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
ULK2	9706	broad.mit.edu	37	17	19700741	19700741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:19700741G>A	uc002gwm.4	-	17	2286	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ULK2_uc002gwn.3_Missense_Mutation_p.P593S	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	593					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGGCAAAGGAGTTTTAAAG	0.468000														19			8		0	0	0.000157383	0	0
ZNF318	24149	broad.mit.edu	37	6	43308005	43308006	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:43308005_43308006GG>TT	uc003oux.3	-	9	3808_3809	c.3730_3731CC>AA	c.(3730-3732)cct>AAt	p.P1244N	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1244	Lys-rich.				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)			AGCTTTTTCAGGGGAGTTCCTA	0.401000														150			7		0	0	6.4e-05	0	0
RYR1	6261	broad.mit.edu	37	19	38951100	38951100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:38951100C>T	uc002oit.3	+	19	2576	c.2446C>T	c.(2446-2448)Cct>Tct	p.P816S	RYR1_uc002oiu.3_Missense_Mutation_p.P816S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	816					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)	GGCTGTGCTCCCTCGAGAGCG	0.632000														27			20		0	0	0.000229342	0	0
SI	6476	broad.mit.edu	37	3	164786982	164786982	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:164786982C>T	uc003fei.3	-	4	319	c.256_splice	c.e4-1	p.G86_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	86	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCACAAATTCCCTGATAAAA	0.348000										HNSCC(35;0.089)				32			11		0	0	0.000308642	0	0
OTX2	5015	broad.mit.edu	37	14	57268674	57268674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:57268674C>T	uc001xcq.3	-	4	947	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	OTX2_uc001xcp.3_Missense_Mutation_p.A217T|OTX2_uc021rtm.1_Missense_Mutation_p.A47T|OTX2_uc010aou.3_Missense_Mutation_p.A217T	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	217					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.G224R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTGAGTGTGGCCCCTGGTCCG	0.522000														28			11		0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82387996	82387996	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:82387996T>A	uc003uhx.2	-	24	15613	c.15324A>T	c.(15322-15324)aaA>aaT	p.K5108N		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5031					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						TCAAGGTCTTTTTCATAAACT	0.333000														61			30		0	0	0.00106085	0	0
CORO2B	10391	broad.mit.edu	37	15	68987586	68987586	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:68987586G>A	uc002arj.4	+	2	618	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CORO2B_uc021spj.1_Silent_p.E103E|CORO2B_uc010bic.3_Silent_p.E103E	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	108					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGTGCTCGGAGGACACGTCGG	0.612000														39			20		0	0	0.000229342	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882742	43882742	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:43882742G>A	uc009xmh.1	-	2	1078	c.591C>T	c.(589-591)ccC>ccT	p.P197P	HNRNPF_uc001jar.2_Silent_p.P197P|HNRNPF_uc001jas.2_Silent_p.P197P|HNRNPF_uc001jat.2_Silent_p.P197P|HNRNPF_uc001jav.2_Silent_p.P197P|HNRNPF_uc001jau.2_Silent_p.P197P|HNRNPF_uc021ppg.1_Silent_p.P197P|HNRNPF_uc010qfa.1_Missense_Mutation_p.G142R	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	197					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTTCAGAGGGGGATCTGAGT	0.562000														35			23		0	0	0.000586117	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32143124	32143124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:32143124G>A	uc001ivz.1	-	4	1229	c.959C>T	c.(958-960)tCg>tTg	p.S320L	ARHGAP12_uc001ivy.1_Intron|ARHGAP12_uc009xls.2_Intron|ARHGAP12_uc001iwb.1_Missense_Mutation_p.S318L|ARHGAP12_uc001iwc.1_Missense_Mutation_p.S318L|ARHGAP12_uc009xlq.1_Intron|ARHGAP12_uc009xlr.1_Missense_Mutation_p.S318L	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	320					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTTTCTTCCGATGAAAGAAG	0.353000														12			4		0	0	0.00024832	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781414	128781414	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:128781414G>A	uc001qet.3	+	1	560	c.246G>A	c.(244-246)gtG>gtA	p.V82V	KCNJ5_uc009zck.3_Silent_p.V82V|KCNJ5_uc001qew.3_Silent_p.V82V	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	82					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L81L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCACCCTGGTGGACCTCAAGT	0.557000														20			13		0	0	0.000151284	0	0
CDC37	11140	broad.mit.edu	37	19	10502343	10502343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10502343G>A	uc002mof.1	-	7	1137	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	341					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GGGACCCAGAGGCCAGAGTCA	0.632000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			13		0	0	0.000219431	0	0
THBS3	7059	broad.mit.edu	37	1	155168388	155168388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:155168388C>T	uc001fix.3	-	16	1991	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	THBS3_uc021pat.1_Missense_Mutation_p.G26E|THBS3_uc010pfu.2_Missense_Mutation_p.G509E|THBS3_uc009wqi.3_Missense_Mutation_p.G620E|THBS3_uc001fiy.3_Missense_Mutation_p.G158E|THBS3_uc010pfv.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	629					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGCCCATCCCCATCGCTAAT	0.512000														62			11		0	0	0.000151284	0	0
C1QL3	389941	broad.mit.edu	37	10	16562520	16562520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:16562520C>T	uc001ioj.1	-	0	1485	c.545G>A	c.(544-546)gGg>gAg	p.G182E		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	182	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTGCCGTCCCCTCCGCGCAT	0.662000														7			7		0	0	8.12818e-05	0	0
OR13D1	286365	broad.mit.edu	37	9	107457101	107457101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:107457101G>A	uc011lvs.2	+	0	399	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTCTGCAGATGGTTGTGTCCC	0.483000														41			34		0	0	0.000228196	0	0
PEAK1	79834	broad.mit.edu	37	15	77450995	77450995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:77450995G>A	uc021sqy.1	-	5	3757	c.3181C>T	c.(3181-3183)Cca>Tca	p.P1061S	PEAK1_uc002bcn.2_Missense_Mutation_p.P1061S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1061					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACAGTTCTTGGATCCCGAGGA	0.443000														38			7		0	0	0.000274275	0	0
PAK7	57144	broad.mit.edu	37	20	9624797	9624797	+	Silent	SNP	T	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:9624797T>G	uc002wnl.2	-	3	725	c.180A>C	c.(178-180)acA>acC	p.T60T	PAK7_uc002wnk.2_Silent_p.T60T|PAK7_uc002wnj.2_Silent_p.T60T|PAK7_uc010gby.1_Silent_p.T60T	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	60	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)			GCTGGATGGGTGTGATGCATG	0.512000														24			14		0	0	0.00074312	0	0
PARP6	56965	broad.mit.edu	37	15	72534509	72534509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:72534509G>A	uc002auc.3	-	20	2153	c.1694C>T	c.(1693-1695)gCa>gTa	p.A565V	PARP6_uc002aua.3_Missense_Mutation_p.A411V|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.A566V	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	565	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTCACAAAGTGCTATACAGTT	0.473000														26			10		0	0	0.000978159	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876453	120876453	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:120876453T>A	uc003eec.4	+	8	996	c.856T>A	c.(856-858)Ttc>Atc	p.F286I	STXBP5L_uc011bji.2_Missense_Mutation_p.F286I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	286					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGTCGCCCTTTCCAGACCAC	0.408000														50			12		0	0	0.00010058	0	0
SSTR2	6752	broad.mit.edu	37	17	71166295	71166295	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:71166295C>T	uc002jje.3	+	1	1197	c.837C>T	c.(835-837)tcC>tcT	p.S279S	SSTR2_uc021ucm.1_Silent_p.S279S	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	279					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ACGTTTCTTCCGTCTCCATGG	0.507000														20			47		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197396933	197396933	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:197396933G>A	uc001gtz.3	+	6	2687	c.2478G>A	c.(2476-2478)aaG>aaA	p.K826K	CRB1_uc010poz.2_Silent_p.K757K|CRB1_uc009wza.3_Silent_p.K714K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.K307K|CRB1_uc001gub.1_Silent_p.K475K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	826	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						AAATCGAAAAGGGAGATGTCA	0.378000														34			9		0	0	0.000274275	0	0
TLR3	7098	broad.mit.edu	37	4	187004904	187004904	+	Silent	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:187004904G>T	uc003iyq.3	+	3	2165	c.2064G>T	c.(2062-2064)gtG>gtT	p.V688V	TLR3_uc011ckz.2_Silent_p.V411V|TLR3_uc003iyr.3_Silent_p.V411V	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	688	LRRCT.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GGTTCCCAGTGAGACTTTTTG	0.413000														201			10		0.000978159	0.00896877	0.000978159	1	0
BCL7B	9275	broad.mit.edu	37	7	72954361	72954361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:72954361G>A	uc003tyf.2	-	3	444	c.287C>T	c.(286-288)tCc>tTc	p.S96F	BCL7B_uc010lbf.2_Non-coding_Transcript|BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Intron	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA.	96							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCAGACACGGAACTCTGGTT	0.552000														10			4		0	0	0.00024832	0	0
GCN1L1	10985	broad.mit.edu	37	12	120615493	120615493	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:120615493G>A	uc001txo.3	-	7	736	c.723C>T	c.(721-723)taC>taT	p.Y241Y		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	241					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCAACAGGTACTTCGGAG	0.468000														100			45		0	0	0.000781405	0	0
UBAP2	55833	broad.mit.edu	37	9	33986766	33986767	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:33986766_33986767CG>AT	uc003ztq.1	-	5	624_625	c.511_512CG>AT	c.(511-513)cgg>ATg	p.R171M	UBAP2_uc011loc.1_Missense_Mutation_p.R133M|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R96M|UBAP2_uc011log.1_Missense_Mutation_p.R170M|UBAP2_uc003ztr.2_Missense_Mutation_p.R96M	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	171								p.R171R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACCTCTACCCCGGGCTCGCTTG	0.465000														314			9		0	0	6.4e-05	0	0
ZNF438	220929	broad.mit.edu	37	10	31134453	31134453	+	Missense_Mutation	SNP	C	T	T	rs35170728		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:31134453C>T	uc010qdz.2	-	7	2359	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ZNF438_uc001ivn.3_Missense_Mutation_p.E593K|ZNF438_uc010qdy.2_Missense_Mutation_p.E632K|ZNF438_uc001ivo.4_Missense_Mutation_p.E206K|ZNF438_uc009xlg.3_Missense_Mutation_p.E642K|ZNF438_uc001ivp.4_Missense_Mutation_p.E632K|ZNF438_uc010qea.2_Missense_Mutation_p.E642K|ZNF438_uc010qeb.2_Missense_Mutation_p.E642K	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AATTTGACTTCGTCTGCCTGG	0.358000														44			18		0	0	0.000132079	0	0
MYH3	4621	broad.mit.edu	37	17	10541696	10541696	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:10541696C>T	uc002gmq.2	-	26	3481	c.3393G>A	c.(3391-3393)gcG>gcA	p.A1131A		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1131					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						TCTCTGTCTTCGCGCGGGTGG	0.662000														23			13		0	0	0.000219431	0	0
PARVG	64098	broad.mit.edu	37	22	44579262	44579263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:44579262_44579263CC>TT	uc011aqe.2	+	2	477_478	c.53_54CC>TT	c.(52-54)ccc>cTT	p.P18L	PARVG_uc010gzo.3_Missense_Mutation_p.P85L|PARVG_uc021wra.1_Missense_Mutation_p.P18L|PARVG_uc003bep.3_Missense_Mutation_p.P18L|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.P18L|PARVG_uc011aqf.2_Missense_Mutation_p.P18L|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	18					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGGGTGGAGCCCCCAGCGGAGG	0.649000														9			5		0	0	6.4e-05	0	0
FBN3	84467	broad.mit.edu	37	19	8193922	8193922	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:8193922C>T	uc002mjf.3	-	16	2303	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	762	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.E762*(1)		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						CTTTGCAGATCTCCGTGTCCT	0.602000														21			13		0	0	0.00010058	0	0
abParts	0	broad.mit.edu	37	14	106791139	106791139	+	RNA	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106791139C>T	uc021ser.1	-	619		c.17253G>A								Parts of antibodies, mostly variable regions.																		TTACTTCCATCATATGATATA	0.512000														175			23		0	0	0.000229342	0	0
SMG1	23049	broad.mit.edu	37	16	18839436	18839436	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:18839436G>C	uc002dfm.3	-	54	10021	c.9658C>G	c.(9658-9660)Ccc>Gcc	p.P3220A	SMG1_uc010bwb.3_Missense_Mutation_p.P3080A|SMG1_uc010bwa.3_Missense_Mutation_p.P1951A	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3220					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						GACCGTGGGGGAGGTGTGACT	0.428000														18			6		0	0	8.12818e-05	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	A	A	rs151037028		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:46826469G>A	uc003oyo.3	-	16	3460	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(4)		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)			GGGAGGCAGCGATATTCACTA	0.537000														21			17		0	0	0.000132079	0	0
ZNF675	171392	broad.mit.edu	37	19	23844919	23844919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:23844919G>A	uc002nri.3	-	2	405	c.223C>T	c.(223-225)Cca>Tca	p.P75S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	75	KRAB.				I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACTTACCTGGGGGTTCATTC	0.438000														76			22		0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179496019	179496019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179496019G>A	uc021vsy.1	-	185	36277	c.36052C>T	c.(36052-36054)Cca>Tca	p.P12018S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P5713S|TTN_uc021vta.1_Missense_Mutation_p.P5646S|TTN_uc021vtb.1_Missense_Mutation_p.P5521S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12945	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAAATATGGGTCTCCCTCT	0.353000														9			5		0	0	8.12818e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18075514	18075514	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18075514C>T	uc021trm.1	+	62	10479	c.10260C>T	c.(10258-10260)ttC>ttT	p.F3420F	MYO15A_uc021trl.1_Silent_p.F3418F|MYO15A_uc010vxi.2_Silent_p.F684F|MYO15A_uc010vxk.1_Silent_p.F113F|MYO15A_uc010vxl.1_Silent_p.F409F|MYO15A_uc002gsl.3_Intron|MYO15A_uc010vxm.2_Missense_Mutation_p.S244L|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3420	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.F3420I(1)		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)					CCTTCTTCTTCATCCAGAGCT	0.582000														29			18		0	0	0.000566183	0	0
CELF1	10658	broad.mit.edu	37	11	47496921	47496921	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:47496921G>A	uc001nfp.3	-	12	1642	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	CELF1_uc001nfl.3_Nonsense_Mutation_p.Q386*|CELF1_uc010rhm.2_Nonsense_Mutation_p.Q385*|CELF1_uc001nfm.3_Nonsense_Mutation_p.Q383*|CELF1_uc001nfk.2_Nonsense_Mutation_p.Q412*|CELF1_uc001nfn.3_Nonsense_Mutation_p.Q382*|CELF1_uc001nfr.1_Nonsense_Mutation_p.Q386*	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	386	RRM 3.				RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCAATACTCTGCTGTGTCAGA	0.567000														23			11		0	0	0.000219431	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984672	51984672	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51984672C>T	uc002pwv.1	+	3	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	203						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGGCATCTCCGTCAATGCCA	0.517000														30			9		0	0	0.000978159	0	0
SNCAIP	9627	broad.mit.edu	37	5	121726784	121726784	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:121726784G>A	uc003ksw.1	+	2	161	c.-45_splice	c.e2-1		SNCAIP_uc011cwl.1_Splice_Site|SNCAIP_uc010jct.3_Splice_Site|SNCAIP_uc003ksy.1_Splice_Site|SNCAIP_uc003ksx.1_Splice_Site|SNCAIP_uc003ksz.1_Splice_Site|SNCAIP_uc010jcu.2_Splice_Site|SNCAIP_uc011cwm.1_Splice_Site|SNCAIP_uc003kta.1_Splice_Site|SNCAIP_uc010jcv.1_Splice_Site|SNCAIP_uc010jcw.1_Splice_Site|SNCAIP_uc010jcx.1_Splice_Site	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.						cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTCGTTCAGGAATTTATAAG	0.323000														30			11		0	0	0.000673444	0	0
NTNG1	22854	broad.mit.edu	37	1	107973430	107973430	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:107973430C>T	uc001dvh.4	+	5	1864	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Intron|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Intron|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Intron|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	382	Laminin EGF-like 2.				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)		TAAATACAGTCATTTGCGTGA	0.438000														13			4		0	0	0.00024832	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:158644451G>A	uc001fst.1	-	8	1326	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	376					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)					AAAGTCAGATGAAAATCGATG	0.453000														82			36		0	0	0.000319135	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976667	34976667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:34976667G>A	uc003zvq.3	+	4	957	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KIAA1045_uc003zvr.3_Missense_Mutation_p.R260Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	260							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAACATCGAGGCCACATA	0.632000														20			35		0	0	0.000228196	0	0
NKX2-3	159296	broad.mit.edu	37	10	101293204	101293204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:101293204G>A	uc009xwj.3	+	0	515	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	DQ372722_uc001kps.2_5'Flank	NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	Homo sapiens NK2 homeobox 3 (NKX2-3), mRNA.	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CGAGCCCAAGGAACATGAAGA	0.612000														3			4		0	0	0.00024832	0	0
SPEN	23013	broad.mit.edu	37	1	16202846	16202846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:16202846C>T	uc001axk.1	+	2	758	c.554C>T	c.(553-555)gCt>gTt	p.A185V	SPEN_uc010obp.1_Missense_Mutation_p.A144V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	185	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCTATTACGCTTCTCGGAGT	0.507000														12			15		0	0	0.000308642	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167038	140167038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140167038C>T	uc003lhb.2	+	0	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	PCDHAC2_uc003lha.2_Missense_Mutation_p.S388F|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S388F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTTGCTCCTTAATGCCC	0.562000														43			23		0	0	0.000586117	0	0
ZNF681	148213	broad.mit.edu	37	19	23926712	23926712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:23926712G>A	uc002nrk.4	-	3	1782	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ZNF681_uc002nrl.4_Missense_Mutation_p.S478L|ZNF681_uc002nrj.4_Missense_Mutation_p.S478L	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGCAAGATGTGAGGAATGGTT	0.393000														27			10		0	0	0.000673444	0	0
CCDC33	80125	broad.mit.edu	37	15	74573098	74573098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74573098G>A	uc002axo.3	+	8	1373	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	CCDC33_uc002axp.3_Missense_Mutation_p.G149R	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	530	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GATGCTGACAGGGAAAGGCTT	0.642000														22			12		0	0	0.000219431	0	0
MUC17	140453	broad.mit.edu	37	7	100684301	100684301	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100684301A>C	uc003uxp.1	+	2	9657	c.9604A>C	c.(9604-9606)Act>Cct	p.T3202P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3202	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGCCACTTCATCTAC	0.502000														238			8		0	0	0.000978159	0	0
FIG4	9896	broad.mit.edu	37	6	110098157	110098157	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:110098157C>T	uc003ptt.2	+	15	1998	c.1783C>T	c.(1783-1785)Ctg>Ttg	p.L595L	FIG4_uc011eau.1_Silent_p.L318L	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	595					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TAATCTCTTCCTGGGAGTTTT	0.358000														41			17		0	0	0.000566183	0	0
SLC9C1	285335	broad.mit.edu	37	3	111899457	111899457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:111899457C>T	uc003dyu.3	-	21	2924	c.2702G>A	c.(2701-2703)gGt>gAt	p.G901D	SLC9C1_uc011bhu.2_Missense_Mutation_p.G164D|SLC9C1_uc010hqc.3_Missense_Mutation_p.G853D	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	901					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GGGCTCATCACCTTCTTCAAA	0.308000														33			12		0	0	0.000151284	0	0
TTN	7273	broad.mit.edu	37	2	179425950	179425950	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179425950A>T	uc021vsy.1	-	274	77430	c.77205T>A	c.(77203-77205)aaT>aaA	p.N25735K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N19430K|TTN_uc021vta.1_Missense_Mutation_p.N19363K|TTN_uc021vtb.1_Missense_Mutation_p.N19238K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26662	Fibronectin type-III 87.						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)			TATTAGTATAATTGCACTTCA	0.398000														22			27		0	0	0.000586117	0	0
UPK3A	7380	broad.mit.edu	37	22	45683217	45683217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:45683217G>A	uc003bfy.3	+	2	400	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	125					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTGTCCAAGGCCTCACAGAT	0.612000														21			11		0	0	0.00010058	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881382	108881382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:108881382G>A	uc010ywo.2	+	5	723	c.723G>A	c.(721-723)atG>atA	p.M241I		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	241						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TTGATGTAATGAAGCAAAACC	0.398000														38			14		0	0	0.000308642	0	0
C12orf51	283450	broad.mit.edu	37	12	112667565	112667565	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:112667565G>A	uc021reb.1	-	40	6450	c.6054C>T	c.(6052-6054)gcC>gcT	p.A2018A	C12orf51_uc001ttr.1_5'Flank	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						GTGCGGCAACGGCCTGGCGTG	0.498000														70			39		0	0	0.000437636	0	0
MTUS2	23281	broad.mit.edu	37	13	29933429	29933429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:29933429G>A	uc001usl.4	+	5	3024	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	979	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCGGCAGCTCGAAATGGGTTT	0.587000														8			4		0	0	0.000602214	0	0
COL1A1	1277	broad.mit.edu	37	17	48267041	48267041	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48267041G>A	uc002iqm.3	-	38	2793	c.2667_splice	c.e38+1	p.S889_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	889	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GAGACTTACAGAGGGGCCAGG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							12			10		0	0	0.000673444	0	0
ATMIN	23300	broad.mit.edu	37	16	81078293	81078293	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81078293C>T	uc002ffz.1	+	3	2208	c.2190C>T	c.(2188-2190)tcC>tcT	p.S730S	ATMIN_uc002fga.2_Silent_p.S572S|ATMIN_uc010vnn.1_Silent_p.S501S|ATMIN_uc002fgb.1_Silent_p.S572S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	730					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCAGCTTTTCCGTGAGTACTG	0.423000														54			23		0	0	0.000375601	0	0
ADCY7	113	broad.mit.edu	37	16	50324451	50324451	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:50324451C>T	uc002egd.1	+	1	523	c.255C>T	c.(253-255)gtC>gtT	p.V85V	ADCY7_uc002egb.1_Silent_p.V85V|ADCY7_uc002egc.2_Silent_p.V85V	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	85					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGATGTACGTCGAGTGTCTCC	0.642000														22			22		0	0	0.000720815	0	0
HECW1	23072	broad.mit.edu	37	7	43496010	43496010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:43496010C>T	uc003tid.1	+	12	3220	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L	HECW1_uc011kbi.1_Missense_Mutation_p.S838L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	872					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.I871I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGCGGAGATCGGGGTCCATC	0.582000														25			5		0	0	3.59834e-05	0	0
RBM12	10137	broad.mit.edu	37	20	34241734	34241734	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:34241734G>T	uc021wcr.1	-	0	1511	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P504Q|RBM12_uc002xds.3_Missense_Mutation_p.P504Q|RBM12_uc002xdr.3_Missense_Mutation_p.P504Q|RBM12_uc021wcq.1_Missense_Mutation_p.P504Q	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	504	RRM 2.					nucleus	RNA binding|nucleotide binding|protein binding	p.H503N(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTAGTAATTGGATGAACTTG	0.408000														146			7		0.000274275	0.00253283	0.000274275	1	0
EDEM3	80267	broad.mit.edu	37	1	184692952	184692952	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:184692952T>G	uc010pom.2	-	7	1047	c.786A>C	c.(784-786)aaA>aaC	p.K262N	EDEM3_uc010pok.2_Missense_Mutation_p.K262N|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Missense_Mutation_p.K185N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	262					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCGCTGTCTTTTTTCCCAGA	0.318000														127			37		0	0	0.000270559	0	0
VTA1	51534	broad.mit.edu	37	6	142468497	142468497	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:142468497C>T	uc003qiw.3	+	0	88	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	VTA1_uc011edu.2_5'UTR	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	25	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GAGGACGGCTCAGGAGCATGA	0.577000											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			11		0	0	0.000978159	0	0
FNDC1	84624	broad.mit.edu	37	6	159672423	159672423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:159672423G>A	uc010kjv.3	+	16	5124	c.4924G>A	c.(4924-4926)Gaa>Aaa	p.E1642K		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1642						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)		CAGCCTGGATGAAATCATCCC	0.527000														18			11		0	0	0.000978159	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:9417698G>A	uc021wam.1	+	25	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_uc010gbw.1_Missense_Mutation_p.G876E|PLCB4_uc010gbx.3_Missense_Mutation_p.G888E|PLCB4_uc021wal.1_Missense_Mutation_p.G876E|PLCB4_uc002wnh.3_Missense_Mutation_p.G723E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	876					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						GACAAGAAAGGAAAGGCCAAC	0.498000														5			13		0	0	0.000151284	0	0
OR4S1	256148	broad.mit.edu	37	11	48328418	48328418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:48328418C>T	uc010rhu.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTATCATTTCCTATGTTATC	0.463000														46			23		0	0	0.000375601	0	0
MUC16	94025	broad.mit.edu	37	19	9057172	9057172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9057172C>T	uc002mkp.3	-	2	30478	c.30274G>A	c.(30274-30276)Gat>Aat	p.D10092N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10094	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						TTCTCTGTATCTGTGGTGACT	0.458000														59			17		0	0	0.000422831	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649365	48649365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48649365G>A	uc002irk.1	+	4	1085	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R238Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R238Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R238Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R151Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R151Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R151Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R151Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R151Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R151Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R238Q(1)		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)	GGGCTGCTTCGGAACCGATGC	0.607000														21			7		0	0	0.000157383	0	0
TROAP	10024	broad.mit.edu	37	12	49723209	49723209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:49723209C>T	uc009zlh.3	+	10	1303	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	TROAP_uc001rtx.4_Missense_Mutation_p.S379F	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	379					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCCCTCAGTCCTGCTCTGAA	0.602000														20			7		0	0	0.000673444	0	0
HTT	3064	broad.mit.edu	37	4	3174732	3174732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:3174732C>T	uc021xkv.1	+	30	4185	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1347					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGCCTTGGCTCCTCCAGTGTG	0.572000														24			20		0	0	0.000175454	0	0
SLC22A5	6584	broad.mit.edu	37	5	131713919	131713919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:131713919C>T	uc003kwx.4	+	1	721	c.457C>T	c.(457-459)Cct>Tct	p.P153S	SLC22A5_uc003kww.4_Intron	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	131					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCTCTGCCTTCCTGCCCAGGT	0.502000														11			4		0	0	0.00024832	0	0
KLK15	55554	broad.mit.edu	37	19	51331043	51331043	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51331043T>A	uc002ptl.3	-	1	103	c.72A>T	c.(70-72)gaA>gaT	p.E24D	KLK15_uc002ptm.3_Missense_Mutation_p.E24D|KLK15_uc002ptn.3_Missense_Mutation_p.E24D|KLK15_uc002pto.3_Missense_Mutation_p.E23D|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E23D|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	24	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACTCGTCACCTTCCAGCAACT	0.582000														23			13		0	0	0.000958276	0	0
C8orf34	116328	broad.mit.edu	37	8	69445360	69445360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:69445360G>A	uc010lyz.3	+	6	1372	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	C8orf34_uc010lyy.2_Missense_Mutation_p.E361K|C8orf34_uc003xyb.3_Missense_Mutation_p.E250K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	275					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TATTGATAATGAAGATGATGC	0.348000														49			21		0	0	0.000586117	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506366	6506366	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:6506366C>T	uc001iji.1	-	12	1537	c.1453_splice	c.e12-1	p.E485_splice	PRKCQ_uc001ijj.2_Splice_Site_p.E452_splice|PRKCQ_uc009xim.2_Splice_Site_p.E452_splice|PRKCQ_uc009xin.2_Splice_Site_p.E416_splice|PRKCQ_uc010qax.2_Splice_Site_p.E327_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	452	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGAGGTTTTCCTGTGGAAAA	0.423000														98			62		0	0	0.000781405	0	0
MYO15A	51168	broad.mit.edu	37	17	18023638	18023638	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18023638G>A	uc021trm.1	+	0	1743	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	MYO15A_uc021trl.1_Silent_p.G508G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	508	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)					TCCCCTTGGGGGATGCGGACG	0.657000														22			12		0	0	0.000151284	0	0
CEP350	9857	broad.mit.edu	37	1	179981138	179981138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:179981138C>T	uc001gnt.3	+	8	1704	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	CEP350_uc009wxl.2_Missense_Mutation_p.P440S|CEP350_uc001gnu.3_Missense_Mutation_p.P275S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	441						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGGACCTGCTCCCAGAATGGA	0.373000														11			5		0	0	0.000602214	0	0
C16orf71	146562	broad.mit.edu	37	16	4794906	4794906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:4794906G>A	uc002cxn.3	+	5	1399	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	313										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGCTCATGGAACAGCTGGC	0.612000														19			11		0	0	0.00010058	0	0
OSMR	9180	broad.mit.edu	37	5	38933078	38933078	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:38933078G>A	uc003jln.2	+	17	2874	c.2472G>A	c.(2470-2472)agG>agA	p.R824R	OSMR_uc011cpj.2_Silent_p.R28R	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	824					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)					TAGGCACTAGGAAGTCACTCA	0.443000														44			28		0	0	0.000184323	0	0
KLHL32	114792	broad.mit.edu	37	6	97562123	97562123	+	Silent	SNP	T	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:97562123T>G	uc010kcm.1	+	6	1564	c.1092T>G	c.(1090-1092)gcT>gcG	p.A364A	KLHL32_uc003poy.3_Silent_p.A364A|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Silent_p.A328A|KLHL32_uc011eae.1_Silent_p.A295A|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	364										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGACGTGTGCTGTGAGGACTG	0.587000														22			7		0	0	8.12818e-05	0	0
DSC1	1823	broad.mit.edu	37	18	28737400	28737400	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:28737400G>A	uc002kwn.3	-	2	547	c.285C>T	c.(283-285)ttC>ttT	p.F95F	DSC1_uc002kwm.3_Silent_p.F95F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	95					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)			CATCTGAAAGGAAAATGGAAA	0.423000														36			23		0	0	0.000878237	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255701	15255701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:15255701G>A	uc001iob.3	-	7	1893	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	629						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						CTGTGAGGACGGGTGTGGGAA	0.622000														43			21		0	0	0.000175454	0	0
SRRM2	23524	broad.mit.edu	37	16	2810467	2810467	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2810467C>T	uc002crk.3	+	9	1548	c.999C>T	c.(997-999)agC>agT	p.S333S	SRRM2_uc002crj.1_Silent_p.S237S|SRRM2_uc002crl.1_Silent_p.S333S|SRRM2_uc010bsu.1_Silent_p.S237S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	333	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCTAGCAGCCCTTATGAAG	0.488000														24			13		0	0	0.000308642	0	0
MFSD9	84804	broad.mit.edu	37	2	103334980	103334980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:103334980G>A	uc002tcb.2	-	5	1392	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.P381S	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	442					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCCAGGCTGGGGGGGCCGCAA	0.562000														32			14		0	0	0.00074312	0	0
OR51G1	79324	broad.mit.edu	37	11	4945255	4945255	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4945255G>A	uc010qyr.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGTGTGGATGAAGAAGAGCT	0.512000														25			18		0	0	0.000958276	0	0
UGGT2	55757	broad.mit.edu	37	13	96508564	96508564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:96508564C>T	uc001vmt.3	-	33	4026	c.3856G>A	c.(3856-3858)Gga>Aga	p.G1286R	UGGT2_uc001vms.3_Missense_Mutation_p.G6R	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1286	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCGGAATCCATACTCTTTA	0.348000														127			16		0	0	0.000132079	0	0
PADI3	51702	broad.mit.edu	37	1	17597430	17597430	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:17597430G>A	uc001bai.3	+	7	928	c.888G>A	c.(886-888)tgG>tgA	p.W296*		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	296					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCACCCTGGATCATGACGC	0.622000														5			8		0	0	0.000274275	0	0
A2M	2	broad.mit.edu	37	12	9262530	9262530	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:9262530G>A	uc001qvk.1	-	5	719	c.606C>T	c.(604-606)tcC>tcT	p.S202S	A2M_uc009zgk.1_Silent_p.S52S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	202					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCACCTTGTAGGAGCCCTGGA	0.473000														77			41		0	0	0.000270559	0	0
NFASC	23114	broad.mit.edu	37	1	204985601	204985601	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:204985601G>A	uc010prc.2	+	26	3686	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	NFASC_uc001hbj.3_Silent_p.E1219E|NFASC_uc010pra.2_Silent_p.E1153E|NFASC_uc001hbi.3_Silent_p.E1148E|NFASC_uc010prb.2_Silent_p.E1168E|NFASC_uc001hbl.2_Silent_p.E295E|NFASC_uc001hbm.2_Silent_p.E242E|NFASC_uc009xbh.2_Missense_Mutation_p.R74K|NFASC_uc001hbo.2_Missense_Mutation_p.R95K			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1326	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGACAAGGAGGAAACAGAGG	0.562000														34			10		0	0	0.00010058	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659650	24659650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:24659650G>A	uc010tob.1	-	8	2702	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'UTR|TM9SF1_uc001wnb.1_Missense_Mutation_p.P455S|TM9SF1_uc010toa.1_Missense_Mutation_p.P368S|TM9SF1_uc001wnc.3_Missense_Mutation_p.P455S	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	455					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGCTGGGGTGGAATCTCCCGG	0.542000														40			21		0	0	0.000295444	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855689	29855689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:29855689G>A	uc002hgn.1	+	12	1775	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.D414N	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	516	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GTACAAGCTGGACTGCGAGCG	0.652000														13			4		0	0	0.00024832	0	0
ZNF350	59348	broad.mit.edu	37	19	52469330	52469330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:52469330G>A	uc002pyd.3	-	4	604	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	126					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AATATATCATGATTTTGCCCT	0.348000														53			34		0	0	0.000814825	0	0
SCAND3	114821	broad.mit.edu	37	6	28540300	28540300	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28540300C>T	uc003nlo.3	-	3	3984	c.3366G>A	c.(3364-3366)aaG>aaA	p.K1122K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1122					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						aagttgcattcttcccttgca	0.333000														69			27		0	0	0.00106085	0	0
AOX1	316	broad.mit.edu	37	2	201534342	201534342	+	Silent	SNP	C	T	T	rs150685936	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:201534342C>T	uc002uvx.3	+	33	3944	c.3843C>T	c.(3841-3843)ttC>ttT	p.F1281F	AOX1_uc010zhf.2_Silent_p.F837F|AOX1_uc010fsu.3_Silent_p.F647F	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1281					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522000														47			55		0	0	0.000781405	0	0
FREM2	341640	broad.mit.edu	37	13	39265881	39265881	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:39265881G>T	uc001uwv.3	+	0	4709	c.4400G>T	c.(4399-4401)gGt>gTt	p.G1467V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1467					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATGCGAGGTCACCTGGAA	0.483000														35			19		2.37509e-13	2.22192e-12	0.000175454	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149216075	149216075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:149216075C>T	uc003lrc.3	+	7	2148	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	PPARGC1B_uc003lrb.2_Missense_Mutation_p.S686F|PPARGC1B_uc003lrd.3_Missense_Mutation_p.S647F|PPARGC1B_uc021yfr.1_Missense_Mutation_p.S622F|PPARGC1B_uc003lre.1_Missense_Mutation_p.S665F|PPARGC1B_uc003lrf.3_Missense_Mutation_p.S665F	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	686					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGTCCCTTCTCCTGTTCCTTT	0.612000														27			19		0	0	0.000229342	0	0
ARMC4	55130	broad.mit.edu	37	10	28151551	28151551	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:28151551C>T	uc009xky.3	-	18	2709	c.2611_splice	c.e18-1	p.D871_splice	ARMC4_uc010qds.2_Splice_Site_p.D396_splice|ARMC4_uc010qdt.2_Splice_Site_p.D563_splice|ARMC4_uc001itz.3_Splice_Site_p.D871_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	871							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						TCCCCAGCATCCTAGACAAAA	0.358000														16			9		0	0	0.000442599	0	0
ZNF773	374928	broad.mit.edu	37	19	58018621	58018621	+	Silent	SNP	T	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:58018621T>G	uc002qox.3	+	3	1298	c.1158T>G	c.(1156-1158)ccT>ccG	p.P386P	ZNF773_uc002qoy.3_Silent_p.P385P|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		GAGAAAAACCTTTTAAGTGCA	0.423000														60			22		0	0	0.000375601	0	0
DDX60	55601	broad.mit.edu	37	4	169190006	169190007	+	Splice_Site	DNP	CG	AT	AT	rs145361158		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:169190006_169190007CG>AT	uc003irp.3	-	20	3078	c.2786_splice	c.e20+1	p.E929_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	929	Helicase ATP-binding.						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)		AATGCCTACTCGGTGAGATGTT	0.366000														77			6		0	0	6.4e-05	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56043514C>T	uc001nio.1	+	0	400	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000														115			61		0	0	0.000781405	0	0
C5	727	broad.mit.edu	37	9	123739166	123739166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:123739166G>A	uc004bkv.3	-	28	3706	c.3676C>T	c.(3676-3678)Cgt>Tgt	p.R1226C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1226					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTCCAAAAACGATAAATGGGT	0.363000														19			13		0	0	0.000151284	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471479	20471479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20471479G>A	uc010bwe.3	+	2	282	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Missense_Mutation_p.G15S|ACSM2A_uc002dhg.4_Missense_Mutation_p.G15S|ACSM2A_uc010vay.2_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	15					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CACCCTGTGGGGTACTCAGAT	0.498000														27			16		0	0	0.00074312	0	0
ANK3	288	broad.mit.edu	37	10	61865804	61865804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:61865804C>T	uc001jky.3	-	27	3525	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K	ANK3_uc001jkw.3_Missense_Mutation_p.E197K|ANK3_uc009xpa.3_Missense_Mutation_p.E197K|ANK3_uc001jkx.3_Missense_Mutation_p.E241K|ANK3_uc010qih.2_Missense_Mutation_p.E1064K|ANK3_uc001jkz.4_Missense_Mutation_p.E1057K|ANK3_uc001jla.1_Missense_Mutation_p.E129K|ANK3_uc001jlb.1_Missense_Mutation_p.E581K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1063	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGGGATTTCCACTATGACA	0.338000														6			6		0	0	8.12818e-05	0	0
BSG	682	broad.mit.edu	37	19	580426	580426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:580426C>T	uc002loz.3	+	3	718	c.620C>T	c.(619-621)cCc>cTc	p.P207L	BSG_uc002loy.3_Missense_Mutation_p.P27L|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Missense_Mutation_p.P91L|BSG_uc002lpc.3_Missense_Mutation_p.P254L	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	207	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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)		GTCTTCCTCCCCGAGCCCATG	0.657000														14			11		0	0	0.000673444	0	0
KRT25	147183	broad.mit.edu	37	17	38911230	38911230	+	Silent	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:38911230A>G	uc002hve.3	-	0	355	c.294T>C	c.(292-294)caT>caC	p.H98H		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	98	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTCCAGAGCATGCACACTGT	0.547000														68			21		0	0	0.000295444	0	0
OR4K14	122740	broad.mit.edu	37	14	20482945	20482945	+	Silent	SNP	C	T	T	rs77403071	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:20482945C>T	uc010tky.2	-	0	408	c.408G>A	c.(406-408)ttG>ttA	p.L136L		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCAACTCATCAAAGTCATGT	0.478000														28			9		0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152283838	152283838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:152283838C>T	uc001ezu.1	-	2	3560	c.3524G>A	c.(3523-3525)gGa>gAa	p.G1175E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1175	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)			TCCCTGCCTTCCTCCTCTCCT	0.597000									Ichthyosis					140			70		0	0	0.000781405	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808488	38808488	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:38808488C>T	uc001zke.4	-	5	763	c.585G>A	c.(583-585)cgG>cgA	p.R195R	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.R57R|RASGRP1_uc010bbg.3_Silent_p.R57R|RASGRP1_uc001zkd.4_Silent_p.R195R	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	195					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGGAGACTTTCCGTTTCTTGC	0.463000														42			14		0	0	0.000151284	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456097	110456097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:110456097G>A	uc003yne.3	+	36	4861	c.4757G>A	c.(4756-4758)gGa>gAa	p.G1586E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1586	IPT/TIG 8.				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)			ACAATTATTGGACATGGCTTT	0.318000										HNSCC(38;0.096)				76			32		0	0	0.000953801	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967209	142967209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:142967209G>A	uc004fca.3	+	0	37	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	3							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGATGGCCGAGCTGCCCCA	0.433000														13			22		0	0	0.000586117	0	0
MATK	4145	broad.mit.edu	37	19	3778322	3778322	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:3778322C>T	uc002lyt.3	-	13	1783	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*	MATK_uc002lyv.3_Nonsense_Mutation_p.W462*|MATK_uc002lyu.3_Nonsense_Mutation_p.W420*|MATK_uc010dtq.3_Nonsense_Mutation_p.W460*	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	461	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGCCTCCCAGCAGCTGC	0.692000														16			7		0	0	0.000274275	0	0
SORL1	6653	broad.mit.edu	37	11	121429474	121429474	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:121429474C>T	uc001pxx.3	+	19	2967	c.2838C>T	c.(2836-2838)atC>atT	p.I946I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	946					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)		TAGAGCGGATCACGTTCAGTG	0.547000														15			18		0	0	0.000958276	0	0
SAV1	60485	broad.mit.edu	37	14	51107545	51107545	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:51107545G>A	uc001wyh.1	-	3	1211	c.873C>T	c.(871-873)tcC>tcT	p.S291S		NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	291					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTACCAGAAGGGACTGATTTC	0.428000														32			21		0	0	0.000229342	0	0
CUX2	23316	broad.mit.edu	37	12	111779843	111779843	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:111779843G>T	uc001tsa.2	+	20	3799	c.3645G>T	c.(3643-3645)tgG>tgT	p.W1215C		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1215						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						TCATCAACTGGTTCCACAACT	0.622000														29			13		1.5739e-10	1.46814e-09	0.000422831	1	0
ATF6	22926	broad.mit.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161928323C>T	uc001gbs.3	+	15	2009	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	631					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S631L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATCAAAAGTTCGTCAGTTCCT	0.517000														54			26		0	0	0.000586117	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009059	88009059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:88009059G>A	uc022bzq.1	+	0	644	c.644G>A	c.(643-645)gGa>gAa	p.G215E	CPXCR1_uc004efd.4_Missense_Mutation_p.G215E|CPXCR1_uc004efc.4_Missense_Mutation_p.G215E	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	215						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGACATCAGGAAAATTTTGC	0.413000														10			18		0	0	0.000132079	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163507	32163507	+	RNA	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:32163507C>T	uc002ecx.3	-	1		c.264G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		TTTTGCCCTTCGGGGTGATGC	0.542000														30			9		0	0	0.000442599	0	0
DBR1	51163	broad.mit.edu	37	3	137880874	137880874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:137880874C>T	uc003erv.3	-	7	1646	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	DBR1_uc003eru.3_Missense_Mutation_p.E447K|DBR1_uc003ert.3_Missense_Mutation_p.E266K	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	498						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTCCCTGACTCCACAGTCCCA	0.448000														409			134		0	0	0.000781405	0	0
C17orf49	124944	broad.mit.edu	37	17	6919869	6919869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:6919869C>T	uc002ged.3	+	3	987	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	C17orf49_uc002gec.3_Missense_Mutation_p.L92F|C17orf49_uc010vti.2_Missense_Mutation_p.L58F|MIR497HG_uc021tox.1_Intron	NM_001142798	NP_001136270	Q8IXM2	BAP18_HUMAN	Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA.	92					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						TGGCATCCCCCTTCCAGCTGA	0.537000														68			25		0	0	0.000339439	0	0
C6	729	broad.mit.edu	37	5	41181509	41181509	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:41181509G>A	uc003jmk.2	-	6	1089	c.879C>T	c.(877-879)atC>atT	p.I293I	C6_uc003jml.1_Silent_p.I293I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	293	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.I293I(2)		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)				AATTATGGTTGATATTTTCAC	0.358000														57			34		0	0	0.000953801	0	0
GABRG1	2565	broad.mit.edu	37	4	46060580	46060580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:46060580C>T	uc003gxb.3	-	5	837	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	229					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)		TATTTAGGATCAGCCACTTCT	0.348000														26			20		0	0	0.000132079	0	0
FAT4	79633	broad.mit.edu	37	4	126242577	126242577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:126242577C>T	uc003ifj.4	+	0	5011	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1671	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1671C(3)		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						TGTTTCAGTTCGTTGTGAAGA	0.463000														50			40		0	0	0.000374591	0	0
KLHL38	340359	broad.mit.edu	37	8	124659189	124659189	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:124659189G>A	uc003yqs.1	-	1	1440	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	472										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCACTGCAGGGGCACACACGT	0.473000														65			53		0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10348571	10348571	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:10348571T>C	uc002gmn.3	-	35	5389	c.5278A>G	c.(5278-5280)Aag>Gag	p.K1760E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1760					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1759A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGGCCTTCTTGGCCTTCTCC	0.448000														74			30		0	0	0.000409698	0	0
FSHR	2492	broad.mit.edu	37	2	49381507	49381507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:49381507C>T	uc002rww.3	-	0	160	c.50G>A	c.(49-51)gGa>gAa	p.G17E	FSHR_uc010fbn.3_Missense_Mutation_p.G17E|FSHR_uc002rwx.3_Missense_Mutation_p.G17E|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	17					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)	ATGATGACATCCTGAGCCCAA	0.488000									Gonadal Dysgenesis, 46 XX					10			6		0	0	8.12818e-05	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703783	103703783	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:103703783C>T	uc001vpy.4	-	4	1183	c.586_splice	c.e4-1	p.I196_splice		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	196					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGACCCAATCTGAAAAAAAA	0.468000														18			11		0	0	0.00010058	0	0
CRYGB	1419	broad.mit.edu	37	2	209010679	209010679	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:209010679G>C	uc002vcp.4	-	1	104	c.71C>G	c.(70-72)cCc>cGc	p.P24R	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	24	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TTGTAGGTTGGGGCAGTCAGT	0.567000														21			3		0	0	6.4e-05	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017418	100017418	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100017418C>T	uc003uut.3	-	3	365	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Silent_p.E38E|ZCWPW1_uc003uuu.1_Silent_p.E38E|ZCWPW1_uc011kjt.1_Silent_p.E38E|ZCWPW1_uc011kju.1_Silent_p.E38E	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	39							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGGGTCTCCTCCTTAGGGG	0.478000														35			17		0	0	0.000958276	0	0
ZNF582	147948	broad.mit.edu	37	19	56896388	56896389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:56896388_56896389CC>TT	uc002qmy.3	-	4	783_784	c.490_491GG>AA	c.(490-492)gga>AAa	p.G164K	ZNF582_uc002qmz.1_Missense_Mutation_p.G133K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G133E(1)		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)		GTCTGGATTTCCCTGTTGTCTG	0.401000														92			39		0	0	6.4e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100679671	100679671	+	Silent	SNP	C	T	T	rs140736378	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100679671C>T	uc003uxp.1	+	2	5027	c.4974C>T	c.(4972-4974)tcC>tcT	p.S1658S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1658	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAACAGTCCTG	0.488000														197			7		0	0	0.000274275	0	0
ROS1	6098	broad.mit.edu	37	6	117715509	117715509	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:117715509C>T	uc003pxp.1	-	10	1179	c.980_splice	c.e10-1	p.G327_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	327					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)		AACAGATATTCCTAGAAGAGC	0.343000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									25			8		0	0	0.000442599	0	0
PTPN13	5783	broad.mit.edu	37	4	87705706	87705706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:87705706C>T	uc003hpz.3	+	37	6593	c.6113C>T	c.(6112-6114)cCc>cTc	p.P2038L	PTPN13_uc003hpy.3_Missense_Mutation_p.P2043L|PTPN13_uc003hqa.3_Missense_Mutation_p.P2019L|PTPN13_uc003hqb.3_Missense_Mutation_p.P1847L|PTPN13_uc003hqc.1_Missense_Mutation_p.P404L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2038						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTGACTCTGCCCAAAGGTAGT	0.328000														25			13		0	0	0.000308642	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351718	128351718	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:128351718C>T	uc003kuy.3	+	5	1506	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	SLC27A6_uc003kuz.3_Silent_p.F370F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	370					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCATATCTTTCATGAACTACA	0.368000														65			29		0	0	0.000491102	0	0
FAM83H	286077	broad.mit.edu	37	8	144808130	144808130	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:144808130G>A	uc003yzk.3	-	4	3570	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1167					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTTGGGCACGAACTTGCCCA	0.647000														21			7		0	0	0.000442599	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350812	134350812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:134350812C>T	uc003qem.1	-	1	322	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	51						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACCAGGAGGCCACTGACAGCA	0.498000														51			22		0	0	0.000375601	0	0
PLCH1	23007	broad.mit.edu	37	3	155241704	155241704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:155241704G>T	uc021xge.1	-	9	1693	c.1416C>A	c.(1414-1416)tgC>tgA	p.C472*	PLCH1_uc021xgd.1_Nonsense_Mutation_p.C472*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.C454*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	472					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S471Y(1)		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)			GCTTGAATTTGCACTCGTCTT	0.418000														103			37		9.62906e-15	9.03424e-14	0.000228196	1	0
ABRA	137735	broad.mit.edu	37	8	107782322	107782322	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107782322A>T	uc003ymm.4	-	0	151	c.97T>A	c.(97-99)Tgg>Agg	p.W33R		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	33					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)			CACTGCTGCCAACCTCGGGCC	0.637000														33			13		0	0	0.000151284	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390314	61390314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:61390314C>T	uc002ljk.4	+	8	1028	c.857C>T	c.(856-858)cCc>cTc	p.P286L	SERPINB11_uc010xes.2_Missense_Mutation_p.P112L|SERPINB11_uc010dqd.3_Missense_Mutation_p.P173L|SERPINB11_uc002ljj.4_Missense_Mutation_p.P173L|SERPINB11_uc010dqe.3_Missense_Mutation_p.P86L|SERPINB11_uc010dqf.3_Missense_Mutation_p.P85L	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	287					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTACACCTCCCCCGATTCAAA	0.413000														9			6		0	0	0.000157383	0	0
ATP2B2	491	broad.mit.edu	37	3	10400474	10400474	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:10400474G>A	uc003bvt.3	-	13	2476	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	ATP2B2_uc003bvv.3_Silent_p.F634F|ATP2B2_uc003bvw.3_Silent_p.F634F|ATP2B2_uc010hdo.3_Silent_p.F384F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	679					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			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						GGCTGCTGGGGAAGTCGCGGT	0.632000														6			3		0	0	6.4e-05	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366368	7366368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:7366368C>T	uc002ghc.4	-	3	2183	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	ZBTB4_uc002ghd.4_Missense_Mutation_p.E645K	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	645	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		tcctcctcttcgtcctcctcc	0.612000														13			7		0	0	8.12818e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960579	73960579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:73960579C>T	uc004eby.3	-	2	4430	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1271					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						TTGGCATCTTCATAGAGGCCA	0.532000														6			13		0	0	0.000219431	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136274	40136274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:40136274C>T	uc021qgf.1	-	0	1569	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	LRRC4C_uc001mxc.1_Missense_Mutation_p.M519I|LRRC4C_uc001mxd.1_Missense_Mutation_p.M519I|LRRC4C_uc001mxa.1_Missense_Mutation_p.M523I|LRRC4C_uc001mxb.1_Missense_Mutation_p.M519I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	523					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)				TGGTAGTCTTCATGACCTCAT	0.483000														42			17		0	0	0.000566183	0	0
SARDH	1757	broad.mit.edu	37	9	136584083	136584083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:136584083C>T	uc004cep.4	-	6	1131	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SARDH_uc004ceo.3_Missense_Mutation_p.A333T|SARDH_uc011mdo.2_Missense_Mutation_p.A165T|SARDH_uc011mdn.2_Missense_Mutation_p.A333T	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	333					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)		ATGGGGTTGGCCTCATAGCCA	0.572000														21			15		0	0	0.00074312	0	0
DKKL1	27120	broad.mit.edu	37	19	49878174	49878174	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49878174G>A	uc002pnk.3	+	4	832	c.618G>A	c.(616-618)aaG>aaA	p.K206K	DKKL1_uc021uxk.1_Silent_p.K131K|DKKL1_uc021uxl.1_Silent_p.K175K	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	206					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GACTCCGCAAGGGGACCCACA	0.662000														9			4		0	0	0.00024832	0	0
FAM110C	642273	broad.mit.edu	37	2	46017	46017	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:46017C>T	uc010yim.2	-	0	572	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	123						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		AGAGCTTCTTCACCAGGCTTG	0.672000														6			8		0	0	0.000978159	0	0
CSDE1	7812	broad.mit.edu	37	1	115282462	115282463	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:115282462_115282463GG>TT	uc001efi.3	-	3	709_710	c.187_188CC>AA	c.(187-189)cct>AAt	p.P63N	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.P17N|CSDE1_uc001efm.3_Missense_Mutation_p.P63N|CSDE1_uc009wgv.3_Missense_Mutation_p.P17N|CSDE1_uc001efl.3_Missense_Mutation_p.P17N|CSDE1_uc001efn.3_Missense_Mutation_p.P17N	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	17	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AGTACCATTAGGGTACCCATTA	0.371000														376			17		0	0	6.4e-05	0	0
IFT122	55764	broad.mit.edu	37	3	129185821	129185821	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:129185821C>T	uc003eml.3	+	8	1011	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	IFT122_uc003emm.3_Silent_p.L218L|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Silent_p.L68L|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	218					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTTCCACTCTGAAGTCAGC	0.498000														48			27		0	0	0.000720815	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821124	122821124	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:122821124A>G	uc003vkm.3	-	1	156	c.131T>C	c.(130-132)gTc>gCc	p.V44A	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	44			V -> I (in dbSNP:rs28364177).			integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAATGTGGCGACCACAAAGAG	0.428000														58			19		0	0	0.000229342	0	0
SVIL	6840	broad.mit.edu	37	10	29759209	29759209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:29759209C>T	uc001iut.1	-	31	6592	c.5839G>A	c.(5839-5841)Gaa>Aaa	p.E1947K	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E861K|SVIL_uc001iuu.1_Missense_Mutation_p.E1521K	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1947					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTCACTGTTCCTTGATCTTG	0.617000														33			14		0	0	0.000958276	0	0
METTL4	64863	broad.mit.edu	37	18	2567121	2567121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:2567121G>A	uc002klh.4	-	1	875	c.95C>T	c.(94-96)cCt>cTt	p.P32L		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	32					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACGGCAACAAGGTTCATGATG	0.418000														40			14		0	0	0.000219431	0	0
SGCA	6442	broad.mit.edu	37	17	48247705	48247705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48247705G>A	uc002iqi.3	+	6	985	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	317					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGCCGGCGGGAGGGAAGGTG	0.627000														51			22		0	0	0.00047179	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					32			24		0	0	0.000586117	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514777	103514777	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:103514777G>A	uc001vpu.2	+	15	2762	c.2640G>A	c.(2638-2640)gaG>gaA	p.E880E	BIVM-ERCC5_uc010tjb.2_Silent_p.E426E|BIVM-ERCC5_uc001vpw.3_Silent_p.E426E|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.E258E	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	851					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GCTCCACCGAGAACAGTGATG	0.488000														38			19		0	0	0.000295444	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:72553733_72553734GG>TT	uc009ytl.3	-	16	2079_2080	c.1858_1859CC>AA	c.(1858-1860)cca>AAa	p.P620K	FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	620	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000														275			11		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:49416416C>T	uc001rta.4	-	50	16295	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5432	SET.				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	p.R5162Q(1)		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						CACCTCGTTCCGAATGATGGT	0.552000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				108			57		0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130907064	130907064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:130907064C>T	uc001uil.2	-	12	2620	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	802						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AACCTCCGGCCCATGTGATCC	0.547000														12			13		0	0	0.000308642	0	0
EPB42	2038	broad.mit.edu	37	15	43500531	43500531	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:43500531C>T	uc001zrb.4	-	8	1362	c.1062_splice	c.e8-1	p.W354_splice	EPB42_uc001zqz.4_Splice_Site|EPB42_uc001zra.4_Splice_Site_p.W324_splice|EPB42_uc010udm.2_Splice_Site_p.W246_splice	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	324					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCTGGAAGATCCTGAATGCAG	0.512000														25			8		0	0	0.000274275	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220377	130220377	+	Silent	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:130220377A>G	uc004evz.3	+	9	1701	c.1356A>G	c.(1354-1356)agA>agG	p.R452R	ARHGAP36_uc004ewa.3_Silent_p.R440R|ARHGAP36_uc004ewb.3_Silent_p.R421R|ARHGAP36_uc004ewc.3_Silent_p.R316R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	452					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						ATTTTATCAGACGCAGGAACT	0.478000														12			24		0	0	0.000878237	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579468	11579468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:11579468C>T	uc001ash.4	+	7	2084	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	PTCHD2_uc001asi.1_Missense_Mutation_p.A649V	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	649					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)		GACGTGTTTGCCGCTCCCGAG	0.637000														35			23		0	0	0.000878237	0	0
SERPINC1	462	broad.mit.edu	37	1	173880994	173880994	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:173880994G>A	uc001gjt.3	-	2	686	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	189					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGTCCTGGTAGGTCTCATTGA	0.488000														98			47		0	0	0.000781405	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72337037	72337037	+	RNA	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:72337037G>A	uc010lal.1	-	0		c.2619C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GGAGAGAAAGGAACACAGAGA	0.547000														80			27		0	0	0.000227799	0	0
VPS45	11311	broad.mit.edu	37	1	150049229	150049229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:150049229C>T	uc001etp.3	+	5	1069	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.L130F|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.L130F	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	166					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction		p.L165L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACAGCTCTCCTTTTATCTCT	0.398000														36			14		0	0	0.000219431	0	0
HGD	3081	broad.mit.edu	37	3	120347263	120347263	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:120347263G>A	uc003edw.3	-	13	1762	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	HGD_uc003edv.3_Silent_p.F293F	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	434					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTTGGGAGTGAAGTGGCTCT	0.458000														143			46		0	0	0.000781405	0	0
HCN4	10021	broad.mit.edu	37	15	73615254	73615254	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:73615254G>A	uc002avp.3	-	7	4174	c.3180C>T	c.(3178-3180)ccC>ccT	p.P1060P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1060	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGTGGTGGGGGGCTGGATG	0.741000														4			7		0	0	8.12818e-05	0	0
FNDC1	84624	broad.mit.edu	37	6	159692419	159692419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:159692419C>T	uc010kjv.3	+	22	5830	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1877						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)		TTCGGAACCCCCTACTACTAT	0.587000														7			3		0	0	0.000602214	0	0
MYO7A	4647	broad.mit.edu	37	11	76877112	76877112	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:76877112G>A	uc001oyb.2	+	14	1973	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	MYO7A_uc010rsl.2_Silent_p.E567E|MYO7A_uc010rsm.1_Silent_p.E556E|MYO7A_uc001oyc.2_Silent_p.E567E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	567	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTTCCTGGAGAAGAACCGAG	0.552000														7			5		0	0	0.000274275	0	0
ZMAT1	84460	broad.mit.edu	37	X	101153003	101153003	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:101153003C>G	uc011mrl.2	-	4	693	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	ZMAT1_uc004ein.3_5'UTR|ZMAT1_uc011mrm.2_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCACTCCTTCATACCTATGC	0.373000														8			30		0	0	0.000491102	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410901	105410901	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:105410901C>T	uc010axc.1	-	6	11007	c.10887G>A	c.(10885-10887)aaG>aaA	p.K3629K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K3529K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3629						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)			CAGTCACGTCCTTGTCAGCCA	0.597000														91			42		0	0	0.000781405	0	0
HECTD1	25831	broad.mit.edu	37	14	31583155	31583155	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:31583155G>A	uc001wrc.1	-	31	6273	c.5784C>T	c.(5782-5784)caC>caT	p.H1928H	HECTD1_uc001wra.1_Silent_p.H54H|HECTD1_uc001wrb.1_Silent_p.H54H|HECTD1_uc001wrd.1_Silent_p.H1396H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1928					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTAATTTCCAGTGGCGCAGGA	0.388000														34			14		0	0	0.000151284	0	0
FTHL17	53940	broad.mit.edu	37	X	31089818	31089818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:31089818C>T	uc004dcl.1	-	0	353	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	85	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TTCCTGATATCGTGAAGGCAG	0.597000														4			32		0	0	0.00058488	0	0
C12orf44	60673	broad.mit.edu	37	12	52470968	52470968	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:52470968C>T	uc001rzu.4	+	3	1126	c.651C>T	c.(649-651)gcC>gcT	p.A217A	C12orf44_uc009zmd.3_Silent_p.A217A|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	217					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACACCCTTGCCCTCTGAGCGT	0.572000														30			8		0	0	0.000673444	0	0
CDH12	1010	broad.mit.edu	37	5	21975459	21975459	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:21975459C>T	uc010iuc.2	-	2	725	c.267G>A	c.(265-267)gtG>gtA	p.V89V	CDH12_uc011cno.1_Silent_p.V89V|CDH12_uc003jgk.2_Silent_p.V89V	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	89	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGGTGTATTTCACAGTGCCCT	0.458000										HNSCC(59;0.17)				55			22		0	0	0.00047179	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141301106	141301106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:141301106G>A	uc003yvh.2	-	11	2149	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	TRAPPC9_uc003yvj.2_Nonsense_Mutation_p.R614*|TRAPPC9_uc010mel.1_Nonsense_Mutation_p.R35*|TRAPPC9_uc003yvi.1_Nonsense_Mutation_p.R605*	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	614					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTTCAACTCGAAGTTCAAAC	0.373000														32			27		0	0	0.000184323	0	0
NIN	51199	broad.mit.edu	37	14	51224102	51224102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:51224102G>A	uc001wyi.3	-	17	3837	c.3646C>T	c.(3646-3648)Cga>Tga	p.R1216*	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Nonsense_Mutation_p.R1216*|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Nonsense_Mutation_p.R1216*	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1216					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGAAGCTCGATCACAGTCC	0.418000			T	PDGFRB	MPD									63			35		0	0	0.000953801	0	0
MYOM3	127294	broad.mit.edu	37	1	24384090	24384090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:24384090C>T	uc001bin.4	-	36	4241	c.4078G>A	c.(4078-4080)Gga>Aga	p.G1360R	MYOM3_uc001bil.4_Missense_Mutation_p.G253R|MYOM3_uc001bim.4_Missense_Mutation_p.G1017R	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1360	Ig-like C2-type 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)		GTGGGGTCTCCTGAGACGATG	0.517000														33			14		0	0	0.00074312	0	0
TMC1	117531	broad.mit.edu	37	9	75450881	75450881	+	Missense_Mutation	SNP	C	T	T	rs142073640	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:75450881C>T	uc004aiz.1	+	23	2815	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R613C|TMC1_uc010mpa.1_Silent_p.V595V	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	759					sensory perception of sound	integral to membrane		p.G758V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGCTGCTGGTCGCCAGTAATA	0.398000														11			9		0	0	0.000442599	0	0
SHPRH	257218	broad.mit.edu	37	6	146231636	146231636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:146231636G>A	uc003qlf.3	-	24	4862	c.4463C>T	c.(4462-4464)tCg>tTg	p.S1488L	SHPRH_uc003qle.3_Missense_Mutation_p.S1492L|SHPRH_uc003qlg.1_Missense_Mutation_p.S1044L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1488					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AAAGACATACGAGATTTCTTT	0.418000														85			41		0	0	0.000589545	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601987	58601987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:58601987C>T	uc001nnd.4	-	5	931	c.800G>A	c.(799-801)aGc>aAc	p.S267N	GLYATL2_uc009ymq.3_Missense_Mutation_p.S267N	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	267						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGCCTGTAGGCTTTTCTCATT	0.393000														46			19		0	0	0.000132079	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677419	37677419	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:37677419G>A	uc002ofq.3	-	4	1272	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	ZNF585B_uc002ofr.1_Silent_p.N154N	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	340					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)			GTGTAATGAGGTTGGAATTAT	0.398000														19			39		0	0	0.000814825	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606585	13606585	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:13606585C>A	uc003gmz.1	-	9	2056	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	BOD1L1_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	647	Lys-rich.						DNA binding	p.E647*(1)									AATTTGGATTCATTTTTGTTT	0.408000														43			21		1.96292e-10	1.82838e-09	0.000175454	1	0
MSH5	4439	broad.mit.edu	37	6	31727229	31727229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:31727229C>T	uc003nwu.2	+	16	1563	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	MSH5_uc003nwx.2_Missense_Mutation_p.R496C|MSH5_uc003nwv.2_Missense_Mutation_p.R479C|MSH5_uc003nww.2_Missense_Mutation_p.R479C|MSH5_uc011dof.1_Missense_Mutation_p.R178C|MSH5_uc003nwy.1_Missense_Mutation_p.R153C|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	479					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						GCTGCACTATCGTAGTGCCCG	0.522000								Direct reversal of damage;Mismatch excision repair (MMR)						125			78		0	0	0.000781405	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593793	45593793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:45593793G>A	uc003bfv.1	-	7	1265	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	KIAA0930_uc003bfx.1_Missense_Mutation_p.S351F|KIAA0930_uc010gzw.1_Missense_Mutation_p.S203F|KIAA0930_uc003bfw.1_Missense_Mutation_p.S356F|KIAA0930_uc010gzx.2_Missense_Mutation_p.S333F	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCCCGACAGGGACCGAGACCG	0.607000														62			21		0	0	0.00047179	0	0
ISLR	3671	broad.mit.edu	37	15	74468452	74468452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74468452G>A	uc002axg.1	+	1	1535	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ISLR_uc002axh.1_Missense_Mutation_p.S418N|ISLR_uc021sqf.1_Missense_Mutation_p.S418N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	418					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGGGCCAAAGCCTCCTCCTC	0.632000														23			6		0	0	8.12818e-05	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331091	100331092	+	RNA	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:100331091_100331092GG>TT	uc021sxl.1	-	1		c.2061_2062CC>AA			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		CAGAGTAGGCGGGGACAGCAGT	0.520000														38			5		0	0	6.4e-05	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528903	102528903	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:102528903G>A	uc022cbm.1	-	0	589	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	TCEAL5_uc004ejz.2_Nonsense_Mutation_p.Q197*	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 5 (TCEAL5), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Q197K(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AAGTCTTTCTGGCCCCTACCT	0.493000														14			22		0	0	0.000375601	0	0
APP	351	broad.mit.edu	37	21	27372454	27372454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:27372454C>T	uc002ylz.3	-	6	1109	c.909G>A	c.(907-909)atG>atA	p.M303I	APP_uc010glk.3_Missense_Mutation_p.M298I|APP_uc002yma.3_Missense_Mutation_p.M303I|APP_uc011ach.2_Missense_Mutation_p.M247I|APP_uc021whz.1_Missense_Mutation_p.M303I|APP_uc021wia.1_Missense_Mutation_p.M303I|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	303	BPTI/Kunitz inhibitor.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGCGGGAGATCATTGCTCGGC	0.522000														28			5		0	0	8.12818e-05	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222854	118222854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:118222854G>A	uc004era.4	-	10	2339	c.2339C>T	c.(2338-2340)tCc>tTc	p.S780F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	780										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						TGAATCTGAGGAGACTTCTTC	0.473000														10			15		0	0	0.000958276	0	0
CDH4	1002	broad.mit.edu	37	20	60448860	60448860	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:60448860C>T	uc002ybn.2	+	6	1042	c.954C>T	c.(952-954)atC>atT	p.I318I	CDH4_uc002ybr.2_Silent_p.I281I|CDH4_uc002ybp.2_Silent_p.I244I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	318	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.R317Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTACCGGATCGTGACCCAGA	0.607000														19			7		0	0	8.12818e-05	0	0
CHST15	51363	broad.mit.edu	37	10	125771987	125771987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:125771987G>A	uc001lhn.3	-	6	2091	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*	CHST15_uc001lhm.3_Nonsense_Mutation_p.Q453*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	453					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	p.L452P(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGCCCAACCTGGAGCCTCACC	0.493000														10			11		0	0	0.000219431	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036537	21036537	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:21036537G>A	uc010sil.2	+	11	1747	c.1682_splice	c.e11+1	p.K561_splice	SLCO1B3_uc001rek.3_Splice_Site_p.K561_splice|SLCO1B3_uc001rel.3_Splice_Site_p.K561_splice|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	561					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGACTGTGAAGTAAGTATGAT	0.313000														57			26		0	0	0.000878237	0	0
KIF13B	23303	broad.mit.edu	37	8	28988061	28988061	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:28988061G>A	uc003xhh.4	-	23	3123	c.3064C>T	c.(3064-3066)Cag>Tag	p.Q1022*	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1022					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGCCGGAGCTGGAAGATTCCT	0.398000														61			32		0	0	0.00058488	0	0
MAP2K3	5606	broad.mit.edu	37	17	21208386	21208386	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:21208386G>A	uc002gys.3	+	8	985	c.720G>A	c.(718-720)ctG>ctA	p.L240L	MAP2K3_uc002gyt.3_Silent_p.L211L|MAP2K3_uc021tsq.1_Silent_p.L211L|MAP2K3_uc021tsr.1_Silent_p.L211L	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	240	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCCAGAGCTGAACCAGAAGG	0.632000														63			8		0	0	0.000442599	0	0
CPNE4	131034	broad.mit.edu	37	3	131261629	131261629	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:131261629G>A	uc011blq.2	-	14	1475	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	CPNE4_uc003eok.3_Silent_p.F437F|CPNE4_uc003eol.3_Silent_p.F455F|CPNE4_uc003eom.3_Silent_p.F437F|CPNE4_uc003eoj.3_5'UTR	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	437	VWFA.							p.R454Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGCAGGATGAAGTATTGCT	0.552000														21			17		0	0	0.000132079	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692897	100692897	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:100692897G>A	uc002bvv.1	-	9	1472	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	ADAMTS17_uc002bvx.1_Silent_p.L222L	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	465	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATGCCCGGCAGCTTGTGCGGG	0.577000														34			28		0	0	0.00106085	0	0
UNC13C	440279	broad.mit.edu	37	15	54556488	54556488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:54556488G>A	uc021smr.1	+	6	3565	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	UNC13C_uc021sms.1_Missense_Mutation_p.E1191K|UNC13C_uc002acl.3_Missense_Mutation_p.E21K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1191					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)		AGTAATCCAGGAAATGTTTCA	0.398000														5			10		0	0	0.000442599	0	0
TSR2	90121	broad.mit.edu	37	X	54469871	54469871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:54469871G>A	uc004dte.3	+	2	213	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TSR2_uc004dtf.3_5'UTR	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	71					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						CTTCCTTGGAGAGCTGTTGAC	0.527000														19			31		0	0	0.000814825	0	0
NBPF1	55672	broad.mit.edu	37	1	16893772	16893772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:16893772G>A	uc009vos.1	-	24	3629	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NBPF1_uc009vot.1_Missense_Mutation_p.P372L|NBPF1_uc001ayz.1_Missense_Mutation_p.P372L|NBPF1_uc010oce.1_Missense_Mutation_p.P643L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	914	NBPF 5.					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)		ATAACCTGAAGGAGTTGAATA	0.483000														792			23		0	0	0.000720815	0	0
OXR1	55074	broad.mit.edu	37	8	107718972	107718972	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107718972T>C	uc011lht.2	+	7	1325	c.1226T>C	c.(1225-1227)tTa>tCa	p.L409S	OXR1_uc022azp.1_Missense_Mutation_p.L408S|OXR1_uc003ymf.3_Missense_Mutation_p.L408S|OXR1_uc011lhu.2_Missense_Mutation_p.L401S|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L106S|OXR1_uc003ymg.1_Missense_Mutation_p.L341S|OXR1_uc003ymi.1_Missense_Mutation_p.L320S	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	409					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTGGGACTTTATGTCATAAA	0.363000														53			18		0	0	0.000958276	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	891	891	+	RNA	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrGL000237.1:891A>G	uc011mgu.1	-	1		c.327T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		acaaccgcagaagatgaatca	0.582000														27			4		0	0	3.59834e-05	0	0
USP31	57478	broad.mit.edu	37	16	23079890	23079890	+	Missense_Mutation	SNP	G	A	A	rs143300021		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:23079890G>A	uc002dll.3	-	15	3536	c.3536C>T	c.(3535-3537)cCt>cTt	p.P1179L	USP31_uc002dlk.3_Missense_Mutation_p.P451L|USP31_uc010vca.2_Missense_Mutation_p.P482L|USP31_uc010bxm.3_Missense_Mutation_p.P467L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1179	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P1179L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTCACCCGAGGGGAATTGGG	0.642000														15			13		0	0	0.000151284	0	0
POLN	353497	broad.mit.edu	37	4	2077206	2077206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:2077206C>T	uc003ger.2	-	21	2440	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	POLN_uc010icg.1_Missense_Mutation_p.E258K	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	810					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGCGGATCTTCCACTTCAAAC	0.622000								DNA polymerases (catalytic subunits)						13			9		0	0	0.000442599	0	0
TFEC	22797	broad.mit.edu	37	7	115614255	115614256	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:115614255_115614256CC>TT	uc003vhj.2	-	2	488_489	c.235_236GG>AA	c.(235-237)gga>AAa	p.G79K	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.G169K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	79	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AGAGTCTGCTCCTTCCTCTTTA	0.327000														38			15		0	0	6.4e-05	0	0
CPT1C	126129	broad.mit.edu	37	19	50210789	50210789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:50210789C>T	uc010eng.3	+	12	1674	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	CPT1C_uc002ppl.4_Missense_Mutation_p.S419F|CPT1C_uc002ppi.3_Missense_Mutation_p.S370F|CPT1C_uc002ppk.3_Missense_Mutation_p.S442F|CPT1C_uc010enh.3_Missense_Mutation_p.S453F|CPT1C_uc002ppj.3_Missense_Mutation_p.S453F|CPT1C_uc010ybc.1_Missense_Mutation_p.S324F|CPT1C_uc010eni.1_Missense_Mutation_p.S110F	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	453					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTTGACAAATCCTTCACCCTA	0.587000														41			17		0	0	0.00074312	0	0
SMAP2	64744	broad.mit.edu	37	1	40882506	40882506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:40882506C>T	uc001cfj.3	+	8	1317	c.902C>T	c.(901-903)cCc>cTc	p.P301L	SMAP2_uc001cfk.3_Missense_Mutation_p.P271L|SMAP2_uc021oma.1_Missense_Mutation_p.P296L|SMAP2_uc010oji.2_Missense_Mutation_p.P221L|SMAP2_uc010ojj.2_Missense_Mutation_p.P117L	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	301	Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCCAGCTTCCCCGGGGTTACA	0.542000														18			12		0	0	0.000978159	0	0
OR51A4	401666	broad.mit.edu	37	11	4967799	4967799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4967799G>A	uc010qys.2	-	0	532	c.532C>T	c.(532-534)Cat>Tat	p.H178Y		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S177S(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTAGGAATGGGATAATTGG	0.408000														98			28		0	0	0.000409698	0	0
OR4C11	219429	broad.mit.edu	37	11	55371012	55371012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55371012G>A	uc010rii.2	-	0	863	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	280					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						AGTGGATTGAGAAAGGGTGTT	0.393000														32			15		0	0	0.000422831	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489030	123489030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:123489030G>A	uc001uej.1	-	6	1158	c.959C>T	c.(958-960)cCt>cTt	p.P320L	PITPNM2_uc001uek.1_Missense_Mutation_p.P320L|PITPNM2_uc009zxu.1_Missense_Mutation_p.P320L	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	320					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGCGGGAAGGACTCGCTGG	0.617000														14			7		0	0	0.000274275	0	0
COL5A3	50509	broad.mit.edu	37	19	10091339	10091339	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10091339C>T	uc002mmq.1	-	34	2675	c.2589G>A	c.(2587-2589)ggG>ggA	p.G863G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	863	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P862T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCAGGGATCCCAGGGGCTC	0.527000														9			5		0	0	8.12818e-05	0	0
SOX7	83595	broad.mit.edu	37	8	10583750	10583750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:10583750G>A	uc011kwz.2	-	5	854	c.821C>T	c.(820-822)tCc>tTc	p.S274F	SOX7_uc003wtf.3_Missense_Mutation_p.S222F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	222	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGCAGGGGGAGGAGAAGAA	0.672000														23			11		0	0	0.000219431	0	0
HERC2	8924	broad.mit.edu	37	15	28358292	28358292	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:28358292G>A	uc001zbj.3	-	91	14263	c.14157C>T	c.(14155-14157)ttC>ttT	p.F4719F	HERC2_uc001zbi.3_Silent_p.F408F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4719	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGAAGCGAAGGAAAAGAGAGC	0.622000														22			6		0	0	3.59834e-05	0	0
KLF12	11278	broad.mit.edu	37	13	74420329	74420329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:74420329G>A	uc001vjf.3	-	3	527	c.305C>T	c.(304-306)tCc>tTc	p.S102F	KLF12_uc010aeq.3_Missense_Mutation_p.S102F|KLF12_uc001vjg.3_Missense_Mutation_p.S102F	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	102					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGCTGTCATGGAAACTGGGGA	0.468000														27			19		0	0	0.000175454	0	0
TTC7B	145567	broad.mit.edu	37	14	91059907	91059907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:91059907G>A	uc001xyp.3	-	17	2152	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	TTC7B_uc001xyo.3_Missense_Mutation_p.S121L|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	677							binding	p.A676S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTGCAGAGACGAAGCCACTTC	0.602000														38			13		0	0	0.00010058	0	0
SKIL	6498	broad.mit.edu	37	3	170108124	170108124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:170108124C>T	uc003fgu.3	+	4	2255	c.1543C>T	c.(1543-1545)Ccg>Tcg	p.P515S	SKIL_uc011bps.2_Missense_Mutation_p.P495S|SKIL_uc003fgv.3_Missense_Mutation_p.P469S|SKIL_uc003fgw.3_Missense_Mutation_p.P515S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	515					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGCTTCATCTCCGCTTCTTGT	0.363000														74			18		0	0	0.000175454	0	0
FRMD4B	23150	broad.mit.edu	37	3	69247890	69247890	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:69247890G>A	uc003dnv.2	-	11	1202	c.912C>T	c.(910-912)ttC>ttT	p.F304F	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Silent_p.F250F|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Silent_p.F148F	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	304	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTTCTCACGGAAATATAAGT	0.338000														12			5		0	0	3.59834e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	20975472	20975472	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20975472A>G	uc010vbe.2	-	52	9734	c.9734T>C	c.(9733-9735)gTt>gCt	p.V3245A	DNAH3_uc010vbd.2_Missense_Mutation_p.V680A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3245	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGGAGAGAACCTCCAAGAT	0.438000														77			40		0	0	0.000374591	0	0
MUC16	94025	broad.mit.edu	37	19	9075170	9075170	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9075170G>A	uc002mkp.3	-	2	12480	c.12276C>T	c.(12274-12276)atC>atT	p.I4092I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4094	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATAGCAAGGATCATTCCTC	0.527000														30			16		0	0	0.000308642	0	0
ZNF347	84671	broad.mit.edu	37	19	53645150	53645150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:53645150G>A	uc002qbc.2	-	4	1361	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	ZNF347_uc002qbb.2_Missense_Mutation_p.H311Y|ZNF347_uc010eql.2_Missense_Mutation_p.H312Y	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCGCCAGTATGGATCACCTGA	0.388000														78			52		0	0	0.000781405	0	0
RPH3A	22895	broad.mit.edu	37	12	113314479	113314479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:113314479C>T	uc010syl.2	+	12	1341	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RPH3A_uc001ttz.3_Missense_Mutation_p.P327S|RPH3A_uc001tty.3_Missense_Mutation_p.P323S|RPH3A_uc009zwe.1_Missense_Mutation_p.P323S|RPH3A_uc010sym.2_Missense_Mutation_p.P278S|RPH3A_uc001tua.3_Missense_Mutation_p.P87S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	327	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.P323S(1)|p.E326Q(1)		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)		GACCACTGCCCCACCCCGAGA	0.612000														9			4		0	0	0.00024832	0	0
APLP1	333	broad.mit.edu	37	19	36368622	36368622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:36368622G>A	uc002oce.3	+	11	1585	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	APLP1_uc010xsz.2_Missense_Mutation_p.E444K|APLP1_uc002ocf.3_Missense_Mutation_p.E483K|APLP1_uc002ocg.3_Missense_Mutation_p.E386K|APLP1_uc010xta.2_Missense_Mutation_p.E477K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	483					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCTCAGAGGAACTCCTCCA	0.597000														28			13		0	0	0.00010058	0	0
MAK	4117	broad.mit.edu	37	6	10764725	10764725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:10764725C>T	uc021ylk.1	-	14	2189	c.1907G>A	c.(1906-1908)gGg>gAg	p.G636E	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.G611E|MAK_uc021yll.1_Missense_Mutation_p.G571E	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	611					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GTCTGTCCTCCCATGCACTGA	0.502000														24			13		0	0	0.000151284	0	0
CD1A	909	broad.mit.edu	37	1	158226856	158226856	+	Splice_Site	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:158226856T>C	uc001frt.3	+	4	1416	c.883_splice	c.e4+2	p.E295_splice	CD1A_uc021pbk.1_Splice_Site	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	295					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTACTGGGGTGAGAAAAAGC	0.567000														14			6		0	0	0.000157383	0	0
PODN	127435	broad.mit.edu	37	1	53535824	53535824	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:53535824C>T	uc001cuv.3	+	1	609	c.441C>T	c.(439-441)aaC>aaT	p.N147N	PODN_uc010onr.2_Silent_p.N128N|PODN_uc010ons.2_Silent_p.N147N|PODN_uc001cuw.3_Silent_p.N128N	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	99					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACACCAACCACCTATCTC	0.627000														23			15		0	0	0.000132079	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251385	25251385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:25251385G>A	uc002dod.4	-	6	3063	c.2656C>T	c.(2656-2658)Ccc>Tcc	p.P886S	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.P682S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	886					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATTTGTAGGGATTCTCCCCA	0.483000														33			17		0	0	0.000958276	0	0
REG1B	5968	broad.mit.edu	37	2	79313602	79313602	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:79313602T>C	uc002sny.2	-	3	324	c.212A>G	c.(211-213)aAc>aGc	p.N71S	REG1B_uc010ffv.1_Missense_Mutation_p.N71S|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	71	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGACACCAGGTTGCCTGAATT	0.517000														26			14		0	0	0.000422831	0	0
PCDH15	65217	broad.mit.edu	37	10	55583013	55583013	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:55583013C>T	uc010qhy.1	-	34	4889	c.4494G>A	c.(4492-4494)gaG>gaA	p.E1498E	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.E1493E|PCDH15_uc021pqz.1_Silent_p.E1468E|PCDH15_uc010qhv.1_Silent_p.E1488E|PCDH15_uc010qhw.1_Silent_p.E1451E|PCDH15_uc010qhx.1_Silent_p.E1422E|PCDH15_uc010qhz.1_Silent_p.E1493E|PCDH15_uc010qia.1_Silent_p.E1471E|PCDH15_uc001jju.1_Silent_p.E1491E|PCDH15_uc010qib.1_Silent_p.E1468E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1491					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTGTGAGCCTCAATAGTAT	0.408000										HNSCC(58;0.16)				15			23		0	0	0.000375601	0	0
MUC16	94025	broad.mit.edu	37	19	9087932	9087932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9087932C>T	uc002mkp.3	-	0	4087	c.3883G>A	c.(3883-3885)Gcc>Acc	p.A1295T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1295	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						GCCATTCTGGCTGTTGATACA	0.493000														55			29		0	0	0.000878237	0	0
C6orf10	10665	broad.mit.edu	37	6	32261331	32261331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:32261331C>T	uc021yvt.1	-	22	1292	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	C6orf10_uc011dpx.2_Missense_Mutation_p.M364I|C6orf10_uc021yvs.1_Missense_Mutation_p.M290I|C6orf10_uc011dpz.2_Missense_Mutation_p.M371I|C6orf10_uc021yvu.1_Missense_Mutation_p.M371I|C6orf10_uc021yvv.1_Missense_Mutation_p.M357I	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	373						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGCACACCCATCTCACTCT	0.493000														83			29		0	0	0.000339439	0	0
CNTN6	27255	broad.mit.edu	37	3	1424998	1424998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:1424998G>A	uc003boz.3	+	18	2690	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	CNTN6_uc011asj.2_Missense_Mutation_p.G736E|CNTN6_uc003bpa.3_Missense_Mutation_p.G808E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	808	Fibronectin type-III 3.				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)		GCCCCAAGGGGAACTTCTCTC	0.438000														53			65		0	0	0.000781405	0	0
UPK1B	7348	broad.mit.edu	37	3	118906807	118906807	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:118906807G>A	uc003ecc.3	+	2	344	c.255G>A	c.(253-255)agG>agA	p.R85R	UPK1B_uc011bix.2_Silent_p.R5R|UPK1B_uc003ecd.3_Silent_p.R85R	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	85					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGTCCAGCAGGAAAATTCTTC	0.468000														51			42		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209387	140209387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140209387G>A	uc003lho.2	+	0	1738	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	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_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.G571S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	584	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCGGGTGGGTGGTACTGG	0.692000														47			23		0	0	0.000295444	0	0
FAM3D	131177	broad.mit.edu	37	3	58622930	58622930	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:58622930G>A	uc003dkq.3	-	7	693	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	132					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)		TTTCTTTAAGGAATTTCACTA	0.512000														6			5		0	0	0.000602214	0	0
BIRC7	79444	broad.mit.edu	37	20	61870928	61870928	+	Missense_Mutation	SNP	C	T	T	rs148392338		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:61870928C>T	uc002yej.3	+	5	1041	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Missense_Mutation_p.R272C	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	290					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding	p.V289I(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCCCCCGTCCGCAGCCGCGT	0.731000														13			5		0	0	0.000602214	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551747	1551747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:1551747C>T	uc010gai.3	-	3	887	c.788G>A	c.(787-789)aGg>aAg	p.R263K	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	263	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R263K(2)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTTCTCTGCCCTCATGGGCTG	0.542000														18			15		0	0	0.000132079	0	0
AGTR1	185	broad.mit.edu	37	3	148458955	148458955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:148458955G>A	uc003ewg.3	+	3	579	c.133G>A	c.(133-135)Gga>Aga	p.G45R	AGTR1_uc003ewh.3_Missense_Mutation_p.G45R|AGTR1_uc003ewi.3_Missense_Mutation_p.G45R|AGTR1_uc003ewj.3_Missense_Mutation_p.G45R|AGTR1_uc003ewk.3_Missense_Mutation_p.G45R|AGTR1_uc021xfj.1_Missense_Mutation_p.G45R	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	45					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.G45A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGGAATATTTGGAAACAGCTT	0.353000														99			26		0	0	0.00106085	0	0
SLC2A2	6514	broad.mit.edu	37	3	170727809	170727809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:170727809G>A	uc003fhe.1	-	3	743	c.434C>T	c.(433-435)tCa>tTa	p.S145L	SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Missense_Mutation_p.S18L	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	145					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCCCAATTTTGAAAACCCCAT	0.368000														47			59		0	0	0.000781405	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433395	140433395	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140433395C>T	uc003lik.1	+	0	2417	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	780					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)			ACTTCCCTTTCCCTCATGCCA	0.468000														70			34		0	0	0.000692331	0	0
OR4K17	390436	broad.mit.edu	37	14	20585694	20585694	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:20585694C>T	uc001vwo.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTCAGAATTCATTTTGCTGG	0.423000														79			49		0	0	0.000781405	0	0
C12orf66	144577	broad.mit.edu	37	12	64588117	64588117	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:64588117C>T	uc001srw.4	-	2	902	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	281										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTGAAGCAGTCGTTTGTCGGC	0.428000														55			27		0	0	0.00106085	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188982	11188982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:11188982C>T	uc003wtp.1	+	0	488	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	123	DUF6 1.					integral to membrane											CAGTGCAGTTCAGGTGGTGCC	0.627000														66			30		0	0	0.000227799	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725829	140725829	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140725829G>A	uc003ljm.2	+	0	2229	c.2229G>A	c.(2227-2229)gcG>gcA	p.A743A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.A743A	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	753					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)			TTGTGGGCGCGGACGGGGTTC	0.667000														25			11		0	0	0.000673444	0	0
S1PR3	1903	broad.mit.edu	37	9	91616628	91616628	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:91616628G>A	uc022bjm.1	+	0	513	c.513G>A	c.(511-513)ctG>ctA	p.L171L	S1PR3_uc004aqe.3_Silent_p.L171L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	171					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.A170A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGGGCGCCCTGCCCATTCTGG	0.552000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			11		0	0	0.000219431	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834343	125834343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:125834343G>A	uc001uhe.1	+	1	406	c.398G>A	c.(397-399)aGa>aAa	p.R133K	TMEM132B_uc021rgl.1_Missense_Mutation_p.R23K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	133						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)		TACTCCAACAGACCCAAAGTG	0.468000														65			42		0	0	0.000509022	0	0
ZNF41	7592	broad.mit.edu	37	X	47308213	47308213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:47308213C>T	uc004dhs.4	-	3	1149	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N	ZNF41_uc004dhu.4_Missense_Mutation_p.S353N|ZNF41_uc004dht.4_Missense_Mutation_p.S233N|ZNF41_uc004dhv.4_Missense_Mutation_p.S329N|ZNF41_uc004dhw.4_Missense_Mutation_p.S321N|ZNF41_uc004dhy.4_Missense_Mutation_p.S319N|ZNF41_uc004dhx.4_Missense_Mutation_p.S319N|ZNF41_uc011mlm.2_Missense_Mutation_p.S233N	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G361*(1)|p.G361V(1)|p.G361L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTATAAACACTTGGATGTAC	0.418000														13			19		0	0	0.000175454	0	0
CCNB3	85417	broad.mit.edu	37	X	50053944	50053944	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:50053944C>T	uc004dox.4	+	5	3073	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	CCNB3_uc004doy.3_Silent_p.V925V|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	925					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATGAGGCAGTCCTCTTCGAAG	0.468000														13			34		0	0	0.000814825	0	0
VEGFC	7424	broad.mit.edu	37	4	177632734	177632734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:177632734G>A	uc003ius.1	-	3	1053	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	208					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCATCGGCAGGAAGTGTGATT	0.393000														108			41		0	0	0.000781405	0	0
CFH	3075	broad.mit.edu	37	1	196705994	196705994	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:196705994C>T	uc001gtj.4	+	15	2694	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	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.	818	Sushi 14.				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						CTCAGATTCCCAATTCTCACA	0.274000														30			27		0	0	0.000409698	0	0
AADAC	13	broad.mit.edu	37	3	151545805	151545805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:151545805G>A	uc003eze.3	+	4	1135	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	349					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGAGATGATGGACTCATGTA	0.458000														76			26		0	0	0.000586117	0	0
MAPK4	5596	broad.mit.edu	37	18	48190637	48190637	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:48190637C>T	uc002lev.3	+	1	1309	c.309C>T	c.(307-309)atC>atT	p.I103I	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.I103I	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	103	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGGCGTACATCGTCCAGGAGT	0.617000														33			14		0	0	0.000219431	0	0
SORCS3	22986	broad.mit.edu	37	10	106974277	106974277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:106974277G>A	uc001kyi.1	+	17	2680	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	818						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTGCCCTGGAAAAGCCCCT	0.552000														13			7		0	0	8.12818e-05	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050203	42050203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:42050203G>A	uc001cgz.4	-	3	1479	c.266C>T	c.(265-267)tCc>tTc	p.S89F	HIVEP3_uc001cha.4_Missense_Mutation_p.S89F|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.	89					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)				GATGTGGACGGATGCTTCGAT	0.607000														103			37		0	0	0.000509022	0	0
ZNF443	10224	broad.mit.edu	37	19	12542018	12542018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:12542018G>A	uc002mtu.3	-	3	1166	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	323					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTTTGAAGGGAACCGGAAAC	0.433000														64			32		0	0	0.000339439	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008508	32008508	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:32008508G>A	uc003nze.2	+	8	1289	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	CYP21A2_uc003nzf.2_Silent_p.L364L	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	393					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCGCCCACCTGGATGAGACGG	0.647000														80			9		0	0	0.000878237	0	0
UPK1B	7348	broad.mit.edu	37	3	118913189	118913189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:118913189G>A	uc003ecc.3	+	5	681	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	UPK1B_uc011bix.2_Missense_Mutation_p.E118K|UPK1B_uc003ecd.3_Missense_Mutation_p.E190K	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	198					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAATCTTAAAGAACCTCTCAA	0.478000														109			36		0	0	0.000319135	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858587	9858587	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:9858587C>T	uc010uym.2	-	13	3124	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	GRIN2A_uc002czo.4_Silent_p.K938K|GRIN2A_uc010uyn.2_Silent_p.K781K|GRIN2A_uc002czr.4_Silent_p.K938K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	938					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAATTCCCCTTATCTGAAA	0.463000														81			43		0	0	0.000781405	0	0
AUTS2	26053	broad.mit.edu	37	7	70246654	70246654	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:70246654C>T	uc003tvw.4	+	14	2793	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	AUTS2_uc003tvx.4_Silent_p.F662F|AUTS2_uc011keg.2_Silent_p.F138F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	686										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AACCTGAGTTCCTGAGCCGCC	0.562000														52			31		0	0	0.00058488	0	0
C1orf129	80133	broad.mit.edu	37	1	170934334	170934334	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:170934334G>T	uc010plz.2	+	6	572	c.418G>T	c.(418-420)Gag>Tag	p.E140*	C1orf129_uc001ghg.3_Nonsense_Mutation_p.E140*|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	140							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATATCTGCAAGAGAGAATAAT	0.358000														74			56		2.26907e-38	2.13511e-37	0.000781405	1	0
IL29	282618	broad.mit.edu	37	19	39787462	39787462	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:39787462G>A	uc002okv.3	+	1	286	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	63					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACTCAAGCTGAAAAACTGGA	0.562000														14			26		0	0	0.000878237	0	0
SCN11A	11280	broad.mit.edu	37	3	38889116	38889116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:38889116C>T	uc021wvy.1	-	25	4644	c.4445G>A	c.(4444-4446)gGa>gAa	p.G1482E		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1482					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)	AGTCCTGATTCCTCGTGCAGC	0.488000														12			10		0	0	0.000978159	0	0
NRK	203447	broad.mit.edu	37	X	105168761	105168761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:105168761G>A	uc004emd.3	+	18	3353	c.3050G>A	c.(3049-3051)aGa>aAa	p.R1017K	NRK_uc010npc.1_Missense_Mutation_p.R685K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1017							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGCCTACAGAGGCTATGGA	0.473000										HNSCC(51;0.14)				3			3		0	0	6.4e-05	0	0
ZNF454	285676	broad.mit.edu	37	5	178392043	178392043	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178392043A>T	uc003mjo.2	+	4	939	c.638A>T	c.(637-639)gAg>gTg	p.E213V	ZNF454_uc010jkz.2_Missense_Mutation_p.E213V|ZNF454_uc021yjc.1_Missense_Mutation_p.E213V	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E213*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CATATTAAGGAGAAAAGATAT	0.348000														43			27		0	0	0.000720815	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75097441G>A	uc001dgg.3	-	6	994	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_uc001dgi.4_Missense_Mutation_p.R53C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	259	Poly-Arg.							p.R259H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000														44			16		0	0	0.000566183	0	0
ZNF66	0	broad.mit.edu	37	19	20959171	20959171	+	RNA	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:20959171G>A	uc002npe.3	+	0		c.62G>A								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		TCTTCTCCTAGAGGCCCAGCC	0.587000														23			8		0	0	0.000157383	0	0
NPW	283869	broad.mit.edu	37	16	2070553	2070553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2070553C>T	uc002coh.4	+	1	813	c.431C>T	c.(430-432)tCc>tTc	p.S144F	TCRBV20S1_uc021tak.1_Intron	NM_001099456	NP_001092926	Q8N729	NPW_HUMAN	Homo sapiens neuropeptide W (NPW), mRNA.	144					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						AGAGACGTCTCCCGCCCAGCG	0.731000														16			12		0	0	0.000308642	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384691	39384691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:39384691C>T	uc010oio.1	-	1	438	c.434G>A	c.(433-435)aGa>aAa	p.R145K	RHBDL2_uc010oin.1_Missense_Mutation_p.R65K|RHBDL2_uc001ccu.1_Missense_Mutation_p.R65K|RHBDL2_uc001ccv.3_Missense_Mutation_p.R65K	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	65					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GCAGTTAGCTCTCTCCAAGTA	0.567000														41			20		0	0	0.000229342	0	0
C1orf168	199920	broad.mit.edu	37	1	57209867	57209867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:57209867G>A	uc001cym.4	-	9	1866	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	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.	487										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						TATCTCCTCCGAGATGGAACT	0.418000														70			29		0	0	0.000491102	0	0
KDR	3791	broad.mit.edu	37	4	55964962	55964962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:55964962C>T	uc003has.3	-	15	2577	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	KDR_uc003hat.1_Missense_Mutation_p.E759K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	759					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				31			14		0	0	0.000219431	0	0
PAK6	56924	broad.mit.edu	37	15	40564469	40564469	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:40564469C>T	uc010bbl.3	+	5	1343	c.903C>T	c.(901-903)agC>agT	p.S301S	PAK6_uc010bbm.3_Silent_p.S301S|PAK6_uc001zky.4_Silent_p.S301S|PAK6_uc010bbn.3_Silent_p.S301S|PAK6_uc001zlb.3_Silent_p.S301S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	301	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)		ACCCCCCAAGCCTGGTGGCCA	0.622000														47			21		0	0	0.000229342	0	0
LOC284100	284100	broad.mit.edu	37	17	36214086	36214086	+	RNA	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:36214086C>T	uc002hom.1	-	2		c.231G>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.											endometrium(6)|kidney(1)	7						CCTGTCATTTCCTGTGGCAAA	0.388000														16			7		0	0	0.000274275	0	0
ROBO1	6091	broad.mit.edu	37	3	78655977	78655978	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:78655977_78655978GG>TT	uc003dqe.2	-	28	4857_4858	c.4649_4650CC>AA	c.(4648-4650)ccc>cAA	p.P1550Q	ROBO1_uc003dqc.2_Missense_Mutation_p.P1450Q|ROBO1_uc003dqd.2_Missense_Mutation_p.P1505Q|ROBO1_uc003dqb.2_Missense_Mutation_p.P1511Q|ROBO1_uc010hoh.2_Missense_Mutation_p.P742Q|ROBO1_uc011bgl.1_Missense_Mutation_p.P1122Q	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1550					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.P1554P(1)|p.P1527P(1)|p.P1550P(1)|p.P1505P(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGCTTCTCTGGGATCACCTGG	0.475000														396			19		0	0	6.4e-05	0	0
ZNF568	374900	broad.mit.edu	37	19	37413675	37413675	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:37413675G>T	uc002ofc.3	+	2	521	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF568_uc010efg.3_Missense_Mutation_p.M1I|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.M1I|ZNF568_uc002ofd.3_Intron|ZNF568_uc010efe.3_Intron|ZNF568_uc010eff.2_5'UTR	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTCTGAATGACATCTCAAT	0.527000														25			12		2.27111e-07	2.10632e-06	0.00010058	1	0
CD163	9332	broad.mit.edu	37	12	7649645	7649645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:7649645C>T	uc001qsz.3	-	4	991	c.863G>A	c.(862-864)gGg>gAg	p.G288E	CD163_uc001qta.3_Missense_Mutation_p.G288E|CD163_uc009zfw.2_Missense_Mutation_p.G288E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	288	SRCR 3.				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						ACATATTGTCCCCCATTCTCC	0.507000														42			24		0	0	0.000586117	0	0
GABRR1	2569	broad.mit.edu	37	6	89891703	89891703	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:89891703G>A	uc003pna.2	-	7	1325	c.870C>T	c.(868-870)ttC>ttT	p.F290F	GABRR1_uc011dzv.1_Silent_p.F267F	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	290					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGGTAGCGGGGAAATAAGTTT	0.517000														74			25		0	0	0.000720815	0	0
SOGA2	23255	broad.mit.edu	37	18	8784805	8784805	+	Silent	SNP	C	T	T	rs138194834		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:8784805C>T	uc002knr.2	+	5	1837	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	SOGA2_uc002knq.2_Silent_p.I565I|SOGA2_uc010dkw.1_Silent_p.I403I	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	916																	ACTCCCCCATCGGGAACCTGG	0.632000														15			5		0	0	3.59834e-05	0	0
COL24A1	255631	broad.mit.edu	37	1	86515855	86515855	+	Silent	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:86515855A>G	uc001dlj.3	-	10	1932	c.1857T>C	c.(1855-1857)ttT>ttC	p.F619F	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.F619F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	619					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)		GAGAGCCAATAAAACCCTTAA	0.343000														65			26		0	0	0.000339439	0	0
IFT140	9742	broad.mit.edu	37	16	1652443	1652443	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:1652443G>A	uc002cmb.3	-	3	659	c.297C>T	c.(295-297)ccC>ccT	p.P99P		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	99										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGTGTCAGGGGCATCGTGT	0.617000														18			8		0	0	0.000157383	0	0
TMEM184B	25829	broad.mit.edu	37	22	38617542	38617542	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:38617542G>A	uc003avf.1	-	8	1382	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	TMEM184B_uc003avh.2_Silent_p.S320S|TMEM184B_uc003avg.2_Silent_p.S386S|TMEM184B_uc021wpo.1_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	386						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGAGGCTGTGGGAGCGGGAGA	0.647000														21			11		0	0	0.000151284	0	0
C10orf71	118461	broad.mit.edu	37	10	50532056	50532056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:50532056G>A	uc021pqb.1	+	0	1466	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	C10orf71_uc021pqa.1_Missense_Mutation_p.R488Q|C10orf71_uc021pqc.1_Missense_Mutation_p.R489Q	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	489								p.R489Q(1)		endometrium(1)	1						TGTCAGTCTCGAGACAGCTAC	0.547000														9			4		0	0	0.00024832	0	0
PSG3	5671	broad.mit.edu	37	19	43372477	43372477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:43372477G>A	uc002ovd.1	-	4	1157	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.S247L|PSG3_uc002ova.2_Missense_Mutation_p.S247L|PSG3_uc002ouz.2_Missense_Mutation_p.S340L|PSG3_uc002ovb.3_Missense_Mutation_p.S340L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATAGGTGAATGAAGGGTAAAT	0.468000														21			14		0	0	0.000692331	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580549	50580549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:50580549G>A	uc003bjj.3	+	15	2193	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	MOV10L1_uc003bjk.4_Missense_Mutation_p.E704K|MOV10L1_uc011arp.2_Missense_Mutation_p.E684K|MOV10L1_uc011arq.1_Missense_Mutation_p.E465K|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	704					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCATGGAACAGAGGAGAGGCG	0.478000														45			13		0	0	0.000422831	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323543	64323543	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:64323543C>T	uc001oai.3	+	0	446	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC22A11_uc001oah.1_Silent_p.F24F|SLC22A11_uc009ypq.3_Silent_p.F24F	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	24					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGCTCACCTTCATCCTCCCCT	0.607000											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		34			10		0	0	0.000442599	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770497	112770497	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:112770497G>A	uc003kqm.2	-	0	232	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	14	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTTATCCCCAGGAGGTAGCCT	0.552000														23			12		0	0	0.000219431	0	0
SPEN	23013	broad.mit.edu	37	1	16257610	16257610	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:16257610G>A	uc001axk.1	+	10	5079	c.4875G>A	c.(4873-4875)gaG>gaA	p.E1625E	SPEN_uc010obp.1_Silent_p.E1584E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1625					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCTCCTGAGAATAAAGATT	0.453000														37			45		0	0	0.000781405	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586356	15586356	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15586356G>A	uc002nbg.3	-	1	1258	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	PGLYRP2_uc002nbf.4_Silent_p.A375A	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	375					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CACCCAGGAAGGCCTCAGTGA	0.557000														72			42		0	0	0.000781405	0	0
FAM129A	116496	broad.mit.edu	37	1	184767259	184767259	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:184767259G>A	uc001gra.3	-	12	1814	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V	FAM129A_uc001grb.1_Silent_p.V303V	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	540					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCCTCATAGACATTTTCAA	0.418000														31			10		0	0	0.00010058	0	0
LOC650368	650368	broad.mit.edu	37	11	3427736	3427736	+	RNA	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:3427736G>A	uc010qxs.1	+	8		c.729G>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CAGGGTCGGTGGATCTGGGTG	0.622000														16			6		0	0	8.12818e-05	0	0
PIWIL2	55124	broad.mit.edu	37	8	22175704	22175705	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:22175704_22175705CC>TT	uc003xbn.2	+	19	2467_2468	c.2319_2320CC>TT	c.(2317-2322)tcccgg>tcTTgg	p.R774W	PIWIL2_uc011kzf.1_Missense_Mutation_p.R774W|PIWIL2_uc010ltv.2_Missense_Mutation_p.R774W	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	774	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AATGGTATTCCCGGGTGGTGTT	0.495000														87			51		0	0	6.4e-05	0	0
ENPP7	339221	broad.mit.edu	37	17	77710968	77710968	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:77710968C>T	uc002jxa.3	+	3	1175	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	385					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTGAGAGCGTCCACGTGTACG	0.622000														18			19		0	0	0.000132079	0	0
LGALS12	85329	broad.mit.edu	37	11	63283175	63283175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63283175G>A	uc001nxc.2	+	7	1198	c.857G>A	c.(856-858)aGa>aAa	p.R286K	LGALS12_uc001nxa.2_Missense_Mutation_p.R285K|LGALS12_uc001nxb.2_Missense_Mutation_p.R276K|LGALS12_uc001nxd.2_Missense_Mutation_p.R224K|LGALS12_uc001nxe.2_Missense_Mutation_p.R215K|LGALS12_uc009yot.2_Missense_Mutation_p.R245K	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	285	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TACCCCCAGAGATTCTTTGAG	0.557000														14			5		0	0	8.12818e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47518741	47518741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:47518741G>A	uc002leb.2	-	5	961	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	MYO5B_uc021ukb.1_Nonsense_Mutation_p.Q224*	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	225	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAGCCAATCTGGATGTACTTG	0.488000														82			50		0	0	0.000781405	0	0
EVI5	7813	broad.mit.edu	37	1	93159390	93159390	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:93159390G>T	uc010otf.2	-	8	1208	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K	EVI5_uc001dox.3_Missense_Mutation_p.Q400K|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	400	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATTTGACTTGGTAAGCTGCT	0.303000														290			11		0.00010058	0.000930148	0.00010058	1	0
CRHR1	1394	broad.mit.edu	37	17	43893932	43893932	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:43893932C>T	uc010dap.3	+	2	490	c.225C>T	c.(223-225)gtC>gtT	p.V75V	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Missense_Mutation_p.S3F|CRHR1_uc002ijm.3_Silent_p.V75V|CRHR1_uc002ijn.3_Intron|CRHR1_uc010dar.3_Silent_p.V75V|CRHR1_uc010dao.3_Missense_Mutation_p.S3F|CRHR1_uc010daq.3_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Intron	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	75					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTATGGTGTCCGCTACAATA	0.602000														16			8		0	0	0.000157383	0	0
COL4A1	1282	broad.mit.edu	37	13	110828846	110828846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:110828846G>A	uc001vqw.4	-	35	3105	c.2983C>T	c.(2983-2985)Cca>Tca	p.P995S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	995	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTATACCTGGATCACCTTTA	0.502000														24			10		0	0	0.00010058	0	0
PCLO	27445	broad.mit.edu	37	7	82546062	82546062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:82546062G>A	uc003uhx.2	-	6	11529	c.11240C>T	c.(11239-11241)tCc>tTc	p.S3747F	PCLO_uc003uhv.2_Missense_Mutation_p.S3747F|PCLO_uc010lec.3_Missense_Mutation_p.S712F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3678					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						CCTTCTCCTGGAAACTGTGCC	0.468000														50			26		0	0	0.000720815	0	0
CACNA1C	775	broad.mit.edu	37	12	2774812	2774812	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:2774812C>T	uc009zdu.1	+	37	4921	c.4608C>T	c.(4606-4608)atC>atT	p.I1536I	CACNA1C_uc001qkc.2_Silent_p.I1488I|CACNA1C_uc001qjz.2_Silent_p.I1488I|CACNA1C_uc001qkd.2_Silent_p.I1488I|CACNA1C_uc001qke.2_Silent_p.I1477I|CACNA1C_uc001qkf.2_Silent_p.I1477I|CACNA1C_uc009zdw.1_Silent_p.I1510I|CACNA1C_uc001qkg.2_Silent_p.I1475I|CACNA1C_uc001qkh.2_Silent_p.I1477I|CACNA1C_uc001qkl.2_Silent_p.I1536I|CACNA1C_uc001qkj.2_Silent_p.I1488I|CACNA1C_uc001qkk.2_Silent_p.I1488I|CACNA1C_uc001qkn.2_Silent_p.I1488I|CACNA1C_uc001qkm.2_Silent_p.I1477I|CACNA1C_uc001qko.2_Silent_p.I1508I|CACNA1C_uc001qkp.2_Silent_p.I1488I|CACNA1C_uc001qkq.2_Silent_p.I1516I|CACNA1C_uc001qku.2_Silent_p.I1488I|CACNA1C_uc001qkr.2_Silent_p.I1505I|CACNA1C_uc001qks.2_Silent_p.I1488I|CACNA1C_uc001qkt.2_Silent_p.I1488I|CACNA1C_uc009zdv.1_Silent_p.I1485I|CACNA1C_uc001qkb.2_Silent_p.I1488I|CACNA1C_uc001qki.1_Silent_p.I1224I|CACNA1C_uc010sea.1_Silent_p.I179I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1536	Dihydropyridine binding (By similarity).				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)	ACTGGTCCATCCTTGGTCCCC	0.488000														19			6		0	0	8.12818e-05	0	0
ZNF532	55205	broad.mit.edu	37	18	56587240	56587240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:56587240C>T	uc010xeg.2	+	2	1918	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	ZNF532_uc002lhp.3_Missense_Mutation_p.S572L|ZNF532_uc002lho.3_Missense_Mutation_p.S574L|ZNF532_uc002lhr.3_Missense_Mutation_p.S572L|ZNF532_uc002lhs.3_Missense_Mutation_p.S572L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGGTGGTGTCGTCCTTGCAG	0.517000														9			4		0	0	0.00024832	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:109522810C>T	uc010fjn.3	-	10	1621	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_uc010yws.2_Silent_p.R358R|EDAR_uc002teq.4_Silent_p.R326R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	326	Death.		R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGATCTTTTTCCTCCGGCTTT	0.507000														44			17		0	0	0.000175454	0	0
PVRL4	81607	broad.mit.edu	37	1	161044074	161044074	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161044074G>A	uc001fxo.2	-	5	1389	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	PVRL4_uc010pjy.1_Silent_p.L43L|PVRL4_uc010pjz.1_Silent_p.L98L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	364					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACCACCACCAGAAGGCAGAAC	0.597000														34			8		0	0	0.000442599	0	0
CNTN5	53942	broad.mit.edu	37	11	99690469	99690469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:99690469C>T	uc001pga.3	+	3	754	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CNTN5_uc009ywv.2_Missense_Mutation_p.H84Y|CNTN5_uc001pfz.3_Missense_Mutation_p.H84Y|CNTN5_uc021qpb.1_Missense_Mutation_p.H84Y|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	84					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)		CAATCTTTATCATTCCTCAGA	0.428000														9			5		0	0	0.000602214	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551903	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100551902_100551903GG>TT	uc003uxl.1	+	0	1153_1154	c.353_354GG>TT	c.(352-354)agg>aTT	p.R118I	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						TCTTTCACTAGGGGAAGTACGT	0.436000														427			11		0	0	6.4e-05	0	0
RNF212	285498	broad.mit.edu	37	4	1084575	1084575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:1084575C>T	uc003gcj.3	-	3	398	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RNF212_uc003gci.3_Missense_Mutation_p.E100K|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_Missense_Mutation_p.E100K	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	100							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTACCTTTTCTCTATAGAAG	0.363000														55			12		0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152275373	152275373	+	Missense_Mutation	SNP	C	T	T	rs141947562		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:152275373C>T	uc001ezu.1	-	2	12025	c.11989G>A	c.(11989-11991)Gga>Aga	p.G3997R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3997					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)			CTAACACTTCCGTGCTGAGAG	0.398000									Ichthyosis					62			20		0	0	0.000958276	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553074	117553074	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:117553074G>A	uc004bjh.3	-	3	530	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TNFSF15_uc004bjg.3_Silent_p.F79F	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	138					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGATCAGCAGGAATTTGTTGG	0.498000														15			12		0	0	0.00010058	0	0
CXorf36	79742	broad.mit.edu	37	X	45051054	45051054	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:45051054T>A	uc004dgg.2	-	1	515	c.440A>T	c.(439-441)aAa>aTa	p.K147I	CXorf36_uc004dgi.3_Missense_Mutation_p.K147I	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	147						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CCTCTCTGTTTTCCGCAGGAC	0.547000														18			35		0	0	0.00058488	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:81719572G>A	uc001szo.2	-	21	2787	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.R802*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.R777*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.R876*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.R858*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.R876*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.R443*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.R93*	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.	802								p.R876*(2)		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						TTTAGTCTTCGATCCTTCTCA	0.393000														31			14		0	0	0.000219431	0	0
ZNF560	147741	broad.mit.edu	37	19	9577906	9577906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9577906C>T	uc002mlp.1	-	9	1927	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	ZNF560_uc010dwr.1_Missense_Mutation_p.E467K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	573					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						TTCATACATTCATAGGGTTTC	0.393000														64			28		0	0	0.000227799	0	0
LCP2	3937	broad.mit.edu	37	5	169680137	169680138	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:169680137_169680138GG>AA	uc003man.1	-	17	1437_1438	c.1230_1231CC>TT	c.(1228-1233)tccccc>tcTTcc	p.P411S	LCP2_uc011des.1_Missense_Mutation_p.P206S|LCP2_uc011det.1_Missense_Mutation_p.P240S	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	411					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.P411P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCCTCCGCGGGGGATGGGGGCC	0.460000														11			5		0	0	6.4e-05	0	0
DCTN1	1639	broad.mit.edu	37	2	74593654	74593654	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:74593654G>C	uc002skx.3	-	21	2878	c.2560C>G	c.(2560-2562)Cca>Gca	p.P854A	DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Missense_Mutation_p.P720A|DCTN1_uc002sku.3_Missense_Mutation_p.P720A|DCTN1_uc002skw.2_Missense_Mutation_p.P847A|DCTN1_uc010ffd.3_Missense_Mutation_p.P834A|DCTN1_uc002sky.3_Missense_Mutation_p.P817A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	854					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTGCCAGTGGGGCAATGAGC	0.597000														71			4		0	0	0.00024832	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649018	33649018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:33649018G>A	uc003jia.1	-	8	1551	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S463F	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	463					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATGACCTTGGACTTCAAGCC	0.458000										HNSCC(64;0.19)				52			16		0	0	0.000422831	0	0
MXRA5	25878	broad.mit.edu	37	X	3248228	3248228	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:3248228G>A	uc004crg.4	-	3	697	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	180						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)				TGGAGAGTCTGAAATAATCCA	0.483000														4			9		0	0	0.000274275	0	0
MAP1A	4130	broad.mit.edu	37	15	43817529	43817529	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:43817529G>A	uc001zrt.3	+	3	4325	c.3858G>A	c.(3856-3858)agG>agA	p.R1286R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1286						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)	GCCTTGACAGGAAGTCACCTG	0.527000														37			18		0	0	0.000175454	0	0
KPNA2	3838	broad.mit.edu	37	17	66038262	66038262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:66038262C>T	uc002jgk.3	+	4	496	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	KPNA2_uc002jgl.3_Missense_Mutation_p.P122S	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	122					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)			TGGTTTGATTCCGAAATTTGT	0.423000														63			53		0	0	0.000781405	0	0
HSD17B4	3295	broad.mit.edu	37	5	118844860	118844860	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:118844860T>C	uc003ksj.3	+	15	1491	c.1358T>C	c.(1357-1359)cTt>cCt	p.L453P	HSD17B4_uc011cwh.2_Missense_Mutation_p.L435P|HSD17B4_uc011cwg.2_Missense_Mutation_p.L429P|HSD17B4_uc011cwi.2_Missense_Mutation_p.L478P|HSD17B4_uc003ksk.4_Missense_Mutation_p.L306P|HSD17B4_uc011cwj.2_Missense_Mutation_p.L306P|HSD17B4_uc010jcn.2_Missense_Mutation_p.L191P	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	453	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GAGAAGGAACTTATATGCCAC	0.368000														95			50		0	0	0.000781405	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595344	167595344	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:167595344C>T	uc010kkp.3	+	7	1133	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	334										endometrium(1)|kidney(2)|lung(3)	6						GGTCCGGTTTCCCGAGTGAAT	0.537000														11			10		0	0	0.000673444	0	0
OR52N1	79473	broad.mit.edu	37	11	5809912	5809912	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:5809912G>A	uc010qzo.2	-	0	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACATAAGGCCGAAGTTCCCTG	0.463000														28			10		0	0	0.000673444	0	0
DIP2A	23181	broad.mit.edu	37	21	47916994	47916994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:47916994C>T	uc002zjo.2	+	3	560	c.377C>T	c.(376-378)tCg>tTg	p.S126L	DIP2A_uc011afy.1_Missense_Mutation_p.S62L|DIP2A_uc011afz.1_Missense_Mutation_p.S126L|DIP2A_uc002zjl.3_Missense_Mutation_p.S126L|DIP2A_uc002zjm.3_Missense_Mutation_p.S126L|DIP2A_uc010gql.3_Missense_Mutation_p.S126L|DIP2A_uc002zjn.3_Missense_Mutation_p.S126L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTTGTGCATTCGTCTGTGGAA	0.453000														18			8		0	0	0.000274275	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508805	106508805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:106508805G>A	uc003vdv.4	+	1	884	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E267K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E267K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	267					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	p.S266S(1)		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						AAGCCAAAGCGAACAGGATTT	0.557000														25			19		0	0	0.000295444	0	0
MAPK4	5596	broad.mit.edu	37	18	48190586	48190586	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:48190586C>T	uc002lev.3	+	1	1258	c.258C>T	c.(256-258)ccC>ccT	p.P86P	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.P86P	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	86	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTCGGTCCCAAGGGCACTG	0.602000														26			17		0	0	0.00074312	0	0
OR2G3	81469	broad.mit.edu	37	1	247769766	247769766	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:247769766G>A	uc010pyz.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACTTTAAGGAACAAGGATA	0.423000														34			20		0	0	0.000229342	0	0
CCDC9	26093	broad.mit.edu	37	19	47767923	47767923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:47767923G>A	uc010xym.2	+	5	733	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	176										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAAGATCGCCGAGTATGAGCG	0.647000														1			5		0	0	3.59834e-05	0	0
MEGF11	84465	broad.mit.edu	37	15	66262995	66262995	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:66262995C>T	uc002apm.2	-	7	936	c.795G>A	c.(793-795)ggG>ggA	p.G265G	MEGF11_uc002apl.2_Silent_p.G190G|MEGF11_uc002apn.1_Silent_p.G265G	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	265						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCAAATGTCCCTGGTGGGC	0.572000														12			4		0	0	0.00024832	0	0
ULK1	8408	broad.mit.edu	37	12	132395278	132395278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:132395278C>T	uc001uje.3	+	11	1149	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	294	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTGTGCCCTCGTACCCAAGC	0.657000														34			13		0	0	0.000422831	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149731	63149731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63149731C>T	uc001nww.3	+	5	1323	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	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.	352					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAGGATCTCCCTCCTGTCC	0.403000														65			29		0	0	0.000339439	0	0
DPH1	1801	broad.mit.edu	37	17	1939915	1939915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:1939915C>T	uc010vqs.2	+	3	544	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	DPH1_uc002fts.3_Missense_Mutation_p.L170F|DPH1_uc002ftt.3_Missense_Mutation_p.L165F|DPH1_uc010cjx.3_Missense_Mutation_p.L30F|DPH1_uc002ftv.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	170					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTCTCTCCGCCTCACCTTTCC	0.602000														21			10		0	0	0.000673444	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293730	71293730	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:71293730A>T	uc001oqu.3	-	0	192	c.154T>A	c.(154-156)Tgt>Agt	p.C52S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	52	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCAGGAACAGGCTGGCACA	0.652000														81			29		0	0	0.000491102	0	0
LAMA3	3909	broad.mit.edu	37	18	21483967	21483967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:21483967C>T	uc002kuq.3	+	49	6475	c.6389C>T	c.(6388-6390)tCc>tTc	p.S2130F	LAMA3_uc002kur.3_Missense_Mutation_p.S2074F|LAMA3_uc002kus.4_Missense_Mutation_p.S521F|LAMA3_uc002kut.4_Missense_Mutation_p.S465F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2130	Domain II and I.				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)	AGAGAACTTTCCAGATCTGCT	0.428000														91			32		0	0	0.000814825	0	0
LOC646214	646214	broad.mit.edu	37	15	21936528	21936528	+	RNA	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:21936528G>A	uc010tzj.1	-	0		c.4212C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGTAGAAAATGGAAAAAAGAA	0.363000														121			17		0	0	0.000566183	0	0
FARS2	10667	broad.mit.edu	37	6	5545501	5545501	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:5545501C>T	uc010jnv.1	+	4	1329	c.993C>T	c.(991-993)ctC>ctT	p.L331L	FARS2_uc003mwr.2_Silent_p.L331L	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	331					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.R330H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATATCCGTCTCTTCTGGTGTG	0.473000														99			51		0	0	0.000781405	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204224	10204224	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10204224C>T	uc002mmy.1	-	4	1215	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	ANGPTL6_uc002mmx.2_Silent_p.G341G	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	341	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCTCATGGTCCCCACGGCTGG	0.647000														5			5		0	0	0.000602214	0	0
DNAH17	8632	broad.mit.edu	37	17	76455993	76455993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:76455993C>T	uc010dhp.2	-	59	9651	c.9526G>A	c.(9526-9528)Ggc>Agc	p.G3176S	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGATCTTGCCCCCAGGTGCG	0.567000														29			32		0	0	0.000491102	0	0
C9orf152	401546	broad.mit.edu	37	9	112963392	112963392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:112963392G>A	uc011lwk.2	-	1	1110	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	186										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCCTTTGTTTGGGTATTGCCC	0.483000														25			19		0	0	0.000958276	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528491	24528491	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:24528491C>T	uc001wlj.2	+	20	1796	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	547										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTGCAGTCACTGTCGGTGGC	0.647000														16			5		0	0	0.000157383	0	0
SCN9A	6335	broad.mit.edu	37	2	167133620	167133620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:167133620G>A	uc010fpl.3	-	15	3055	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	916						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)	AATCAGGAAGGAGTGGAAGAA	0.498000														26			26		0	0	0.00058488	0	0
ITGA8	8516	broad.mit.edu	37	10	15649789	15649789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:15649789C>T	uc001ioc.1	-	16	1651	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	ITGA8_uc010qcb.1_Missense_Mutation_p.G536R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	551					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTAATAGCTCCTTTCTGTTTC	0.433000														39			18		0	0	0.000958276	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209338	140209338	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140209338C>T	uc003lho.2	+	0	1689	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	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_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.F554F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.692000														47			32		0	0	0.000953801	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:148600313C>T	uc003ewm.3	+	7	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	237					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)			GAGAAAAAATCGTTCCAAGAA	0.383000														30			9		0	0	0.000978159	0	0
LILRB1	10859	broad.mit.edu	37	19	55145111	55145111	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:55145111C>T	uc002qgj.3	+	8	1624	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	LILRB1_uc010erp.1_Silent_p.S43S|LILRB1_uc002qgl.3_Silent_p.S428S|LILRB1_uc002qgk.3_Silent_p.S428S|LILRB1_uc002qgm.3_Silent_p.S428S|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	428					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCCAGCTCCCCGACAACAG	0.597000										HNSCC(37;0.09)				12			4		0	0	0.00024832	0	0
MGAM	8972	broad.mit.edu	37	7	141752712	141752712	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141752712C>T	uc003vwy.3	+	25	3141	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1029					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)	ATGCCAATGCCTTCCCCTCCA	0.463000														46			22		0	0	0.000375601	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508390	15508390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15508390G>A	uc002naw.1	-	10	1445	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.T388I	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	449						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTCCTCCACGGTTTTTCGGAG	0.527000														23			10		0	0	0.000673444	0	0
BCMO1	53630	broad.mit.edu	37	16	81279104	81279104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81279104G>A	uc002fgn.1	+	1	307	c.89G>A	c.(88-90)gGa>gAa	p.G30E	BCMO1_uc002fgm.1_Missense_Mutation_p.G30E|BCMO1_uc010vnp.1_Silent_p.G4G	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	30					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGCTGCAGGGAACCCTGCTC	0.522000														70			41		0	0	0.000509022	0	0
PTGDR	5729	broad.mit.edu	37	14	52735365	52735365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:52735365C>T	uc001wzq.3	+	0	935	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	278						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACTATGTGTTCTCTGCCCGTA	0.682000														64			43		0	0	0.000781405	0	0
VNN3	55350	broad.mit.edu	37	6	133046062	133046062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:133046062C>T	uc011ecm.2	-	4	1004	c.112G>A	c.(112-114)Gag>Aag	p.E38K	VNN3_uc010kfs.3_Missense_Mutation_p.E4K|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Missense_Mutation_p.E38K|VNN3_uc010kfu.3_Missense_Mutation_p.E38K|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Missense_Mutation_p.E38K|VNN3_uc010kfx.3_Missense_Mutation_p.E4K|VNN3_uc010kfy.3_Missense_Mutation_p.E4K|VNN3_uc010kfz.3_Missense_Mutation_p.E4K					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGACCACTCTCTGTTTCCATG	0.498000														34			19		0	0	0.000132079	0	0
SAMD9	54809	broad.mit.edu	37	7	92731611	92731611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:92731611G>A	uc003umf.3	-	2	4070	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F	SAMD9_uc003umg.3_Missense_Mutation_p.S1267F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1267F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1267						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCAAAGGACTTTTTCAA	0.323000														77			45		0	0	0.000437636	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274210	10274210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	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														14			9		0	0	0.000442599	0	0
EGF	1950	broad.mit.edu	37	4	110866282	110866282	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:110866282G>C	uc003hzy.4	+	4	1243	c.791G>C	c.(790-792)tGg>tCg	p.W264S	EGF_uc011cfu.2_Missense_Mutation_p.W264S|EGF_uc011cfv.2_Missense_Mutation_p.W264S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	264					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TATTCAACATGGAAAATGAAG	0.358000														40			8		0	0	0.000157383	0	0
CTSH	1512	broad.mit.edu	37	15	79224718	79224718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:79224718G>A	uc021srk.1	-	5	585	c.488C>T	c.(487-489)tCc>tTc	p.S163F	CTSH_uc010unf.1_Non-coding_Transcript	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	163					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCTTACCAAGGACAGCATCTT	0.622000														17			6		0	0	0.000274275	0	0
OR8H3	390152	broad.mit.edu	37	11	55890100	55890100	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55890100G>A	uc001nii.1	+	0	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000														130			72		0	0	0.000781405	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955507	26955507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:26955507G>A	uc002hbu.3	-	23	4473	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1457						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTTGTCCAGGAAATCCGTAA	0.458000														38			19		0	0	0.000175454	0	0
CHAF1B	8208	broad.mit.edu	37	21	37781728	37781729	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:37781728_37781729CG>AT	uc002yvj.3	+	9	1022_1023	c.884_885CG>AT	c.(883-885)ccg>cAT	p.P295H		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	295					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	p.P295Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGCTGCTGTCCGGTCTACTTTG	0.505000														209			7		0	0	6.4e-05	0	0
PGBD1	84547	broad.mit.edu	37	6	28268797	28268797	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28268797G>C	uc003nky.3	+	6	1586	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PGBD1_uc003nkz.3_Missense_Mutation_p.S389T	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	389					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGAAAAGAGTTGGACCAAA	0.428000														50			30		0	0	0.00106085	0	0
ZNF16	7564	broad.mit.edu	37	8	146156457	146156457	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:146156457G>A	uc003zet.3	-	3	1903	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	ZNF16_uc003zeu.3_Silent_p.P572P	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TACATTCATGGGGCTTCAGCC	0.453000														33			16		0	0	0.000566183	0	0
OR51A4	401666	broad.mit.edu	37	11	4968009	4968009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4968009C>T	uc010qys.2	-	0	322	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGAATCCATGAATGAAG	0.438000														160			32		0	0	0.00058488	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378890	55378890	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:55378890C>T	uc003pcn.3	-	5	747	c.588G>A	c.(586-588)gaG>gaA	p.E196E	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.E166E|HMGCLL1_uc010jzx.3_Silent_p.E67E|HMGCLL1_uc011dxc.2_Silent_p.E134E|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Silent_p.E134E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	196							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.F195I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAACAACCTCCTCAAATTTTC	0.363000														56			26		0	0	0.000878237	0	0
HEATR6	63897	broad.mit.edu	37	17	58143671	58143671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:58143671G>A	uc002iyk.1	-	8	1332	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.L271F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	439							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGCCATAAAGAACTTTTTTT	0.388000														60			20		0	0	0.000175454	0	0
JAK3	3718	broad.mit.edu	37	19	17948743	17948743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:17948743C>T	uc002nhn.4	-	11	1799	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.E567K	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	567	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCTCTCACCTCCATGCAGTTC	0.567000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									111			59		0	0	0.000781405	0	0
POTEC	388468	broad.mit.edu	37	18	14511960	14511960	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:14511960G>A	uc010dln.3	-	10	2020	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	522										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTCACGCAAGAGATCTTCTT	0.343000														31			17		0	0	0.000132079	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619927	15619927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:15619927C>T	uc010cot.3	+	5	1285	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	ZNF286A_uc002goz.4_Missense_Mutation_p.L185F|ZNF286A_uc010vwa.2_Missense_Mutation_p.L297F|ZNF286A_uc002gpa.3_Missense_Mutation_p.L297F	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TACTAGAATTCTCTTTGAATG	0.398000														41			19		0	0	0.000586117	0	0
PCNX	22990	broad.mit.edu	37	14	71576565	71576565	+	Silent	SNP	C	T	T	rs142043783		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:71576565C>T	uc001xmo.2	+	35	7385	c.6939C>T	c.(6937-6939)atC>atT	p.I2313I	PCNX_uc010are.1_Silent_p.I2202I|PCNX_uc010arf.1_Silent_p.I1101I|PCNX_uc001xmp.2_Silent_p.I397I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2313						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATCCCACATCGACAAGGCAG	0.448000														44			19		0	0	0.000958276	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211412	81211412	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81211412C>T	uc002fgh.1	-	14	2437	c.2437_splice	c.e14+1	p.G813_splice	PKD1L2_uc002fgg.1_Splice_Site|PKD1L2_uc002fgi.3_Splice_Site_p.G128_splice|PKD1L2_uc002fgj.3_Splice_Site_p.G813_splice|PKD1L2_uc002fgk.1_Splice_Site|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	813	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						CAGCCGGTACCTGATTCCAGA	0.567000														36			20		0	0	0.000586117	0	0
DSCAM	1826	broad.mit.edu	37	21	41668061	41668061	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:41668061C>T	uc002yyq.1	-	9	2555	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	701	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCATAAATCCCGTCCTGGT	0.443000														35			16		0	0	0.000566183	0	0
FAM133A	286499	broad.mit.edu	37	X	92964700	92964700	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:92964700G>A	uc022bzw.1	+	2	719	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM133A_uc022bzu.1_Silent_p.K94K|FAM133A_uc004efr.2_Silent_p.K94K|FAM133A_uc022bzv.1_Silent_p.K94K|FAM133A_uc022bzx.1_Silent_p.K94K	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	94	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						gagaaagaaagaaaaagagaa	0.323000														18			17		0	0	0.000566183	0	0
DSC3	1825	broad.mit.edu	37	18	28602456	28602456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:28602456C>T	uc002kwj.4	-	6	943	c.788G>A	c.(787-789)gGg>gAg	p.G263E	DSC3_uc002kwi.4_Missense_Mutation_p.G263E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	263	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)			ACAAACCACCCCCACTGTAGT	0.383000														26			14		0	0	0.000566183	0	0
DNAH1	25981	broad.mit.edu	37	3	52397078	52397078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:52397078C>T	uc011bef.2	+	31	5423	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1721	AAA 1 (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)		TCCCTCTATTCCTTTGGCTTT	0.532000														37			23		0	0	0.000586117	0	0
RASSF9	9182	broad.mit.edu	37	12	86199417	86199417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:86199417G>A	uc001taf.1	-	1	710	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	124					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCGCCACAAAGGAACTGGAAG	0.438000														95			51		0	0	0.000781405	0	0
TDRD10	126668	broad.mit.edu	37	1	154480940	154480940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:154480940C>T	uc009wow.3	+	3	962	c.124C>T	c.(124-126)Cca>Tca	p.P42S	TDRD10_uc001ffd.3_Missense_Mutation_p.P42S	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	42	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAATCTTCCACTGGATAT	0.393000														66			38		0	0	0.000437636	0	0
KIF1C	10749	broad.mit.edu	37	17	4927384	4927384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:4927384C>T	uc002gan.2	+	22	3607	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	1084	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATACACTACTCCCCCACGAAT	0.652000														15			12		0	0	0.000308642	0	0
MYO16	23026	broad.mit.edu	37	13	109379923	109379923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:109379923C>T	uc010agk.2	+	3	1121	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	MYO16_uc001vqt.1_Missense_Mutation_p.L145F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	145					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTCCTGCTTCTTGTATTAGT	0.378000														38			28		0	0	0.000491102	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436125	72436125	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:72436125C>T	uc002jkp.3	+	1	856	c.345C>T	c.(343-345)atC>atT	p.I115I	GPRC5C_uc002jkq.3_Silent_p.I115I|GPRC5C_uc002jkr.3_Silent_p.I82I|GPRC5C_uc002jkt.3_Silent_p.I70I	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	70						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCACCATCATCCTGGTGGCCA	0.632000														10			20		0	0	0.000229342	0	0
GBE1	2632	broad.mit.edu	37	3	81643160	81643160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:81643160C>T	uc021xav.1	-	7	1289	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	GBE1_uc021xax.1_Missense_Mutation_p.R295K	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	336					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGAAGGAATCTTAAAATTTC	0.318000									Glycogen Storage Disease, type IV					15			4		0	0	0.00024832	0	0
AP1G1	164	broad.mit.edu	37	16	71792781	71792781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:71792781G>A	uc010cgg.3	-	10	1332	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y	AP1G1_uc021tkz.1_Missense_Mutation_p.H128Y|AP1G1_uc002fbb.3_Missense_Mutation_p.H363Y|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc021tky.1_Missense_Mutation_p.H343Y|SNORD71_uc002fbc.1_5'Flank	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	340					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACTGCATTATGATCTGTCTGT	0.368000														29			8		0	0	0.000274275	0	0
GJB7	375519	broad.mit.edu	37	6	87994192	87994192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:87994192C>T	uc003plo.2	-	2	785	c.439G>A	c.(439-441)Gat>Aat	p.D147N	GJB7_uc021zcj.1_Missense_Mutation_p.D147N	NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	Homo sapiens gap junction protein, beta 7, 25kDa (GJB7), mRNA.	147					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTAAAGCCATCATATAGCTTA	0.403000														30			11		0	0	0.000219431	0	0
SAMD12	401474	broad.mit.edu	37	8	119593116	119593116	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:119593116C>T	uc003yom.2	-	1	159	c.30G>A	c.(28-30)ttG>ttA	p.L10L	SAMD12_uc010mda.1_Silent_p.L10L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	10										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCCGTGGATTCAAACCACAGT	0.383000														17			7		0	0	8.12818e-05	0	0
IL20RA	53832	broad.mit.edu	37	6	137323265	137323265	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:137323265C>T	uc003qhj.3	-	6	1525	c.1092G>A	c.(1090-1092)tcG>tcA	p.S364S	IL20RA_uc011edl.2_Silent_p.S315S|IL20RA_uc003qhk.3_Silent_p.S253S|IL20RA_uc003qhi.3_Silent_p.S96S	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	364						integral to membrane	receptor activity	p.S364S(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCATCAAATGCGAAGCATACC	0.483000														33			13		0	0	0.00010058	0	0
TPRG1	285386	broad.mit.edu	37	3	188925305	188925305	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:188925305G>A	uc003frv.2	+	6	1359	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TPRG1_uc003frw.2_Silent_p.Q44Q	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	44								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TTTCAAGGCAGTCAAGTGTGA	0.463000														95			31		0	0	0.000953801	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541122	111541123	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:111541122_111541123GG>TT	uc003kpv.1	-	13	1531_1532	c.1257_1258CC>AA	c.(1255-1260)ccccag>ccAAag	p.Q420K	EPB41L4A_uc003kpp.1_Missense_Mutation_p.Q47K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	420						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.P419H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTACCTCTGGGGGCCATTTT	0.386000														383			10		0	0	6.4e-05	0	0
RP1	6101	broad.mit.edu	37	8	55539782	55539782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:55539782G>A	uc003xsd.1	+	3	3488	c.3340G>A	c.(3340-3342)Ggt>Agt	p.G1114S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1114					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)			TTCACTTGCAGGTGTTCCCTT	0.428000														40			19		0	0	0.000132079	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362159	49362159	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49362159G>A	uc002pkx.3	-	7	1481	c.930C>T	c.(928-930)ccC>ccT	p.P310P	PLEKHA4_uc010eml.3_Silent_p.P310P	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.	310	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)		GACTCCTGGGGGGCTTTCCTC	0.652000														48			22		0	0	0.00106085	0	0
FOXA1	3169	broad.mit.edu	37	14	38064108	38064108	+	Missense_Mutation	SNP	C	T	T	rs147437212		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:38064108C>T	uc001wuf.3	-	0	382	c.70G>A	c.(70-72)Gag>Aag	p.E24K	FOXA1_uc010tpz.2_5'Flank	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	24					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCTCTCACCTCCTGCGTGTCT	0.677000														12			5		0	0	8.12818e-05	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761124	121761124	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:121761124G>A	uc003ksw.1	+	4	1286	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.Q360Q|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.Q407Q|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.Q54Q|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	360					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGGCGTCACAGGGACACGCAG	0.453000														50			39		0	0	0.000270559	0	0
GRIA4	2893	broad.mit.edu	37	11	105789553	105789553	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:105789553A>G	uc001pix.2	+	10	1831	c.1385A>G	c.(1384-1386)tAt>tGt	p.Y462C	GRIA4_uc001piw.2_Missense_Mutation_p.Y462C	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	462					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGTATCAAGTATAAAATTGCC	0.358000														26			11		0	0	0.000673444	0	0
TMC5	79838	broad.mit.edu	37	16	19490759	19490759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:19490759G>A	uc002dgc.4	+	13	2925	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	TMC5_uc010vaq.2_Missense_Mutation_p.E674K|TMC5_uc002dgb.4_Missense_Mutation_p.E726K|TMC5_uc010var.2_Missense_Mutation_p.E726K|TMC5_uc002dgd.1_Missense_Mutation_p.E480K|TMC5_uc002dge.4_Missense_Mutation_p.E480K|TMC5_uc002dgf.4_Missense_Mutation_p.E409K|TMC5_uc002dgg.4_Missense_Mutation_p.E367K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	726						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						CCAGTGTTGGGAAACCCTCAT	0.493000														133			48		0	0	0.000781405	0	0
LRRC27	80313	broad.mit.edu	37	10	134161627	134161627	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:134161627T>A	uc010quw.1	+	5	888	c.693T>A	c.(691-693)ttT>ttA	p.F231L	LRRC27_uc001llf.2_Missense_Mutation_p.F231L|LRRC27_uc010quv.1_Missense_Mutation_p.F231L|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.F231L|LRRC27_uc001llj.2_Missense_Mutation_p.F169L|LRRC27_uc001llk.4_Missense_Mutation_p.F104L	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	231										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCCAGCTTTCTCCCACCTG	0.582000														8			15		0	0	0.000422831	0	0
COL23A1	91522	broad.mit.edu	37	5	177733917	177733917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:177733917G>A	uc021yiz.1	-	2	723	c.365C>T	c.(364-366)cCc>cTc	p.P122L	COL23A1_uc021yiy.1_5'UTR	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	122	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGTCCAGGGGGCCCTAGACA	0.617000														5			3		0	0	6.4e-05	0	0
PKP3	11187	broad.mit.edu	37	11	399048	399048	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:399048G>A	uc021qbk.1	+	5	1199	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	PKP3_uc001lpc.3_Silent_p.Q375Q	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	375					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCCAACCAGGAAGTGCAGC	0.622000														29			14		0	0	0.00074312	0	0
RYR3	6263	broad.mit.edu	37	15	33928631	33928631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:33928631G>A	uc001zhi.3	+	26	3506	c.3436G>A	c.(3436-3438)Gat>Aat	p.D1146N	RYR3_uc010bar.3_Missense_Mutation_p.D1146N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1146	4 X approximate repeats.|B30.2/SPRY 2.				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)		GCAGCCAGGGGATGTGGTCGG	0.502000														102			58		0	0	0.000781405	0	0
TRIM48	79097	broad.mit.edu	37	11	55032382	55032382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55032382G>A	uc010rid.2	+	1	137	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	1						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGAAACATGAATTCTGGAA	0.453000														128			64		0	0	0.000781405	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856064	12856064	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:12856064G>A	uc001auj.2	+	3	1447	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	448										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|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)		GGCAGCCCAAGAGGATCTTCA	0.567000														68			21		0	0	0.000720815	0	0
COL11A1	1301	broad.mit.edu	37	1	103480069	103480069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:103480069G>A	uc001dum.3	-	12	1924	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.R524W|COL11A1_uc001dun.3_Missense_Mutation_p.R485W|COL11A1_uc009weh.3_Missense_Mutation_p.R408W	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	524	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCTTACCCGAGCCTGCTGA	0.418000														23			11		0	0	0.000151284	0	0
CLYBL	171425	broad.mit.edu	37	13	100517131	100517131	+	Silent	SNP	C	T	T	rs141341905		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:100517131C>T	uc001vok.3	+	4	631	c.600C>T	c.(598-600)gtC>gtT	p.V200V	CLYBL_uc010tix.2_Silent_p.V200V|CLYBL_uc010tiy.2_Silent_p.V166V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	200					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAGATGCAGTCGTTTTTGGAG	0.438000														46			28		0	0	0.000491102	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269704	150269704	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:150269704C>T	uc003whl.3	+	2	628	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GIMAP4_uc011kuu.2_Silent_p.F43F|GIMAP4_uc011kuv.2_Silent_p.F196F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	182							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGACATTTTCGGTGACCGCT	0.512000														52			20		0	0	0.000175454	0	0
UMODL1	89766	broad.mit.edu	37	21	43543040	43543040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:43543040C>T	uc002zag.1	+	15	3311	c.3311C>T	c.(3310-3312)cCc>cTc	p.P1104L	UMODL1_uc002zad.1_Missense_Mutation_p.P904L|UMODL1_uc002zae.1_Missense_Mutation_p.P1032L|UMODL1_uc002zaf.1_Missense_Mutation_p.P976L|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	976	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCCCCACCCCCCAAGGCCTG	0.637000														8			10		0	0	0.000978159	0	0
ASXL1	171023	broad.mit.edu	37	20	31024547	31024547	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:31024547C>T	uc021wbw.1	+	12	4464	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	ASXL1_uc002wxs.3_Silent_p.S1343S|ASXL1_uc010geb.3_Silent_p.S1235S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCACAAACTCCATGTCTGGTG	0.572000			"""F, N, Mis"""		"""MDS, CMML"""									31			12		0	0	0.000151284	0	0
SUV420H2	84787	broad.mit.edu	37	19	55858440	55858441	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:55858440_55858441CC>TT	uc002qkj.4	+	8	1260_1261	c.1012_1013CC>TT	c.(1012-1014)ccc>TTc	p.P338F	SUV420H2_uc002qkl.3_Missense_Mutation_p.P223F	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCGCCGACGCCCCCGGCCCCGG	0.767000														1			4		0	0	6.4e-05	0	0
ILDR2	387597	broad.mit.edu	37	1	166891852	166891852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:166891852C>T	uc001gdx.2	-	7	1245	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	397						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCTCTCGATCCTCTTTGTTA	0.602000														98			54		0	0	0.000781405	0	0
ERCC4	2072	broad.mit.edu	37	16	14042072	14042072	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:14042072C>T	uc002dce.2	+	10	2628	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	ERCC4_uc010uyz.1_Silent_p.I423I	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	873	Interaction with EME1 and ERCC1.		I -> V (in dbSNP:rs2020957).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTAAGAACATCGCAGAATTAG	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					26			11		0	0	0.000978159	0	0
RICTOR	253260	broad.mit.edu	37	5	38950648	38950648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:38950648G>A	uc003jlo.2	-	30	3324	c.3302C>T	c.(3301-3303)tCg>tTg	p.S1101L	RICTOR_uc003jlp.2_Missense_Mutation_p.S1101L|RICTOR_uc010ivf.2_Missense_Mutation_p.S816L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1101					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.S1101L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAAGTAAGCGAATTTAAGAT	0.368000														74			29		0	0	0.000184323	0	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:154862641C>T	uc003wlu.1	+	0	96	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000														47			22		0	0	0.000720815	0	0
BCAR1	9564	broad.mit.edu	37	16	75268999	75268999	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:75268999T>A	uc002fdv.3	-	4	1944	c.1798A>T	c.(1798-1800)Aat>Tat	p.N600Y	BCAR1_uc002fdt.3_Missense_Mutation_p.N53Y|BCAR1_uc002fdu.3_Missense_Mutation_p.N390Y|BCAR1_uc010vna.2_Missense_Mutation_p.N598Y|BCAR1_uc010cgu.3_Missense_Mutation_p.N618Y|BCAR1_uc010vnb.2_Missense_Mutation_p.N646Y|BCAR1_uc002fdw.3_Missense_Mutation_p.N600Y|BCAR1_uc010vnc.2_Missense_Mutation_p.N452Y|BCAR1_uc010vnd.2_Missense_Mutation_p.N618Y|BCAR1_uc002fdx.3_Missense_Mutation_p.N618Y	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	600	Ser-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGTGAGGCATTGCCGTGCAGG	0.687000														30			12		0	0	0.00010058	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:66083654C>T	uc001dci.3	+	15	2609	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000														38			19		0	0	0.000132079	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604484	15604484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:15604484C>T	uc010cot.3	+	2	452	c.56C>T	c.(55-57)tCt>tTt	p.S19F	ZNF286A_uc002goz.4_5'UTR|ZNF286A_uc010vwa.2_Missense_Mutation_p.S19F|ZNF286A_uc002gpa.3_Missense_Mutation_p.S19F	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S19S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCCCAGGATTCTCCCCATTTC	0.473000														233			30		0	0	0.000781405	0	0
XKR3	150165	broad.mit.edu	37	22	17280797	17280797	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:17280797G>A	uc002zlv.3	-	2	551	c.453C>T	c.(451-453)ttC>ttT	p.F151F	XKR3_uc011agf.2_Silent_p.F151F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	151						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGATTGAGAATGCAATCT	0.388000														75			38		0	0	0.000374591	0	0
ZNF286B	729288	broad.mit.edu	37	17	18584124	18584124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18584124G>A	uc010vyd.1	-	2	307	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAAATGGGGAGAATCCTGGGA	0.468000														22			4		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9058358	9058358	+	Silent	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9058358T>A	uc002mkp.3	-	2	29292	c.29088A>T	c.(29086-29088)ggA>ggT	p.G9696G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9698	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						AGTGTGAAAGTCCTTGAGACA	0.493000														24			14		0	0	0.000566183	0	0
NRXN1	9378	broad.mit.edu	37	2	51254771	51254771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:51254771C>T	uc021vhh.1	-	0	1562	c.641G>A	c.(640-642)gGa>gAa	p.G214E	NRXN1_uc021vhg.1_Missense_Mutation_p.G214E|NRXN1_uc021vhi.1_Missense_Mutation_p.G214E|NRXN1_uc021vhj.1_Missense_Mutation_p.G214E|NRXN1_uc021vhk.1_Missense_Mutation_p.G214E	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	214	EGF-like 1.|Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACGGGCTTCCCCCGCCGCT	0.697000														2			4		0	0	0.00024832	0	0
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:124380872G>A	uc001lgk.1	+	40	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1723K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1105K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1733K|DMBT1_uc021qag.1_Missense_Mutation_p.E1723K|DMBT1_uc021qah.1_Missense_Mutation_p.E1105K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1733K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.E436K|DMBT1_uc009yac.1_Missense_Mutation_p.E47K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1733	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	p.E1733K(1)|p.E1862K(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCACGAAGACGCTGG	0.557000														16			9		0	0	0.000274275	0	0
FAT3	120114	broad.mit.edu	37	11	92525989	92525989	+	Silent	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:92525989G>T	uc001pdj.4	+	7	4685	c.4668G>T	c.(4666-4668)gtG>gtT	p.V1556V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1556	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGTGAATGTGGAGGATGCTA	0.433000										TCGA Ovarian(4;0.039)				636			14		0.00074312	0.00682339	0.00074312	1	0
KLHL6	89857	broad.mit.edu	37	3	183210442	183210442	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:183210442C>T	uc003flr.3	-	5	1462	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	468										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CATACAGCTTCTTCTTATGGC	0.552000														44			35		0	0	0.000781405	0	0
NSUN7	79730	broad.mit.edu	37	4	40776887	40776887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:40776887G>A	uc003gvj.4	+	5	1240	c.745G>A	c.(745-747)Gat>Aat	p.D249N	NSUN7_uc003gvh.2_Missense_Mutation_p.D249N|NSUN7_uc003gvi.4_Missense_Mutation_p.D249N	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACATTGCTATGATGTCTTAAT	0.254000														52			23		0	0	0.000229342	0	0
NOX5	79400	broad.mit.edu	37	15	69339775	69339775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:69339775G>A	uc002ars.2	+	11	1756	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G526E|NOX5_uc002arp.2_Missense_Mutation_p.G554E|NOX5_uc010bid.2_Missense_Mutation_p.G537E|NOX5_uc010bie.2_Missense_Mutation_p.G372E|NOX5_uc002arr.2_Missense_Mutation_p.G544E|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	572	FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGGCCTTATGGGACCCCCACC	0.597000														32			18		0	0	0.000586117	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610462	54610462	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:54610462C>T	uc022adk.1	+	0	444	c.39C>T	c.(37-39)ttC>ttT	p.F13F	VSTM2A_uc010kzf.3_Silent_p.F13F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	13						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GATTTGTTTTCTTTTCCGTTT	0.428000														87			34		0	0	0.000692331	0	0
GABRA6	2559	broad.mit.edu	37	5	161116153	161116153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:161116153G>A	uc003lyu.2	+	3	762	c.424G>A	c.(424-426)Gga>Aga	p.G142R	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	142					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)	AATGCAGAATGGAACCATTTT	0.373000										TCGA Ovarian(5;0.080)				29			9		0	0	0.000442599	0	0
GNG7	2788	broad.mit.edu	37	19	2515087	2515087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:2515087G>A	uc002lwd.2	-	4	377	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_052847	NP_443079	O60262	GBG7_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA.	47					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		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)		GACCAGCAGGGGGTCGTTCCG	0.498000														79			25		0	0	0.000279167	0	0
GK2	2712	broad.mit.edu	37	4	80328264	80328264	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:80328264A>T	uc003hlu.3	-	0	1109	c.1091T>A	c.(1090-1092)tTt>tAt	p.F364Y		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	364					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAACCCTGAAAAGGCTGGGAC	0.418000														42			36		0	0	0.000374591	0	0
NUP153	9972	broad.mit.edu	37	6	17633028	17633028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:17633028G>A	uc003ncd.1	-	16	2712	c.2512C>T	c.(2512-2514)Cct>Tct	p.P838S	NUP153_uc011dje.1_Missense_Mutation_p.P869S|NUP153_uc010jpl.1_Missense_Mutation_p.P796S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	838					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCTCCAGAAGGCAGAGAGACA	0.438000														43			17		0	0	0.00074312	0	0
PJA2	9867	broad.mit.edu	37	5	108714072	108714072	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:108714072G>C	uc003kos.4	-	3	1336	c.1116C>G	c.(1114-1116)gaC>gaG	p.D372E		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	372					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)		AGAACATACAGTCATGCTCTC	0.403000														77			28		0	0	0.000279167	0	0
AKR7A2	8574	broad.mit.edu	37	1	19634998	19634998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:19634998C>T	uc001bbw.3	-	1	459	c.437G>A	c.(436-438)gGc>gAc	p.G146D	AKR7A2_uc009vpi.1_Missense_Mutation_p.G146D	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	146					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGGGGTGCCGTGGTCAGG	0.612000														6			8		0	0	0.000274275	0	0
ST5	6764	broad.mit.edu	37	11	8728700	8728700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:8728700C>T	uc001mgt.3	-	12	2689	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	ST5_uc009yfr.3_Missense_Mutation_p.E415K|ST5_uc001mgu.3_Missense_Mutation_p.E415K|ST5_uc001mgv.3_Missense_Mutation_p.E835K|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.E348K|ST5_uc009yfs.3_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	835	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGGGCGACTCCATGAGACTT	0.582000														25			12		0	0	0.00010058	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378505	114378505	+	Silent	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:114378505A>G	uc003pwg.4	-	1	989	c.957T>C	c.(955-957)tcT>tcC	p.S319S	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.S319S	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	319					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)		TAGTAATGACAGAGGGGTCCA	0.413000														33			14		0	0	0.000219431	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010501	73010501	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:73010501A>T	uc003tyn.1	-	12	2088	c.2040T>A	c.(2038-2040)agT>agA	p.S680R	MLXIPL_uc003tyj.1_Missense_Mutation_p.S59R|MLXIPL_uc003tyk.1_Missense_Mutation_p.S678R|MLXIPL_uc003tym.1_Missense_Mutation_p.S680R|MLXIPL_uc003tyl.1_Missense_Mutation_p.S678R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S586R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	680					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)				TGGGCTGGGCACTGAGTGTGC	0.632000														18			11		0	0	0.000673444	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053566	106053566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106053566G>A	uc001yrt.3	-	3	780	c.749C>T	c.(748-750)cCc>cTc	p.P250L	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		CACATCCTTGGGGCTGAAGCC	0.682000														26			8		0	0	0.000274275	0	0
EPHA6	285220	broad.mit.edu	37	3	97167434	97167434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:97167434C>T	uc010how.1	+	6	1797	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	490						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S491Y(2)|p.S585Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGACCTACTCTTCCACAAGG	0.438000														39			18		0	0	0.000958276	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083342	114083342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:114083342G>A	uc001vtq.1	-	3	658	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	ADPRHL1_uc001vtp.1_Nonsense_Mutation_p.Q109*	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	191					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTCCCCCACTGGACCAGGGGC	0.667000														8			10		0	0	0.000442599	0	0
JUP	3728	broad.mit.edu	37	17	39912437	39912437	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:39912437G>A	uc002hxq.2	-	12	2353	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.P692P|JUP_uc002hxs.2_Silent_p.P692P	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	692					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.E691del(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCTCCATAGGGCTCATTGA	0.557000														15			15		0	0	0.000308642	0	0
LRG1	116844	broad.mit.edu	37	19	4538804	4538804	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:4538804G>A	uc002mau.3	-	1	203	c.192C>T	c.(190-192)ggC>ggT	p.G64G	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	64			G -> S (in dbSNP:rs7251081).			extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCAGGTAGCCGGGGATTT	0.627000														27			14		0	0	0.000566183	0	0
PTPRD	5789	broad.mit.edu	37	9	8486102	8486102	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:8486102C>T	uc003zkk.3	-	27	3458	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	905	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACCATCTCCTCCCCAAAGC	0.463000										TSP Lung(15;0.13)				13			8		0	0	0.000157383	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404398	34404398	+	RNA	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:34404398C>T	uc002edv.1	-	0		c.365G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		ACTTCCCACTCTTGTAGAAGC	0.498000														28			6		0	0	8.12818e-05	0	0
MBTD1	54799	broad.mit.edu	37	17	49278985	49278985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:49278985G>A	uc002itr.4	-	11	1536	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	MBTD1_uc002itp.4_Missense_Mutation_p.L234F|MBTD1_uc002itq.4_Missense_Mutation_p.L398F	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTGTAGAAAGATTTAATGGG	0.328000														94			76		0	0	0.000781405	0	0
MIER2	54531	broad.mit.edu	37	19	308815	308815	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:308815G>A	uc002lok.1	-	10	1104	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCGGACGGGACGTACTTCC	0.682000														14			5		0	0	0.000602214	0	0
HCK	3055	broad.mit.edu	37	20	30672208	30672208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:30672208C>T	uc002wxh.3	+	7	934	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	HCK_uc010gdy.3_Missense_Mutation_p.L213F|HCK_uc021wbv.1_Missense_Mutation_p.L212F|HCK_uc002wxi.3_Missense_Mutation_p.L211F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	233	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAACGACGGGCTCTGCCAGAA	0.597000														8			6		0	0	0.000274275	0	0
OR8G1	26494	broad.mit.edu	37	11	124121107	124121107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:124121107C>T	uc001pzx.3	+	0	685	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCTCCACATTCGCTCCACTGA	0.463000														26			27		0	0	0.000184323	0	0
FGF18	8817	broad.mit.edu	37	5	170883684	170883684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:170883684G>A	uc003mbk.3	+	4	1036	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.R166W(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGACCCGGGAGAACCAGCA	0.617000														46			15		0	0	0.000566183	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293100	27293100	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:27293100C>T	uc010jqt.3	+	0	561	c.39C>T	c.(37-39)tcC>tcT	p.S13S		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CCAGCAAATCCACTAATGTTG	0.348000														116			50		0	0	0.000781405	0	0
ADAM18	8749	broad.mit.edu	37	8	39468101	39468101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:39468101C>T	uc003xni.3	+	5	453	c.398C>T	c.(397-399)tCa>tTa	p.S133L	ADAM18_uc003xnh.3_Missense_Mutation_p.S133L|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.S133L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	133					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAGAATCTTCAGCAAGATTT	0.303000														34			20		0	0	0.000132079	0	0
CLGN	1047	broad.mit.edu	37	4	141317331	141317331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:141317331C>T	uc011chi.2	-	9	1131	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CLGN_uc003iii.3_Missense_Mutation_p.D305N	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	305					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACACTTGAATCTTCTATTTGG	0.353000														115			47		0	0	0.000781405	0	0
FBLN7	129804	broad.mit.edu	37	2	112942913	112942913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:112942913C>T	uc002tho.1	+	6	1215	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBLN7_uc010fki.1_Missense_Mutation_p.P269L|FBLN7_uc010fkj.1_Missense_Mutation_p.P181L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	315	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGACGTCTCCATTGTGAGTA	0.587000														23			9		0	0	0.000442599	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454642	84454642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:84454642G>A	uc001vlk.3	-	0	1887	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	334	LRRNT 2.					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)		GTTAGCTAAGGGTTTGTTCCT	0.552000														47			28		0	0	0.000184323	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215667	208215667	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:208215667G>A	uc001hgz.3	-	21	4820	c.4062C>T	c.(4060-4062)ctC>ctT	p.L1354L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1354					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)		GCTGGGCAAAGAGCTTCAGGG	0.622000														16			13		0	0	0.000219431	0	0
BSN	8927	broad.mit.edu	37	3	49699687	49699687	+	Missense_Mutation	SNP	G	A	A	rs142290203		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:49699687G>A	uc003cxe.4	+	5	10523	c.10409G>A	c.(10408-10410)cGg>cAg	p.R3470Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3470					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R3470W(1)		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)		GAAAGGGAACGGGAGGCTGTG	0.637000														18			16		0	0	0.000422831	0	0
COMP	1311	broad.mit.edu	37	19	18897086	18897086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:18897086C>T	uc002nke.3	-	11	1306	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	COMP_uc002nkd.3_Missense_Mutation_p.D391N|COMP_uc010xqj.2_Missense_Mutation_p.D371N	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	424					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCACAAAGTCGTGGTCCACA	0.592000														23			9		0	0	0.000673444	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														22			14		0	0	0.000422831	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	A	A	rs144536521		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141673385G>A	uc003vwx.1	-	0	189	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	35					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)					CCAAGAAAACGAAGGCATTGG	0.483000														35			14		0	0	0.000151284	0	0
DHDH	27294	broad.mit.edu	37	19	49442734	49442734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49442734C>T	uc002ple.1	+	3	435	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	132					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TTTCCTGCCTCCGAGGCTCTG	0.567000														61			26		0	0	0.000279167	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509276	110509276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:110509276G>A	uc003yne.3	+	63	10560	c.10456G>A	c.(10456-10458)Gat>Aat	p.D3486N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3486					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)			GACATGCTGGGATTATGGAAT	0.338000										HNSCC(38;0.096)				66			26		0	0	0.000878237	0	0
PER2	8864	broad.mit.edu	37	2	239164311	239164311	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:239164311C>T	uc002vyc.3	-	17	2544	c.2307G>A	c.(2305-2307)caG>caA	p.Q769Q	PER2_uc010znv.1_Silent_p.Q769Q	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	769	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GTTCACTTGGCTGCCCCTTGG	0.413000														40			31		0	0	0.000319135	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169700	57169700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:57169700C>T	uc001cyk.4	+	6	916	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	282					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGACCCTTCCTATGATGCT	0.363000														86			44		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13820577	13820577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13820577G>A	uc003jfd.2	-	40	6761	c.6719C>T	c.(6718-6720)cCt>cTt	p.P2240L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2240	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2240T(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)					CAGTTTCCAAGGAGGATGGTT	0.517000									Kartagener syndrome					23			16		0	0	0.000566183	0	0
AADACL4	343066	broad.mit.edu	37	1	12725981	12725981	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:12725981G>C	uc001auf.3	+	3	459	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	153						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)		GGTACCGCAAGCTTCCTGACC	0.527000														27			10		0	0	0.000978159	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:78010772C>T	uc022bzj.1	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_uc010nme.3_Missense_Mutation_p.R136C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000														32			30		0	0	0.000814825	0	0
MICALCL	84953	broad.mit.edu	37	11	12316175	12316175	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:12316175C>T	uc001mkg.1	+	2	1488	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	399					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTTTTTCCTCCCTCAGACTCA	0.458000														67			36		0	0	0.000270559	0	0
ADSSL1	122622	broad.mit.edu	37	14	105213306	105213306	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:105213306G>T	uc001ypd.3	+	12	1414	c.1340G>T	c.(1339-1341)gGc>gTc	p.G447V	ADSSL1_uc001ype.3_Missense_Mutation_p.G490V|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	447					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)	GTTGGTGTTGGCAAGTCAAGA	0.463000														54			18		5.26018e-13	4.91381e-12	0.000229342	1	0
PCDH15	65217	broad.mit.edu	37	10	55945005	55945005	+	Silent	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:55945005A>T	uc010qhy.1	-	12	1739	c.1344T>A	c.(1342-1344)ctT>ctA	p.L448L	PCDH15_uc010qhq.2_Silent_p.L448L|PCDH15_uc010qhr.2_Silent_p.L443L|PCDH15_uc021pqv.1_Silent_p.L443L|PCDH15_uc021pqw.1_Silent_p.L455L|PCDH15_uc010qht.2_Silent_p.L450L|PCDH15_uc021pqx.1_Silent_p.L443L|PCDH15_uc001jjv.1_Silent_p.L421L|PCDH15_uc021pqy.1_Silent_p.L443L|PCDH15_uc021pqz.1_Silent_p.L421L|PCDH15_uc010qhv.1_Silent_p.L443L|PCDH15_uc010qhw.1_Silent_p.L406L|PCDH15_uc010qhx.1_Silent_p.L443L|PCDH15_uc010qhz.1_Silent_p.L443L|PCDH15_uc010qia.1_Silent_p.L421L|PCDH15_uc001jju.1_Silent_p.L443L|PCDH15_uc010qib.1_Silent_p.L421L|PCDH15_uc001jjw.3_Silent_p.L443L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	443	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTCAGAAAAAGGTGAAGCT	0.383000										HNSCC(58;0.16)				24			21		0	0	0.000586117	0	0
GPR179	440435	broad.mit.edu	37	17	36495317	36495317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:36495317C>T	uc002hpz.3	-	1	907	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGTTGAGATCACACAGGTGT	0.587000														22			13		0	0	0.000308642	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:2820047G>A	uc022aqr.1	-	60	9959	c.9569C>T	c.(9568-9570)tCc>tTc	p.S3190F	CSMD1_uc011kwj.2_Missense_Mutation_p.S2520F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1082F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3191	Sushi 26.					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)		TCTTCTGGAGGATCCCACGAG	0.502000														24			8		0	0	0.000274275	0	0
TRIM51	84767	broad.mit.edu	37	11	55655644	55655644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55655644G>A	uc010rip.2	+	3	736	c.644G>A	c.(643-645)aGc>aAc	p.S215N	TRIM51_uc010riq.2_Missense_Mutation_p.S72N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	215						intracellular	zinc ion binding										CTCAATGAAAGCAAAGCCAGA	0.448000														29			11		0	0	0.000151284	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734737	16734737	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:16734737C>T	uc010vwr.1	-	2	838	c.396G>A	c.(394-396)agG>agA	p.R132R						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		CGTGGTTCTTCCTCAGGTAGG	0.622000														26			5		0	0	3.59834e-05	0	0
ATG2B	55102	broad.mit.edu	37	14	96775866	96775866	+	Silent	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:96775866T>C	uc001yfi.3	-	28	4592	c.4227A>G	c.(4225-4227)ttA>ttG	p.L1409L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1409										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCAGATCTCGTAACATTTGTT	0.438000														45			23		0	0	0.000295444	0	0
CKAP4	10970	broad.mit.edu	37	12	106633846	106633846	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:106633846G>A	uc001tlk.3	-	1	849	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	255						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTCTGTGAAGATGGCGA	0.547000														69			38		0	0	0.000953801	0	0
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:100061937G>A	uc001pga.3	+	13	2164	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_uc009ywv.2_Missense_Mutation_p.E554K|CNTN5_uc001pfz.3_Missense_Mutation_p.E554K|CNTN5_uc021qpb.1_Missense_Mutation_p.E554K|CNTN5_uc021qpc.1_Missense_Mutation_p.E480K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G553G(1)		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)		TTGCCGAGGGGAAAACGTCTT	0.408000														56			12		0	0	0.000978159	0	0
KALRN	8997	broad.mit.edu	37	3	124157777	124157777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:124157777G>A	uc003ehg.3	+	17	3212	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	KALRN_uc010hrv.1_Missense_Mutation_p.D1020N|KALRN_uc003ehf.1_Missense_Mutation_p.D1029N|KALRN_uc011bjy.1_Missense_Mutation_p.D1020N|KALRN_uc003ehh.1_Missense_Mutation_p.D375N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1029					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACCGGAGAGATGAGGACTG	0.453000														26			8		0	0	0.000442599	0	0
RIN3	79890	broad.mit.edu	37	14	93118768	93118768	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:93118768C>T	uc001yap.3	+	5	1526	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	RIN3_uc010auk.3_Silent_p.V120V|RIN3_uc001yaq.3_Silent_p.V383V|RIN3_uc001yar.1_Silent_p.V120V|RIN3_uc001yas.1_Silent_p.V120V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	458	Pro-rich.				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)				AACCCCCAGTCCCGCCCCCCA	0.627000														20			17		0	0	0.000229342	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444623	82444623	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:82444623A>C	uc002bgt.1	-	17	2341	c.2172T>G	c.(2170-2172)gaT>gaG	p.D724E	EFTUD1_uc002bgu.1_Missense_Mutation_p.D673E	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	724					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTGCTTTGATCTTCTTTCA	0.428000														110			58		0	0	0.000781405	0	0
CFHR1	3078	broad.mit.edu	37	1	196759338	196759338	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:196759338G>A	uc001gtl.3	+	4	864	c.777G>A	c.(775-777)tcG>tcA	p.S259S	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Silent_p.S198S|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	257	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAGAGTGGTCGGAACCACCAA	0.358000														60			14		0	0	0.000184323	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338415	72338416	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:72338415_72338416GG>TT	uc010iic.3	+	14	1749	c.1632_splice	c.e14-1	p.K544_splice	SLC4A4_uc003hfy.3_Splice_Site_p.K544_splice|SLC4A4_uc010iib.3_Splice_Site_p.K544_splice|SLC4A4_uc003hfz.3_Splice_Site_p.K544_splice|SLC4A4_uc003hgc.4_Splice_Site_p.K500_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Splice_Site_p.K422_splice|SLC4A4_uc003hgb.3_Splice_Site_p.K500_splice	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	544						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)			CTTTTTTCCAGGGACAATAATT	0.381000														206			8		0	0	6.4e-05	0	0
RGS7	6000	broad.mit.edu	37	1	241146407	241146407	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:241146407C>T	uc001hyv.2	-	3	528	c.198G>A	c.(196-198)ttG>ttA	p.L66L	RGS7_uc010pyh.2_Silent_p.L40L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L66L|RGS7_uc009xgn.1_Silent_p.L66L|RGS7_uc001hyw.2_Silent_p.L66L	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	66	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGTTCTTTATCAACCATTGAA	0.284000														10			11		0	0	0.00010058	0	0
PIGG	54872	broad.mit.edu	37	4	502697	502697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:502697C>T	uc003gak.4	+	4	975	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PIGG_uc003gaj.4_Missense_Mutation_p.S280F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S147F|PIGG_uc003gal.4_Missense_Mutation_p.S191F|PIGG_uc011buw.2_Missense_Mutation_p.S158F|PIGG_uc003gam.3_Missense_Mutation_p.S191F|PIGG_uc003gan.3_Missense_Mutation_p.S191F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	280					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CACGGGGCCTCCTCCACCGAG	0.443000														34			4		0	0	0.00024832	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203886	5203886	+	RNA	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:5203886C>T	uc009xhz.2	-	2		c.394G>A								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						CTTCAGTGACCTTTCTAGGGC	0.408000														17			8		0	0	0.000274275	0	0
NOTCH3	4854	broad.mit.edu	37	19	15289986	15289986	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15289986G>C	uc002nan.3	-	21	3644	c.3568C>G	c.(3568-3570)Cgc>Ggc	p.R1190G	NOTCH3_uc002nao.1_Missense_Mutation_p.R1138G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1190	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGTGCAGCGGAAACCACCC	0.642000														10			4		0	0	0.00024832	0	0
ZNF225	7768	broad.mit.edu	37	19	44635078	44635079	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:44635078_44635079GG>TT	uc002oyj.1	+	4	554_555	c.311_312GG>TT	c.(310-312)tgg>tTT	p.W104F	ZNF225_uc010ejf.1_Missense_Mutation_p.W104F	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CATCAAACCTGGGAACAAATTT	0.421000														104			6		0	0	6.4e-05	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764281	120764282	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:120764281_120764282GG>TT	uc003eec.4	+	5	510	c.370_splice	c.e5-1	p.G124_splice	STXBP5L_uc011bji.2_Splice_Site_p.G124_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	124					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTGTTCTAGGGTGCCTTGGT	0.356000														245			11		0	0	6.4e-05	0	0
CASR	846	broad.mit.edu	37	3	122002865	122002865	+	Silent	SNP	C	T	T	rs150869744	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:122002865C>T	uc003eew.4	+	6	2532	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CASR_uc003eev.4_Silent_p.F688F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	688					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)	GCATCAGCTTCGTGCTCTGCA	0.612000														84			21		0	0	0.000375601	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073042	17073042	+	Silent	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:17073042C>A	uc002zlp.1	-	0	659	c.399G>T	c.(397-399)cgG>cgT	p.R133R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	133					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGTAGGCCTCCCGGAGCTGCG	0.647000														15			11		1.15088e-07	1.06891e-06	0.000422831	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282951	69282951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:69282951G>A	uc004dxu.1	+	0	611	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	193	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CAGCAACCCCGAGACCAGCGA	0.617000														6			17		0	0	0.000132079	0	0
LIM2	3982	broad.mit.edu	37	19	51883892	51883892	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51883892G>A	uc002pwl.2	-	4	496	c.452_splice	c.e4-1	p.T151_splice	LIM2_uc002pwm.2_Splice_Site_p.T109_splice	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	109					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)		CGACGAAAAGGGCTGgggaga	0.602000														19			6		0	0	3.59834e-05	0	0
FGFR3	2261	broad.mit.edu	37	4	1808278	1808278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:1808278C>T	uc003gdr.3	+	15	2292	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	FGFR3_uc003gdu.2_Missense_Mutation_p.S681F|FGFR3_uc003gds.3_Missense_Mutation_p.S567F|FGFR3_uc003gdq.3_Silent_p.V656V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	679	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGCAGCTGGTCCTTTGGGGTC	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					16			7		0	0	0.000157383	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409006	17409006	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:17409006G>A	uc001mna.3	-	0	1201	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNJ11_uc001mnb.4_Silent_p.I124I	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	124						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGTGGCGCTGATGATCATGC	0.637000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			88		0	0	0.000781405	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117988150	117988150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:117988150G>A	uc021qrd.1	+	11	1574	c.1283G>A	c.(1282-1284)tGg>tAg	p.W428*	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Nonsense_Mutation_p.W423*|TMPRSS4_uc010rxo.2_Nonsense_Mutation_p.W426*|TMPRSS4_uc010rxs.2_Nonsense_Mutation_p.W388*|TMPRSS4_uc010rxq.2_Nonsense_Mutation_p.W281*|TMPRSS4_uc010rxr.2_Nonsense_Mutation_p.W403*|TMPRSS4_uc010rxt.2_Nonsense_Mutation_p.W403*	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	428	Peptidase S1.				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)		TATCTCAACTGGATCTACAAT	0.562000														32			26		0	0	0.000184323	0	0
OR5J2	282775	broad.mit.edu	37	11	55944581	55944581	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55944581T>G	uc010rjb.2	+	0	488	c.488T>G	c.(487-489)tTg>tGg	p.L163W		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACAATCAGCTTGAGGAGACTG	0.433000														55			24		0	0	0.00106085	0	0
TACR3	6870	broad.mit.edu	37	4	104512789	104512789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:104512789G>A	uc003hxe.1	-	3	1081	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	314						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)		ATATGATAGGGCAGCCAGCAG	0.343000														21			17		0	0	0.000958276	0	0
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:23811327C>T	uc001ywh.4	+	0	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S133L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627000														22			9		0	0	0.000673444	0	0
DNAH11	8701	broad.mit.edu	37	7	21598537	21598537	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:21598537A>G	uc003svc.3	+	2	644	c.613A>G	c.(613-615)Aaa>Gaa	p.K205E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	205	Stem (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						TTTTAGGGGCAAAATGTCTAG	0.348000									Kartagener syndrome					10			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9061944	9061944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9061944G>A	uc002mkp.3	-	2	25706	c.25502C>T	c.(25501-25503)tCt>tTt	p.S8501F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8503	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						AGCCCCAGGAGAACCTGTCTC	0.488000														93			47		0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92531315	92531315	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:92531315G>A	uc001pdj.4	+	8	5153	c.5136G>A	c.(5134-5136)ggG>ggA	p.G1712G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1712	Cadherin 15.				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)				ACATTAATGGGATCTTTACCA	0.393000										TCGA Ovarian(4;0.039)				347			419		0	0	0.000781405	0	0
NMUR2	56923	broad.mit.edu	37	5	151784009	151784009	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:151784009G>A	uc003luv.2	-	0	832	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	222					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)			GGTAGAATAGGAAGGAGGTGA	0.542000														51			21		0	0	0.000175454	0	0
CHRM2	1129	broad.mit.edu	37	7	136700442	136700442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:136700442G>A	uc003vtf.1	+	3	1453	c.830G>A	c.(829-831)gGa>gAa	p.G277E	CHRM2_uc003vtg.1_Missense_Mutation_p.G277E|CHRM2_uc003vti.1_Missense_Mutation_p.G277E|CHRM2_uc003vtm.1_Missense_Mutation_p.G277E|CHRM2_uc003vtj.1_Missense_Mutation_p.G277E|CHRM2_uc003vtk.1_Missense_Mutation_p.G277E|CHRM2_uc003vtl.1_Missense_Mutation_p.G277E|CHRM2_uc003vtn.1_Missense_Mutation_p.G277E|CHRM2_uc003vto.1_Missense_Mutation_p.G277E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G277E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	277					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGTGTTCAGGGAGAGGAGAAG	0.478000														29			8		0	0	0.000274275	0	0
ADAM7	8756	broad.mit.edu	37	8	24350025	24350025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:24350025G>A	uc003xeb.3	+	14	1683	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	ADAM7_uc003xec.3_Missense_Mutation_p.D296N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	524	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAGAGTCATGATATCTGCTA	0.328000														89			45		0	0	0.000781405	0	0
SPATA16	83893	broad.mit.edu	37	3	172694798	172694798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:172694798C>T	uc003fin.4	-	4	1077	c.893G>A	c.(892-894)aGg>aAg	p.R298K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	298					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCTCTCTTCCCTTCCTCCACC	0.398000														109			35		0	0	0.000228196	0	0
ZNF831	128611	broad.mit.edu	37	20	57769021	57769021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:57769021G>A	uc002yan.3	+	0	2947	c.2947G>A	c.(2947-2949)Gga>Aga	p.G983R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	983						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)					TGTTGGGTCAGGACTGGGGAC	0.642000														17			15		0	0	0.000219431	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519211	113519211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:113519211G>A	uc010ljy.1	-	3	1967	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	646					glycogen metabolic process	integral to membrane		p.D645Y(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						CTATTATCCTGATCTTCAGAA	0.353000														66			34		0	0	0.00058488	0	0
CXCR7	57007	broad.mit.edu	37	2	237490141	237490141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:237490141G>A	uc021vys.1	+	0	1033	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	CXCR7_uc010fyq.3_Missense_Mutation_p.D345N|CXCR7_uc002vwd.3_Missense_Mutation_p.D345N	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	345					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)		CAAGCTCATCGATGCCTCCAG	0.522000														8			12		0	0	0.000308642	0	0
TLE6	79816	broad.mit.edu	37	19	2989288	2989288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:2989288C>T	uc002lwt.2	+	11	1079	c.970C>T	c.(970-972)Cct>Tct	p.P324S	TLE6_uc002lwu.2_Missense_Mutation_p.P201S	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	201					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GGACAGGTTCCCTGAGAGCCA	0.607000														23			11		0	0	0.000673444	0	0
GRID2	2895	broad.mit.edu	37	4	94411804	94411804	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:94411804T>A	uc011cdt.2	+	11	2131	c.1873T>A	c.(1873-1875)Tac>Aac	p.Y625N	GRID2_uc011cdu.2_Missense_Mutation_p.Y530N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	625					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAGTCCCGTACACGACTCT	0.423000														80			25		0	0	0.000878237	0	0
HMGCR	3156	broad.mit.edu	37	5	74645866	74645867	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	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														347			10		0	0	6.4e-05	0	0
OR8K3	219473	broad.mit.edu	37	11	56086283	56086283	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56086283C>T	uc010rjf.2	+	0	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACTTTATCCTTCTGTGGCT	0.368000														81			35		0	0	0.000270559	0	0
PDE1C	5137	broad.mit.edu	37	7	31848648	31848648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:31848648C>T	uc003tcm.2	-	15	2349	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	PDE1C_uc003tcn.1_Missense_Mutation_p.D630N|PDE1C_uc003tco.2_Missense_Mutation_p.D690N|PDE1C_uc003tcr.3_Missense_Mutation_p.D630N|PDE1C_uc003tcs.3_Missense_Mutation_p.D630N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	630					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)			CTCTTACCATCTGTTTTCTTT	0.308000														32			11		0	0	0.00010058	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707585	96707585	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:96707585G>A	uc001kka.4	+	3	556	c.531G>A	c.(529-531)gtG>gtA	p.V177V	CYP2C9_uc009xut.3_Silent_p.V177V	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	177					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)	CCTGCAATGTGATCTGCTCCA	0.328000														53			45		0	0	0.000781405	0	0
OR4A47	403253	broad.mit.edu	37	11	48510813	48510813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:48510813C>T	uc010rhx.2	+	0	469	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCAGTATTTCAACTTAGCAT	0.433000														38			21		0	0	0.000175454	0	0
CMYA5	202333	broad.mit.edu	37	5	79027102	79027102	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:79027102G>A	uc003kgc.3	+	1	2586	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	838						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGACGGCAAGGAGGTCATTG	0.458000														32			15		0	0	0.000219431	0	0
NPTX2	4885	broad.mit.edu	37	7	98254422	98254422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:98254422G>A	uc003upl.2	+	2	1009	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	278	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGGCCAACGAGATCGTGCT	0.637000														31			6		0	0	3.59834e-05	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182186	100182186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:100182186G>A	uc001ygo.3	+	7	733	c.733G>A	c.(733-735)Gag>Aag	p.E245K	CYP46A1_uc001ygp.3_Missense_Mutation_p.E92K	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	245					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.E245K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGGTCCGGGAGAGCATTCG	0.627000														27			11		0	0	0.000673444	0	0
CPNE1	8904	broad.mit.edu	37	20	34219678	34219679	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:34219678_34219679GG>AA	uc010zvj.2	-	6	940_941	c.573_574CC>TT	c.(571-576)aaccct>aaTTct	p.P192S	CPNE1_uc002xde.3_Missense_Mutation_p.P163S|CPNE1_uc002xdf.3_Missense_Mutation_p.P187S|CPNE1_uc002xdi.3_Missense_Mutation_p.P187S|CPNE1_uc002xdj.3_Missense_Mutation_p.P187S|CPNE1_uc002xdl.3_Missense_Mutation_p.P187S|CPNE1_uc002xdm.3_Missense_Mutation_p.P187S|CPNE1_uc010gfk.2_Missense_Mutation_p.P187S	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	187	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCCATGTAGGGTTCAGGTTGT	0.589000														35			12		0	0	6.4e-05	0	0
DSPP	1834	broad.mit.edu	37	4	88533671	88533671	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:88533671G>A	uc003hqu.3	+	3	453	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	111					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GCTGGAATGGGGACACAGGAA	0.438000														9			10		0	0	0.000673444	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:173494046G>A	uc001giz.2	-	19	2809	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_uc009wwe.2_Missense_Mutation_p.R354C|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000														72			12		0	0	0.000151284	0	0
HYDIN	54768	broad.mit.edu	37	16	70926427	70926427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:70926427G>A	uc002ezr.3	-	55	9402	c.9251C>T	c.(9250-9252)tCc>tTc	p.S3084F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3085										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)				AGAGTCCACGGAAAAGCTGAA	0.448000														28			11		0	0	0.000151284	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37418873	37418873	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:37418873C>T	uc021ppc.1	+	1	205	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	ANKRD30A_uc001iza.1_Silent_p.L36L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTAACATTTCTGGTAGACAG	0.468000														18			9		0	0	0.000978159	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744961	140744961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140744961C>T	uc003lju.2	+	0	1064	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	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_uc011das.2_Missense_Mutation_p.S355L	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	358	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)			CTGACCAGTTCGATCTCTGAA	0.512000														36			11		0	0	0.000673444	0	0
RLF	6018	broad.mit.edu	37	1	40704907	40704907	+	Silent	SNP	T	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:40704907T>C	uc001cfc.4	+	7	4564	c.4533T>C	c.(4531-4533)ttT>ttC	p.F1511F	RLF_uc001cfd.4_Silent_p.F1202F	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1511					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGATCATTTAATGCTAAGT	0.418000														47			22		0	0	0.000295444	0	0
DNAH5	1767	broad.mit.edu	37	5	13721112	13721112	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13721112C>T	uc003jfd.2	-	70	12318	c.12276G>A	c.(12274-12276)gcG>gcA	p.A4092A	DNAH5_uc003jfc.2_Silent_p.A260A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4092	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)					GCCTTACGTTCGCCATGGTCT	0.418000									Kartagener syndrome					36			18		0	0	0.000132079	0	0
GRM8	2918	broad.mit.edu	37	7	126542709	126542709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:126542709C>T	uc003vlr.2	-	4	1354	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R348Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R69Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	348					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCAAGAGTTCGGCTTCTAAA	0.343000										HNSCC(24;0.065)				47			10		0	0	0.000673444	0	0
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:61832871C>T	uc001jky.3	-	36	8106	c.7768G>A	c.(7768-7770)Gaa>Aaa	p.E2590K	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.	2590					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						TGTGACACTTCAGTCAGTTTT	0.418000														18			21		0	0	0.000175454	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826360	22826360	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:22826360G>A	uc002dli.3	+	0	501	c.429G>A	c.(427-429)ttG>ttA	p.L143L		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	143						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGCGGGCCTTGGGCACGGAAC	0.647000														18			6		0	0	0.000673444	0	0
ZNF284	342909	broad.mit.edu	37	19	44590614	44590614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:44590614C>T	uc002oyg.1	+	4	1199	c.983C>T	c.(982-984)tCa>tTa	p.S328L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGTCAGAGATCAGCACTTAAT	0.378000														14			20		0	0	0.000958276	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478788	141478788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141478788C>T	uc003vwq.1	+	0	500	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	167					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AATAACACATCATTTAATATC	0.428000														121			62		0	0	0.000781405	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874253	74874253	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:74874253C>T	uc001xpx.2	-	3	950	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	234					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CATGACCGTTCTGGGACATGT	0.647000														33			10		0	0	0.000673444	0	0
MARCO	8685	broad.mit.edu	37	2	119731950	119731950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:119731950C>T	uc002tln.1	+	4	634	c.502C>T	c.(502-504)Cct>Tct	p.P168S	MARCO_uc010yyf.1_Missense_Mutation_p.P90S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	168	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.A167S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCCTGGTGCCCCTGGCCCGCC	0.567000														8			3		0	0	0.00024832	0	0
CA4	762	broad.mit.edu	37	17	58227437	58227437	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:58227437G>A	uc002iym.4	+	0	136	c.42G>A	c.(40-42)cgG>cgA	p.R14R	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	14			R -> W (in RP17; abolishes interaction with SLC4A4. Impaired SLC4A4 cotransporter activity stimulation).		bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCGCGGCGCGGCCATCGGCCA	0.761000														26			7		0	0	0.000274275	0	0
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:38954593C>T	uc002hvh.1	-	2	650	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.N194N(2)|p.G195R(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498000														69			22		0	0	0.000295444	0	0
LHX8	431707	broad.mit.edu	37	1	75608860	75608860	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75608860C>T	uc001dgo.3	+	5	1111	c.447C>T	c.(445-447)gtC>gtT	p.V149V	LHX8_uc021oou.1_Silent_p.V149V|LHX8_uc001dgq.3_Silent_p.V88V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGACTGGGTCCGGAGAGCCA	0.468000														53			24		0	0	0.000227799	0	0
SORL1	6653	broad.mit.edu	37	11	121495950	121495950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:121495950G>A	uc001pxx.3	+	45	6457	c.6328G>A	c.(6328-6330)Gag>Aag	p.E2110K	SORL1_uc010rzp.1_Missense_Mutation_p.E956K|SORL1_uc010rzq.1_Missense_Mutation_p.E725K	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2110	Fibronectin type-III 6.				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)		GATCTGTGGGGAGCCTGCCAT	0.463000														20			28		0	0	0.000339439	0	0
DZIP1	22873	broad.mit.edu	37	13	96293641	96293641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:96293641C>T	uc001vmk.3	-	4	1357	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DZIP1_uc001vml.3_Missense_Mutation_p.E169K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	169					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTCTTGATCTCCCCCGCCTGC	0.602000														10			7		0	0	8.12818e-05	0	0
EPHA3	2042	broad.mit.edu	37	3	89445047	89445048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:89445047_89445048CC>TT	uc003dqy.3	+	5	1592_1593	c.1367_1368CC>TT	c.(1366-1368)tcc>tTT	p.S456F	EPHA3_uc003dqx.1_Missense_Mutation_p.S456F|EPHA3_uc021xbf.1_Missense_Mutation_p.S456F	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	456	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding	p.L455F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCTCTTTGTCCTGGCAAGAAC	0.465000										TSP Lung(6;0.00050)				66			35		0	0	6.4e-05	0	0
JAGN1	84522	broad.mit.edu	37	3	9934787	9934787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:9934787C>T	uc003btt.4	+	1	414	c.278C>T	c.(277-279)cCc>cTc	p.P93L	CIDEC_uc003bto.3_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	Homo sapiens jagunal homolog 1 (Drosophila) (JAGN1), mRNA.	93						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CTCTCCTTTCCCCGCAACAAC	0.517000														11			15		0	0	0.000308642	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066392	63066392	+	Splice_Site	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63066392G>T	uc009yor.3	+	5	1039	c.831_splice	c.e5-1	p.R277_splice	SLC22A10_uc010rmo.1_Splice_Site|SLC22A10_uc001nwu.4_Splice_Site|SLC22A10_uc010rmp.1_Splice_Site_p.R117_splice	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	277						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTATCAGGTGGCTGGTGG	0.383000														53			18		3.41278e-10	3.17428e-09	0.000566183	1	0
DFNB31	25861	broad.mit.edu	37	9	117185660	117185660	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:117185660G>A	uc004biy.4	-	6	1051	c.411C>T	c.(409-411)gtC>gtT	p.V137V	DFNB31_uc004bix.3_Silent_p.V169V|DFNB31_uc004biz.4_Silent_p.V520V|DFNB31_uc004bja.4_Silent_p.V520V	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	520					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACTGTAGGAGACCATGGAGT	0.632000														15			19		0	0	0.000229342	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433893	72433893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:72433893G>A	uc004ebi.3	-	0	818	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	146					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGTAAGGGTTGGTACATT	0.383000														24			41		0	0	0.000319135	0	0
NOVA1	4857	broad.mit.edu	37	14	26917454	26917454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:26917454C>T	uc001wqa.3	-	5	1655	c.869G>A	c.(868-870)gGa>gAa	p.G290E	NOVA1_uc001wpy.3_Missense_Mutation_p.G412E|NOVA1_uc001wpz.3_Missense_Mutation_p.G388E	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	415	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.G290V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTTTTCTGTTCCTAGAATGGC	0.478000														39			24		0	0	0.000720815	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967003	41967003	+	Missense_Mutation	SNP	G	A	A	rs147326861	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:41967003G>A	uc010skn.2	+	9	2430	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	PDZRN4_uc001rmq.4_Missense_Mutation_p.E550K|PDZRN4_uc009zjz.3_Missense_Mutation_p.E548K|PDZRN4_uc001rmr.3_Missense_Mutation_p.E435K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	808							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAAAGCAAGGAGAAGGTTTT	0.507000														78			41		0	0	0.000781405	0	0
AXIN1	8312	broad.mit.edu	37	16	338172	338172	+	Silent	SNP	G	A	A	rs149865527		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:338172G>A	uc002cgp.2	-	10	2928	c.2539C>T	c.(2539-2541)Ctg>Ttg	p.L847L	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.L811L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	847	DIX.				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			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)				AAGACGGGCAGGACGGCCTCG	0.607000														52			20		0	0	0.000175454	0	0
OR7G2	390882	broad.mit.edu	37	19	9213420	9213420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9213420G>A	uc010xkk.2	-	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TGTGCAGAAGGACAGCCTCAA	0.498000														22			7		0	0	0.000157383	0	0
IGSF22	283284	broad.mit.edu	37	11	18736059	18736059	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:18736059C>T	uc009yht.2	-	11	1834	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	548										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTTGCCATCCTTCAGCCACA	0.617000														62			29		0	0	0.000491102	0	0
UNC13C	440279	broad.mit.edu	37	15	54556412	54556412	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:54556412G>A	uc021smr.1	+	6	3489	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q	UNC13C_uc021sms.1_Silent_p.Q1165Q|UNC13C_uc002acl.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1165					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)		ACAAGACTCAGACCATTATTA	0.378000														10			7		0	0	0.000157383	0	0
GRM8	2918	broad.mit.edu	37	7	126173086	126173086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:126173086C>T	uc003vlr.2	-	7	2661	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G784R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	784					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGGTAAATCCAATAGGTTTG	0.408000										HNSCC(24;0.065)				31			7		0	0	8.12818e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62298301	62298301	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:62298301G>A	uc001ntl.3	-	4	3888	c.3588C>T	c.(3586-3588)tcC>tcT	p.S1196S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1196					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCAGGCATGGAGATCTTGG	0.502000														181			83		0	0	0.000781405	0	0
DSCR6	53820	broad.mit.edu	37	21	38380459	38380459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:38380459C>T	uc002yvv.3	+	1	317	c.107C>T	c.(106-108)cCc>cTc	p.P36L	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	36						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				CGTTCCAGCCCCGCGCCGTGG	0.577000														25			12		0	0	0.000219431	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64447731	64447731	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:64447731G>A	uc003jtp.3	-	24	4100	c.3286C>T	c.(3286-3288)Ctg>Ttg	p.L1096L	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1096	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTGAACTTCAGCACCAGTGGG	0.443000														55			22		0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179472269	179472269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179472269C>T	uc021vsy.1	-	225	45667	c.45442G>A	c.(45442-45444)Gac>Aac	p.D15148N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D8843N|TTN_uc021vta.1_Missense_Mutation_p.D8776N|TTN_uc021vtb.1_Missense_Mutation_p.D8651N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16075	Fibronectin type-III 10.						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)			ACAACACGGTCTTTATCCAGC	0.428000														101			93		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208003	140208003	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140208003C>T	uc003lho.2	+	0	354	c.327C>T	c.(325-327)atC>atT	p.I109I	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_uc003lhn.2_Silent_p.I109I|PCDHAC2_uc011dab.2_Silent_p.I109I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I109I(2)		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)			TGGAGGTGATCGTGGACAGGC	0.557000														74			28		0	0	0.000814825	0	0
SNPH	9751	broad.mit.edu	37	20	1285660	1285660	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:1285660C>T	uc002wet.3	+	6	1260	c.579C>T	c.(577-579)atC>atT	p.I193I	SNPH_uc002wes.3_Silent_p.I149I	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	149					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.I149I(1)|p.I193I(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGGTCATCGACACTGTCA	0.562000														51			24		0	0	0.000878237	0	0
A1CF	29974	broad.mit.edu	37	10	52566490	52566490	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:52566490C>T	uc001jjj.3	-	12	1972	c.1784G>A	c.(1783-1785)tGa>tAa	p.*595*	A1CF_uc010qho.2_Silent_p.*603*|A1CF_uc010qhn.2_Silent_p.*595*|A1CF_uc009xov.3_Silent_p.*587*|A1CF_uc001jji.3_Silent_p.*587*|A1CF_uc001jjh.3_Silent_p.*595*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAAGCATCTTCAGAAGGTGCC	0.373000														31			10		0	0	0.00010058	0	0
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:103288533C>T	uc001tjq.1	-	2	805	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	PAH_uc010swc.1_Missense_Mutation_p.R111Q	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	111					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383000														60			27		0	0	0.000409698	0	0
FRY	10129	broad.mit.edu	37	13	32841395	32841395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:32841395G>A	uc001utx.3	+	54	8531	c.8035G>A	c.(8035-8037)Gat>Aat	p.D2679N	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.D204N|FRY_uc010tdx.2_Missense_Mutation_p.D49N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCTGTGACGATGCCGAGGA	0.547000														44			35		0	0	0.000814825	0	0
WDR64	128025	broad.mit.edu	37	1	241964447	241964447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:241964447G>A	uc001hzg.2	+	26	3383	c.3176G>A	c.(3175-3177)aGa>aAa	p.R1059K	WDR64_uc021pli.1_Missense_Mutation_p.R612K	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1059										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCACGAAGAAGAAGTTTGAAA	0.378000														40			25		0	0	0.000279167	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420422	69420422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:69420422G>A	uc004afn.3	+	12	1424	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	438										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAGAGCATGATAGGTAAGC	0.378000														195			22		0	0	0.00106085	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:68956771C>T	uc003xxv.1	+	7	916	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_uc003xxu.1_Missense_Mutation_p.R297C|PREX2_uc011lez.1_Missense_Mutation_p.R232C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R297H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACCTTTTTCGTGGCCGGAT	0.398000														78			39		0	0	0.000781405	0	0
AMDHD1	144193	broad.mit.edu	37	12	96356195	96356195	+	Silent	SNP	C	T	T	rs148414685		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:96356195C>T	uc001tel.2	+	5	982	c.876C>T	c.(874-876)atC>atT	p.I292I	AMDHD1_uc009zth.2_Silent_p.I183I	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	292					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ATGAAGGCATCGTTGCCATGG	0.542000														24			12		0	0	0.00010058	0	0
FAM83B	222584	broad.mit.edu	37	6	54804615	54804615	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:54804615C>T	uc003pck.3	+	4	962	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	282										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATCCTGTGTCCCTAGTTCAT	0.438000														42			14		0	0	0.000151284	0	0
MYO3A	53904	broad.mit.edu	37	10	26457684	26457684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:26457684G>A	uc001isn.2	+	27	3515	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1052					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1052Q(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATCTAATGCGAAAGGAAGCT	0.348000														41			29		0	0	0.000339439	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62995763	62995763	+	Splice_Site	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:62995763C>A	uc003peg.2	-	1	338	c.91_splice	c.e1+1	p.E31_splice		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	31					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)		CAAGTCCTACCTTCTGCCAAA	0.572000														9			6		1.12685e-05	0.000104359	0.000274275	1	0
C1orf141	400757	broad.mit.edu	37	1	67561968	67561968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:67561968G>A	uc001ddl.1	-	4	494	c.383C>T	c.(382-384)tCt>tTt	p.S128F	C1orf141_uc001ddm.1_Missense_Mutation_p.S128F|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	128										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GAGACCAACAGAATCCAATGG	0.264000														26			14		0	0	0.000566183	0	0
SATL1	340562	broad.mit.edu	37	X	84362764	84362764	+	Missense_Mutation	SNP	G	A	A	rs150924046		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:84362764G>A	uc004een.3	-	0	1211	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	217	N-acetyltransferase.						N-acetyltransferase activity	p.S404T(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTTGTGCCTGATTGGCTGGT	0.532000														14			20		0	0	0.000132079	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:37780794G>A	uc003tfm.1	+	0	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	267						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000														61			22		0	0	0.000229342	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965529	171965529	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:171965529C>T	uc003fhy.3	+	4	643	c.471C>T	c.(469-471)ccC>ccT	p.P157P	FNDC3B_uc003fhz.4_Silent_p.P157P|FNDC3B_uc003fia.3_Silent_p.P88P	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	157						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTTTTTTCCCCAGCATCATC	0.463000														43			16		0	0	0.000566183	0	0
HSCB	150274	broad.mit.edu	37	22	29139951	29139951	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:29139951C>T	uc003aea.3	+	1	359	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	106	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CAGATTTCTTCAGCCAGAGGT	0.502000														49			27		0	0	0.00106085	0	0
MDGA1	266727	broad.mit.edu	37	6	37618128	37618128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:37618128C>T	uc003onu.1	-	7	2545	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	456	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCAGGCGATCCCTCGCGCACG	0.687000														2			5		0	0	8.12818e-05	0	0
ABRA	137735	broad.mit.edu	37	8	107782366	107782366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107782366C>T	uc003ymm.4	-	0	107	c.53G>A	c.(52-54)cGg>cAg	p.R18Q		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	18					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)			GCGTATCTTCCGGAGGGCGCT	0.617000														27			17		0	0	0.000132079	0	0
KLKB1	3818	broad.mit.edu	37	4	187172640	187172640	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:187172640G>A	uc003iyy.3	+	9	940	c.869_splice	c.e9-1	p.E290_splice	KLKB1_uc011clc.2_Splice_Site_p.E88_splice|KLKB1_uc011cld.2_Splice_Site_p.E252_splice	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	290					Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTGACACAGAACCCTGCCA	0.378000														63			16		0	0	0.000422831	0	0
LRP1B	53353	broad.mit.edu	37	2	141143474	141143474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:141143474C>T	uc002tvj.1	-	66	11491	c.10519G>A	c.(10519-10521)Gaa>Aaa	p.E3507K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3507	LDL-receptor class A 25.				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)		CAGTTTTCTTCATCTGAATTA	0.373000										TSP Lung(27;0.18)				41			21		0	0	0.000295444	0	0
CBX6	23466	broad.mit.edu	37	22	39262628	39262628	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:39262628G>A	uc003awl.3	-	4	888	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	275					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCAGCCGGAGGAGCCAGAGC	0.751000														6			3		0	0	6.4e-05	0	0
USHBP1	83878	broad.mit.edu	37	19	17373783	17373783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:17373783C>T	uc002nfs.1	-	3	333	c.220G>A	c.(220-222)Gat>Aat	p.D74N	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.D10N|USHBP1_uc010eam.1_Missense_Mutation_p.D2N	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	74							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GAGCCCCCATCCATCTTCTTG	0.547000														27			20		0	0	0.000132079	0	0
DNM3	26052	broad.mit.edu	37	1	171890961	171890961	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:171890961G>A	uc001gie.3	+	2	411	c.235_splice	c.e2+1	p.E79_splice	DNM3_uc001gid.4_Splice_Site_p.E79_splice|DNM3_uc009wwb.2_Splice_Site_p.E79_splice|DNM3_uc001gif.3_Splice_Site_p.E79_splice	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	79					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						TTCTAAAGCAGGTAATGAATG	0.433000														8			5		0	0	0.000602214	0	0
SSPO	23145	broad.mit.edu	37	7	149489539	149489539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:149489539C>T	uc010lpk.3	+	36	5683	c.5683C>T	c.(5683-5685)Cga>Tga	p.R1895*		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1898	EGF-like 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGACGGCCCCGACGCTGCCG	0.697000														12			4		0	0	0.00024832	0	0
CXCR6	10663	broad.mit.edu	37	3	45988747	45988748	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:45988747_45988748GG>AA	uc003cpc.1	+	1	855_856	c.774_775GG>AA	c.(772-777)tgggaa>tgAAaa	p.258_259WE>*K	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Nonsense_Mutation_p.258_259WE>*K|CXCR6_uc021www.1_Nonsense_Mutation_p.258_259WE>*K	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	258					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCACACACTGGGAATACTATGC	0.510000														10			12		0	0	6.4e-05	0	0
MYLK3	91807	broad.mit.edu	37	16	46771977	46771977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:46771977G>A	uc002eei.4	-	2	763	c.647C>T	c.(646-648)cCc>cTc	p.P216L	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	216					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)				TGCCTGGGCGGGGTCAGCTCC	0.667000														9			3		0	0	6.4e-05	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006946	183006946	+	Missense_Mutation	SNP	G	C	C	rs148186903	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:183006946G>C	uc003fli.1	-	13	1828	c.1738C>G	c.(1738-1740)Cgg>Ggg	p.R580G	MCF2L2_uc003flj.1_Missense_Mutation_p.R580G|MCF2L2_uc011bqr.1_Non-coding_Transcript|BC013229_uc003fln.1_Intron	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	580					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)			TCCTTTCCCCGGGAGTTCAAC	0.403000														57			4		0	0	8.12818e-05	0	0
SLC4A8	9498	broad.mit.edu	37	12	51847358	51847358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:51847358G>A	uc001rys.1	+	4	627	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC4A8_uc010sni.2_Missense_Mutation_p.G97E|SLC4A8_uc001rym.3_Missense_Mutation_p.G97E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G97E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryp.1_Missense_Mutation_p.G97E|SLC4A8_uc010snj.2_Missense_Mutation_p.G177E|SLC4A8_uc001ryq.4_Missense_Mutation_p.G150E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G150E|SLC4A8_uc010snk.2_Missense_Mutation_p.G97E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	150					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G150E(3)|p.G97E(1)		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)		GAAGATGGGGGAGAACGCTGG	0.418000														41			20		0	0	0.000586117	0	0
AGFG1	3267	broad.mit.edu	37	2	228419201	228419201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:228419201C>T	uc002vpc.2	+	12	1929	c.1679C>T	c.(1678-1680)cCt>cTt	p.P560L	AGFG1_uc002vpd.2_Missense_Mutation_p.P582L|AGFG1_uc002vpe.2_Missense_Mutation_p.P558L|AGFG1_uc002vpf.2_Missense_Mutation_p.P520L	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	560					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCAACCAATCCTTTCTTATAG	0.368000														29			21		0	0	0.00047179	0	0
VPS39	23339	broad.mit.edu	37	15	42452984	42452984	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:42452984A>C	uc001zpd.3	-	25	2780	c.2629T>G	c.(2629-2631)Tgt>Ggt	p.C877G	VPS39_uc001zpc.3_Missense_Mutation_p.C866G|VPS39_uc001zpb.3_Missense_Mutation_p.C212G	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	877					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCTTTGGAACAGAAGTAATGG	0.537000														43			19		0	0	0.000375601	0	0
OTOGL	283310	broad.mit.edu	37	12	80672878	80672878	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:80672878C>T	uc001szd.3	+	24	2839	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.R945*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATACGGGGACCGACATTATTA	0.353000														101			48		0	0	0.000781405	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196777	80196778	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:80196777_80196778GG>AA	uc002kea.3	+	4	1473_1474	c.1323_1324GG>AA	c.(1321-1326)cgggag>cgAAag	p.E442K	SLC16A3_uc021ufm.1_Missense_Mutation_p.E442K|SLC16A3_uc002keb.3_Missense_Mutation_p.E442K|SLC16A3_uc002kec.3_Missense_Mutation_p.E442K|SLC16A3_uc002ked.3_Missense_Mutation_p.E442K|SLC16A3_uc021ufn.1_Missense_Mutation_p.E442K|SLC16A3_uc021ufo.1_Missense_Mutation_p.E442K	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	442					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|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;0.0149)		Pyruvic acid(DB00119)	TGGACTTGCGGGAGGTGGAGCA	0.624000														72			23		0	0	6.4e-05	0	0
SLA	6503	broad.mit.edu	37	8	134050772	134050772	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:134050772G>A	uc011ljd.2	-	6	1026	c.948C>T	c.(946-948)gaC>gaT	p.D316D	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.D276D|SLA_uc011lje.2_Silent_p.D293D|SLA_uc011ljf.2_Silent_p.D168D|SLA_uc011ljg.2_Silent_p.D249D	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	276						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTTGGCTAGTCCTCAAAGT	0.473000														64			26		0	0	0.000878237	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60227843	60227843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:60227843C>T	uc002lip.4	+	7	1516	c.1516C>T	c.(1516-1518)Cac>Tac	p.H506Y	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_5'UTR	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	506					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGCCATAATCCACAAGAAGCA	0.338000														65			29		0	0	0.000692331	0	0
PEAK1	79834	broad.mit.edu	37	15	77471633	77471633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:77471633G>A	uc021sqy.1	-	4	3212	c.2636C>T	c.(2635-2637)cCt>cTt	p.P879L	PEAK1_uc002bcn.2_Missense_Mutation_p.P879L|PEAK1_uc021sqz.1_Missense_Mutation_p.P277L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	879					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGCATGGTAAGGAGAAGAAGT	0.527000														49			25		0	0	0.000878237	0	0
GRM6	2916	broad.mit.edu	37	5	178413416	178413416	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178413416C>T	uc003mjr.3	-	7	2018	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.T196T|GRM6_uc003mjs.1_Silent_p.T233T	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	613					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGACGATGGGCGTGTTGTTGT	0.677000														17			5		0	0	3.59834e-05	0	0
GPR139	124274	broad.mit.edu	37	16	20043535	20043535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20043535G>A	uc002dgu.1	-	1	746	c.584C>T	c.(583-585)cCc>cTc	p.P195L	GPR139_uc010vaw.1_Missense_Mutation_p.P102L	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	195						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGGAGCAGGGCACCAGGTA	0.527000														26			12		0	0	0.000978159	0	0
FPR1	2357	broad.mit.edu	37	19	52249846	52249846	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:52249846C>T	uc021uyn.1	-	2	548	c.402G>A	c.(400-402)caG>caA	p.Q134Q	FPR1_uc002pxq.3_Silent_p.Q134Q|FPR1_uc021uyo.1_Silent_p.Q134Q	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	134					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGCGGTGGTTCTGGGTCCAGA	0.537000														29			18		0	0	0.000175454	0	0
KRT84	3890	broad.mit.edu	37	12	52779191	52779191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:52779191G>A	uc001sah.1	-	0	227	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	60	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTGAGTACGATCCAAAGGT	0.582000														15			12		0	0	0.00010058	0	0
COL1A2	1278	broad.mit.edu	37	7	94024397	94024397	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:94024397C>T	uc003ung.1	+	0	525	c.54C>T	c.(52-54)tgC>tgT	p.C18C	COL1A2_uc011kib.1_Silent_p.C18C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	18					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)	TAACCTTATGCCTAGCAACAT	0.517000										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			31		0	0	0.00111076	0	0
P2RY10	27334	broad.mit.edu	37	X	78216689	78216689	+	Silent	SNP	C	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:78216689C>G	uc022bzl.1	+	0	672	c.672C>G	c.(670-672)tcC>tcG	p.S224S	P2RY10_uc004ede.3_Silent_p.S224S|P2RY10_uc004edf.3_Silent_p.S224S	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	224						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTACTATATCCTTGAGACAGC	0.488000														10			23		0	0	0.00047179	0	0
HRSP12	10247	broad.mit.edu	37	8	99120933	99120933	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:99120933C>A	uc003yii.1	-	1	206	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_005836	NP_005827	P52758	UK114_HUMAN	Homo sapiens heat-responsive protein 12 (HRSP12), mRNA.	38					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGTCCATGCCTATCTGTCCT	0.378000														67			31		2.20474e-14	2.06554e-13	0.000692331	1	0
RNF103	7844	broad.mit.edu	37	2	86831059	86831059	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:86831059G>A	uc002srn.3	-	3	2956	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.G516G|RNF103_uc021vkg.1_Silent_p.G651G|BC066991_uc002sro.3_5'Flank	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	655					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AACAATGTCGGCCCCCAGCCA	0.448000														13			21		0	0	0.000175454	0	0
RBPJL	11317	broad.mit.edu	37	20	43936799	43936799	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:43936799C>T	uc002xns.3	+	1	111	c.39C>T	c.(37-39)ccC>ccT	p.P13P	MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Intron|RBPJL_uc002xnt.3_Silent_p.P13P	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	13					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGTGCCTCCCAATCCTTTGA	0.592000														25			13		0	0	0.000219431	0	0
EDC3	80153	broad.mit.edu	37	15	74948373	74948373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74948373G>A	uc002ayn.3	-	6	1009	c.521C>T	c.(520-522)cCc>cTc	p.P174L	EDC3_uc002ayo.3_Missense_Mutation_p.P174L|EDC3_uc002aym.3_Missense_Mutation_p.P174L	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	174					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACTTTTCTTGGGAGTTGCCTG	0.428000														48			30		0	0	0.000692331	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756748	56756748	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56756748G>A	uc010rjp.2	+	0	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGATGGCAGTGGATCCTTATG	0.418000														39			24		0	0	0.000295444	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733512	56733512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:56733512G>A	uc002qmq.3	-	4	1089	c.923C>T	c.(922-924)tCc>tTc	p.S308F	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.S191F|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.S308F|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S307F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	308					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						CTCTTCTTGGGAAATGGAGGA	0.547000														58			30		0	0	0.00058488	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447331	3447331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrY:3447331G>A	uc004fqk.3	+	1	110	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TGIF2LY_uc022ciw.1_Missense_Mutation_p.E16K	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						AAGCCCGGTGGAAAAAGACAG	0.517000														14			23		0	0	0.00106085	0	0
GABRG1	2565	broad.mit.edu	37	4	46060312	46060312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:46060312G>A	uc003gxb.3	-	6	990	c.838C>T	c.(838-840)Cca>Tca	p.P280S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	280					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)		AGAATGCATGGAATGTAGGTC	0.348000														44			33		0	0	0.000692331	0	0
USF1	7391	broad.mit.edu	37	1	161011452	161011452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161011452G>A	uc001fxi.3	-	5	656	c.461C>T	c.(460-462)cCt>cTt	p.P154L	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.P95L	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	154					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTGCCAGGAGGGGTCGCCTG	0.587000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			9		0	0	0.000274275	0	0
ADCY7	113	broad.mit.edu	37	16	50326619	50326619	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:50326619G>A	uc002egd.1	+	3	838	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ADCY7_uc002egb.1_Silent_p.G190G|ADCY7_uc002egc.2_Silent_p.G190G	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	190					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCCTGTGTGGGAACCTGACAG	0.607000														25			7		0	0	0.000274275	0	0
TMEM128	85013	broad.mit.edu	37	4	4239572	4239572	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:4239572G>A	uc003ghr.1	-	3	519	c.489C>T	c.(487-489)ctC>ctT	p.L163L	TMEM128_uc003ghq.1_Silent_p.L139L|TMEM128_uc003ghs.3_3'UTR|TMEM128_uc011bvv.1_Silent_p.L163L|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	Homo sapiens transmembrane protein 128 (TMEM128), mRNA.	163						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		ATCATCCAAGGAGTGTGATAA	0.373000														25			6		0	0	3.59834e-05	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167007	76167007	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:76167007A>T	uc002jut.3	+	1	236	c.209A>T	c.(208-210)tAt>tTt	p.Y70F	SYNGR2_uc002juu.1_Missense_Mutation_p.Y70F			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	70	MARVEL.					integral to plasma membrane		p.R69H(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCTGCCGCTATGGCAGTGCC	0.577000														64			16		0	0	0.000175454	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148876520	148876520	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:148876520C>A	uc003ilf.3	+	15	1445	c.1445C>A	c.(1444-1446)cCa>cAa	p.P482Q	ARHGAP10_uc003ilg.3_Missense_Mutation_p.P131Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.P63Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	482	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTCATTGTTCCAGCCAGTAAG	0.343000														327			9		0.000442599	0.00407558	0.000442599	1	0
DPP6	1804	broad.mit.edu	37	7	154143338	154143338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:154143338G>A	uc003wlk.3	+	1	412	c.283G>A	c.(283-285)Gga>Aga	p.G95R	DPP6_uc003wli.3_Missense_Mutation_p.G31R|DPP6_uc003wlj.3_Missense_Mutation_p.G95R|DPP6_uc010lqh.1_Missense_Mutation_p.G33R|DPP6_uc003wlm.3_Missense_Mutation_p.G33R|DPP6_uc011kvq.2_Missense_Mutation_p.G33R	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	95					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAATTGGAAAGGAATAGCAAT	0.438000														33			13		0	0	0.000566183	0	0
LAMA3	3909	broad.mit.edu	37	18	21494765	21494765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:21494765C>T	uc002kuq.3	+	57	7671	c.7585C>T	c.(7585-7587)Ctt>Ttt	p.L2529F	LAMA3_uc002kur.3_Missense_Mutation_p.L2473F|LAMA3_uc002kus.4_Missense_Mutation_p.L920F|LAMA3_uc002kut.4_Missense_Mutation_p.L864F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2529	Laminin G-like 1.				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)	CAATACACTCCTTAATTTGGA	0.338000														36			19		0	0	0.000295444	0	0
ZFP2	80108	broad.mit.edu	37	5	178358890	178358890	+	Silent	SNP	C	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178358890C>A	uc003mjn.1	+	4	1085	c.576C>A	c.(574-576)ggC>ggA	p.G192G	ZFP2_uc010jky.2_Silent_p.G192G|ZFP2_uc010jkx.1_Silent_p.G192G|ZFP2_uc021yjb.1_Silent_p.G192G	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AAGAGTGTGGCAAAGCCTTCC	0.393000														25			15		0.000308642	0.00284612	0.000308642	1	0
BAG6	7917	broad.mit.edu	37	6	31610092	31610092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:31610092G>A	uc003nvg.4	-	14	2356	c.2042C>T	c.(2041-2043)cCt>cTt	p.P681L	BAG6_uc003nvf.4_Missense_Mutation_p.P675L|BAG6_uc003nvi.4_Missense_Mutation_p.P675L|BAG6_uc003nvh.4_Missense_Mutation_p.P675L|BAG6_uc011dnw.2_Missense_Mutation_p.P675L|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	681	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCCACCAGAAGGGGAGCCTGG	0.642000														26			16		0	0	0.000566183	0	0
GPR87	53836	broad.mit.edu	37	3	151012365	151012365	+	Silent	SNP	G	A	A	rs149315251	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:151012365G>A	uc003eyt.2	-	2	1030	c.669C>T	c.(667-669)atC>atT	p.I223I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	223						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAACATCCGATCAGAATCA	0.463000														60			15		0	0	0.000308642	0	0
CHST4	10164	broad.mit.edu	37	16	71571468	71571468	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:71571468G>A	uc021tkt.1	+	0	888	c.888G>A	c.(886-888)ttG>ttA	p.L296L	CHST4_uc002fan.3_Silent_p.L296L|CHST4_uc002fao.3_Silent_p.L296L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	296					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			17		0	0	0.000132079	0	0
SETD5	55209	broad.mit.edu	37	3	9486749	9486749	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:9486749G>T	uc003brt.3	+	11	1640	c.1205G>T	c.(1204-1206)tGt>tTt	p.C402F	SETD5_uc003brs.1_Missense_Mutation_p.C383F|SETD5_uc003bru.3_Missense_Mutation_p.C304F|SETD5_uc003brv.3_Missense_Mutation_p.C291F|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_Missense_Mutation_p.C71F|SETD5_uc003brx.3_Missense_Mutation_p.C71F	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	402										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAGTGGACTGTGCCTGTCAC	0.418000														26			36		7.53189e-24	7.07691e-23	0.000319135	1	0
DCLK3	85443	broad.mit.edu	37	3	36779908	36779908	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:36779908C>T	uc003cgi.2	-	1	734	c.243G>A	c.(241-243)gaG>gaA	p.E81E		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	81						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGAAAGCTCCTCGGGGATCT	0.612000														31			26		0	0	0.000227799	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	A	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13752396G>A	uc003jfd.2	-	63	10917	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3625	AAA 5 (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)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome					32			14		0	0	0.000219431	0	0
CTTN	2017	broad.mit.edu	37	11	70265886	70265886	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:70265886C>T	uc001opv.4	+	8	809	c.603C>T	c.(601-603)atC>atT	p.I201I	CTTN_uc001opu.3_Silent_p.I201I|CTTN_uc001opw.4_Silent_p.I201I|CTTN_uc010rqm.2_5'Flank|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	201						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AATACGGTATCGACAAGGACA	0.418000														48			20		0	0	0.000295444	0	0
VAT1L	57687	broad.mit.edu	37	16	77859226	77859226	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:77859226C>T	uc002ffg.1	+	2	544	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	149							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						TCTACAAGATCCCGGATGACA	0.522000														30			16		0	0	0.000958276	0	0
LILRB2	10288	broad.mit.edu	37	19	54783720	54783720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:54783720C>T	uc002qfb.3	-	3	547	c.281G>A	c.(280-282)gGg>gAg	p.G94E	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G94E|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G94E|LILRB2_uc010yet.2_5'UTR|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.	94	Ig-like C2-type 1.				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.G94G(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)		GCCATATCGCCCTGTGTGTTC	0.542000														63			23		0	0	0.000586117	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868160	51868160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:51868160C>T	uc001rys.1	+	14	2117	c.1939C>T	c.(1939-1941)Cac>Tac	p.H647Y	SLC4A8_uc010sni.2_Missense_Mutation_p.H594Y|SLC4A8_uc001rym.3_Missense_Mutation_p.H594Y|SLC4A8_uc001ryn.3_Missense_Mutation_p.H594Y|SLC4A8_uc001ryo.2_Missense_Mutation_p.H594Y|SLC4A8_uc010snj.2_Missense_Mutation_p.H674Y|SLC4A8_uc001ryq.4_Missense_Mutation_p.H647Y|SLC4A8_uc001ryr.3_Missense_Mutation_p.H647Y|SLC4A8_uc010snk.2_Missense_Mutation_p.H594Y	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	647					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.H647Y(3)|p.H594Y(1)		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)		TCCAAACAATCACACCCTCCA	0.458000														17			8		0	0	0.000442599	0	0
GLB1L2	89944	broad.mit.edu	37	11	134238634	134238634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:134238634C>T	uc001qhp.3	+	9	1174	c.986C>T	c.(985-987)gCc>gTc	p.A329V	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	329					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)		ATGAATGGAGCCATGCACTTC	0.532000														16			8		0	0	0.000274275	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627542	162627542	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:162627542C>T	uc002ubx.4	+	1	292	c.108C>T	c.(106-108)caC>caT	p.H36H	SLC4A10_uc010fpa.1_Silent_p.H48H|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.H47H|SLC4A10_uc002uby.4_Silent_p.H36H	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	36					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						TCAAAACACACTTTGAGAAAG	0.343000														18			8		0	0	0.000274275	0	0
LALBA	3906	broad.mit.edu	37	12	48962890	48962890	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:48962890C>T	uc001rrt.3	-	1	293	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	89					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						CACAGATGTTCCTTGACTGAG	0.458000														55			22		0	0	0.00106085	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416751	121416751	+	Silent	SNP	A	G	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:121416751A>G	uc010hrc.3	-	12	2745	c.2619T>C	c.(2617-2619)ctT>ctC	p.L873L	GOLGB1_uc003eei.4_Silent_p.L868L|GOLGB1_uc003eej.4_Silent_p.L834L|GOLGB1_uc021xcy.1_Silent_p.L793L|GOLGB1_uc011bjm.1_Silent_p.L754L|GOLGB1_uc010hrd.1_Silent_p.L832L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	868					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)		CCTTCTGTGAAAGAGCCTGGG	0.443000														164			37		0	0	0.000814825	0	0
ALPK2	115701	broad.mit.edu	37	18	56204927	56204927	+	Missense_Mutation	SNP	G	A	A	rs142343365		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:56204927G>A	uc002lhj.4	-	4	2706	c.2492C>T	c.(2491-2493)tCg>tTg	p.S831L	ALPK2_uc002lhk.1_Missense_Mutation_p.S162L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	831							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						TTCTTGAGGCGAATATTTATC	0.398000														32			8		0	0	0.000978159	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349876	103349876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:103349876C>T	uc022cbz.1	-	0	65	c.65G>A	c.(64-66)gGa>gAa	p.G22E	SLC25A53_uc004elu.3_Missense_Mutation_p.G22E	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	22					transport	integral to membrane|mitochondrial inner membrane											GCTTTTCTTTCCTGGAGCCTC	0.532000														7			9		0	0	0.000442599	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530589	140530589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140530589C>T	uc003lir.3	+	0	751	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	251	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAAGTCCCTGAGAACAA	0.527000														23			9		0	0	0.000274275	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4703390C>T	uc001lzk.2	-	1	796	c.552G>A	c.(550-552)atG>atA	p.M184I	OR51E2_uc021qcr.1_Missense_Mutation_p.M184I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000														56			24		0	0	0.000586117	0	0
CDH18	1016	broad.mit.edu	37	5	19473568	19473568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:19473568C>T	uc003jgd.3	-	12	2674	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E714K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	714					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAATAAATTCCTGAACATCT	0.493000														31			16		0	0	0.000422831	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030163	95030163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:95030163C>T	uc010avd.3	+	1	729	c.455C>T	c.(454-456)tCc>tTc	p.S152F	SERPINA4_uc001ydk.3_Missense_Mutation_p.S115F|SERPINA4_uc001ydl.3_Missense_Mutation_p.S115F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	115					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGTCTGAGTCCGATGTCCAT	0.632000														30			12		0	0	0.00010058	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327543	28327543	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28327543C>T	uc010jrc.3	+	2	513	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ZKSCAN3_uc003nle.4_Silent_p.P60P|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	60	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTGCAGGCCCCCGCGAGGCGC	0.652000														35			18		0	0	0.000958276	0	0
CXCR7	57007	broad.mit.edu	37	2	237489738	237489738	+	Silent	SNP	C	T	T	rs146961395	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:237489738C>T	uc021vys.1	+	0	630	c.630C>T	c.(628-630)atC>atT	p.I210I	CXCR7_uc010fyq.3_Silent_p.I210I|CXCR7_uc002vwd.3_Silent_p.I210I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	210					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)		AGTGGCTGATCGGCATGGAGC	0.572000														22			31		0	0	0.00111076	0	0
ABCC11	85320	broad.mit.edu	37	16	48244970	48244970	+	Silent	SNP	C	T	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:48244970C>T	uc002eff.1	-	9	1847	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	ABCC11_uc002efg.1_Silent_p.R499R|ABCC11_uc002efh.1_Silent_p.R499R|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	499						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)				CATGCCCGTTCCTCTCCAGCT	0.587000														25			16		0	0	0.00074312	0	0
PPARG	5468	broad.mit.edu	37	3	12421250	12421251	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:12421250_12421251GG>TT	uc003bwx.3	+	1	221_222	c.130_131GG>TT	c.(130-132)ggg>TTg	p.G44L	PPARG_uc003bwr.3_Missense_Mutation_p.G16L|PPARG_uc003bws.3_Missense_Mutation_p.G16L|PPARG_uc003bwu.3_Missense_Mutation_p.G16L|PPARG_uc003bwv.3_Missense_Mutation_p.G16L|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.G16L|PPARG_uc003bww.1_Missense_Mutation_p.G44L	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	44					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CACCAACTTTGGGATCAGCTCC	0.455000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							189			7		0	0	6.4e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75055687	75055687	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75055687delC	uc001dgg.3	-	11	2023	c.1804delG	c.(1804-1806)gacfs	p.D602fs	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Frame_Shift_Del_p.D396fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	602	Glu-rich.							p.G601E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTCCCTGTCCCCCACTGCA	0.443													---	36	---	---	13	---					
KIAA1324	57535	broad.mit.edu	37	1	109716417	109716418	+	Frame_Shift_Ins	INS	-	GA	GA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:109716417_109716418insGA	uc021orb.1	+	6	1131_1132	c.910_911insGA	c.(910-912)ggafs	p.G304fs	KIAA1324_uc009wex.2_Intron|KIAA1324_uc010ovg.2_Frame_Shift_Ins_p.G202fs|KIAA1324_uc009wey.3_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	304					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)		TTCAAATAAAGGAGAAACTTCT	0.475													---	194	---	---	69	---					
INHA	3623	broad.mit.edu	37	2	220437118	220437118	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:220437118delT	uc002vmk.2	+	0	165	c.22delT	c.(22-24)ttcfs	p.F8fs	OBSL1_uc010fwk.3_5'Flank|OBSL1_uc010fwl.2_5'Flank|OBSL1_uc002vmi.3_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	8					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTACTGCTCTTCTTGCTGCT	0.642											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	20	---	---	17	---					
SCLY	51540	broad.mit.edu	37	2	239005464	239005464	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:239005464delC	uc010fyv.3	+	10	1262	c.1131delC	c.(1129-1131)tgcfs	p.C377fs	SCLY_uc002vxm.4_Frame_Shift_Del_p.C344fs|SCLY_uc010znr.2_Frame_Shift_Del_p.C283fs|SCLY_uc010znq.2_Frame_Shift_Del_p.C171fs	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	377					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		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;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTGCGCAGTGCCGAGTGCTGA	0.667													---	4	---	---	2	---					
SLC33A1	9197	broad.mit.edu	37	3	155560378	155560378	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:155560378delA	uc003fan.4	-	1	1268	c.806delT	c.(805-807)ttafs	p.L269fs	SLC33A1_uc003fao.2_Frame_Shift_Del_p.L269fs	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	269					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTTGTTATTAAAAATACAGT	0.259													---	55	---	---	9	---					
TRIO	7204	broad.mit.edu	37	5	14487781	14487781	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:14487781delC	uc003jff.3	+	47	7050	c.7044delC	c.(7042-7044)cacfs	p.H2348fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Del_p.H1997fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2348					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)					TCCGACACCACCCCCCCGTGC	0.751													---	4	---	---	2	---					
ADAM32	203102	broad.mit.edu	37	8	39027453	39027453	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:39027453delT	uc003xmt.4	+	9	1097	c.852delT	c.(850-852)cgtfs	p.R284fs	ADAM32_uc011lch.2_Frame_Shift_Del_p.R291fs|ADAM32_uc003xmu.4_Frame_Shift_Del_p.R284fs	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	284	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATTATCCTCGTTATTTGGGAG	0.269													---	60	---	---	30	---					
KLF6	1316	broad.mit.edu	37	10	3824190	3824191	+	Frame_Shift_Ins	INS	-	TG	TG			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:3824190_3824191insTG	uc001iha.3	-	1	585_586	c.318_319insCA	c.(316-321)tcagatfs	p.S106fs	KLF6_uc010qaj.2_Frame_Shift_Ins_p.S106fs|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Frame_Shift_Ins_p.S106fs|KLF6_uc001ihb.2_Frame_Shift_Ins_p.S106fs	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	106					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGCTGACATCTGAGTTCAGGC	0.500											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	141	---	---	80	---					
AXIN1	8312	broad.mit.edu	37	16	348025	348025	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:348025delG	uc002cgp.2	-	5	1870	c.1481delC	c.(1480-1482)ccgfs	p.P494fs	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Frame_Shift_Del_p.P494fs	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	494	Interaction with CTNNB1 (By similarity).				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			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)				CCCACTGTCCGGGGAGCGATG	0.687													---	4	---	---	2	---