit.edu	37	3	16419362	16419362	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:16419362delT	uc003cay.3	-	4	971	c.689delA	c.(688-690)gagfs	p.E230fs	RFTN1_uc010hes.3_Frame_Shift_Del_p.E194fs	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	230						plasma membrane		p.G229E(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GAGGGGCACCTCCCCTCTGGG	0.637													---	22	---	---	23	---					
NMU	10874	broad.mit.edu	37	4	56465332	56465337	+	In_Frame_Del	DEL	CTTCTT	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:56465332_56465337delCTTCTT	uc003hbc.3	-	8	607_612	c.501_506delAAGAAG	c.(499-507)ggaagaagg>ggg	p.RR168del	NMU_uc003hbd.1_Non-coding_Transcript|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_In_Frame_Del_p.RR83del|NMU_uc010igx.1_Non-coding_Transcript	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	168					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CCCTGCTGACCTTCTTCCATTCCGTG	0.306													---	27	---	---	7	---					
PCLO	27445	broad.mit.edu	37	7	82545344	82545344	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:82545344delA	uc003uhx.2	-	6	12247	c.11958delT	c.(11956-11958)cttfs	p.L3986fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.L3986fs|PCLO_uc010lec.3_Frame_Shift_Del_p.L951fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3917					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						GTGCTATCATAAGGGGTTGGT	0.398													---	175	---	---	80	---					
CACNA2D4	93589	broad.mit.edu	37	12	1995401	1995401	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:1995401delA	uc021qsx.1	-	7	1212	c.981delT	c.(979-981)attfs	p.I327fs	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.	327	VWFA.		I -> V (in dbSNP:rs10735005).			integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTATGATATTAATGAAGTCAT	0.493													---	29	---	---	31	---					
FBN1	2200	broad.mit.edu	37	15	48797337	48797339	+	In_Frame_Del	DEL	GTT	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:48797337_48797339delGTT	uc001zwx.2	-	15	2238_2240	c.1843_1845delAAC	c.(1843-1845)aacdel	p.N615del		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	615	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCACACTCGTTAATGTCTGTG	0.424													---	32	---	---	11	---					
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	-	-	rs68130327	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	uc002gim.2	-	4	723_740	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)ccccaccatgagcgctgcdel	p.PHHERC177del	TP53_uc002gig.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gih.3_In_Frame_Del_p.PHHERC177del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cnf.1_In_Frame_Del_p.PHHERC45del|TP53_uc002gii.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cni.1_In_Frame_Del_p.PHHERC177del|TP53_uc010cnh.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gij.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.PHHERC84del|TP53_uc002gio.2_In_Frame_Del_p.PHHERC45del|TP53_uc010vug.2_In_Frame_Del_p.PHHERC138del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.H179R(214)|p.H179Y(188)|p.C176F(112)|p.H179L(78)|p.C176Y(59)|p.H179Q(42)|p.R181H(42)|p.R181C(37)|p.P177L(34)|p.P177R(34)|p.H178fs*69(31)|p.H179N(30)|p.E180*(28)|p.R181P(26)|p.H179D(24)|p.P177P(20)|p.C176S(19)|p.P177_C182delPHHERC(16)|p.C182S(16)|p.P177S(16)|p.H178Y(16)|p.C176R(12)|p.H178P(12)|p.H178D(12)|p.C176W(11)|p.E180K(11)|p.H178fs*3(11)|p.E180D(10)|p.H178Q(10)|p.C182*(10)|p.C176*(8)|p.0?(8)|p.C176fs*71(7)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H47Y(6)|p.P177H(6)|p.H178N(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.R181L(6)|p.H179fs*68(4)|p.C176G(4)|p.H179H(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.H47L(4)|p.P177fs*3(4)|p.C182R(4)|p.C182Y(4)|p.C182C(4)|p.H86L(4)|p.R181R(4)|p.R174fs*24(3)|p.C176fs*5(3)|p.E180G(2)|p.E180fs*67(2)|p.E180Q(2)|p.E171_H179delEVVRRCPHH(2)|p.H178fs*6(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H178L(2)|p.H179del(2)|p.P177fs*4(2)|p.E180>DGRCPHQ(2)|p.H178del(2)|p.E180_S183del(2)|p.P177T(2)|p.R49C(2)|p.R175_H178>X(2)|p.C176_P177delCP(2)|p.R88C(2)|p.P177fs*69(2)|p.C182fs*4(2)|p.R174_E180>K(2)|p.P177I(2)|p.H86R(2)|p.P177_E180delPHHE(2)|p.H86Q(2)|p.C182fs*65(2)|p.H85fs*69(2)|p.C176fs*65(2)|p.R181G(2)|p.C176fs*68(2)|p.R181Y(2)|p.R174_H178>S(2)|p.R181>XXXXXXX(2)|p.H46fs*>45(2)|p.H178_H179>QY(2)|p.V173fs*59(2)|p.P177_H179delPHH(2)|p.E180fs*6(2)|p.V173fs*69(1)|p.R174fs*70(1)|p.P45R(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V157_C176del20(1)|p.H179fs*?(1)|p.E171fs*1(1)|p.H168fs*69(1)|p.C176del(1)|p.E48D(1)|p.K164_P219del(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R42fs*24(1)|p.R88P(1)|p.P177_C182del(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.H46D(1)|p.H85D(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.C176fs*6(1)|p.P84R(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)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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)			---	11	---	---	11	---					
KIAA0355	9710	broad.mit.edu	37	19	34840010	34840011	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:34840010_34840011delTC	uc002nvd.4	+	11	3636_3637	c.2777_2778delTC	c.(2776-2778)ttcfs	p.F926fs		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	926										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)					GACAGCTTGTTCTCCATGTTTT	0.559													---	57	---	---	11	---					
TFE3	7030	broad.mit.edu	37	X	48888962	48888980	+	Frame_Shift_Del	DEL	GGCTCTCCAGGTCTTTGGA	-	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:48888962_48888980delGGCTCTCCAGGTCTTTGGA	uc004dmb.3	-	8	1454_1472	c.1216_1234delTCCAAAGACCTGGAGAGCC	c.(1216-1236)tccaaagacctggagagccggfs	p.S406fs	TFE3_uc004dmc.3_Frame_Shift_Del_p.S301fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	406					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GATCGCTGCCGGCTCTCCAGGTCTTTGGAGCGCTGCTGC	0.607			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								---	3	---	---	5	---					
