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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KLHDC4	54758	broad.mit.edu	37	16	87744986	87744986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:87744986G>A	ENST00000270583.5	-	9	957	c.899C>T	c.(898-900)tCc>tTc	p.S300F	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S243F|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S269F	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	300										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CATGGCCACGGAAAAGCCAGA	0.557000													28	26					0	0	0.010818	0	0
MYH11	4629	broad.mit.edu	37	16	15844056	15844056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:15844056G>A	ENST00000338282.6	-	16	2103	c.1997C>T	c.(1996-1998)aCc>aTc	p.T666I	MYH11_ENST00000576790.1_Missense_Mutation_p.T666I|MYH11_ENST00000452625.2_Missense_Mutation_p.T673I|MYH11_ENST00000396324.3_Missense_Mutation_p.T673I|MYH11_ENST00000300036.5_Missense_Mutation_p.T666I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	666	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTAGCGTGGTCATCAGCTT	0.637000			T	CBFB	AML								24	47					0	0	0.006320	0	0
HELZ2	85441	broad.mit.edu	37	20	62202103	62202103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:62202103C>T	ENST00000467148.1	-	2	466	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCACCAGCCCGTCCTGCCAG	0.706000													10	8					0	0	0.006122	0	0
SEC14L4	284904	broad.mit.edu	37	22	30890867	30890867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30890867C>T	ENST00000392772.2	-	6	620	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SEC14L4_ENST00000381982.3_Missense_Mutation_p.E169K|SEC14L4_ENST00000255858.7_Missense_Mutation_p.E169K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E154K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	169	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TGGTAGACCTCCACAGCTGGC	0.582000													30	41					0	0	0.003271	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303953	151303953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:151303953G>A	ENST00000370323.4	-	4	456	c.140C>T	c.(139-141)tCt>tTt	p.S47F	MAGEA10_ENST00000244096.3_Missense_Mutation_p.S47F|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	47										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggatggaaaagaggagCTGGT	0.542000													26	3					0	0	0.003954	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301455	92301455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:92301455G>A	ENST00000276609.3	+	3	524	c.285G>A	c.(283-285)atG>atA	p.M95I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.M95I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.M95I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	95						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTTGGAATGGGACATCATG	0.388000													43	70					0	0	0.014410	0	0
KIFC3	3801	broad.mit.edu	37	16	57803757	57803757	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:57803757G>A	ENST00000379655.4	-	8	1307	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	KIFC3_ENST00000543930.1_Silent_p.A211A|KIFC3_ENST00000421376.2_Silent_p.A211A|KIFC3_ENST00000445690.2_Silent_p.A350A|KIFC3_ENST00000465878.2_Silent_p.A211A|KIFC3_ENST00000562903.1_Silent_p.A211A|KIFC3_ENST00000540079.2_Silent_p.A248A|KIFC3_ENST00000539578.1_Silent_p.A292A|KIFC3_ENST00000541240.1_Silent_p.A372A	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	350					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACCTGGGCTCTGGCAA	0.647000													21	21					0	0	0.012319	0	0
FGD6	55785	broad.mit.edu	37	12	95488388	95488388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:95488388G>A	ENST00000343958.4	-	15	3803	c.3580C>T	c.(3580-3582)Cct>Tct	p.P1194S	FGD6_ENST00000546711.1_Missense_Mutation_p.P1194S|FGD6_ENST00000549499.1_Missense_Mutation_p.P1194S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1194					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCCTACTAGGACAGAAGGTG	0.393000													40	51					0	0	0.009718	0	0
HRH1	3269	broad.mit.edu	37	3	11300881	11300881	+	Missense_Mutation	SNP	G	G	A	rs61738990	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:11300881G>A	ENST00000397056.1	+	3	349	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	HRH1_ENST00000438284.2_Missense_Mutation_p.R53Q|HRH1_ENST00000431010.2_Missense_Mutation_p.R53Q	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	53					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TATGCCGTACGGAGTGAGCGG	0.597000													8	29					0	0	0.003080	0	0
RNF219	79596	broad.mit.edu	37	13	79191232	79191232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:79191232G>A	ENST00000282003.6	-	6	722	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	222							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTGGACTGAAGAGCAGCAACT	0.393000													28	37					0	0	0.009535	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005895	118005895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:118005895C>T	ENST00000310754.4	-	1	841	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	219	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAAGAAGTCCCAAATGATTC	0.388000													11	29					0	0	0.010729	0	0
PTGS1	5742	broad.mit.edu	37	9	125152476	125152476	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:125152476G>A	ENST00000362012.2	+	10	1301		c.e10-1		PTGS1_ENST00000540753.1_Splice_Site|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Splice_Site	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCTCTCGGCAGATCGGTGGGG	0.602000													19	22					0	0	0.006122	0	0
BAI3	577	broad.mit.edu	37	6	70049224	70049224	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:70049224G>A	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000546190.1_Splice_Site|BAI3_ENST00000238918.8_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCTCAACAGGGCGTCTCTT	0.478000													67	19					0	0	0.014410	0	0
NPC1	4864	broad.mit.edu	37	18	21141479	21141479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:21141479G>A	ENST00000269228.5	-	5	1030	c.476C>T	c.(475-477)gCc>gTc	p.A159V	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	159					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCCCGGCAGGCATTGTACAT	0.502000													66	59					0	0	0.014410	0	0
HDAC9	9734	broad.mit.edu	37	7	18975549	18975549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:18975549C>T	ENST00000406451.3	+	23	3062	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	HDAC9_ENST00000441542.2_Missense_Mutation_p.A974V|HDAC9_ENST00000432645.2_Missense_Mutation_p.A971V|HDAC9_ENST00000401921.1_Missense_Mutation_p.A930V	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	971	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.A974V(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGTAAATGCCCTTCTAGGA	0.408000													49	60					0	0	0.014410	0	0
ACTL8	81569	broad.mit.edu	37	1	18152851	18152851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:18152851G>A	ENST00000375406.1	+	3	1154	c.938G>A	c.(937-939)aGg>aAg	p.R313K		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	313						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCTGTTCAGGGAGCTGATG	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	42					0	0	0.010771	0	0
OR10A3	26496	broad.mit.edu	37	11	7960955	7960955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7960955G>A	ENST00000360759.3	-	1	186	c.113C>T	c.(112-114)aCc>aTc	p.T38I		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCATCAGGGTCACCACATA	0.473000													32	38					0	0	0.009535	0	0
ZNF132	7691	broad.mit.edu	37	19	58946315	58946315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58946315C>T	ENST00000254166.3	-	3	896	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGCTTCCCTCCACTGTGCTCC	0.512000													42	64					0	0	0.013114	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279891	32279891	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:32279891C>T	ENST00000360482.2	-	2	1173	c.1044G>A	c.(1042-1044)cgG>cgA	p.R348R	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.R348R|SPOCD1_ENST00000373648.2_Silent_p.R348R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	348					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCTGCCAGTCCGCACGACAC	0.642000													11	9					0	0	0.013537	0	0
ZNF768	79724	broad.mit.edu	37	16	30536220	30536220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:30536220G>A	ENST00000380412.5	-	2	1416	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF768_ENST00000562803.1_Missense_Mutation_p.S383L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	414					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GATAAGGGCCGACCGCTGGGA	0.652000													12	23					0	0	0.002450	0	0
PCSK9	255738	broad.mit.edu	37	1	55518359	55518359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:55518359G>A	ENST00000302118.5	+	5	984	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	PCSK9_ENST00000543384.1_Missense_Mutation_p.G32R|PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	232	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCACCTGGCAGGGGTGGTCAG	0.637000													119	176					0	0	0.014410	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433255	72433255	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:72433255G>A	ENST00000373517.3	-	1	1429	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	NAP1L2_ENST00000536638.1_Silent_p.I216I	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	358					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)					TTACAGTTCGGATTGTTCCCC	0.373000													28	7					0	0	0.007291	0	0
HMGCL	3155	broad.mit.edu	37	1	24130967	24130967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:24130967G>A	ENST00000374483.4	-	9	1395	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	HMGCL_ENST00000374490.3_Missense_Mutation_p.P267S|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P196S			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	267					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TGTGCGTAGGGACAGCCTCCA	0.562000													26	41					0	0	0.003330	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495418	20495418	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:20495418C>T	ENST00000555186.1	+	0	621					NR_038836.1																						GAAAATGAATCCACAGCTCTA	0.383000													11	77					0	0	0.013537	0	0
FMN2	56776	broad.mit.edu	37	1	240371651	240371651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:240371651C>T	ENST00000319653.9	+	5	3769	c.3539C>T	c.(3538-3540)cCt>cTt	p.P1180L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1180	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCTGGAGTGGGA	0.687000													33	14					0	0	0.013114	0	0
TSC1	7248	broad.mit.edu	37	9	135802642	135802642	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:135802642G>A	ENST00000298552.3	-	4	377	c.156C>T	c.(154-156)acC>acT	p.T52T	TSC1_ENST00000403810.1_Silent_p.T52T|TSC1_ENST00000440111.2_Silent_p.T52T|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Silent_p.T52T	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	52					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCTGAGAGCTGGTTTCCAGGT	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				23	20					0	0	0.007291	0	0
CLDN17	26285	broad.mit.edu	37	21	31538540	31538540	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:31538540G>A	ENST00000286808.3	-	1	431	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	132					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAATCAGAACGAAGATGCCCG	0.512000													42	66					0	0	0.009718	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128209	68128209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:68128209C>T	ENST00000585558.1	+	4	474	c.86C>T	c.(85-87)tCc>tTc	p.S29F	KCNJ16_ENST00000283936.1_5'UTR|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S33F|KCNJ16_ENST00000589377.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR|KCNJ16_ENST00000392670.1_5'UTR			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TCACCTGGATCCCTAAGGGCA	0.408000													20	19					0	0	0.002780	0	0
GML	2765	broad.mit.edu	37	8	143922636	143922636	+	Missense_Mutation	SNP	C	C	T	rs139347831		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:143922636C>T	ENST00000220940.1	+	3	266	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	59	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ATGACAATCTCCATTCGTAAG	0.453000													21	31					0	0	0.003954	0	0
MKI67	4288	broad.mit.edu	37	10	129897478	129897478	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:129897478A>C	ENST00000368654.3	-	15	10122	c.9747T>G	c.(9745-9747)agT>agG	p.S3249R	MKI67_ENST00000368653.3_Missense_Mutation_p.S2889R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3249					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTCCCTATGACTTCTGGTTC	0.313000													15	11					0	0	0.006122	0	0
PIM2	11040	broad.mit.edu	37	X	48771762	48771762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:48771762G>A	ENST00000376509.4	-	5	871	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	PIM2_ENST00000485431.1_5'UTR	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	228	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ATGTCATAGAGGAGGATGCCC	0.592000													30	3					0	0	0.012213	0	0
LMF1	64788	broad.mit.edu	37	16	921330	921330	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:921330G>A	ENST00000262301.11	-	7	927	c.909C>T	c.(907-909)atC>atT	p.I303I	LMF1_ENST00000399843.2_Silent_p.I303I|LMF1_ENST00000543238.1_Silent_p.I66I|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.I86I	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	303						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TCCCGCTGACGATGAGGACGG	0.662000													12	14					0	0	0.013537	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364160	47364160	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:47364160C>T	ENST00000399249.2	-	16	1647	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	MYBPC3_ENST00000256993.4_Silent_p.G530G|MYBPC3_ENST00000545968.1_Silent_p.G531G			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	530	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCTGGCCCCCGCTAGTGC	0.637000													10	15					0	0	0.006214	0	0
PDGFC	56034	broad.mit.edu	37	4	157693952	157693952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:157693952C>T	ENST00000502773.1	-	4	1079	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PDGFC_ENST00000422544.2_Missense_Mutation_p.E197K|PDGFC_ENST00000542208.1_Missense_Mutation_p.E42K|PDGFC_ENST00000541126.1_Missense_Mutation_p.E34K|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	197					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATAAGGTCTTCCAAGGTACTA	0.438000													14	30					0	0	0.002450	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455624	50455624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:50455624C>T	ENST00000447370.2	-	9	1769	c.1679G>A	c.(1678-1680)gGc>gAc	p.G560D	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G464D	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	560					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCCCCCAGGCCAAGTCCTCC	0.657000													27	38					0	0	0.007291	0	0
DNAH5	1767	broad.mit.edu	37	5	13820501	13820501	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13820501C>T	ENST00000265104.4	-	41	6899	c.6795G>A	c.(6793-6795)ggG>ggA	p.G2265G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2265	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCCCAGCCCCACTGGGCC	0.542000									Kartagener syndrome				16	30					0	0	0.003163	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665398	44665398	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:44665398T>C	ENST00000454036.1	+	5	590	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC12A5_ENST00000372315.1_Missense_Mutation_p.S149P|SLC12A5_ENST00000539566.1_Missense_Mutation_p.S149P|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S149P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	172					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACGGCCATCTCCATGAGTGC	0.602000													30	44					0	0	0.003271	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585198	86585198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:86585198G>A	ENST00000376263.3	-	16	1463	c.1240C>T	c.(1240-1242)Cgt>Tgt	p.R414C	HNRNPK_ENST00000360384.5_Missense_Mutation_p.R414C|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R414C|HNRNPK_ENST00000376264.2_Missense_Mutation_p.R414C|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R414C	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	414	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GACTCATGACGGATTTGTTTA	0.383000													28	29					0	0	0.006320	0	0
TAF1L	138474	broad.mit.edu	37	9	32631678	32631678	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:32631678G>A	ENST00000242310.4	-	1	3989	c.3900C>T	c.(3898-3900)ctC>ctT	p.L1300L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1300					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTGATAATAGAGGGGGCAGA	0.433000													74	98					0	0	0.014410	0	0
CCZ1	51622	broad.mit.edu	37	7	5949727	5949727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:5949727C>T	ENST00000325974.6	+	8	826	c.760C>T	c.(760-762)Cca>Tca	p.P254S	CCZ1_ENST00000537980.1_Missense_Mutation_p.P111S	NM_015622.5	NP_056437.4	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	254						lysosomal membrane				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CTCCCTTTTTCCAAGGCACAT	0.473000													30	49					0	0	0.004878	0	0
STRN	6801	broad.mit.edu	37	2	37076681	37076681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:37076681G>A	ENST00000263918.4	-	18	2269	c.2261C>T	c.(2260-2262)tCg>tTg	p.S754L	STRN_ENST00000379213.2_Missense_Mutation_p.S705L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	754					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCATGAATCGATTCTTCAAA	0.393000													24	27					0	0	0.004656	0	0
OR6C70	390327	broad.mit.edu	37	12	55863029	55863029	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:55863029G>A	ENST00000327335.4	-	1	893	c.894C>T	c.(892-894)gcC>gcT	p.A298A	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAGCTTTGAAGGCTTGTTTAA	0.328000													20	33					0	0	0.002780	0	0
UPF1	5976	broad.mit.edu	37	19	18971159	18971159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18971159C>T	ENST00000262803.5	+	16	2484	c.2212C>T	c.(2212-2214)Cag>Tag	p.Q738*	UPF1_ENST00000599848.1_Nonsense_Mutation_p.Q749*	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	749					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATTTGACTTCCAGTGGCCCCA	0.552000													63	86					0	0	0.014410	0	0
PALM	5064	broad.mit.edu	37	19	746458	746458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:746458C>T	ENST00000264560.7	+	8	870	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	PALM_ENST00000338448.5_Missense_Mutation_p.R270W|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	270					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CACGCCCTCCCGGCGGGAGAT	0.736000													9	7					0	0	0.004482	0	0
NDNL2	56160	broad.mit.edu	37	15	29561830	29561830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:29561830G>A	ENST00000332303.4	-	1	203	c.80C>T	c.(79-81)cCc>cTc	p.P27L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	27					regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGAAGCCCCGGGGTTTCCGCT	0.726000													6	5					0	0	0.001984	0	0
MYO16	23026	broad.mit.edu	37	13	109817354	109817354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:109817354C>T	ENST00000356711.2	+	33	5330	c.5204C>T	c.(5203-5205)tCt>tTt	p.S1735F	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Missense_Mutation_p.S1735F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1735					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP 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)			ATTCAGTTATCTAATTCACTA	0.348000													21	17					0	0	0.014323	0	0
SOS2	6655	broad.mit.edu	37	14	50605391	50605391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:50605391G>A	ENST00000216373.5	-	18	3171	c.2897C>T	c.(2896-2898)aCt>aTt	p.T966I	SOS2_ENST00000543680.1_Missense_Mutation_p.T933I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	966	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AATTTCTCCAGTAATTTCAGC	0.328000													33	31					0	0	0.004878	0	0
TMEM244	253582	broad.mit.edu	37	6	130152480	130152480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:130152480G>A	ENST00000438392.1	-	6	551	c.371C>T	c.(370-372)tCa>tTa	p.S124L	TMEM244_ENST00000368143.1_Missense_Mutation_p.S124L			Q5VVB8	CF191_HUMAN	transmembrane protein 244	124						integral to membrane											AAGCAATTTTGATATACCTAA	0.269000													22	5					0	0	0.005443	0	0
ZNF18	7566	broad.mit.edu	37	17	11881676	11881676	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:11881676G>A	ENST00000322748.3	-	9	1852	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000580306.1_Silent_p.T416T|ZNF18_ENST00000454073.3_Silent_p.T415T	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	416					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCCTATAAAAGGTCTTCCCAC	0.522000													42	66					0	0	0.013114	0	0
LTBP2	4053	broad.mit.edu	37	14	74988709	74988709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74988709C>T	ENST00000261978.4	-	17	3079	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G898E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	898	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGCCCTTTTCCCTTGCAGGG	0.617000													9	12					0	0	0.004482	0	0
DSC2	1824	broad.mit.edu	37	18	28669485	28669485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28669485G>A	ENST00000280904.6	-	5	990	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DSC2_ENST00000251081.6_Missense_Mutation_p.R183W	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	183	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R183W(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATAAATTCCGAGGTTCTTGG	0.378000													19	18					0	0	0.006122	0	0
GABRA4	2557	broad.mit.edu	37	4	46979578	46979578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:46979578C>T	ENST00000264318.3	-	4	1325	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAAAATTTCAATGGGGCCG	0.363000													30	38					0	0	0.013726	0	0
ZBED4	9889	broad.mit.edu	37	22	50280697	50280697	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50280697C>T	ENST00000216268.4	+	2	3864	c.3387C>T	c.(3385-3387)gtC>gtT	p.V1129V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1129						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAAGCATCGTCCCTTCAGAAA	0.532000													12	32					0	0	0.004007	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145171	55145171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:55145171G>A	ENST00000370862.3	+	6	1370	c.1034G>A	c.(1033-1035)tGg>tAg	p.W345*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	345					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTATGCCTGGTTTACCTTT	0.363000													31	127					0	0	0.004878	0	0
FGFR1	2260	broad.mit.edu	37	8	38273437	38273437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:38273437G>A	ENST00000447712.2	-	13	2746	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	FGFR1_ENST00000335922.5_Missense_Mutation_p.S592F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S633F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S600F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S600F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S600F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S513F|FGFR1_ENST00000397103.1_Missense_Mutation_p.S513F|FGFR1_ENST00000532791.1_Missense_Mutation_p.S600F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S511F|FGFR1_ENST00000341462.5_Missense_Mutation_p.S602F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	602	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTAGGCGCAGGACACCAGGTC	0.642000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						12	28					0	0	0.013537	0	0
OR52A5	390054	broad.mit.edu	37	11	5153501	5153501	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5153501G>A	ENST00000307388.1	-	1	371	c.372C>T	c.(370-372)cgC>cgT	p.R124R		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCACATAGCGATCCAGGG	0.468000													18	28					0	0	0.006122	0	0
PRPF31	26121	broad.mit.edu	37	19	54634798	54634798	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:54634798T>C	ENST00000321030.4	+	14	1784	c.1435T>C	c.(1435-1437)Tat>Cat	p.Y479H	PRPF31_ENST00000391755.1_Missense_Mutation_p.Y473H|PRPF31_ENST00000419967.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	479					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAACCAGAAGTATTTCTCCAG	0.562000													20	30					0	0	0.008871	0	0
DDX26B	203522	broad.mit.edu	37	X	134706944	134706944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:134706944G>A	ENST00000370752.4	+	11	1826	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	498										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCAAATTGGGCTCTTAAA	0.303000													13	4					0	0	0.001855	0	0
PTPRG	5793	broad.mit.edu	37	3	62177286	62177286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:62177286G>A	ENST00000474889.1	+	9	1554	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E393K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	393	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GAATGAGGACGAGAAGGAGAA	0.542000													19	26					0	0	0.012319	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278390	36278390	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36278390A>G	ENST00000007510.4	+	21	3067	c.2923A>G	c.(2923-2925)Agt>Ggt	p.S975G	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S814G|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S839G			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	975					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AAGGCAACAAAGTGATGGGAG	0.692000													8	11					0	0	0.003080	0	0
SV2A	9900	broad.mit.edu	37	1	149882239	149882239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:149882239C>T	ENST00000369146.3	-	5	1462	c.972G>A	c.(970-972)atG>atA	p.M324I	SV2A_ENST00000369145.1_Missense_Mutation_p.M324I	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	324					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCAGAACCCATCTGAAAAC	0.587000													10	28					0	0	0.006214	0	0
NPAP1	23742	broad.mit.edu	37	15	24924145	24924145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:24924145G>A	ENST00000329468.2	+	1	3605	c.3131G>A	c.(3130-3132)gGg>gAg	p.G1044E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGACAGAGTGGGACACCCAGC	0.572000													13	27					0	0	0.013537	0	0
OBSL1	23363	broad.mit.edu	37	2	220431775	220431775	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:220431775G>A	ENST00000404537.1	-	5	1967	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	OBSL1_ENST00000373873.4_Silent_p.L637L|OBSL1_ENST00000373876.1_Silent_p.L637L|OBSL1_ENST00000289656.3_Silent_p.L224L|OBSL1_ENST00000603926.1_Silent_p.L637L|OBSL1_ENST00000265318.4_Silent_p.L637L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	637					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGAGAGATCGAGGGAGAAGA	0.612000													8	7					0	0	0.003080	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs144570025		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000													20	40					0	0	0.014323	0	0
PTPRC	5788	broad.mit.edu	37	1	198701456	198701456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:198701456C>T	ENST00000367376.2	+	19	2167	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	PTPRC_ENST00000348564.6_Missense_Mutation_p.P507S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P505S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P618S|PTPRC_ENST00000442510.2_Missense_Mutation_p.P668S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	666	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGCAAGTTTCCTATAAAGGA	0.393000													20	81					0	0	0.002780	0	0
GP1BA	2811	broad.mit.edu	37	17	4836950	4836950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4836950G>A	ENST00000329125.5	+	2	1126	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	351										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ATCCACTAAGGAGCAGACCAC	0.488000													90	85					0	0	0.014410	0	0
KSR2	283455	broad.mit.edu	37	12	117962980	117962980	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:117962980G>A	ENST00000425217.1	-	14	1863	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	KSR2_ENST00000339824.5_Silent_p.F632F|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.F329F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	632					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTCCTCGAAGTCATCCT	0.597000													19	17					0	0	0.007413	0	0
OR9A2	135924	broad.mit.edu	37	7	142723947	142723947	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142723947C>T	ENST00000350513.2	-	1	335	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGAAAGATACTGTCTGCATC	0.483000													20	25					0	0	0.008871	0	0
TTLL8	164714	broad.mit.edu	37	22	50479665	50479665	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50479665A>C	ENST00000266182.6	-	8	871	c.872T>G	c.(871-873)aTc>aGc	p.I291S	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AACCTTCTGGATTTTGAAGAT	0.552000													71	86					0	0	0.014410	0	0
OR1B1	347169	broad.mit.edu	37	9	125391365	125391365	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:125391365G>A	ENST00000304833.3	-	1	487	c.450C>T	c.(448-450)agC>agT	p.S150S	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACACCACCCAGCTCAAGGCTA	0.547000													8	22					0	0	0.004482	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508358	102508358	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:102508358C>T	ENST00000360184.4	+	66	12275	c.12111C>T	c.(12109-12111)ccC>ccT	p.P4037P	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4037	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGTGAAGCCCAACACTCCTG	0.507000													14	21					0	0	0.003163	0	0
EPPK1	83481	broad.mit.edu	37	8	144945250	144945250	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144945250G>A	ENST00000525985.1	-	2	2243	c.2172C>T	c.(2170-2172)atC>atT	p.I724I				P58107	EPIPL_HUMAN	epiplakin 1	724						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGTGGCGATCTGGGCCT	0.662000													28	60					0	0	0.004656	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724696	50724696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50724696G>A	ENST00000449103.1	-	9	1923	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q595*			O15031	PLXB2_HUMAN	plexin B2	595					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAGGAGCTGGATGGTCACG	0.657000													26	36					0	0	0.007291	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497676	158497676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:158497676G>A	ENST00000355585.4	+	17	2386	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SYNJ2_ENST00000367121.3_Missense_Mutation_p.E771K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E771K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	771							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGACTTTCACGAAGGAGCCAT	0.463000													28	13					0	0	0.013726	0	0
ITGB2	3689	broad.mit.edu	37	21	46326910	46326910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:46326910C>T	ENST00000397850.2	-	5	700	c.248G>A	c.(247-249)aGc>aAc	p.S83N	ITGB2_ENST00000397857.1_Missense_Mutation_p.S83N|ITGB2_ENST00000302347.5_Missense_Mutation_p.S83N|ITGB2_ENST00000397854.3_Missense_Mutation_p.S83N|ITGB2_ENST00000355153.4_Missense_Mutation_p.S83N|ITGB2_ENST00000397852.1_Missense_Mutation_p.S83N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	83					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCAGCGAGGCTTGTGGGGTC	0.612000													36	53					0	0	0.004878	0	0
FCN1	2219	broad.mit.edu	37	9	137808221	137808221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:137808221C>T	ENST00000371806.3	-	2	281	c.190G>A	c.(190-192)Gga>Aga	p.G64R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	64	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCTGCCTCTCCCTTTGGCCCT	0.642000													122	110					0	0	0.014410	0	0
STAT1	6772	broad.mit.edu	37	2	191872349	191872349	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:191872349G>A	ENST00000361099.3	-	5	699	c.312C>T	c.(310-312)atC>atT	p.I104I	STAT1_ENST00000409465.1_Silent_p.I104I|STAT1_ENST00000392322.3_Silent_p.I104I|STAT1_ENST00000392323.2_Silent_p.I106I|STAT1_ENST00000540176.1_Silent_p.I104I	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	104					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGCTGTAAATGATCATAGACA	0.308000													23	52					0	0	0.005443	0	0
LYPD4	147719	broad.mit.edu	37	19	42341400	42341400	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:42341400G>A	ENST00000330743.3	-	5	1769	c.558C>T	c.(556-558)ttC>ttT	p.F186F	LYPD4_ENST00000601246.1_Silent_p.F151F|LYPD4_ENST00000343055.4_Silent_p.F151F	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	186	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCATGAGGAGGAAGGTGGTAT	0.483000													42	75					0	0	0.013114	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26196487	26196487	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:26196487T>C	ENST00000380737.3	+	3	493	c.164T>C	c.(163-165)tTt>tCt	p.F55S	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.F65S|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GTTGTCATCTTTCAACAGGAG	0.353000													59	70					0	0	0.014410	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532565	84532565	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:84532565G>A	ENST00000527857.1	+	0	2587					NR_026851.1																						GAATGCCTGGGACTGTGCATA	0.433000													21	43					0	0	0.010504	0	0
STAT5A	6776	broad.mit.edu	37	17	40456591	40456591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:40456591C>T	ENST00000345506.4	+	12	1943	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	STAT5A_ENST00000590949.1_Missense_Mutation_p.S434F|STAT5A_ENST00000588868.1_Missense_Mutation_p.S434F|STAT5A_ENST00000452307.2_Missense_Mutation_p.S434F|STAT5A_ENST00000546010.2_Missense_Mutation_p.S404F	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	434					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGTGCAGAGTCCGTGACAGAG	0.577000													17	43					0	0	0.004007	0	0
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:29556163C>T	ENST00000358273.4	+	21	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_ENST00000356175.3_Missense_Mutation_p.L844F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	21					0	0	0.010504	0	0
NLRP2	55655	broad.mit.edu	37	19	55496441	55496441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55496441C>T	ENST00000543010.1	+	7	2200	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	NLRP2_ENST00000263437.6_Missense_Mutation_p.P683L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P662L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P686L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P664L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P662L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P663L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P664L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	686					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACATGCTTCCTTTCTGGACG	0.453000													41	67					0	0	0.014410	0	0
NBAS	51594	broad.mit.edu	37	2	15307200	15307200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:15307200G>A	ENST00000281513.5	-	52	7113	c.7088C>T	c.(7087-7089)gCc>gTc	p.A2363V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2243V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2363										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCGCGGAGGGCTGTACTGAA	0.612000													30	40					0	0	0.010818	0	0
NME7	29922	broad.mit.edu	37	1	169272414	169272414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:169272414G>A	ENST00000367811.3	-	5	665	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	NME7_ENST00000472647.1_Missense_Mutation_p.H101Y|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	137					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGATCTACATGAAAATCCAAT	0.284000													11	67					0	0	0.001855	0	0
GRM8	2918	broad.mit.edu	37	7	126249504	126249504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:126249504C>T	ENST00000339582.2	-	8	2214	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	GRM8_ENST00000358373.3_Missense_Mutation_p.G469E|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Missense_Mutation_p.D493N|GRM8_ENST00000444921.2_Missense_Mutation_p.G469E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	469					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)	ATCATAACGTCCAGGAGCATC	0.388000										HNSCC(24;0.065)			27	30					0	0	0.004656	0	0
DSCAM	1826	broad.mit.edu	37	21	41648186	41648186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:41648186G>A	ENST00000400454.1	-	11	2671	c.2194C>T	c.(2194-2196)Ccc>Tcc	p.P732S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	732	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)				TGGAACTGGGGAACCCCAGCA	0.478000													23	21					0	0	0.005443	0	0
SDK1	221935	broad.mit.edu	37	7	4277376	4277376	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4277376C>T	ENST00000404826.2	+	42	6229	c.6090C>T	c.(6088-6090)gtC>gtT	p.V2030V	SDK1_ENST00000389531.3_Silent_p.V2010V|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2030					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGCCCTCGTCCTGCACGGGC	0.572000													32	51					0	0	0.003755	0	0
ENPP4	22875	broad.mit.edu	37	6	46107692	46107692	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:46107692G>A	ENST00000321037.4	+	2	602	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	124						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGACCAATCAGCTTCAGGAAA	0.418000													43	106					0	0	0.014410	0	0
RUFY2	55680	broad.mit.edu	37	10	70105617	70105617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:70105617C>T	ENST00000388768.2	-	18	2160	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	RUFY2_ENST00000602465.1_Missense_Mutation_p.E577K|RUFY2_ENST00000265865.3_Missense_Mutation_p.E167K	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	626						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAAGGTAGTTCGTTGTCAGAG	0.403000													57	87					0	0	0.014410	0	0
ENPP2	5168	broad.mit.edu	37	8	120608182	120608182	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:120608182T>A	ENST00000259486.6	-	12	1082	c.1033A>T	c.(1033-1035)Aag>Tag	p.K345*	ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCTCCTCTTAGGGGCAACT	0.458000													38	45					0	0	0.006230	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461489	79461489	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79461489C>T	ENST00000376718.3	-	4	573	c.450G>A	c.(448-450)aaG>aaA	p.K150K	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.K150K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	150					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAGAATCTCCTTTAGCACGA	0.473000													23	27					0	0	0.014323	0	0
MPP2	4355	broad.mit.edu	37	17	41957312	41957312	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:41957312C>T	ENST00000269095.4	-	11	1495	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q	MPP2_ENST00000520305.1_Silent_p.Q258Q|MPP2_ENST00000536246.1_Silent_p.Q386Q|MPP2_ENST00000377184.3_Silent_p.Q414Q|MPP2_ENST00000518766.1_Silent_p.Q442Q|MPP2_ENST00000523501.1_Silent_p.Q386Q|MPP2_ENST00000461854.1_Silent_p.Q421Q	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	421	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCTGTAACCCTGACCTTCCC	0.612000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	52					0	0	0.012213	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625546	140625546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140625546C>T	ENST00000231173.3	+	1	400	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		134					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGTTTCCTGAAAGAGA	0.428000													29	43					0	0	0.013726	0	0
SCN8A	6334	broad.mit.edu	37	12	52200262	52200262	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52200262C>T	ENST00000354534.5	+	27	5170	c.4992C>T	c.(4990-4992)atC>atT	p.I1664I	SCN8A_ENST00000545061.1_Silent_p.I1623I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1664					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCATGTTCATCTTCTCCATTT	0.473000													48	69					0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56487619	56487619	+	Silent	SNP	C	C	T	rs61734100	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:56487619C>T	ENST00000291971.3	+	8	2897	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	NLRP8_ENST00000590542.1_Silent_p.I923I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	942						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGGGGTGATCCTGCTGTGTG	0.453000													36	50					0	0	0.006230	0	0
DOCK7	85440	broad.mit.edu	37	1	63084515	63084515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:63084515G>A	ENST00000251157.5	-	14	1577	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	DOCK7_ENST00000340370.5_Missense_Mutation_p.P515L|DOCK7_ENST00000404627.2_Missense_Mutation_p.P515L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	515					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCAGGTGCGGGAGAAATGTC	0.373000													57	85					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124315175	124315175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:124315175G>A	ENST00000409039.3	+	25	4145	c.4120G>A	c.(4120-4122)Gaa>Aaa	p.E1374K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1374	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTTGCTATGGAACTGCACAA	0.403000													26	32					0	0	0.003330	0	0
NBAS	51594	broad.mit.edu	37	2	15432747	15432747	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:15432747G>A	ENST00000281513.5	-	41	4966	c.4941C>T	c.(4939-4941)atC>atT	p.I1647I	NBAS_ENST00000441750.1_Silent_p.I1527I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1647										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCCTGAAGGATCTGCGCCT	0.507000													25	32					0	0	0.003330	0	0
KCTD6	200845	broad.mit.edu	37	3	58486826	58486826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:58486826G>A	ENST00000355076.6	+	2	1164	c.181G>A	c.(181-183)Gat>Aat	p.D61N	KCTD6_ENST00000404589.3_Missense_Mutation_p.D61N|KCTD6_ENST00000490264.1_Missense_Mutation_p.D61N	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TATTGATCGAGATGGACCTCT	0.458000													23	41					0	0	0.012319	0	0
RNF157	114804	broad.mit.edu	37	17	74151745	74151745	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74151745G>A	ENST00000269391.6	-	15	1728	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	RNF157_ENST00000319945.6_Silent_p.V532V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	532	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACATGGAGGAGACGGTGTCAG	0.627000													9	21					0	0	0.004482	0	0
MROH2B	133558	broad.mit.edu	37	5	41010070	41010070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41010070C>T	ENST00000399564.4	-	31	3697	c.3247G>A	c.(3247-3249)Gat>Aat	p.D1083N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D638N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACAACTGTATCCATGTGAAAG	0.438000													27	37					0	0	0.010818	0	0
ZNF251	90987	broad.mit.edu	37	8	145948623	145948623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:145948623C>T	ENST00000292562.7	-	5	697	c.422G>A	c.(421-423)gGc>gAc	p.G141D	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTGAGTTTGCCCTCACGGCC	0.468000													18	38					0	0	0.008871	0	0
PTX4	390667	broad.mit.edu	37	16	1537384	1537384	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:1537384C>T	ENST00000447419.2	-	2	754	c.729G>A	c.(727-729)cgG>cgA	p.R243R	PTX4_ENST00000293922.1_Silent_p.R238R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	243						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CACTGAGTACCCGATGGCTGC	0.682000													15	25					0	0	0.004007	0	0
KCTD11	147040	broad.mit.edu	37	17	7256414	7256414	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7256414C>T	ENST00000333751.3	+	1	1207	c.153C>T	c.(151-153)taC>taT	p.Y51Y	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	51					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCCGTGGGTACGGAGAGACAG	0.667000													11	11					0	0	0.008291	0	0
PRTG	283659	broad.mit.edu	37	15	55974628	55974628	+	Missense_Mutation	SNP	G	G	A	rs143548115		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:55974628G>A	ENST00000389286.4	-	4	657	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	204	Ig-like 2.				multicellular organismal development	integral to membrane		p.R204C(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCAATACAACGATAATTTCCA	0.423000													28	19					0	0	0.008361	0	0
RPIA	22934	broad.mit.edu	37	2	89049514	89049514	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:89049514C>T	ENST00000283646.4	+	9	910	c.855C>T	c.(853-855)ggC>ggT	p.G285G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	285					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGGACACAGGCCTATTCATCA	0.493000													24	40					0	0	0.008361	0	0
OR2M4	26245	broad.mit.edu	37	1	248402326	248402326	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248402326G>A	ENST00000306687.1	+	1	96	c.96G>A	c.(94-96)ctG>ctA	p.L32L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTGGTCCTGGGCATCTTCT	0.483000													50	178					0	0	0.014410	0	0
CLIP3	25999	broad.mit.edu	37	19	36517887	36517887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36517887G>A	ENST00000360535.4	-	4	594	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	CLIP3_ENST00000593074.1_Missense_Mutation_p.H123Y|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	123					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCATAGTGGAGCAGTGTC	0.617000													20	23					0	0	0.012319	0	0
TCTA	6988	broad.mit.edu	37	3	49449940	49449940	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49449940G>A	ENST00000273590.3	+	1	302	c.81G>A	c.(79-81)cgG>cgA	p.R27R	RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	27						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCTTGCGGGAGTGGGAGG	0.677000													23	50					0	0	0.014323	0	0
CASP10	843	broad.mit.edu	37	2	202050821	202050821	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:202050821C>T	ENST00000286186.6	+	2	756	c.321C>T	c.(319-321)ccC>ccT	p.P107P	CASP10_ENST00000313728.7_Silent_p.P107P|CASP10_ENST00000272879.5_Silent_p.P107P|CASP10_ENST00000448480.1_Silent_p.P107P|CASP10_ENST00000346817.5_Silent_p.P107P|CASP10_ENST00000374650.3_Silent_p.P107P|CASP10_ENST00000360132.3_Silent_p.P107P|CASP10_ENST00000492363.1_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	107					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GACTGCTGCCCACCCGACAAA	0.522000													16	33					0	0	0.006122	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116185	129116185	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:129116185G>A	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA																lung(1)	1						TGCGATCCCAGGAGGTCAAGG	0.547000													44	74					0	0	0.014410	0	0
ASB2	51676	broad.mit.edu	37	14	94419799	94419799	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:94419799A>G	ENST00000555019.1	-	5	963	c.533T>C	c.(532-534)tTg>tCg	p.L178S	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.L130S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	130					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCACGTTGCCAAGTAAACGGC	0.582000													19	34					0	0	0.007413	0	0
DOCK1	1793	broad.mit.edu	37	10	128824626	128824626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:128824626C>T	ENST00000280333.6	+	16	1608	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	500	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTGGCCATTCCCATCGAGGAC	0.438000													3	3					0	0	0.009096	0	0
CAPN1	823	broad.mit.edu	37	11	64976830	64976830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:64976830C>T	ENST00000527323.1	+	16	2006	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	CAPN1_ENST00000533129.1_Missense_Mutation_p.S589L|CAPN1_ENST00000524773.1_Missense_Mutation_p.S589L|CAPN1_ENST00000279247.6_Missense_Mutation_p.S589L|CAPN1_ENST00000533820.1_Missense_Mutation_p.S589L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	589	Domain IV.|EF-hand 2.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCCTAGAGTCGTGCCGCAGC	0.547000													6	13					0	0	0.001984	0	0
ERC2	26059	broad.mit.edu	37	3	56330433	56330433	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:56330433C>A	ENST00000288221.6	-	3	943	c.688G>T	c.(688-690)Gat>Tat	p.D230Y		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	230						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGCAGCTCATCTTGAAGGGCC	0.522000													18	33					3.32936e-07	3.69025e-07	0.006122	1	0
TRBV5-1	28614	broad.mit.edu	37	7	142021250	142021250	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142021250G>A	ENST00000390381.3	+	0	539																											AGAAACAAAGGAAACTTCCCT	0.517000													14	20					0	0	0.002450	0	0
SPINK5	11005	broad.mit.edu	37	5	147480127	147480127	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:147480127C>T	ENST00000359874.3	+	13	1276	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Silent_p.S401S|SPINK5_ENST00000398454.1_Silent_p.S401S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	401	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCTGCTCCATGTGTGAGG	0.478000													32	28					0	0	0.003755	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730565	140730565	+	Silent	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140730565T>A	ENST00000523390.1	+	1	738	c.738T>A	c.(736-738)gtT>gtA	p.V246V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATACAGGGTTAGCCTCCAAG	0.557000													37	48					0	0	0.005524	0	0
POU6F2	11281	broad.mit.edu	37	7	39504141	39504141	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:39504141G>A	ENST00000518318.2	+	10	1866	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	POU6F2_ENST00000403058.1_Silent_p.L644L|POU6F2_ENST00000559001.1_Silent_p.L589L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	644					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGAGAAGCTGAACTATGACC	0.502000													6	14					0	0	0.003080	0	0
FAM46C	54855	broad.mit.edu	37	1	118165667	118165667	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:118165667G>A	ENST00000369448.3	+	2	424	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	59										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GCAGTCGGCTGGAGGAGGCAG	0.562000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			25	45					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179407083	179407083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179407083C>T	ENST00000589042.1	-	349	97624	c.97400G>A	c.(97399-97401)gGa>gAa	p.G32467E	TTN_ENST00000359218.5_Missense_Mutation_p.G23527E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G23594E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23402E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29899E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30826E|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30826							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)			ATACTCATTTCCTTCGGTGAG	0.507000													13	18					0	0	0.001855	0	0
SLC17A7	57030	broad.mit.edu	37	19	49944628	49944628	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:49944628G>A	ENST00000221485.3	-	1	180	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SLC17A7_ENST00000543531.1_Intron|SLC17A7_ENST00000600601.1_Intron	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	3					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCTCCTGGCGGAACTCCATGG	0.751000													13	6					0	0	0.003163	0	0
INF2	64423	broad.mit.edu	37	14	105175702	105175702	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105175702C>T	ENST00000392634.4	+	11	2146	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	INF2_ENST00000330634.7_Silent_p.L678L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	678	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTTAAGCTCCTTCCCGAGA	0.602000													7	24					0	0	0.003080	0	0
ZNF160	90338	broad.mit.edu	37	19	53572715	53572715	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53572715T>C	ENST00000601421.1	-	3	1840	c.964A>G	c.(964-966)Acc>Gcc	p.T322A	ZNF160_ENST00000418871.1_Missense_Mutation_p.T358A|ZNF160_ENST00000429604.1_Missense_Mutation_p.T358A|ZNF160_ENST00000599056.1_Missense_Mutation_p.T358A			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	358					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACTGATGGGTAGTTAGGTTT	0.378000													36	57					0	0	0.004878	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200855	67200855	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67200855C>T	ENST00000312629.5	+	10	888	c.843C>T	c.(841-843)atC>atT	p.I281I	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	281	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGATAAGATCATCAGGGGCA	0.627000													50	69					0	0	0.014410	0	0
DGUOK	1716	broad.mit.edu	37	2	74154162	74154162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:74154162C>T	ENST00000264093.4	+	1	210	c.125C>T	c.(124-126)tCc>tTc	p.S42F	DGUOK_ENST00000348222.1_Missense_Mutation_p.S42F|DGUOK_ENST00000356837.6_Missense_Mutation_p.S42F|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	42					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CGAAGGCTCTCCATCGAAGGC	0.667000													33	39					0	0	0.003271	0	0
TMEM119	338773	broad.mit.edu	37	12	108985566	108985566	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108985566C>T	ENST00000392806.3	-	2	762	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	198						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTCCACCATCCTGGCTCCGT	0.687000													18	21					0	0	0.007413	0	0
OR51B4	79339	broad.mit.edu	37	11	5322905	5322905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5322905G>A	ENST00000380224.1	-	1	321	c.272C>T	c.(271-273)gCc>gTc	p.A91V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGCATGGGCAATCTCCCT	0.502000													22	36					0	0	0.010504	0	0
TLL2	7093	broad.mit.edu	37	10	98136548	98136548	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:98136548C>T	ENST00000357947.3	-	18	2574	c.2349G>A	c.(2347-2349)gtG>gtA	p.V783V		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	783	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGTCCCCTCCACACTGCTGA	0.577000													26	41					0	0	0.005443	0	0
SEC16A	9919	broad.mit.edu	37	9	139371911	139371911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:139371911C>T	ENST00000313050.7	-	1	230	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2020					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCAAATGGATCCGTGACCGGC	0.567000													16	33					0	0	0.004007	0	0
DROSHA	29102	broad.mit.edu	37	5	31410872	31410872	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31410872G>A	ENST00000511367.2	-	30	3892	c.3648C>T	c.(3646-3648)acC>acT	p.T1216T	DROSHA_ENST00000344624.3_Silent_p.T1216T|DROSHA_ENST00000513349.1_Silent_p.T1179T|DROSHA_ENST00000442743.1_Silent_p.T1179T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1216	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGTCCGCCAAGGTCTTGGTGC	0.507000													49	73					0	0	0.014410	0	0
ITGA11	22801	broad.mit.edu	37	15	68649613	68649613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:68649613C>T	ENST00000423218.2	-	7	720	c.625G>A	c.(625-627)Gat>Aat	p.D209N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D209N|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	209	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGCACCACATCTTCGCCATAC	0.502000													33	40					0	0	0.004878	0	0
DRD5	1816	broad.mit.edu	37	4	9784300	9784300	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:9784300A>G	ENST00000304374.2	+	1	1043	c.647A>G	c.(646-648)aAc>aGc	p.N216S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	216					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AATGCAGAGAACTGTGACTCC	0.592000													34	63					0	0	0.006999	0	0
CD163L1	283316	broad.mit.edu	37	12	7527122	7527122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7527122C>T	ENST00000313599.3	-	13	3382	c.3325G>A	c.(3325-3327)Gag>Aag	p.E1109K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1109K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1119K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1109	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGTGGGACTCCATTCCTGTG	0.622000													30	42					0	0	0.010818	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476146	161476146	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161476146G>A	ENST00000271450.6	+	3	167	c.129G>A	c.(127-129)ctG>ctA	p.L43L	FCGR2A_ENST00000367972.4_Silent_p.L42L|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	43	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGCTGTGCTGAAACTTGAGC	0.587000													38	90					0	0	0.007835	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463664	25463664	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:25463664G>A	ENST00000424208.1	+	0	2947				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GTGCGCTGAAGCTCCAGCCCT	0.592000													15	36					0	0	0.002450	0	0
SLC4A4	8671	broad.mit.edu	37	4	72429552	72429552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:72429552C>T	ENST00000340595.3	+	21	3206	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S	SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P964S|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P1048S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1048	CA2-binding.					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)			TATTAAAATTCCAATGGACAT	0.373000													58	62					0	0	0.014410	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243456409	243456409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:243456409C>T	ENST00000366541.3	+	6	681	c.563C>T	c.(562-564)tCt>tTt	p.S188F	SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.S43F|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.S188F	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	188					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATGCACAATTCTTGGATTACA	0.373000													42	61					0	0	0.010771	0	0
IGHG3	3502	broad.mit.edu	37	14	106237653	106237653	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:106237653C>T	ENST00000390551.2	-	0	89																											GGGAAGTAGTCCTTGACCAGG	0.657000													14	16					0	0	0.004990	0	0
SOBP	55084	broad.mit.edu	37	6	107955660	107955660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:107955660C>T	ENST00000317357.5	+	6	2271	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	538	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGTGCCCATCCCCATCCCCAT	0.667000													12	4					0	0	0.006122	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037688	50037688	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:50037688G>A	ENST00000261897.1	+	24	2936	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.K829K|PRPF40B_ENST00000380281.1_Silent_p.K808K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	808					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGCTGGCAAGGAGAGCGATG	0.542000													10	34					0	0	0.006214	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730326	15730326	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15730326C>T	ENST00000441682.2	+	0	433							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGACATAGTCTTCTACAAGA	0.542000													26	14					0	0	0.003271	0	0
AMER3	205147	broad.mit.edu	37	2	131521567	131521567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:131521567C>T	ENST00000423981.1	+	2	2032	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	AMER3_ENST00000321420.4_Missense_Mutation_p.S641F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TGGCCCTGCTCCCAGAAGGAG	0.592000													15	12					0	0	0.002450	0	0
PTGFR	5737	broad.mit.edu	37	1	78958579	78958579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:78958579C>T	ENST00000370756.3	+	2	388	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	PTGFR_ENST00000370757.3_Missense_Mutation_p.L51F|PTGFR_ENST00000370758.1_Missense_Mutation_p.L51F	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	51					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCGCCATTCTCATGAAGGC	0.443000													39	66					0	0	0.006999	0	0
ASAH2	56624	broad.mit.edu	37	10	52005023	52005023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:52005023C>T	ENST00000395526.3	-	2	318	c.319G>A	c.(319-321)Gga>Aga	p.G107R	ASAH2_ENST00000447815.1_Missense_Mutation_p.G107R|ASAH2_ENST00000329428.6_Missense_Mutation_p.G88R	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	107					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TCAGCTCGTCCAACACCAATA	0.448000													81	122					0	0	0.014410	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435702	145435702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:145435702C>T	ENST00000511217.1	+	7	1533	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P494L|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	494							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGTCAACCCCGTGAGAAGC	0.567000													48	71					0	0	0.014410	0	0
CIT	11113	broad.mit.edu	37	12	120128034	120128034	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120128034G>A	ENST00000392521.2	-	47	6163	c.6108C>T	c.(6106-6108)ccC>ccT	p.P2036P	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.P1994P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1994					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAGCCTCCCGGGGGACCGCT	0.701000													12	14					0	0	0.010729	0	0
FHOD1	29109	broad.mit.edu	37	16	67264052	67264052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67264052C>T	ENST00000258201.4	-	20	3378	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	FHOD1_ENST00000567687.1_Missense_Mutation_p.R623Q	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1044					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCATCTCCCCGGCCTGGCCC	0.597000													29	63					0	0	0.009535	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564804	46564804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:46564804G>A	ENST00000458649.2	-	7	1181	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q255*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q255*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q255*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q255*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q255*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q255*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	255					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTCCCACCTGGATGCCAGAA	0.627000													9	10					0	0	0.008291	0	0
SETD7	80854	broad.mit.edu	37	4	140444586	140444586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:140444586G>A	ENST00000274031.3	-	5	1202	c.566C>T	c.(565-567)tCa>tTa	p.S189L	SETD7_ENST00000506866.2_Missense_Mutation_p.S189L	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	189					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTACACTGAATCTGAAAA	0.373000													48	74					0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917094	47917094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:47917094C>T	ENST00000289672.2	-	22	3706	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1219	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACCGGTTTTCCAGACATGCA	0.577000													31	50					0	0	0.003755	0	0
CTIF	9811	broad.mit.edu	37	18	46190123	46190123	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:46190123A>T	ENST00000256413.3	+	4	548	c.252_splice	c.e4-1	p.N85_splice	CTIF_ENST00000382998.4_Splice_Site_p.N85_splice	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	85	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TCTCTTCCAGAATGGCAGCAA	0.602000											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	47					0	0	0.003755	0	0
PCDH15	65217	broad.mit.edu	37	10	55587225	55587225	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55587225A>G	ENST00000373965.2	-	33	4710	c.4316T>C	c.(4315-4317)gTg>gCg	p.V1439A	PCDH15_ENST00000414778.1_Missense_Mutation_p.V1434A|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1429A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1361A|PCDH15_ENST00000409834.1_Missense_Mutation_p.V1043A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1407A|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1439A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V1432A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1392A|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1432A|PCDH15_ENST00000395438.1_Missense_Mutation_p.V1432A|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1432	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gggcgCTGCCACTGGTGCAGG	0.577000										HNSCC(58;0.16)			25	26					0	0	0.005443	0	0
SDK1	221935	broad.mit.edu	37	7	4153059	4153059	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4153059G>A	ENST00000404826.2	+	24	3712	c.3573G>A	c.(3571-3573)cgG>cgA	p.R1191R	SDK1_ENST00000389531.3_Silent_p.R1191R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGCGGCTTCGCTGGG	0.637000													52	78					0	0	0.014410	0	0
TUBB6	84617	broad.mit.edu	37	18	12325671	12325671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:12325671G>A	ENST00000317702.5	+	4	1117	c.883G>A	c.(883-885)Gac>Aac	p.D295N	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCAGATGTTCGACGCCAGGAA	0.682000													10	36					0	0	0.008291	0	0
SALL3	27164	broad.mit.edu	37	18	76753485	76753485	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:76753485C>T	ENST00000536229.3	+	1	1804	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	SALL3_ENST00000575389.2_Silent_p.P498P|SALL3_ENST00000537592.2_Silent_p.P498P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGCATCCCCTACGGCATGT	0.662000													11	14					0	0	0.001855	0	0
SELE	6401	broad.mit.edu	37	1	169699599	169699599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:169699599C>T	ENST00000333360.7	-	5	828	c.689G>A	c.(688-690)tGg>tAg	p.W230*	SELE_ENST00000367779.4_Nonsense_Mutation_p.W230*|SELE_ENST00000367781.4_Nonsense_Mutation_p.W230*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367776.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367782.4_Nonsense_Mutation_p.W230*|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367780.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	230	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGGAGCACTCCATTCTCCAGA	0.463000													36	122					0	0	0.006999	0	0
TCL6	27004	broad.mit.edu	37	14	96131391	96131391	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:96131391C>T	ENST00000467865.1	+	0	1799				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AGGAAGAGGCCCCTGGATGGA	0.552000			T	TRA@	T-ALL								5	9					0	0	0.001168	0	0
CCBE1	147372	broad.mit.edu	37	18	57106807	57106807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:57106807G>A	ENST00000439986.4	-	9	956	c.919C>T	c.(919-921)Cca>Tca	p.P307S	CCBE1_ENST00000398179.2_Missense_Mutation_p.P36S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	307	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCCTGGTGGACCCTGTAAT	0.418000													85	97					0	0	0.014410	0	0
GRID2	2895	broad.mit.edu	37	4	94006221	94006221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:94006221C>T	ENST00000282020.4	+	3	578	c.320C>T	c.(319-321)tCt>tTt	p.S107F	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	107					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)	TCCCTCCAGTCTTTGGCAGAC	0.537000													17	35					0	0	0.007413	0	0
WNT3A	89780	broad.mit.edu	37	1	228238405	228238405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:228238405C>T	ENST00000284523.1	+	3	440	c.362C>T	c.(361-363)gCc>gTc	p.A121V	WNT3A_ENST00000366753.2_Missense_Mutation_p.A121V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	121					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.A121D(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGGTGTGGCCTTTGCAGTG	0.632000													45	25					0	0	0.013114	0	0
ZAK	51776	broad.mit.edu	37	2	174104180	174104180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:174104180G>A	ENST00000375213.3	+	16	1393	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E439K|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					AGTGAACCTGGAACTGGTTTT	0.368000													12	21					0	0	0.010729	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764235	92764235	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:92764235C>T	ENST00000318238.4	-	5	2266	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	SAMD9L_ENST00000437805.1_Silent_p.R350R|SAMD9L_ENST00000411955.1_Silent_p.R350R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	350										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAGGATATCCCTAGAGCTAG	0.353000													66	78					0	0	0.014410	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281685	41281685	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:41281685G>A	ENST00000600729.1	+	3	578	c.156G>A	c.(154-156)caG>caA	p.Q52Q	MIA_ENST00000594436.1_Silent_p.Q52Q|MIA_ENST00000597784.1_Silent_p.Q52Q|MIA_ENST00000263369.3_Silent_p.Q52Q																							TGGCCCTTCAGGACTACATGG	0.602000													16	34					0	0	0.004007	0	0
CKLF	51192	broad.mit.edu	37	16	66599829	66599829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:66599829G>A	ENST00000264001.4	+	4	523	c.374G>A	c.(373-375)gGg>gAg	p.G125E	CKLF_ENST00000362093.4_Missense_Mutation_p.G40E|CKLF_ENST00000345436.4_Missense_Mutation_p.G93E|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.G72E|CKLF-CMTM1_ENST00000527729.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CTTGCCGACGGGGCCCTTATT	0.443000													32	64					0	0	0.004878	0	0
AKAP13	11214	broad.mit.edu	37	15	86076862	86076862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:86076862G>A	ENST00000394518.2	+	4	324	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AKAP13_ENST00000560302.1_Missense_Mutation_p.E77K|AKAP13_ENST00000361243.2_Missense_Mutation_p.E77K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	77					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTTCCAAAGAGGGCCTTCC	0.458000													34	43					0	0	0.004289	0	0
ALG2	85365	broad.mit.edu	37	9	101980728	101980728	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:101980728G>A	ENST00000476832.1	-	2	800	c.739C>T	c.(739-741)Cta>Tta	p.L247L	ALG2_ENST00000319033.6_Silent_p.L154L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	247					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				AGCTGTACTAGGGCTTCCAGT	0.483000													53	97					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13766106	13766106	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13766106C>T	ENST00000265104.4	-	59	10184	c.10080G>A	c.(10078-10080)ggG>ggA	p.G3360G	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3360	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAAAAAGTTCCCTGCAGTCA	0.428000									Kartagener syndrome				40	65					0	0	0.009718	0	0
MXRA5	25878	broad.mit.edu	37	X	3239399	3239399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:3239399G>A	ENST00000217939.6	-	5	4481	c.4327C>T	c.(4327-4329)Ctc>Ttc	p.L1443F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1443						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)				ATGCTTGAGAGAGTTGTGGAA	0.448000													20	5					0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113314061	113314061	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:113314061A>C	ENST00000297405.5	-	53	8645	c.8401T>G	c.(8401-8403)Tcc>Gcc	p.S2801A	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2731A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2632A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2761A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2801	Sushi 17.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCTGAGGAAAGGCATTCC	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	33					0	0	0.014323	0	0
UTP20	27340	broad.mit.edu	37	12	101763530	101763530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:101763530G>A	ENST00000261637.4	+	49	6590	c.6416G>A	c.(6415-6417)tGg>tAg	p.W2139*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2139					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCCTCATCTGGGTCTTGAGG	0.493000													64	86					0	0	0.014410	0	0
ELF3	1999	broad.mit.edu	37	1	201981877	201981877	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:201981877C>T	ENST00000359651.3	+	4	3780	c.588C>T	c.(586-588)gtC>gtT	p.V196V	ELF3_ENST00000367283.3_Silent_p.V196V|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Silent_p.V196V			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	196					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTCTGACGTCTCCACCGCAG	0.662000													63	19					0	0	0.014410	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433254	72433254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:72433254G>A	ENST00000373517.3	-	1	1430	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.R217*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	359					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)					GTTACAGTTCGGATTGTTCCC	0.373000													27	7					0	0	0.006320	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580539	178580539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178580539C>T	ENST00000251582.7	-	9	1569	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E490K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	490	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGCATTGCTCGTTCATGGAG	0.667000													8	25					0	0	0.003080	0	0
CCM2	83605	broad.mit.edu	37	7	45113982	45113982	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:45113982G>A	ENST00000475551.1	+	9	1771	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	CCM2_ENST00000544363.1_Silent_p.G252G|CCM2_ENST00000474617.1_Silent_p.G246G|CCM2_ENST00000541586.1_Silent_p.G285G|CCM2_ENST00000381112.3_Silent_p.G364G|CCM2_ENST00000258781.6_Silent_p.G343G|CCM2_ENST00000461377.1_3'UTR			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	343					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTCTACGGGGACAGCCGCA	0.587000													7	14					0	0	0.003080	0	0
NTN4	59277	broad.mit.edu	37	12	96104261	96104261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96104261G>A	ENST00000343702.4	-	5	1586	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	NTN4_ENST00000538383.1_Missense_Mutation_p.R343C|NTN4_ENST00000344911.4_Missense_Mutation_p.R343C|NTN4_ENST00000553059.1_Missense_Mutation_p.R380C	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	380	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGCAGGTCACGATAGAAGCCT	0.488000													26	23					0	0	0.007291	0	0
KIAA1551	55196	broad.mit.edu	37	12	32145458	32145458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:32145458C>T	ENST00000312561.4	+	6	5647	c.5233C>T	c.(5233-5235)Cct>Tct	p.P1745S	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		TGGTAGCAGTCCTGTAAAATA	0.353000													48	122					0	0	0.014410	0	0
PML	5371	broad.mit.edu	37	15	74328256	74328256	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:74328256C>T	ENST00000268059.6	+	8	2550	c.2454C>T	c.(2452-2454)atC>atT	p.I818I	PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Silent_p.I770I|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGCCCCCCATCAGCCCAGTCC	0.617000			T	"""RARA, PAX5"""	"""APL, ALL"""								89	162					0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41195973	41195973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41195973C>T	ENST00000263413.3	-	5	772	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	C6_ENST00000337836.5_Missense_Mutation_p.E170K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	170	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGTCCCTTTCATCTGAATTG	0.413000													30	44					0	0	0.009535	0	0
GANC	2595	broad.mit.edu	37	15	42619583	42619583	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42619583C>T	ENST00000318010.8	+	13	1683	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	481					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACCTGGATTTCACCAATCCCA	0.423000													72	91					0	0	0.014410	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582844	120582844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120582844C>T	ENST00000300648.6	-	40	5050	c.5038G>A	c.(5038-5040)Gcc>Acc	p.A1680T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1680					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)					GCCCCAAGGGCCTTTGCAGAT	0.577000													17	35					0	0	0.007413	0	0
EBI3	10148	broad.mit.edu	37	19	4237053	4237053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:4237053C>T	ENST00000221847.5	+	5	711	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	220	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGAGTCTCCCCGCCACTGC	0.642000													16	23					0	0	0.006122	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590615	234590615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234590615C>T	ENST00000373426.3	+	1	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCCTCCTTCCCCTATATGTG	0.542000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	49	76					0	0	0.014410	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202744	71202744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:71202744G>A	ENST00000554752.2	-	9	1846	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S616F|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000554146.1_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	616					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCTCTGAGGGGATCTTCAATG	0.493000													10	10					0	0	0.008291	0	0
BRINP1	1620	broad.mit.edu	37	9	121930329	121930329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:121930329C>T	ENST00000265922.3	-	8	1780	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		440					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTGGCCAGGCTGCACATGGC	0.652000													4	11					0	0	0.009096	0	0
LRBA	987	broad.mit.edu	37	4	151203626	151203626	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:151203626C>T	ENST00000535741.1	-	55	8765	c.8292G>A	c.(8290-8292)acG>acA	p.T2764T	LRBA_ENST00000510413.1_Silent_p.T2763T|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Silent_p.T2775T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2775						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTTTCCATCGTGGCCTGGA	0.468000													40	66					0	0	0.009718	0	0
KLHL38	340359	broad.mit.edu	37	8	124658255	124658255	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:124658255C>T	ENST00000325995.7	-	3	1493	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	490										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AAGCAAGAATCCTCCTTGTGT	0.507000													20	32					0	0	0.007413	0	0
OR52E6	390078	broad.mit.edu	37	11	5862771	5862771	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5862771G>A	ENST00000329322.5	-	1	356	c.357C>T	c.(355-357)gcC>gcT	p.A119A	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.A123A	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCCATGGCCACCAATA	0.448000													74	100					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179458760	179458760	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179458760A>C	ENST00000589042.1	-	297	58584	c.58360T>G	c.(58360-58362)Tcc>Gcc	p.S19454A	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10514A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10581A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10389A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16886A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S17813A|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17813	Fibronectin type-III 41.						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)			TATTTGCCGGAATCTGAACGT	0.408000													44	94					0	0	0.009718	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642536	37642536	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:37642536G>A	ENST00000356958.4	-	5	2523	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	ZNF585A_ENST00000355533.2_Silent_p.F392F|ZNF585A_ENST00000292841.5_Silent_p.F700F|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.F700F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCTGAACGAAGCCTTTCC	0.488000													34	56					0	0	0.010771	0	0
GK	2710	broad.mit.edu	37	X	30736685	30736685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:30736685C>T	ENST00000378943.3	+	13	1167	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.R330C|GK_ENST00000378946.3_Missense_Mutation_p.R336C|GK_ENST00000427190.1_Missense_Mutation_p.R131C	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TGCTGTTATTCGCTGGCTAAG	0.333000													14	2					0	0	0.004007	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337755	28337755	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:28337755A>C	ENST00000284987.5	-	1	1077	c.956T>G	c.(955-957)gTg>gGg	p.V319G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	319	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCTAGCACCACCACCTTCAC	0.577000													36	51					0	0	0.006230	0	0
CYP26A1	1592	broad.mit.edu	37	10	94837052	94837052	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:94837052G>A	ENST00000371531.1	+	7	1656	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	CYP26A1_ENST00000394139.1_Silent_p.G426G|CYP26A1_ENST00000224356.4_Silent_p.G495G	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	495					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATTTCCATGGGGAAATCTGAT	0.393000													16	20					0	0	0.006122	0	0
C12orf42	374470	broad.mit.edu	37	12	103695950	103695950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:103695950C>T	ENST00000548048.1	-	9	1314	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	C12orf42_ENST00000548883.1_Missense_Mutation_p.R340Q|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.R340Q			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	340										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATGGAAACGCCGGGTTGGGCG	0.592000													25	69					0	0	0.010818	0	0
SIN3B	23309	broad.mit.edu	37	19	16974604	16974604	+	Silent	SNP	C	C	T	rs140663662		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:16974604C>T	ENST00000379803.1	+	11	1490	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	SIN3B_ENST00000248054.5_Silent_p.F460F|SIN3B_ENST00000595541.1_Silent_p.F50F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	492	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACGAGCGCTTCGAGGTGTGTG	0.617000													13	28					0	0	0.013537	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490616	45490616	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:45490616T>A	ENST00000541297.2	+	8	1396	c.931T>A	c.(931-933)Tcg>Acg	p.S311T	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S223T|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S325T			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	325					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGCACCAAGTCGCCCTGGAA	0.637000													76	121					0	0	0.014410	0	0
FAM171B	165215	broad.mit.edu	37	2	187627382	187627382	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:187627382C>T	ENST00000304698.5	+	8	2516	c.2313C>T	c.(2311-2313)atC>atT	p.I771I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	771						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGAGTGATCATGGAGCACC	0.502000													21	40					0	0	0.010504	0	0
QRICH2	84074	broad.mit.edu	37	17	74288700	74288700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74288700G>A	ENST00000262765.5	-	4	1789	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	537	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTGCACCAGGTTGCACCAC	0.517000													41	80					0	0	0.009718	0	0
SCN8A	6334	broad.mit.edu	37	12	52200631	52200631	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52200631C>T	ENST00000354534.5	+	27	5539	c.5361C>T	c.(5359-5361)acC>acT	p.T1787T	SCN8A_ENST00000545061.1_Silent_p.T1746T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1787					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTTTGAGACCTTCTATGAGA	0.498000													50	69					0	0	0.014410	0	0
LMAN1	3998	broad.mit.edu	37	18	56998729	56998729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:56998729G>A	ENST00000251047.5	-	12	2134	c.1417C>T	c.(1417-1419)Cca>Tca	p.P473S		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	473					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AAACATGATGGAAATGGTGGT	0.343000													17	42					0	0	0.007413	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732175	26732175	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:26732175C>T	ENST00000440501.1	-	2	635	c.540G>A	c.(538-540)cgG>cgA	p.R180R	SLC46A1_ENST00000321666.5_Silent_p.R180R|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	180					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCAGGGCCATCCGGAAGGTGC	0.667000													6	7					0	0	0.001168	0	0
PSMG3	84262	broad.mit.edu	37	7	1607429	1607429	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:1607429T>G	ENST00000288607.2	-	2	927	c.274A>C	c.(274-276)Aac>Cac	p.N92H	PSMG3_ENST00000404674.3_Missense_Mutation_p.N92H|PSMG3_ENST00000252329.3_Missense_Mutation_p.N92H	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	92										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		ACTGCTCTGTTTCCAGCTTCT	0.537000													24	24					0	0	0.007291	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770912	178770912	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178770912G>A	ENST00000251582.7	-	2	491	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ADAMTS2_ENST00000274609.5_Silent_p.L130L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	130					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCGCCACGAGGCGGGCGT	0.697000													15	12					0	0	0.002450	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575018	120575018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120575018G>A	ENST00000300648.6	-	50	6781	c.6769C>T	c.(6769-6771)Ccg>Tcg	p.P2257S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2257					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)					ACCTTCTTCGGGAGGCAGAAT	0.607000													40	54					0	0	0.010771	0	0
FLNB	2317	broad.mit.edu	37	3	58109178	58109178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:58109178G>A	ENST00000357272.4	+	21	3650	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	FLNB_ENST00000490882.1_Missense_Mutation_p.G1162E|FLNB_ENST00000358537.3_Missense_Mutation_p.G1162E|FLNB_ENST00000419752.2_Missense_Mutation_p.G993E|FLNB_ENST00000295956.4_Missense_Mutation_p.G1162E|FLNB_ENST00000348383.5_Missense_Mutation_p.G1162E|FLNB_ENST00000429972.2_Missense_Mutation_p.G1162E|FLNB_ENST00000493452.1_Missense_Mutation_p.G993E			O75369	FLNB_HUMAN	filamin B, beta	1162	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGGAAGCGGGACCGGGGGCC	0.607000													36	56					0	0	0.006999	0	0
XIRP2	129446	broad.mit.edu	37	2	167760167	167760167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:167760167C>T	ENST00000409195.1	+	2	264	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	XIRP2_ENST00000420519.1_Missense_Mutation_p.P59S|XIRP2_ENST00000409728.1_Missense_Mutation_p.P59S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P59S|XIRP2_ENST00000409043.1_Missense_Mutation_p.P59S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P59S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTTTGGATCCCACAAGTCT	0.498000													14	21					0	0	0.003163	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530769	140530769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140530769C>T	ENST00000231136.1	+	1	931	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.Q175*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		311	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)			TGAGGAAATTCAGTCTTATGA	0.468000													29	46					0	0	0.009535	0	0
MSTN	2660	broad.mit.edu	37	2	190922148	190922148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:190922148G>A	ENST00000260950.4	-	3	1096	c.964C>T	c.(964-966)Cct>Tct	p.P322S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGAGTATGAGGATATTTTTGT	0.393000													22	21					0	0	0.012319	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419115	65419115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:65419115C>T	ENST00000360768.3	+	3	464	c.359C>T	c.(358-360)tCg>tTg	p.S120L	VKORC1L1_ENST00000434382.2_Silent_p.V83V	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	120						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TCCATCATGTCGGTCGTGGGG	0.542000													31	34					0	0	0.010818	0	0
OR4A16	81327	broad.mit.edu	37	11	55111458	55111458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:55111458C>T	ENST00000314721.2	+	1	832	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGACCCGTTTCCAACTTTCCC	0.378000													10	29					0	0	0.008291	0	0
PRSS53	339105	broad.mit.edu	37	16	31095588	31095588	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:31095588G>A	ENST00000280606.6	-	10	1647	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	498	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						AAGCATCTCCGAAGCTGTGCA	0.647000													14	13					0	0	0.004990	0	0
SH3D19	152503	broad.mit.edu	37	4	152069112	152069112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:152069112G>A	ENST00000409598.4	-	11	2371	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	SH3D19_ENST00000455740.1_Missense_Mutation_p.R402C|SH3D19_ENST00000427414.2_Missense_Mutation_p.R366C|SH3D19_ENST00000424281.1_Missense_Mutation_p.R366C|SH3D19_ENST00000514152.1_Missense_Mutation_p.R402C|SH3D19_ENST00000304527.4_Missense_Mutation_p.R402C|SH3D19_ENST00000409252.2_Missense_Mutation_p.R402C			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	402					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTTGGGACGAGGGGGTAGC	0.388000													24	30					0	0	0.004656	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801793	140801793	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140801793G>A	ENST00000398587.2	+	1	1032	c.999G>A	c.(997-999)acG>acA	p.T333T	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T333T|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCACGACGATGTTGATCA	0.408000													23	30					0	0	0.014323	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678186	66678186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:66678186C>T	ENST00000360242.5	+	7	1396	c.1279C>T	c.(1279-1281)Caa>Taa	p.Q427*	CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.Q427*|CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.Q427*	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	427										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACTGAACCTTCAACATGCCTA	0.323000													4	11					0	0	0.009096	0	0
CAPN13	92291	broad.mit.edu	37	2	30959436	30959436	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:30959436A>C	ENST00000295055.8	-	18	1831	c.1653_splice	c.e18-1	p.L552_splice	CAPN13_ENST00000534090.2_Splice_Site_p.L552_splice	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	552	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTCACTTTCAGCTGGGTAAG	0.552000													18	35					0	0	0.008871	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892500	72892500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:72892500G>A	ENST00000339594.4	-	7	1629	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P431S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	431	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGGTTTTAGGAGTCTTCAGT	0.483000													28	45					0	0	0.007291	0	0
GMFG	9535	broad.mit.edu	37	19	39820263	39820263	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:39820263G>A	ENST00000598034.1	-	5	233	c.204C>T	c.(202-204)ttC>ttT	p.F68F	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000602185.1_Silent_p.F19F|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000601387.1_Silent_p.F27F|GMFG_ENST00000600322.1_Silent_p.F35F|GMFG_ENST00000597595.1_Silent_p.F68F|GMFG_ENST00000253054.8_Silent_p.F35F			O60234	GMFG_HUMAN	glia maturation factor, gamma	68	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-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;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTAAACCACGAACCTACCGT	0.512000													13	21					0	0	0.001855	0	0
DPYS	1807	broad.mit.edu	37	8	105393486	105393486	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:105393486C>T	ENST00000351513.2	-	9	1632	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	500					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCTGGATTTCAGTGTGGCGA	0.493000													22	32					0	0	0.002780	0	0
NR1H4	9971	broad.mit.edu	37	12	100934464	100934464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:100934464G>A	ENST00000548884.1	+	9	1475	c.934G>A	c.(934-936)Gac>Aac	p.D312N	NR1H4_ENST00000549996.1_Missense_Mutation_p.D265N|NR1H4_ENST00000188403.7_Missense_Mutation_p.D322N|NR1H4_ENST00000551379.1_Missense_Mutation_p.D326N|NR1H4_ENST00000392986.3_Missense_Mutation_p.D316N	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	326	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCAGACTTTGGACCATGAAGA	0.383000													24	45					0	0	0.006320	0	0
UBR4	23352	broad.mit.edu	37	1	19499520	19499520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:19499520G>A	ENST00000375267.2	-	25	3362	c.3359C>T	c.(3358-3360)tCc>tTc	p.S1120F	UBR4_ENST00000375254.3_Missense_Mutation_p.S1120F|UBR4_ENST00000375217.2_Missense_Mutation_p.S1120F|UBR4_ENST00000375226.2_Missense_Mutation_p.S1120F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1120					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTGTAGATGGACTGCAGACT	0.438000													19	35					0	0	0.014323	0	0
CLNK	116449	broad.mit.edu	37	4	10542157	10542157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:10542157G>A	ENST00000226951.6	-	11	802	c.563C>T	c.(562-564)tCt>tTt	p.S188F	CLNK_ENST00000507719.1_Missense_Mutation_p.S146F|CLNK_ENST00000442825.2_Missense_Mutation_p.S146F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	188					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTGTCTCTGAGATAAAGGTGG	0.547000													24	31					0	0	0.009535	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008089	21008089	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:21008089G>T	ENST00000381545.3	+	4	431	c.212G>T	c.(211-213)gGa>gTa	p.G71V	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G71V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G71V|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.G71V|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G71V|LST3_ENST00000381541.3_Missense_Mutation_p.G71V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	71					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)					TTAATTGATGGAAGCTTTGAA	0.318000													8	13					2.17888e-05	2.41322e-05	0.006214	1	0
RXFP1	59350	broad.mit.edu	37	4	159514616	159514616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:159514616C>T	ENST00000307765.5	+	3	502	c.251C>T	c.(250-252)tCc>tTc	p.S84F	RXFP1_ENST00000460056.2_Missense_Mutation_p.S3F|RXFP1_ENST00000423548.1_Missense_Mutation_p.S84F|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000448688.2_Missense_Mutation_p.S3F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S84F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	84						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAAATGACTTCCCAATATCCT	0.323000													13	26					0	0	0.004007	0	0
IFNL3	282617	broad.mit.edu	37	19	39734691	39734691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:39734691G>A	ENST00000413851.2	-	3	403	c.365C>T	c.(364-366)cCc>cTc	p.P122L		NM_172139.2	NP_742151.2			interferon, lambda 3																		GGTGTGAAGGGGCTGGTCCAA	0.667000													36	42					0	0	0.004878	0	0
FAT3	120114	broad.mit.edu	37	11	92531183	92531183	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:92531183C>T	ENST00000298047.6	+	9	5021	c.5004C>T	c.(5002-5004)caC>caT	p.H1668H	FAT3_ENST00000409404.2_Silent_p.H1668H|FAT3_ENST00000525166.1_Silent_p.H1518H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1668	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H1668Q(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAATTCTCACCCCAAGTTCA	0.438000										TCGA Ovarian(4;0.039)			211	90					0	0	0.014410	0	0
ZNF778	197320	broad.mit.edu	37	16	89294965	89294965	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:89294965T>A	ENST00000433976.2	+	6	2517	c.2185T>A	c.(2185-2187)Ttc>Atc	p.F729I	ZNF778_ENST00000306502.6_Missense_Mutation_p.F687I|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGAGAAACCTTTCTAATGTAA	0.408000													31	27					0	0	0.003271	0	0
RIF1	55183	broad.mit.edu	37	2	152319619	152319619	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152319619C>T	ENST00000243326.4	+	29	4068	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	RIF1_ENST00000444746.2_Silent_p.F1195F|RIF1_ENST00000453091.2_Silent_p.F1195F|RIF1_ENST00000428287.2_Silent_p.F1195F|RIF1_ENST00000430328.2_Silent_p.F1195F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1195					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATTCTTTCGTTGTCAGCA	0.368000													22	39					0	0	0.014323	0	0
AIM1	202	broad.mit.edu	37	6	106973044	106973044	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:106973044C>G	ENST00000369066.3	+	3	3545	c.3058C>G	c.(3058-3060)Cga>Gga	p.R1020G		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1020							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACTCAATCCCCGACCTGGAAA	0.368000													21	6					0	0	0.010504	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456640	156456640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:156456640G>A	ENST00000425854.1	-	7	1697	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	HAVCR1_ENST00000522693.1_Nonsense_Mutation_p.Q389*|HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000544197.1_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATGAAACTGAAACAGAAAA	0.423000													21	30					0	0	0.008871	0	0
PCED1A	64773	broad.mit.edu	37	20	2816192	2816192	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:2816192C>A	ENST00000360652.2	-	8	1783	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H	PCED1A_ENST00000356872.3_Missense_Mutation_p.Q376H	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		GTCTGAGCCGCTGCCTGCAGG	0.622000													15	30					1.05317e-09	1.17001e-09	0.002450	1	0
ZAK	51776	broad.mit.edu	37	2	174104179	174104179	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:174104179G>A	ENST00000375213.3	+	16	1392	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.L438L|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					TAGTGAACCTGGAACTGGTTT	0.363000													12	20					0	0	0.010729	0	0
DPPA3	359787	broad.mit.edu	37	12	7867913	7867913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7867913G>A	ENST00000345088.2	+	2	334	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	73						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGTCCTCAGGGAAATCGAAGA	0.473000													15	23					0	0	0.002450	0	0
LRRC25	126364	broad.mit.edu	37	19	18507677	18507677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18507677C>T	ENST00000339007.3	-	1	750	c.97G>A	c.(97-99)Gac>Aac	p.D33N	LRRC25_ENST00000595840.1_Missense_Mutation_p.D33N	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	33						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCGTTCCAGTCCACATCCGCG	0.622000													10	23					0	0	0.010729	0	0
TIGD3	220359	broad.mit.edu	37	11	65123767	65123767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:65123767C>T	ENST00000309880.5	+	2	695	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	163					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGCCTCTTTCCCTAAAAGAC	0.587000													56	119					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11039151	11039151	+	RNA	SNP	C	C	T	rs71292113		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:11039151C>T	ENST00000470054.1	-	0	1052									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCTTTCCTCATGTGGGGAC	0.398000													24	257					0	0	0.002780	0	0
OR4C12	283093	broad.mit.edu	37	11	50003995	50003995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:50003995G>A	ENST00000335238.4	-	1	76	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTGTGTAAGACCTATTAAA	0.353000													21	26					0	0	0.008871	0	0
ZNF208	7757	broad.mit.edu	37	19	22154481	22154481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:22154481C>T	ENST00000397126.4	-	4	3503	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCTTTTGCCACATTCTTCA	0.378000													26	41					0	0	0.003954	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966933	7966933	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7966933C>T	ENST00000543909.1	-	16	2301	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	SLC2A14_ENST00000340749.5_Silent_p.K491K|SLC2A14_ENST00000542546.1_Silent_p.K405K|SLC2A14_ENST00000542505.1_Silent_p.K155K|SLC2A14_ENST00000431042.2_Silent_p.K491K|SLC2A14_ENST00000535295.1_Silent_p.K405K|SLC2A14_ENST00000396589.2_Silent_p.K514K|SLC2A14_ENST00000539924.1_Silent_p.K529K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	514					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGGTGGTCTCCTTAGCAGGCT	0.547000													63	119					0	0	0.014410	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555131	76555131	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:76555131T>C	ENST00000307431.8	+	17	2842	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	CNTNAP4_ENST00000377504.4_Silent_p.F771F|CNTNAP4_ENST00000476707.1_Silent_p.F823F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.F747F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	820	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATCTTTCTTTTTTAAGACAA	0.403000													88	101					0	0	0.014410	0	0
HRASLS	57110	broad.mit.edu	37	3	192973511	192973511	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:192973511C>T	ENST00000264735.2	+	2	481	c.387C>T	c.(385-387)ttC>ttT	p.F129F	HRASLS_ENST00000602513.1_Silent_p.F24F	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	24										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TCGAAGTGTTCCGTCCTGGCT	0.493000													58	64					0	0	0.014410	0	0
TMEM177	80775	broad.mit.edu	37	2	120438540	120438540	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:120438540C>T	ENST00000424086.1	+	2	584	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TMEM177_ENST00000409951.1_Silent_p.F37F|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.F37F|TMEM177_ENST00000272521.6_Silent_p.F37F	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	37						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ACCACCTCTTCCCGGATCCCG	0.612000													45	60					0	0	0.014410	0	0
UTRN	7402	broad.mit.edu	37	6	144801043	144801043	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:144801043C>T	ENST00000367545.3	+	25	3432	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1144					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGACCCAGGCCGAGGAAGAAT	0.483000													25	15					0	0	0.004656	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147315	26147315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:26147315G>A	ENST00000331351.5	+	2	1509	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	373					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGTACAGGATTTTCTAGG	0.507000													25	33					0	0	0.004656	0	0
LOC440040	440040	broad.mit.edu	37	11	49598041	49598041	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:49598041G>A	ENST00000527477.1	+	0	645																											GATCAATTCAGACCCCACACT	0.522000													3	7					0	0	0.004672	0	0
CD163L1	283316	broad.mit.edu	37	12	7531671	7531671	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7531671G>A	ENST00000313599.3	-	9	2331	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	CD163L1_ENST00000396630.1_Silent_p.G758G|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Silent_p.G768G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	758	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCAGTGCAGCCAGAATTCG	0.453000													51	46					0	0	0.014410	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992756	66992756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:66992756G>A	ENST00000276570.5	+	5	765	c.478G>A	c.(478-480)Gag>Aag	p.E160K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	160					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GGATCTGGAGGAGCAGATCAA	0.572000													5	9					0	0	0.000602	0	0
TMEM105	284186	broad.mit.edu	37	17	79288207	79288207	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:79288207C>T	ENST00000332900.1	-	2	605		c.e2+1			NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105							integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGTGCACAGACCTTGGTGTGG	0.637000													6	22					0	0	0.001984	0	0
ZNF160	90338	broad.mit.edu	37	19	53571903	53571903	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53571903C>T	ENST00000601421.1	-	3	2652	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	ZNF160_ENST00000418871.1_Silent_p.K628K|ZNF160_ENST00000429604.1_Silent_p.K628K|ZNF160_ENST00000599056.1_Silent_p.K628K			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	628					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GCCTAAAAACCTTGCCGCATT	0.413000													38	46					0	0	0.004289	0	0
ABCA12	26154	broad.mit.edu	37	2	215802328	215802328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:215802328C>T	ENST00000272895.7	-	51	7667	c.7448G>A	c.(7447-7449)gGa>gAa	p.G2483E	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G2165E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2483	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACAGTAAATCCTCGTCCAAA	0.363000													22	29					0	0	0.002780	0	0
CASS4	57091	broad.mit.edu	37	20	55027196	55027196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:55027196C>T	ENST00000371336.3	+	5	1165	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CASS4_ENST00000360314.3_Missense_Mutation_p.P322S|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGCACATTTCCTTTGGATGA	0.448000													30	83					0	0	0.010818	0	0
GABRQ	55879	broad.mit.edu	37	X	151818907	151818907	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:151818907G>A	ENST00000370306.2	+	7	785	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	255						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACATACGCCTGATACTGAAGT	0.517000													160	22					0	0	0.014410	0	0
PDE1A	5136	broad.mit.edu	37	2	183070667	183070667	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:183070667C>T	ENST00000435564.1	-	8	1150	c.950_splice	c.e8+1	p.R317_splice	PDE1A_ENST00000331935.6_Splice_Site_p.R317_splice|PDE1A_ENST00000346717.4_Splice_Site_p.R283_splice|PDE1A_ENST00000409365.1_Splice_Site_p.R301_splice|PDE1A_ENST00000358139.2_Splice_Site_p.R317_splice|PDE1A_ENST00000410103.1_Splice_Site_p.R317_splice|PDE1A_ENST00000536095.1_Splice_Site_p.R213_splice|PDE1A_ENST00000351439.5_Splice_Site_p.R301_splice|PDE1A_ENST00000456212.1_Splice_Site_p.R317_splice	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	317	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGAAACTCACCTCCAGTCATC	0.363000													7	23					0	0	0.004482	0	0
OR4D10	390197	broad.mit.edu	37	11	59245249	59245249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:59245249C>T	ENST00000530162.1	+	1	404	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478000													33	39					0	0	0.010818	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623912	25623912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:25623912G>A	ENST00000398215.2	+	4	437	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	89	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACCAGCAGCCGAAGGACGGAC	0.592000													32	44					0	0	0.005524	0	0
C6	729	broad.mit.edu	37	5	41161948	41161948	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41161948C>T	ENST00000263413.3	-	10	1569	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	C6_ENST00000337836.5_Silent_p.Q435Q|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	435	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCTGCTCCCTGTATAAATG	0.398000													25	21					0	0	0.004656	0	0
SMYD4	114826	broad.mit.edu	37	17	1686396	1686396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:1686396G>A	ENST00000305513.7	-	10	2361	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	732							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGCCCGTGGCGAACCTCCACC	0.512000													41	46					0	0	0.009718	0	0
FAM179A	165186	broad.mit.edu	37	2	29234362	29234362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29234362C>T	ENST00000379558.4	+	7	1223	c.872C>T	c.(871-873)tCt>tTt	p.S291F	FAM179A_ENST00000403861.2_Missense_Mutation_p.S291F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	291							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCCTGCATCTCTGGGTACG	0.537000													24	33					0	0	0.010818	0	0
PROS1	5627	broad.mit.edu	37	3	93598050	93598050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:93598050G>A	ENST00000394236.3	-	13	1917	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	PROS1_ENST00000407433.1_Missense_Mutation_p.P403L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	534	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACAGCAAAGGGCACTGTGTT	0.418000													22	35					0	0	0.012319	0	0
CDH6	1004	broad.mit.edu	37	5	31302310	31302310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31302310G>A	ENST00000265071.2	+	6	1169	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	CDH6_ENST00000514738.1_Missense_Mutation_p.E247K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	302	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAAAATGCTGAAATTGAGTA	0.448000													32	23					0	0	0.012213	0	0
PTPRU	10076	broad.mit.edu	37	1	29610486	29610486	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:29610486A>C	ENST00000373779.3	+	13	2306	c.2177A>C	c.(2176-2178)aAa>aCa	p.K726T	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.K726T|PTPRU_ENST00000428026.2_Missense_Mutation_p.K726T|PTPRU_ENST00000356870.3_Missense_Mutation_p.K726T|PTPRU_ENST00000345512.3_Missense_Mutation_p.K726T|PTPRU_ENST00000323874.8_Missense_Mutation_p.K726T	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	726					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATTGCCAGGAAAGGTAAGTCC	0.622000													45	85					0	0	0.014410	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790788	194790788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:194790788G>A	ENST00000310380.6	-	4	946	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	XXYLT1_ENST00000437101.1_Missense_Mutation_p.P77S|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Missense_Mutation_p.P134S|XXYLT1_ENST00000356740.5_Missense_Mutation_p.P74S|XXYLT1_ENST00000355729.4_Missense_Mutation_p.P77S	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	280						integral to membrane	transferase activity, transferring glycosyl groups										TCGGGGGGCGGGCCCCCAACC	0.677000													31	41					0	0	0.003755	0	0
ZNF652	22834	broad.mit.edu	37	17	47394220	47394220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:47394220G>A	ENST00000362063.2	-	2	1186	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	ZNF652_ENST00000430262.2_Missense_Mutation_p.H290Y	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTTGCTGGTGAAGGGACAGC	0.448000													32	88					0	0	0.004878	0	0
NPAS4	266743	broad.mit.edu	37	11	66190649	66190649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:66190649G>A	ENST00000311034.2	+	5	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	252	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATCATGGTATGGACTGCTGCA	0.542000													10	9					0	0	0.013537	0	0
SHROOM2	357	broad.mit.edu	37	X	9912692	9912692	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:9912692C>T	ENST00000380913.3	+	9	4413	c.4323C>T	c.(4321-4323)atC>atT	p.I1441I	SHROOM2_ENST00000418909.2_Silent_p.I276I	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1441	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGAGCTCATCGAGAGCATCA	0.687000													10	1					0	0	0.013537	0	0
CSMD1	64478	broad.mit.edu	37	8	3087727	3087727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:3087727G>A	ENST00000602557.1	-	28	4738	c.4183C>T	c.(4183-4185)Cca>Tca	p.P1395S	CSMD1_ENST00000542608.1_Missense_Mutation_p.P1394S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1394S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1395S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1394S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1395S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1395S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1395	Sushi 8.					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)		GGCATACCTGGATCGTTACAG	0.522000													3	11					0	0	0.004672	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													48	57					0	0	0.014410	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649459	75649459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:75649459C>T	ENST00000361470.2	+	1	1414	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	379	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCGGACACCTCCGTGCCGCCC	0.682000													11	2					0	0	0.008291	0	0
NCOA1	8648	broad.mit.edu	37	2	24920556	24920556	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:24920556C>T	ENST00000405141.1	+	12	1549	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	NCOA1_ENST00000406961.1_Silent_p.L280L|NCOA1_ENST00000288599.5_Silent_p.L280L|NCOA1_ENST00000538539.1_Silent_p.L280L|NCOA1_ENST00000395856.3_Silent_p.L280L|NCOA1_ENST00000348332.3_Silent_p.L280L|NCOA1_ENST00000407230.1_Silent_p.L129L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	280									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTAGTTCCCTGAGAGCTGC	0.368000			T	PAX3	alveolar rhadomyosarcoma								17	17					0	0	0.006122	0	0
LILRB4	11006	broad.mit.edu	37	19	55178170	55178170	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55178170G>A	ENST00000391736.1	+	12	1326	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	LILRB4_ENST00000391734.3_Silent_p.Q337Q|LILRB4_ENST00000270452.2_Silent_p.Q337Q|LILRB4_ENST00000430952.2_Silent_p.Q337Q|LILRB4_ENST00000391733.3_Silent_p.Q338Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	337						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGAACACACAGCCTGAGGACG	0.607000													32	49					0	0	0.012213	0	0
FRAS1	80144	broad.mit.edu	37	4	79328974	79328974	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:79328974G>A	ENST00000264895.6	+	31	4727	c.4287G>A	c.(4285-4287)caG>caA	p.Q1429Q	FRAS1_ENST00000325942.6_Silent_p.Q1429Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1428					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCAGCCCAGAGCGACTCCT	0.512000													15	16					0	0	0.003163	0	0
PLXND1	23129	broad.mit.edu	37	3	129284830	129284830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:129284830C>T	ENST00000393239.1	-	24	4400	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1408K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1408					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTAATTCCCTCTTCCATGTTG	0.567000													9	24					0	0	0.006214	0	0
PASK	23178	broad.mit.edu	37	2	242080011	242080011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:242080011C>T	ENST00000403638.3	-	3	445	c.354G>A	c.(352-354)tgG>tgA	p.W118*	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Nonsense_Mutation_p.W118*|PASK_ENST00000405260.1_Nonsense_Mutation_p.W118*|PASK_ENST00000234040.4_Nonsense_Mutation_p.W118*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	118					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGTGAGGACCACCCTGAGG	0.607000													11	18					0	0	0.010729	0	0
DIO1	1733	broad.mit.edu	37	1	54360021	54360021	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:54360021G>A	ENST00000361921.3	+	1	162	c.138G>A	c.(136-138)gaG>gaA	p.E46E	DIO1_ENST00000322679.6_Silent_p.E46E|DIO1_ENST00000525202.1_Silent_p.E46E|DIO1_ENST00000532493.1_Silent_p.E46E|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Silent_p.E46E|DIO1_ENST00000524406.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	46					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CCATGGGCGAGAAGACGGGTA	0.527000													47	71					0	0	0.014410	0	0
C1QL2	165257	broad.mit.edu	37	2	119915272	119915272	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:119915272T>A	ENST00000272520.3	-	1	1193	c.574A>T	c.(574-576)Acg>Tcg	p.T192S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	192	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AACTTGCCCGTGGTGGGGTCA	0.592000										HNSCC(49;0.14)			6	25					0	0	0.004482	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254177	1254177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:1254177G>A	ENST00000348261.5	+	10	2418	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G724S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G724S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	724					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGACTCAGATGGCCGTGGCGT	0.677000													14	10					0	0	0.003163	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026687	45026687	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:45026687C>T	ENST00000454753.1	-	0	1005							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTCAGAGTACCCAGGCTGGAC	0.547000													109	195					0	0	0.014410	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383299	61383299	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:61383299C>T	ENST00000544088.1	+	0	450				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAAATGGTATCAAGCCAGGTT	0.338000													9	15					0	0	0.010729	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581115	234581115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234581115G>A	ENST00000354728.4	+	1	617	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		CTATCTTGAAGAAGGTGCACA	0.473000													85	119					0	0	0.014410	0	0
GRM6	2916	broad.mit.edu	37	5	178419000	178419000	+	Missense_Mutation	SNP	C	C	T	rs140082247	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178419000C>T	ENST00000231188.5	-	2	767	c.589G>A	c.(589-591)Gac>Aac	p.D197N	GRM6_ENST00000517717.1_Missense_Mutation_p.D197N	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	197					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)		TGGTAGGAGTCGGGTGGCACC	0.622000													11	29					0	0	0.013537	0	0
EGF	1950	broad.mit.edu	37	4	110909835	110909835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:110909835G>A	ENST00000265171.5	+	18	3149	c.2704G>A	c.(2704-2706)Ggc>Agc	p.G902S	EGF_ENST00000509793.1_Missense_Mutation_p.G860S|EGF_ENST00000503392.1_Missense_Mutation_p.G902S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	902	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|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 catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase 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)	GTGCTCAGAAGGCTACCAAGG	0.547000													43	61					0	0	0.011902	0	0
MAPK4	5596	broad.mit.edu	37	18	48190835	48190835	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:48190835C>T	ENST00000400384.2	+	2	1543	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.F169F|MAPK4_ENST00000592595.1_Silent_p.F169F	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	169	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)		TTGGGGATTTCGGGTTGGCAA	0.542000													32	49					0	0	0.003271	0	0
MGA	23269	broad.mit.edu	37	15	42050032	42050032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42050032C>T	ENST00000219905.7	+	19	7367	c.7186C>T	c.(7186-7188)Cga>Tga	p.R2396*	MGA_ENST00000566586.1_Nonsense_Mutation_p.R2187*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R2187*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R2357*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R2396*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2357	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAAAGGAGTCGAAAGGTATT	0.323000													28	33					0	0	0.004289	0	0
LCE1A	353131	broad.mit.edu	37	1	152800159	152800159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152800159C>T	ENST00000335123.2	+	1	211	c.211C>T	c.(211-213)Cac>Tac	p.H71Y		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	71	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCTGAGCCACCACAGGCG	0.692000													44	41					0	0	0.010771	0	0
TRPC3	7222	broad.mit.edu	37	4	122854149	122854149	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:122854149C>T	ENST00000264811.5	-	1	463	c.45G>A	c.(43-45)gaG>gaA	p.E15E	TRPC3_ENST00000513531.1_Silent_p.E15E|TRPC3_ENST00000379645.3_Silent_p.E88E	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	3					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCGGCCCTTCTCCCGCATCA	0.597000													8	21					0	0	0.008291	0	0
TTC39A	22996	broad.mit.edu	37	1	51754542	51754542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:51754542C>T	ENST00000447632.2	-	17	1735	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	TTC39A_ENST00000413473.2_Missense_Mutation_p.E531K|TTC39A_ENST00000530004.1_Missense_Mutation_p.E171K|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.E500K|TTC39A_ENST00000451380.1_Missense_Mutation_p.E527K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E528K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	563							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ATGGCCTCTTCGTTTCTGTCT	0.502000													8	7					0	0	0.003080	0	0
HIF3A	64344	broad.mit.edu	37	19	46832655	46832655	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:46832655G>A	ENST00000339613.2	+	12	1719	c.1464G>A	c.(1462-1464)ggG>ggA	p.G488G	HIF3A_ENST00000244303.6_Silent_p.G475G|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Silent_p.G544G|HIF3A_ENST00000300862.3_Silent_p.G542G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.G493G|HIF3A_ENST00000600383.1_Silent_p.G475G			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	544	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCGCTGGGGGAGTGACCCCC	0.687000													9	10					0	0	0.008291	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118997908C>T	ENST00000328252.3	+	7	3093	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	908					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATAGGAAATTCGTAGACATGT	0.517000													47	56					0	0	0.014410	0	0
OR13C9	286362	broad.mit.edu	37	9	107380359	107380359	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:107380359C>A	ENST00000259362.1	-	1	126	c.127G>T	c.(127-129)Ggt>Tgt	p.G43C		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATGAGAGTACCATTCCCCAGA	0.443000													24	52					1.30897e-18	1.4654e-18	0.009535	1	0
HERC5	51191	broad.mit.edu	37	4	89421091	89421091	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:89421091T>A	ENST00000264350.3	+	19	2612	c.2459T>A	c.(2458-2460)cTt>cAt	p.L820H	HERC5_ENST00000508159.1_Missense_Mutation_p.L458H	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	820	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCAAACACTTCTGGATGAT	0.294000													30	39					0	0	0.012213	0	0
STON2	85439	broad.mit.edu	37	14	81745057	81745057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:81745057C>T	ENST00000555447.1	-	6	1010	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	STON2_ENST00000556280.1_5'UTR|STON2_ENST00000267540.2_Missense_Mutation_p.E200K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	200					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTACTTCTTCATCTTCTTGA	0.507000													39	54					0	0	0.006230	0	0
LIPH	200879	broad.mit.edu	37	3	185234907	185234907	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:185234907A>T	ENST00000296252.4	-	7	1071	c.930T>A	c.(928-930)gaT>gaA	p.D310E	LIPH_ENST00000424591.2_Missense_Mutation_p.D276E	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	310					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCATTGGAGGATCTTTCCCCC	0.383000													167	264					0	0	0.014410	0	0
PTPN3	5774	broad.mit.edu	37	9	112166832	112166832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:112166832C>A	ENST00000412145.1	-	14	4009	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E463*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E441*|PTPN3_ENST00000374541.2_Nonsense_Mutation_p.E617*|PTPN3_ENST00000394827.3_Nonsense_Mutation_p.E85*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	617					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						Aaaatggcttcggggaaaagc	0.517000													42	44					4.01765e-15	4.48052e-15	0.009718	1	0
FBN3	84467	broad.mit.edu	37	19	8154797	8154797	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:8154797G>A	ENST00000600128.1	-	50	6645	c.6231C>T	c.(6229-6231)ggC>ggT	p.G2077G	FBN3_ENST00000601739.1_Silent_p.G2077G|FBN3_ENST00000270509.2_Silent_p.G2077G			Q75N90	FBN3_HUMAN	fibrillin 3	2077						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTCATCCGGGCCTGGGACTG	0.652000													3	10					0	0	0.004672	0	0
CSTF3	1479	broad.mit.edu	37	11	33123756	33123756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:33123756G>A	ENST00000323959.4	-	10	932	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	265					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TCCTCTGTACGAAGAGGGTTG	0.438000													27	38					0	0	0.010818	0	0
ADAM10	102	broad.mit.edu	37	15	58938315	58938315	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:58938315T>A	ENST00000260408.3	-	6	1117	c.674A>T	c.(673-675)tAt>tTt	p.Y225F	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	225	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTCTGAATATAAAGCTGACA	0.348000													13	17					0	0	0.002450	0	0
TPTE2	93492	broad.mit.edu	37	13	19997296	19997296	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:19997296A>T	ENST00000400230.2	-	20	1519	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	TPTE2_ENST00000382978.1_Missense_Mutation_p.L452Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.L381Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.L452Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.L415Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.L381Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.L492Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.L415Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	492	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTTCTTGGTAGACAAAGCCT	0.363000													5	21					0	0	0.000602	0	0
RAI1	10743	broad.mit.edu	37	17	17699012	17699012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:17699012C>T	ENST00000353383.1	+	3	3219	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	RAI1_ENST00000261641.6_Missense_Mutation_p.P917L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	917						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGGGCTCTCCGTGCCACCTC	0.632000													14	18					0	0	0.003163	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625498	25625498	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:25625498C>T	ENST00000398215.2	+	5	573	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	134	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCTTCCACGCCCATGGCTACC	0.547000													16	14					0	0	0.010504	0	0
KRT6A	3853	broad.mit.edu	37	12	52886924	52886924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52886924C>T	ENST00000330722.6	-	1	117	c.49G>A	c.(49-51)Ggt>Agt	p.G17S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	17	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACTGAAACCCCGGCGGCTG	0.652000													19	42					0	0	0.008871	0	0
OR11L1	391189	broad.mit.edu	37	1	248004539	248004539	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248004539G>A	ENST00000355784.2	-	1	715	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGACACAATGAAAACATAGG	0.488000													21	79					0	0	0.010504	0	0
C12orf40	283461	broad.mit.edu	37	12	40114940	40114940	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:40114940C>T	ENST00000324616.5	+	13	2000	c.1846C>T	c.(1846-1848)Cta>Tta	p.L616L		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	616								p.L616I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTGTGATCTAATTTCAAA	0.413000													30	37					0	0	0.007291	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824257	94824257	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:94824257G>A	ENST00000285949.5	+	4	825	c.825G>A	c.(823-825)agG>agA	p.R275R		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	275					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				ACAGTGCAAGGGAGCTGGGCC	0.592000													24	47					0	0	0.006320	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542561	21542561	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21542561C>T	ENST00000298694.4	+	3	799	c.672C>T	c.(670-672)acC>acT	p.T224T	ARHGEF40_ENST00000298693.3_Silent_p.T224T			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	224					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGCTGGGTACCCGGAGTCCTG	0.637000													7	8					0	0	0.001984	0	0
RCOR1	23186	broad.mit.edu	37	14	103180860	103180860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:103180860C>T	ENST00000262241.6	+	8	1185	c.959C>T	c.(958-960)tCt>tTt	p.S320F	RCOR1_ENST00000570597.1_Missense_Mutation_p.S317F	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	317	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ATGTTTCTTTCTCAAGAAGAT	0.438000													19	23					0	0	0.007413	0	0
WDR93	56964	broad.mit.edu	37	15	90281389	90281389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:90281389C>T	ENST00000268130.7	+	16	1984	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L	WDR93_ENST00000560294.1_Missense_Mutation_p.P600L|WDR93_ENST00000444934.2_Missense_Mutation_p.P345L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	628					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTACCATTCCTCAAAGGGAC	0.458000													125	176					0	0	0.014410	0	0
ASB18	401036	broad.mit.edu	37	2	237150103	237150103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:237150103C>T	ENST00000330842.6	-	1	155	c.61G>A	c.(61-63)Gat>Aat	p.D21N	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	0					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GCTTGAGGATCCTTCTCTGTC	0.537000													6	10					0	0	0.001984	0	0
SBK1	388228	broad.mit.edu	37	16	28328872	28328872	+	Missense_Mutation	SNP	G	G	A	rs140773263	by1000genomes	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:28328872G>A	ENST00000341901.4	+	2	949	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	54	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CAAGCACTACGAACTAGTCCG	0.622000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	39					0	0	0.007413	0	0
ASXL1	171023	broad.mit.edu	37	20	31024038	31024038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:31024038G>A	ENST00000375687.4	+	13	3947	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E1170K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1175					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCTTTGAAGGAGCCTCTTCT	0.537000			"""F, N, Mis"""		"""MDS, CMML"""								24	31					0	0	0.004656	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736281	12736281	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:12736281G>A	ENST00000380682.1	+	16	3842	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1112					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGCAACAGGGAAAACCTTTC	0.507000													71	11					0	0	0.014410	0	0
URB2	9816	broad.mit.edu	37	1	229779425	229779425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:229779425G>A	ENST00000258243.2	+	5	3916	c.3780G>A	c.(3778-3780)tgG>tgA	p.W1260*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1260						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAACATGTGGAAAGCAGATG	0.522000													29	130					0	0	0.010818	0	0
GDF2	2658	broad.mit.edu	37	10	48414365	48414365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48414365C>T	ENST00000249598.1	-	2	662	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	168					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GACCACGCTTCCTTTCAGGTC	0.507000													12	32					0	0	0.010729	0	0
WNT3A	89780	broad.mit.edu	37	1	228238406	228238406	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:228238406C>T	ENST00000284523.1	+	3	441	c.363C>T	c.(361-363)gcC>gcT	p.A121A	WNT3A_ENST00000366753.2_Silent_p.A121A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	121					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCGGTGTGGCCTTTGCAGTGA	0.627000													43	26					0	0	0.010771	0	0
CCDC135	84229	broad.mit.edu	37	16	57734062	57734062	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:57734062C>T	ENST00000360716.3	+	5	605	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CCDC135_ENST00000336825.8_Silent_p.F128F|CCDC135_ENST00000394337.4_Silent_p.F128F|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	128						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCAGAAGTTCGTGAGCACAA	0.572000													71	118					0	0	0.014410	0	0
AMPD1	270	broad.mit.edu	37	1	115219982	115219982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:115219982G>A	ENST00000369538.3	-	9	1512	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	AMPD1_ENST00000520113.2_Missense_Mutation_p.P493S|AMPD1_ENST00000353928.6_Missense_Mutation_p.P460S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	460					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TAGATCCTGGGAACCTGGATC	0.522000													17	42					0	0	0.006122	0	0
ELK3	2004	broad.mit.edu	37	12	96640771	96640771	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96640771C>T	ENST00000228741.3	+	3	587	c.261C>T	c.(259-261)ttC>ttT	p.F87F	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	87					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TTGTCTCTTTCCCGGAGATCC	0.532000													21	31					0	0	0.004656	0	0
SHPK	23729	broad.mit.edu	37	17	3524682	3524682	+	Silent	SNP	G	G	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:3524682G>C	ENST00000225519.3	-	5	774	c.672C>G	c.(670-672)gtC>gtG	p.V224V		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	224					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GGAGCAGGTGGACAGGAAAAC	0.557000													22	31					0	0	0.002780	0	0
OR52N2	390077	broad.mit.edu	37	11	5842175	5842175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5842175G>A	ENST00000317037.2	+	1	632	c.610G>A	c.(610-612)Gtt>Att	p.V204I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTCTGATGGTTGCTCTCCT	0.463000													87	126					0	0	0.014410	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563739	24563739	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:24563739C>T	ENST00000535378.1	-	17	3054	c.2412G>A	c.(2410-2412)agG>agA	p.R804R	KIAA0319_ENST00000430948.2_Silent_p.R768R|KIAA0319_ENST00000543707.1_Silent_p.R813R|KIAA0319_ENST00000378214.3_Silent_p.R813R|KIAA0319_ENST00000537886.1_Silent_p.R813R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	813	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCACTCTTCCTAGGGTCTG	0.537000													21	1					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179444753	179444753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179444753C>T	ENST00000589042.1	-	318	67485	c.67261G>A	c.(67261-67263)Gga>Aga	p.G22421R	TTN_ENST00000359218.5_Missense_Mutation_p.G13481R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13356R|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780R|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20780	Ig-like 116.						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)			TAGGATTTTCCCTCCTCCAAA	0.438000													53	69					0	0	0.014410	0	0
INTS1	26173	broad.mit.edu	37	7	1542572	1542572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:1542572G>A	ENST00000389470.4	-	4	697	c.698C>T	c.(697-699)cCg>cTg	p.P233L	INTS1_ENST00000404767.3_Missense_Mutation_p.P105L			Q8N201	INT1_HUMAN	integrator complex subunit 1	105					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTTAATCGACGGAGAAATGGC	0.577000													62	79					0	0	0.014410	0	0
TRIM2	23321	broad.mit.edu	37	4	154197099	154197099	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:154197099C>T	ENST00000338700.5	+	3	335	c.270C>T	c.(268-270)tgC>tgT	p.C90C	TRIM2_ENST00000437508.2_Silent_p.C63C|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	63						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCCCAGTGTGCCGCCAGACCT	0.572000													29	33					0	0	0.007291	0	0
TMEM214	54867	broad.mit.edu	37	2	27263281	27263281	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27263281C>T	ENST00000238788.9	+	16	1922	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	TMEM214_ENST00000404032.3_Silent_p.F575F	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	620						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTGCTTTTCCACCAGAATG	0.587000													50	54					0	0	0.014410	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056668	120056668	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120056668G>A	ENST00000235547.6	+	4	667	c.528G>A	c.(526-528)ctG>ctA	p.L176L	HSD3B1_ENST00000369413.3_Silent_p.L174L|HSD3B1_ENST00000528909.1_Silent_p.L174L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	174					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGTGGAATCTGAAAAACGGCG	0.517000													31	40					0	0	0.008361	0	0
TET2	54790	broad.mit.edu	37	4	106156272	106156272	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:106156272C>T	ENST00000540549.1	+	3	2033	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	TET2_ENST00000305737.2_Silent_p.S391S|TET2_ENST00000394764.1_Silent_p.S391S|TET2_ENST00000513237.1_Silent_p.S412S|TET2_ENST00000380013.4_Silent_p.S391S|TET2_ENST00000545826.1_Silent_p.S391S|TET2_ENST00000413648.2_Silent_p.S391S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	391					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTAAGGATTCCTTTTCTGCCA	0.458000			"""Mis N, F"""		MDS								23	55					0	0	0.003954	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:75583414C>T	ENST00000394893.1	+	2	124	c.104C>T	c.(103-105)tCg>tTg	p.S35L	POR_ENST00000461988.1_Missense_Mutation_p.S35L|POR_ENST00000419840.1_5'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000													6	9					0	0	0.001984	0	0
APOLD1	81575	broad.mit.edu	37	12	12940208	12940208	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:12940208C>T	ENST00000356591.4	+	2	454	c.369C>T	c.(367-369)atC>atT	p.I123I	APOLD1_ENST00000326765.6_Silent_p.I154I|RP11-59H1.3_ENST00000534843.1_Intron	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	154					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TGCAGGAGATCGCGGCCACCT	0.677000													43	37					0	0	0.006999	0	0
SLC18A2	6571	broad.mit.edu	37	10	119026272	119026272	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:119026272T>C	ENST00000298472.5	+	11	1163	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	340					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTAGTATCTCTTATCTCATTG	0.348000													68	105					0	0	0.014410	0	0
SCRIB	23513	broad.mit.edu	37	8	144886272	144886272	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144886272A>T	ENST00000356994.2	-	22	3070	c.3064T>A	c.(3064-3066)Tcc>Acc	p.S1022T	SCRIB_ENST00000320476.3_Missense_Mutation_p.S1022T|SCRIB_ENST00000377533.3_Missense_Mutation_p.S941T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1022	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAATGGTCGGAGCCTCCGACA	0.627000													9	11					0	0	0.008291	0	0
PLS1	5357	broad.mit.edu	37	3	142403096	142403096	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:142403096T>G	ENST00000337777.3	+	8	960	c.745_splice	c.e8-1	p.A249_splice	PLS1_ENST00000457734.2_Splice_Site_p.A249_splice|PLS1_ENST00000497002.1_Splice_Site_p.A249_splice	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	249	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCCCTCAGCTCTGATTGCAT	0.413000													5	61					0	0	0.001984	0	0
IHH	3549	broad.mit.edu	37	2	219920510	219920510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219920510C>T	ENST00000295731.5	-	3	654	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	219					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGACAAGGCCACACGCGCC	0.667000													25	18					0	0	0.003954	0	0
MYO5C	55930	broad.mit.edu	37	15	52571191	52571191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:52571191G>A	ENST00000261839.7	-	4	489	c.328C>T	c.(328-330)Cct>Tct	p.P110S	MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	110	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCTTGTAAGGATTCATGGCC	0.448000													34	59					0	0	0.008740	0	0
DNAH5	1767	broad.mit.edu	37	5	13753569	13753569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13753569C>T	ENST00000265104.4	-	63	10749	c.10645G>A	c.(10645-10647)Gaa>Aaa	p.E3549K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3549					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)					GCTTTCATTTCCTTCCGCCAG	0.403000									Kartagener syndrome				48	74					0	0	0.014410	0	0
GPATCH1	55094	broad.mit.edu	37	19	33579090	33579090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:33579090G>A	ENST00000170564.2	+	2	438	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	42						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTCAGAGATGAAAAAGGAAG	0.363000													17	40					0	0	0.004007	0	0
CCAR2	57805	broad.mit.edu	37	8	22470618	22470618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:22470618C>T	ENST00000308511.4	+	8	922	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Missense_Mutation_p.R225W			Q8N163	K1967_HUMAN		225					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCCTCCTTACCGGGTCCACCT	0.542000													14	31					0	0	0.002450	0	0
EP400	57634	broad.mit.edu	37	12	132522282	132522282	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:132522282C>T	ENST00000333577.4	+	32	6224	c.6115C>T	c.(6115-6117)Ctg>Ttg	p.L2039L	EP400_ENST00000332482.4_Silent_p.L1966L|EP400_ENST00000389562.2_Silent_p.L2002L|EP400_ENST00000389561.2_Silent_p.L2003L|EP400_ENST00000330386.6_Silent_p.L1922L			Q96L91	EP400_HUMAN	E1A binding protein p400	2039	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AACTAAAGATCTGATCCGAGA	0.443000													14	29					0	0	0.003163	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833908	24833908	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:24833908A>C	ENST00000376451.2	+	15	4520		c.e15-1		KIAA1217_ENST00000396445.1_Splice_Site|KIAA1217_ENST00000396446.1_Splice_Site|KIAA1217_ENST00000376452.3_Splice_Site|KIAA1217_ENST00000458595.1_Splice_Site|KIAA1217_ENST00000376462.1_Splice_Site|KIAA1217_ENST00000307544.6_Splice_Site|KIAA1217_ENST00000376454.3_Splice_Site			Q5T5P2	SKT_HUMAN	KIAA1217						embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCTTCCCACAGGGCTCCAGC	0.602000													74	98					0	0	0.014410	0	0
PCK1	5105	broad.mit.edu	37	20	56136663	56136663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:56136663C>T	ENST00000319441.4	+	2	360	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	PCK1_ENST00000535860.1_5'UTR|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	66					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGAGGGCATCCTCAGGCGGCT	0.612000													68	52					0	0	0.014410	0	0
KDM4B	23030	broad.mit.edu	37	19	5111420	5111420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:5111420C>T	ENST00000381759.4	+	11	1357	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	KDM4B_ENST00000159111.4_Intron|KDM4B_ENST00000536461.1_Intron			O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	390					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAGACCCTCCCAGCCAGGTAT	0.652000													30	61					0	0	0.004878	0	0
ANXA7	310	broad.mit.edu	37	10	75143041	75143041	+	Silent	SNP	G	G	A	rs139287762	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75143041G>A	ENST00000372921.4	-	9	866	c.810C>T	c.(808-810)atC>atT	p.I270I	ANXA7_ENST00000492380.1_5'UTR|RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Silent_p.I140I	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	292							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAATTTCTCGGATTTCCTGAT	0.378000													6	23					0	0	0.001168	0	0
CCDC146	57639	broad.mit.edu	37	7	76797119	76797119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:76797119C>T	ENST00000285871.4	+	2	261	c.134C>T	c.(133-135)cCa>cTa	p.P45L	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	45										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTGAAACTCCAGCTTTCATT	0.343000													8	64					0	0	0.013537	0	0
VCAN	1462	broad.mit.edu	37	5	82837907	82837907	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:82837907T>A	ENST00000265077.3	+	8	9650	c.9085T>A	c.(9085-9087)Tca>Aca	p.S3029T	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S2042T|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3029	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATAGCAGCATCAGAACAGCA	0.458000													51	65					0	0	0.014410	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655116	46655116	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:46655116T>C	ENST00000253255.5	-	1	4103	c.4104A>G	c.(4102-4104)aaA>aaG	p.K1368K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1368					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACATGTGGTTTTTCCGGAGAT	0.388000													36	45					0	0	0.004289	0	0
SLC9A6	10479	broad.mit.edu	37	X	135084286	135084286	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:135084286C>T	ENST00000370695.4	+	6	848	c.813C>T	c.(811-813)ttC>ttT	p.F271F	SLC9A6_ENST00000370698.3_Silent_p.F239F|SLC9A6_ENST00000370701.1_Silent_p.F219F	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	239					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGCTATATTCCACGAGCTTC	0.373000													51	12					0	0	0.014410	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													79	13					0	0	0.014410	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200907	23200907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:23200907G>A	ENST00000300061.2	+	3	676	c.533G>A	c.(532-534)aGg>aAg	p.R178K		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	178			R -> W.		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCACAGGGAGGAAGCGGAAA	0.517000													70	145					0	0	0.014410	0	0
RER1	11079	broad.mit.edu	37	1	2332314	2332314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:2332314C>T	ENST00000605895.1	+	5	438	c.305C>T	c.(304-306)cCc>cTc	p.P102L	RER1_ENST00000378512.1_Missense_Mutation_p.P102L|RER1_ENST00000378513.3_Missense_Mutation_p.P69S|RER1_ENST00000378518.1_Missense_Mutation_p.P69S|RER1_ENST00000488353.1_Missense_Mutation_p.P102L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	102					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CCTTCGCTACCCACCAAACAG	0.483000													44	67					0	0	0.014410	0	0
JPH2	57158	broad.mit.edu	37	20	42806611	42806611	+	Splice_Site	SNP	C	C	T	rs36047938		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:42806611C>T	ENST00000342272.3	-	2	768	c.379_splice	c.e2-1	p.G127_splice	JPH2_ENST00000372980.3_Intron	NM_175913.3	NP_787109.2	Q9BR39	JPH2_HUMAN	junctophilin 2	127	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			tttaacacatccctaaaggaa	0.438000													38	70					0	0	0.014410	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600114	28600114	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28600114C>T	ENST00000568624.1	-	0	380																											CTAGCTCCCTCCTTAGGGCTT	0.502000													7	47					0	0	0.003080	0	0
MTIF3	219402	broad.mit.edu	37	13	28014234	28014234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:28014234G>A	ENST00000381116.1	-	5	586	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	MTIF3_ENST00000431572.2_Nonsense_Mutation_p.Q118*|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.Q118*|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.Q118*			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	118					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GTGTTCCTTTGAACCAGTCGC	0.502000													27	45					0	0	0.005443	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	222					0	0	0.000602	0	0
FRY	10129	broad.mit.edu	37	13	32745367	32745367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32745367G>A	ENST00000380250.3	+	18	2607	c.2111G>A	c.(2110-2112)gGa>gAa	p.G704E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	704					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)		CAGACACAAGGAAAAGTCTAT	0.373000													24	19					0	0	0.002780	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918420	51918420	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:51918420T>G	ENST00000524365.1	+	5	914	c.289T>G	c.(289-291)Tat>Gat	p.Y97D	SERPINE3_ENST00000400389.4_Missense_Mutation_p.Y97D|SERPINE3_ENST00000521255.1_Missense_Mutation_p.Y97D			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	97					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GCATGCTGTTTATGCCACACT	0.507000													13	29					0	0	0.003163	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117358151	117358151	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:117358151A>G	ENST00000160373.3	-	22	4758	c.4667T>C	c.(4666-4668)tTa>tCa	p.L1556S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1556										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAACATCCTTAAATCATCCCT	0.423000													19	23					0	0	0.010504	0	0
POLQ	10721	broad.mit.edu	37	3	121207613	121207613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121207613G>A	ENST00000264233.5	-	16	4293	c.4165C>T	c.(4165-4167)Cat>Tat	p.H1389Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1389					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGGTCCAAATGATCTATCTTA	0.428000								DNA polymerases (catalytic subunits)					22	32					0	0	0.012319	0	0
ZNF618	114991	broad.mit.edu	37	9	116769719	116769719	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116769719G>A	ENST00000288466.7	+	6	643	c.544_splice	c.e6+1	p.V182_splice	ZNF618_ENST00000374126.5_Splice_Site_p.V214_splice	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGCAGTGGATGGTGAGTCAGG	0.572000													11	15					0	0	0.002450	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:96706498C>T	ENST00000389672.5	+	3	813	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R259C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R165C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	164						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R165S(2)|p.R259S(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						TTTGGGTGATCGCATCCTCAA	0.443000													113	148					0	0	0.014410	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966932	7966932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7966932C>T	ENST00000543909.1	-	16	2302	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SLC2A14_ENST00000340749.5_Missense_Mutation_p.E492K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E406K|SLC2A14_ENST00000542505.1_Missense_Mutation_p.E156K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E492K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E406K|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E515K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E530K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	515					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGGTGGTCTCCTTAGCAGGC	0.547000													66	121					0	0	0.014410	0	0
CD4	920	broad.mit.edu	37	12	6928051	6928051	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:6928051C>T	ENST00000011653.4	+	9	1575	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	439	HIV-1 Vpu-susceptibility domain.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGAGACTCCTCAGTGAGAAGA	0.602000													20	18					0	0	0.012319	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590995	234590995	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234590995A>C	ENST00000373426.3	+	1	412	c.412A>C	c.(412-414)Aag>Cag	p.K138Q	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAATACTTAAAGGAGAGTTG	0.373000													60	87					0	0	0.014410	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307027	120307027	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120307027C>T	ENST00000369406.3	-	2	376	c.327G>A	c.(325-327)gtG>gtA	p.V109V	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.V109V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	109					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCCGTTGCACCACCGTCAGGC	0.537000													237	413					0	0	0.014410	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674078	70674078	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:70674078C>A	ENST00000260126.3	-	3	1646	c.940G>T	c.(940-942)Gca>Tca	p.A314S	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A314S|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A314S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	314						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TATCCCACTGCAGGGCCAAGT	0.418000													20	19					1.40151e-16	1.56418e-16	0.010504	1	0
STAB2	55576	broad.mit.edu	37	12	104100699	104100699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:104100699G>A	ENST00000388887.2	+	38	4330	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1376	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAGTGTGGGGAGGGCTTCAG	0.597000													14	21					0	0	0.001855	0	0
SGK223	157285	broad.mit.edu	37	8	8185920	8185920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:8185920G>A	ENST00000520004.1	-	5	2636	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L	SGK223_ENST00000330777.4_Missense_Mutation_p.P791L			Q86YV5	SG223_HUMAN		791							ATP binding|non-membrane spanning protein tyrosine kinase activity										AAACGGAACGGGAGCAAAGAG	0.607000													17	17					0	0	0.004007	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111301	95111301	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:95111301G>A	ENST00000469935.1	+	0	1121					NR_015340.1																						CAGAGAACTCGATTTCCACTT	0.557000													17	28					0	0	0.012319	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071748	100071748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:100071748C>T	ENST00000375202.2	+	17	1606	c.254C>T	c.(253-255)tCt>tTt	p.S85F	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.S85F|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.S224F|CCDC180_ENST00000411667.2_Missense_Mutation_p.S85F|CCDC180_ENST00000357054.1_Missense_Mutation_p.S224F					coiled-coil domain containing 180																		GCAGAGCGTTCTGTGACCCTG	0.607000													22	30					0	0	0.014323	0	0
PSD4	23550	broad.mit.edu	37	2	113940600	113940600	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:113940600C>T	ENST00000245796.6	+	2	762	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.P189P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	189					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGTCTCCCCACGCCCCCTG	0.642000													23	28					0	0	0.014323	0	0
HRG	3273	broad.mit.edu	37	3	186390584	186390584	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:186390584G>A	ENST00000232003.4	+	5	647	c.567G>A	c.(565-567)ggG>ggA	p.G189G		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	189	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AGAGAGGAGGGGAAGGAACTG	0.413000													20	19					0	0	0.010504	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000													27	40					0	0	0.006320	0	0
LAMP5	24141	broad.mit.edu	37	20	9496135	9496135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:9496135G>A	ENST00000246070.2	+	2	592	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	LAMP5_ENST00000427562.2_Missense_Mutation_p.E34K	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	34						integral to membrane											ACAAGAAGTGGAAAATCTCTC	0.473000													28	47					0	0	0.006320	0	0
PCED1A	64773	broad.mit.edu	37	20	2816191	2816191	+	Missense_Mutation	SNP	G	G	A	rs147076858		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:2816191G>A	ENST00000360652.2	-	8	1784	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCED1A_ENST00000356872.3_Missense_Mutation_p.R377W	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGTCTGAGCCGCTGCCTGCAG	0.622000													15	30					0	0	0.002450	0	0
PDE12	201626	broad.mit.edu	37	3	57543412	57543412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:57543412C>T	ENST00000311180.8	+	1	1409	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	PDE12_ENST00000487257.1_Nonsense_Mutation_p.Q436*	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	436							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTCTGTTCTTCAGGTAAAGTA	0.512000													24	27					0	0	0.003330	0	0
MCM3	4172	broad.mit.edu	37	6	52134018	52134018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52134018G>A	ENST00000596288.1	-	13	1996	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	MCM3_ENST00000419835.2_Missense_Mutation_p.P566S|MCM3_ENST00000229854.7_Missense_Mutation_p.P612S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	612					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTGTAACTGGAGATGTCTAG	0.512000													80	40					0	0	0.014410	0	0
HMCN1	83872	broad.mit.edu	37	1	186014957	186014957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:186014957C>T	ENST00000271588.4	+	41	6671	c.6442C>T	c.(6442-6444)Cca>Tca	p.P2148S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2148S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2148	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAAGAAACCAGGCCTCAG	0.383000													12	47					0	0	0.013537	0	0
LMX1A	4009	broad.mit.edu	37	1	165218805	165218805	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:165218805C>T	ENST00000342310.3	-	4	718	c.336G>A	c.(334-336)aaG>aaA	p.K112K	LMX1A_ENST00000294816.2_Silent_p.K112K|LMX1A_ENST00000367893.4_Silent_p.K112K	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	112	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGTATACACTCTTCTGGGCCC	0.547000													20	54					0	0	0.010504	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318427	30318427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:30318427C>T	ENST00000375377.1	-	3	751	c.650G>A	c.(649-651)gGa>gAa	p.G217E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	217										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACATGTTCTCCTTGAATGAA	0.483000													57	97					0	0	0.014410	0	0
COL17A1	1308	broad.mit.edu	37	10	105795286	105795286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:105795286C>T	ENST00000353479.5	-	49	3744	c.3454G>A	c.(3454-3456)Ggg>Agg	p.G1152R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1107R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1152	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGGGGGCCCCGGGGGACCA	0.617000													9	17					0	0	0.006214	0	0
KCTD11	147040	broad.mit.edu	37	17	7256413	7256413	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7256413A>C	ENST00000333751.3	+	1	1206	c.152A>C	c.(151-153)tAc>tCc	p.Y51S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	51					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCCCGTGGGTACGGAGAGACA	0.662000													11	12					0	0	0.010729	0	0
CLU	1191	broad.mit.edu	37	8	27462448	27462448	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:27462448G>A	ENST00000316403.10	-	5	1227	c.822C>T	c.(820-822)ttC>ttT	p.F274F	CLU_ENST00000405140.3_Silent_p.F274F|CLU_ENST00000523500.1_Silent_p.F274F|CLU_ENST00000560366.1_Silent_p.F326F|CLU_ENST00000546343.1_Silent_p.F285F			P10909	CLUS_HUMAN	clusterin	274					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CACCTCGTATGAATTCTGTTG	0.547000													56	72					0	0	0.014410	0	0
GDF10	2662	broad.mit.edu	37	10	48428785	48428785	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48428785C>T	ENST00000224605.2	-	2	1366	c.1101G>A	c.(1099-1101)agG>agA	p.R367R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	367					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCCACTGCTTCCTCCGGGCTT	0.582000													21	27					0	0	0.002780	0	0
WNT5B	81029	broad.mit.edu	37	12	1748941	1748941	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:1748941C>T	ENST00000397196.2	+	4	652	c.420C>T	c.(418-420)acC>acT	p.T140T	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Silent_p.T140T|WNT5B_ENST00000310594.3_Silent_p.T140T	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	140					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCTCTCCACCTGCGGCTGCA	0.726000													6	21					0	0	0.001168	0	0
OR13C8	138802	broad.mit.edu	37	9	107331717	107331717	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:107331717A>T	ENST00000335040.1	+	1	269	c.269A>T	c.(268-270)aAa>aTa	p.K90I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCAGTAAAGAAAAAGGTTTCC	0.468000													60	88					0	0	0.014410	0	0
SLA2	84174	broad.mit.edu	37	20	35269709	35269709	+	Silent	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:35269709A>C	ENST00000262866.4	-	2	452	c.30T>G	c.(28-30)tcT>tcG	p.S10S	SLA2_ENST00000360672.2_Silent_p.S10S	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	10					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCTTGGCAGAGATTTTCTTC	0.547000													28	43					0	0	0.004656	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962736	55962736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:55962736C>T	ENST00000577830.1	-	2	603	c.190G>A	c.(190-192)Gac>Aac	p.D64N	CUEDC1_ENST00000360238.2_Missense_Mutation_p.D64N|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000407144.2_Missense_Mutation_p.D64N	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	64	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCGATGATGTCGTAATCCATG	0.642000													5	95					0	0	0.001168	0	0
FOXB1	27023	broad.mit.edu	37	15	60297359	60297359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:60297359C>T	ENST00000396057.4	+	2	676	c.197C>T	c.(196-198)tCc>tTc	p.S66F	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	66					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CACAACCTCTCCTTCAACGAC	0.607000													36	56					0	0	0.005524	0	0
TTC18	118491	broad.mit.edu	37	10	75051077	75051077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75051077C>T	ENST00000310715.3	-	20	2476	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	TTC18_ENST00000355577.3_Missense_Mutation_p.D255N|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.D786N|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.D786N	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	786							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCCTCAGTGTCTTCTACACCA	0.478000													41	69					0	0	0.013114	0	0
SORT1	6272	broad.mit.edu	37	1	109888410	109888410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:109888410C>T	ENST00000256637.6	-	8	984	c.926G>A	c.(925-927)gGg>gAg	p.G309E	SORT1_ENST00000538502.1_Missense_Mutation_p.G172E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	309					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GAAACGTCCCCCAAGACCAAA	0.428000													154	219					0	0	0.014410	0	0
A2ML1	144568	broad.mit.edu	37	12	8993995	8993995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:8993995C>T	ENST00000299698.7	+	11	1291	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	215						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGACTCCTTCCTCAAGAACCA	0.418000													30	40					0	0	0.010818	0	0
EPG5	57724	broad.mit.edu	37	18	43435546	43435546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:43435546C>T	ENST00000282041.5	-	43	7583	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2517					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACCTGCTGAGCTTTGGGGGTC	0.522000													19	28					0	0	0.012319	0	0
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:25398281C>T	ENST00000311936.3	-	2	229	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000256078.4_Missense_Mutation_p.G13D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	15					0	0	0.008291	0	0
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:131916288C>T	ENST00000286355.5	-	7	3733	c.1640_splice	c.e7-1	p.G547_splice	ADCY8_ENST00000377928.3_Splice_Site_p.G547_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G547G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGAATCCTCCTGTGTGTAG	0.458000										HNSCC(32;0.087)			63	90					0	0	0.014410	0	0
DDX26B	203522	broad.mit.edu	37	X	134706945	134706945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:134706945G>A	ENST00000370752.4	+	11	1827	c.1493G>A	c.(1492-1494)gGg>gAg	p.G498E	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	498										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAAATTGGGCTCTTAAAC	0.308000													13	4					0	0	0.001855	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872465	35872465	+	Silent	SNP	G	G	A	rs141298006		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:35872465G>A	ENST00000216797.5	-	3	539	c.438C>T	c.(436-438)acC>acT	p.T146T	NFKBIA_ENST00000557389.1_Silent_p.T56T|NFKBIA_ENST00000557140.1_Silent_p.T146T|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	146					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGTGTAGGGGGGTATTTCCTC	0.597000													34	75					0	0	0.004878	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194131	160194131	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:160194131G>A	ENST00000392783.2	-	32	6102	c.5607C>T	c.(5605-5607)ccC>ccT	p.P1869P	BAZ2B_ENST00000392782.1_Silent_p.P1833P|BAZ2B_ENST00000355831.2_Silent_p.P1835P|BAZ2B_ENST00000343439.5_Silent_p.P1769P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTATATCTAGGGGGTTGTCAC	0.433000													67	91					0	0	0.014410	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866672	10866672	+	Silent	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:10866672G>T	ENST00000381661.3	+	3	283	c.174G>T	c.(172-174)ggG>ggT	p.G58G	ATP6V1C2_ENST00000272238.4_Silent_p.G58G	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	58					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ATGAGTTGGGGAAACTCGACA	0.453000													16	29					6.94344e-10	7.71966e-10	0.006122	1	0
BRI3BP	140707	broad.mit.edu	37	12	125509639	125509639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:125509639C>T	ENST00000341446.8	+	3	510	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	140						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGTTCTTGTCCCTGACCCTG	0.627000													29	39					0	0	0.008361	0	0
XIRP2	129446	broad.mit.edu	37	2	168101932	168101932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:168101932C>T	ENST00000409195.1	+	9	4119	c.4030C>T	c.(4030-4032)Cat>Tat	p.H1344Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1344Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1122Y|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1169					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGGTAATTCATGGAGATGT	0.383000													19	21					0	0	0.008871	0	0
TCERG1L	256536	broad.mit.edu	37	10	132944875	132944875	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:132944875C>T	ENST00000368642.4	-	7	1168	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	361	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		ACAGGTGCATCGTTGGGTTGA	0.542000													14	25					0	0	0.004007	0	0
ASCC3	10973	broad.mit.edu	37	6	101075584	101075584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:101075584C>T	ENST00000369162.2	-	29	4868	c.4524G>A	c.(4522-4524)atG>atA	p.M1508I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1508	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAACAAGCCCATCTAGAGTA	0.353000													7	3					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55569295C>T	ENST00000395438.1	-	36	4959	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1133K|PCDH15_ENST00000395442.1_Silent_p.K370K|PCDH15_ENST00000395445.1_Silent_p.K1505K|PCDH15_ENST00000395446.1_Silent_p.K701K|PCDH15_ENST00000395440.1_Silent_p.K439K	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)			75	133					0	0	0.014410	0	0
TRIM2	23321	broad.mit.edu	37	4	154197100	154197100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:154197100C>T	ENST00000338700.5	+	3	336	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	TRIM2_ENST00000437508.2_Missense_Mutation_p.R64C|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	64						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCCAGTGTGCCGCCAGACCTC	0.567000													30	33					0	0	0.008361	0	0
HDHD3	81932	broad.mit.edu	37	9	116136008	116136008	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116136008G>C	ENST00000238379.5	-	2	1524	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HDHD3_ENST00000374180.3_Missense_Mutation_p.F209L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	209							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CAACCACCAGGAAGCTGTGCA	0.587000													28	41					0	0	0.007291	0	0
TIE1	7075	broad.mit.edu	37	1	43773225	43773225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:43773225G>A	ENST00000372476.3	+	6	974	c.895G>A	c.(895-897)Gga>Aga	p.G299R	TIE1_ENST00000538015.1_Missense_Mutation_p.G299R|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Missense_Mutation_p.G299R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	299	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGCTGGAGAGGAAGCCAGTG	0.617000													34	45					0	0	0.003271	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022706	34022706	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:34022706C>T	ENST00000374375.1	+	2	1192	c.750C>T	c.(748-750)ttC>ttT	p.F250F	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron																cervix(1)|endometrium(4)|lung(4)	9						CTGCCCCATTCTGACAGAAGC	0.552000													8	8					0	0	0.003080	0	0
CNNM1	26507	broad.mit.edu	37	10	101122015	101122015	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:101122015G>A	ENST00000356713.4	+	4	2179	c.1890G>A	c.(1888-1890)tcG>tcA	p.S630S	CNNM1_ENST00000370528.3_Silent_p.S559S|CNNM1_ENST00000446890.1_Silent_p.S559S|CNNM1_ENST00000370534.4_Silent_p.S265S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	630					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTACCTTTCGGAGAAGATCC	0.537000													11	20					0	0	0.010729	0	0
DENND3	22898	broad.mit.edu	37	8	142202455	142202455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:142202455G>A	ENST00000519811.1	+	21	3475	c.3405G>A	c.(3403-3405)atG>atA	p.M1135I	DENND3_ENST00000262585.2_Missense_Mutation_p.M1055I|DENND3_ENST00000424248.1_Missense_Mutation_p.M1003I|DENND3_ENST00000523308.1_Missense_Mutation_p.M105I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1055										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATGGTCATGAAAATGAATG	0.522000													20	39					0	0	0.010504	0	0
CDC5L	988	broad.mit.edu	37	6	44397582	44397582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:44397582C>T	ENST00000371477.3	+	14	2325	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	676					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGCAGAGCCGCTACACACG	0.408000													31	71					0	0	0.010818	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:242253243C>T	ENST00000442594.2	-	11	1757	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	PLD5_ENST00000427495.1_Silent_p.P446P|PLD5_ENST00000536534.1_Silent_p.P508P	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453000													132	108					0	0	0.014410	0	0
SYNE2	23224	broad.mit.edu	37	14	64547173	64547173	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:64547173G>A	ENST00000357395.3	+	56	11393		c.e56-1		SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCTTCTCCAGAAAATGTGGG	0.393000													34	39					0	0	0.006230	0	0
FSD2	123722	broad.mit.edu	37	15	83440853	83440853	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:83440853C>T	ENST00000334574.8	-	7	1420	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	FSD2_ENST00000541889.1_Silent_p.Q413Q			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	413	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTGAGCTGTCCTGCACTGGCC	0.612000													12	10					0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126367457	126367457	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:126367457C>T	ENST00000394329.3	+	8	7216	c.7203C>T	c.(7201-7203)atC>atT	p.I2401I	FAT4_ENST00000335110.5_Silent_p.I699I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2401	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTATAGGATCATCGGTGGAA	0.343000													24	23					0	0	0.004656	0	0
PRSS3	5646	broad.mit.edu	37	9	33795602	33795602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:33795602G>A	ENST00000379405.3	+	1	70	c.31G>A	c.(31-33)Gga>Aga	p.G11R	PRSS3_ENST00000361005.5_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Intron|PRSS3_ENST00000429677.3_Intron	NM_002771.3	NP_002762.2	P35030	TRY3_HUMAN	protease, serine, 3	0					digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGCCTTTGTGGGAGCTGCTGG	0.562000													14	26					0	0	0.003163	0	0
TLR5	7100	broad.mit.edu	37	1	223285573	223285573	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223285573G>A	ENST00000540964.1	-	4	1262	c.801C>T	c.(799-801)gcC>gcT	p.A267A	TLR5_ENST00000342210.6_Silent_p.A267A			O60602	TLR5_HUMAN	toll-like receptor 5	267					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCCAAACCCGGCACCCATGA	0.493000													56	82					0	0	0.014410	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793025	21793025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21793025G>A	ENST00000206660.6	+	14	2011	c.2011G>A	c.(2011-2013)Ggg>Agg	p.G671R	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G671R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G633R|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	671					response to stimulus|visual perception	cilium		p.G287W(1)|p.G671W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATCTGTGGGGCCACAGCC	0.507000													68	101					0	0	0.014410	0	0
MYOCD	93649	broad.mit.edu	37	17	12656125	12656125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:12656125C>T	ENST00000425538.1	+	10	1720	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	MYOCD_ENST00000395988.1_Missense_Mutation_p.P411L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P507L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCTCTGTTCCTTCTGAGCTG	0.572000													11	19					0	0	0.010729	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623343	21623343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21623343G>A	ENST00000304418.3	-	1	879	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCCCTGGGCCGAGCTCATTTT	0.488000													10	19					0	0	0.008291	0	0
PABPC4	8761	broad.mit.edu	37	1	40033455	40033455	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:40033455A>G	ENST00000372857.3	-	7	1732	c.940T>C	c.(940-942)Ttt>Ctt	p.F314L	PABPC4_ENST00000372862.3_Missense_Mutation_p.F314L|PABPC4_ENST00000372858.3_Missense_Mutation_p.F314L|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.F314L	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	314	RRM 4.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAGGAGAAAATTCTTTCCTT	0.368000													21	33					0	0	0.003954	0	0
SELE	6401	broad.mit.edu	37	1	169699598	169699598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:169699598C>T	ENST00000333360.7	-	5	829	c.690G>A	c.(688-690)tgG>tgA	p.W230*	SELE_ENST00000367779.4_Nonsense_Mutation_p.W230*|SELE_ENST00000367781.4_Nonsense_Mutation_p.W230*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367776.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367782.4_Nonsense_Mutation_p.W230*|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Nonsense_Mutation_p.W230*|SELE_ENST00000367780.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	230	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TAGGAGCACTCCATTCTCCAG	0.458000													36	119					0	0	0.008740	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:68956771C>T	ENST00000288368.4	+	8	1166	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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													37	65					0	0	0.006230	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783321	140783321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140783321G>A	ENST00000573521.1	+	1	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCCAGCGACCTGGATGA	0.438000													33	45					0	0	0.013726	0	0
KIAA1551	55196	broad.mit.edu	37	12	32145457	32145457	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:32145457T>G	ENST00000312561.4	+	6	5646	c.5232T>G	c.(5230-5232)agT>agG	p.S1744R	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		TTGGTAGCAGTCCTGTAAAAT	0.353000													49	123					0	0	0.014410	0	0
ZNF211	10520	broad.mit.edu	37	19	58145224	58145224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58145224C>T	ENST00000544273.1	+	2	365	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000299871.5_Intron|ZNF211_ENST00000347302.3_Intron|ZNF211_ENST00000391703.3_Intron			Q13398	ZN211_HUMAN	zinc finger protein 211	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		gaatatttttccaaggccaca	0.502000													4	14					0	0	0.009096	0	0
USP29	57663	broad.mit.edu	37	19	57640800	57640800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57640800G>A	ENST00000254181.4	+	4	1211	c.757G>A	c.(757-759)Ggt>Agt	p.G253S	USP29_ENST00000598197.1_Missense_Mutation_p.G253S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	253					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCCAAAAATGGTTTGACATC	0.473000													15	28					0	0	0.004990	0	0
NTNG1	22854	broad.mit.edu	37	1	107950325	107950325	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:107950325T>G	ENST00000370067.1	+	5	1709	c.1082T>G	c.(1081-1083)aTt>aGt	p.I361S	NTNG1_ENST00000370061.3_Missense_Mutation_p.I361S|NTNG1_ENST00000370065.1_Missense_Mutation_p.I361S|NTNG1_ENST00000370066.1_Missense_Mutation_p.I361S|NTNG1_ENST00000370068.1_Missense_Mutation_p.I361S|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.I361S|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.I361S|NTNG1_ENST00000370074.4_Missense_Mutation_p.I361S|NTNG1_ENST00000542803.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	361					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)		ATTTCCAGTATTGGTAGTAAG	0.318000													15	14					0	0	0.004007	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542562	21542562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21542562C>T	ENST00000298694.4	+	3	800	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R225W			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	225					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTGGGTACCCGGAGTCCTGG	0.632000													7	8					0	0	0.001984	0	0
BZRAP1	9256	broad.mit.edu	37	17	56384174	56384174	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:56384174G>A	ENST00000355701.3	-	25	6009	c.5139C>T	c.(5137-5139)ctC>ctT	p.L1713L	BZRAP1_ENST00000343736.4_Silent_p.L1713L|BZRAP1_ENST00000268893.6_Silent_p.L1653L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1713						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCCTCAAGGAGAATATCTG	0.592000													14	20					0	0	0.001855	0	0
CCAR2	57805	broad.mit.edu	37	8	22470617	22470617	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:22470617C>T	ENST00000308511.4	+	8	921	c.672C>T	c.(670-672)taC>taT	p.Y224Y	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Silent_p.Y224Y			Q8N163	K1967_HUMAN		224					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCCTCCTTACCGGGTCCACC	0.542000													13	32					0	0	0.001855	0	0
TICRR	90381	broad.mit.edu	37	15	90167479	90167479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:90167479C>T	ENST00000268138.7	+	20	4043	c.3938C>T	c.(3937-3939)aCc>aTc	p.T1313I	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.T1312I					TOPBP1-interacting checkpoint and replication regulator																		AAACTGTTTACCTCTCCTTTA	0.433000													41	71					0	0	0.014410	0	0
GABRP	2568	broad.mit.edu	37	5	170235729	170235729	+	Missense_Mutation	SNP	G	G	A	rs139800251	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:170235729G>A	ENST00000518525.1	+	9	1269	c.805G>A	c.(805-807)Gat>Aat	p.D269N	GABRP_ENST00000265294.4_Missense_Mutation_p.D269N|GABRP_ENST00000519598.1_Missense_Mutation_p.D269N|GABRP_ENST00000519385.1_Missense_Mutation_p.D269N			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	269						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATCTCTCTCGATTCAGTCCC	0.423000													25	31					0	0	0.008361	0	0
OR51A7	119687	broad.mit.edu	37	11	4928900	4928900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4928900G>A	ENST00000359350.4	+	1	301	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGCTCAAGAATTCTTCAT	0.443000													46	51					0	0	0.014410	0	0
NOS3	4846	broad.mit.edu	37	7	150699372	150699372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:150699372G>A	ENST00000297494.3	+	14	2089	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	NOS3_ENST00000467517.1_Missense_Mutation_p.D578N|NOS3_ENST00000461406.1_Missense_Mutation_p.D372N|NOS3_ENST00000484524.1_Missense_Mutation_p.D578N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	578	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGGGAATGGGGATCCCCCGGA	0.562000													6	8					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179566919	179566919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179566919C>T	ENST00000589042.1	-	108	30711	c.30487G>A	c.(30487-30489)Gca>Aca	p.A10163T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8919T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9846T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9846	Glu-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)			TACAGCTCTGCCGTGCTTCTT	0.478000													18	30					0	0	0.010504	0	0
CXXC1	30827	broad.mit.edu	37	18	47811394	47811394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:47811394C>T	ENST00000285106.6	-	7	1604	c.890G>A	c.(889-891)gGg>gAg	p.G297E	CXXC1_ENST00000589940.1_Missense_Mutation_p.G297E|CXXC1_ENST00000412036.2_Missense_Mutation_p.G297E	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	297	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ATCAAAGGCCCCTGCACAGAA	0.552000													27	40					0	0	0.003954	0	0
HERC2	8924	broad.mit.edu	37	15	28408265	28408265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28408265G>A	ENST00000261609.7	-	69	10829	c.10721C>T	c.(10720-10722)tCc>tTc	p.S3574F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3574					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)		CCCCATGCCGGAAAGCACCGC	0.647000													19	45					0	0	0.010504	0	0
DHX34	9704	broad.mit.edu	37	19	47858389	47858389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47858389G>A	ENST00000328771.4	+	3	1148	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	267	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AATCCAGCGGGAACCCAGCCT	0.597000													31	43					0	0	0.010818	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415166	213415166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:213415166C>T	ENST00000366960.3	+	11	2497	c.2347C>T	c.(2347-2349)Cat>Tat	p.H783Y	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.H571Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.H771Y|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.H486Y|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	783					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCTGTTGATCATAGTAGTTC	0.438000													39	50					0	0	0.009718	0	0
SLC25A32	81034	broad.mit.edu	37	8	104419988	104419988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:104419988G>A	ENST00000297578.4	-	2	345	c.179C>T	c.(178-180)cCg>cTg	p.P60L	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	60					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATTATATTTCGGTCTCAGTTC	0.403000													31	34					0	0	0.010818	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599155	151599155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:151599155C>T	ENST00000362032.4	+	3	929	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	275						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S275F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTCATCAACTCCTTTTACATT	0.473000													61	77					0	0	0.014410	0	0
ZNF507	22847	broad.mit.edu	37	19	32843872	32843872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:32843872C>T	ENST00000311921.3	+	2	328	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.H46Y|ZNF507_ENST00000544431.1_Missense_Mutation_p.H46Y	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCCATTAATCCATGTTATCCA	0.373000													15	20					0	0	0.003163	0	0
ATG16L1	55054	broad.mit.edu	37	2	234198983	234198983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234198983C>T	ENST00000392017.4	+	14	1671	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	ATG16L1_ENST00000347464.5_Missense_Mutation_p.R309C|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R489C|ATG16L1_ENST00000392020.4_Missense_Mutation_p.R453C|ATG16L1_ENST00000373525.5_Missense_Mutation_p.R293C	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	472					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R472C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAAGAAAATTCGTTTCTGGGA	0.418000													21	41					0	0	0.012319	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:50758484G>A	ENST00000404971.1	-	12	3687	c.2348C>T	c.(2347-2349)tCc>tTc	p.S783F	NRXN1_ENST00000406316.2_Missense_Mutation_p.S743F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S735F|NRXN1_ENST00000401669.2_Missense_Mutation_p.S743F|NRXN1_ENST00000402717.3_Missense_Mutation_p.S735F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.S743F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	743	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAACCGTAAGGAAACATCCTC	0.512000													14	9					0	0	0.002450	0	0
IRF6	3664	broad.mit.edu	37	1	209968651	209968651	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:209968651G>A	ENST00000367021.3	-	5	664	c.492C>T	c.(490-492)ccC>ccT	p.P164P	IRF6_ENST00000542854.1_Silent_p.P69P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	164					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTCAGGAAGGGGAAGGTGT	0.498000										HNSCC(57;0.16)			149	68					0	0	0.014410	0	0
UBR4	23352	broad.mit.edu	37	1	19464561	19464561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:19464561C>T	ENST00000375267.2	-	60	8849	c.8846G>A	c.(8845-8847)gGa>gAa	p.G2949E	UBR4_ENST00000375254.3_Missense_Mutation_p.G2949E|UBR4_ENST00000375217.2_Missense_Mutation_p.G2942E|UBR4_ENST00000375226.2_Missense_Mutation_p.G2925E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2949					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAGCCATCTCCCTCCTGGTG	0.557000													15	20					0	0	0.002450	0	0
WFS1	7466	broad.mit.edu	37	4	6302829	6302829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:6302829C>T	ENST00000226760.1	+	8	1477	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	WFS1_ENST00000503569.1_Missense_Mutation_p.T436I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	436					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGTCATCACCGGCTTCTTT	0.622000													146	241					0	0	0.014410	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463633	50463633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:50463633G>A	ENST00000447370.2	-	3	596	c.506C>T	c.(505-507)cCc>cTc	p.P169L	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P169L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	169	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CGGCTGCCCGGGCTCCAGGGT	0.597000													20	18					0	0	0.010818	0	0
USP36	57602	broad.mit.edu	37	17	76823413	76823413	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:76823413G>A	ENST00000312010.6	-	6	927	c.603C>T	c.(601-603)ttC>ttT	p.F201F	USP36_ENST00000590546.2_Silent_p.F201F|USP36_ENST00000542802.2_Silent_p.F201F|USP36_ENST00000589424.1_Silent_p.F201F	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	201					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCCAAAGCGGAAGTGTCGGG	0.572000													4	24					0	0	0.000602	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718588	103718588	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:103718588C>T	ENST00000245312.3	-	1	608	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	4					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)					CACAGCTGTTCGGATCATTCA	0.517000													26	38					0	0	0.005443	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883880	19883880	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:19883880G>A	ENST00000300571.2	-	2	479	c.288C>T	c.(286-288)caC>caT	p.H96H	GPRC5B_ENST00000537135.1_Silent_p.H122H|GPRC5B_ENST00000569847.1_Silent_p.H96H|GPRC5B_ENST00000535671.1_Silent_p.H96H|GPRC5B_ENST00000569479.1_Silent_p.H96H	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	96										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAACAGAAAGTGGAGGCCCA	0.622000													15	22					0	0	0.004007	0	0
TMEM26	219623	broad.mit.edu	37	10	63195962	63195962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:63195962G>A	ENST00000399298.3	-	2	604	c.236C>T	c.(235-237)tCa>tTa	p.S79L	TMEM26_ENST00000399293.1_Missense_Mutation_p.S79L	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	79						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGCCATAATGATGGAACGAT	0.343000													10	26					0	0	0.008291	0	0
FFAR1	2864	broad.mit.edu	37	19	35843008	35843008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35843008G>A	ENST00000246553.2	+	1	564	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	185					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCCGCTTCAGCCTCTCTCTC	0.682000													13	16					0	0	0.002450	0	0
MEGF8	1954	broad.mit.edu	37	19	42867222	42867222	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:42867222C>T	ENST00000334370.4	+	34	6515	c.5880C>T	c.(5878-5880)tcC>tcT	p.S1960S	MEGF8_ENST00000251268.6_Silent_p.S2027S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2027	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCATCCTCTCCGTGCAGCCCA	0.652000													6	14					0	0	0.008291	0	0
ZNF609	23060	broad.mit.edu	37	15	64791939	64791939	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:64791939C>T	ENST00000326648.3	+	1	449	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ZNF609_ENST00000416172.1_Silent_p.S107S	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	107						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGACTTCCCTGTTCACTC	0.547000													19	27					0	0	0.007413	0	0
PLCB1	23236	broad.mit.edu	37	20	8722119	8722119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:8722119G>A	ENST00000378641.3	+	23	2897	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E808K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E808K|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	808					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E808K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGATGTCATCGAAGCTTTATC	0.383000													7	12					0	0	0.003080	0	0
TGM5	9333	broad.mit.edu	37	15	43548859	43548859	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:43548859T>C	ENST00000220420.5	-	4	469	c.462A>G	c.(460-462)gaA>gaG	p.E154E	TGM5_ENST00000349114.4_Silent_p.E72E	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	154					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		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;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTCTGGGGTTCACTGTCCA	0.522000													55	61					0	0	0.014410	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350076	134350076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:134350076C>T	ENST00000357304.4	+	15	2615	c.2560C>T	c.(2560-2562)Cca>Tca	p.P854S	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	854							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGTGTTCCCCATTGGAGCC	0.527000													12	8					0	0	0.001855	0	0
C10orf129	142827	broad.mit.edu	37	10	96970436	96970436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:96970436G>A	ENST00000341686.3	+	5	766	c.641G>A	c.(640-642)aGg>aAg	p.R214K	C10orf129_ENST00000394005.3_Missense_Mutation_p.R214K|C10orf129_ENST00000430183.1_Missense_Mutation_p.R59K	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	214					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACCTACATGAGGACCAAAAGC	0.478000													25	29					0	0	0.005443	0	0
ETV1	2115	broad.mit.edu	37	7	13971334	13971334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:13971334G>A	ENST00000343495.5	-	8	1279	c.541C>T	c.(541-543)Cct>Tct	p.P181S	ETV1_ENST00000399357.3_Missense_Mutation_p.P96S|ETV1_ENST00000405192.2_Missense_Mutation_p.P199S|ETV1_ENST00000420159.2_Missense_Mutation_p.P141S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.P199S|ETV1_ENST00000403527.1_Missense_Mutation_p.P159S|ETV1_ENST00000242066.5_Missense_Mutation_p.P181S|ETV1_ENST00000405358.4_Missense_Mutation_p.P213S|ETV1_ENST00000403685.1_Missense_Mutation_p.P181S|ETV1_ENST00000405218.2_Missense_Mutation_p.P199S			P50549	ETV1_HUMAN	ets variant 1	199					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGCAAAGGAGGAAAGGAG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								13	28					0	0	0.013537	0	0
PDS5A	23244	broad.mit.edu	37	4	39846297	39846297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:39846297G>A	ENST00000303538.8	-	30	4066	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1176					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCCGGTTGAAGGGTTCAGCTC	0.388000													33	53					0	0	0.003271	0	0
TEX15	56154	broad.mit.edu	37	8	30701209	30701209	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:30701209C>T	ENST00000256246.2	-	1	5399	c.5325G>A	c.(5323-5325)agG>agA	p.R1775R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1775										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTCTTTTCCCTTTTTGTTT	0.318000													10	16					0	0	0.006214	0	0
MYH13	8735	broad.mit.edu	37	17	10267715	10267715	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10267715C>G	ENST00000418404.3	-	2	296	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	MYH13_ENST00000252172.4_Missense_Mutation_p.E45Q|MYH13_ENST00000570743.1_Missense_Mutation_p.E45Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	45	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATACATTTCCTTATTATCC	0.448000													9	20					0	0	0.010729	0	0
PRKD2	25865	broad.mit.edu	37	19	47219569	47219569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47219569G>A	ENST00000433867.1	-	2	536	c.59C>T	c.(58-60)cCt>cTt	p.P20L	PRKD2_ENST00000291281.4_Missense_Mutation_p.P20L|PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000595515.1_Missense_Mutation_p.P20L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	20					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGGGGGCGGAGGAGACCCCGG	0.761000													10	16					0	0	0.008291	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455560	187455560	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:187455560G>A	ENST00000307161.5	-	2	537	c.336C>T	c.(334-336)atC>atT	p.I112I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	112					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATATGGAGCCGATGACGCTCA	0.527000													27	22					0	0	0.009535	0	0
KIT	3815	broad.mit.edu	37	4	55595626	55595626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:55595626C>T	ENST00000288135.5	+	14	2213	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	706	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATAAGAATCTTCTGCATTC	0.373000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				38	50					0	0	0.004289	0	0
CMYA5	202333	broad.mit.edu	37	5	79030995	79030995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:79030995C>T	ENST00000446378.2	+	2	6438	c.6407C>T	c.(6406-6408)tCc>tTc	p.S2136F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2136						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)		AAACCCATCTCCTCAATCCAT	0.448000													33	32					0	0	0.013726	0	0
FBXL3	26224	broad.mit.edu	37	13	77595986	77595986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:77595986C>T	ENST00000355619.5	-	2	334	c.10G>A	c.(10-12)Gga>Aga	p.G4R		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	4					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTCTTCCTCCTCGTTTCATC	0.378000													43	57					0	0	0.009718	0	0
LAMA5	3911	broad.mit.edu	37	20	60910129	60910129	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60910129G>A	ENST00000252999.3	-	20	2496	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	810	Laminin EGF-like 10.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCCTTGCAGGACGCGCAGG	0.667000													22	31					0	0	0.003330	0	0
WNT10A	80326	broad.mit.edu	37	2	219757713	219757713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219757713C>T	ENST00000258411.3	+	4	1607	c.974C>T	c.(973-975)cCc>cTc	p.P325L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	325					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ccgggcgctcccgggccgcgc	0.766000													7	5					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	34130072	34130072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:34130072C>T	ENST00000389232.4	+	89	11961	c.11891C>T	c.(11890-11892)tCg>tTg	p.S3964L	RYR3_ENST00000415757.3_Missense_Mutation_p.S3959L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3964					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)		TTTCTCCTGTCGTGTGCAGAA	0.428000													42	59					0	0	0.011902	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967284	41967284	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:41967284C>T	ENST00000298919.7	+	10	2311	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	PDZRN4_ENST00000539469.2_Silent_p.I643I|PDZRN4_ENST00000402685.2_Silent_p.I901I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	901							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)				CACGGTACATCACAAAGAGAC	0.522000													30	41					0	0	0.012213	0	0
ZBED2	79413	broad.mit.edu	37	3	111312560	111312560	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:111312560C>T	ENST00000317012.4	-	2	1497	c.489G>A	c.(487-489)agG>agA	p.R163R	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	163							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CTGCCCTTTCCCTCCTAAGCA	0.602000													33	62					0	0	0.003755	0	0
PNISR	25957	broad.mit.edu	37	6	99851719	99851719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:99851719G>A	ENST00000369239.5	-	10	1346	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	PNISR_ENST00000438806.1_Missense_Mutation_p.S381F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	381						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCAGTGAGGGAAGCCAGTGC	0.428000													14	4					0	0	0.003163	0	0
GJA10	84694	broad.mit.edu	37	6	90604507	90604507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:90604507G>A	ENST00000369352.1	+	1	320	c.320G>A	c.(319-321)aGg>aAg	p.R107K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	107					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAGAAAGACAGGCAGAGGAAA	0.458000													21	6					0	0	0.012319	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95600017	95600017	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:95600017G>A	ENST00000473204.1	+	0	2098																											GACACCTGAGGAAAGGGTACT	0.393000													5	4					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179528791	179528791	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179528791C>T	ENST00000589042.1	-	169	36539	c.36315G>A	c.(36313-36315)aaG>aaA	p.K12105K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10254	Ig-like 80.						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)			CCGACACTTTCTTTTCAGGGA	0.383000													32	47					0	0	0.009718	0	0
IL18R1	8809	broad.mit.edu	37	2	103011085	103011085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:103011085G>A	ENST00000409599.1	+	11	1624	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	IL18R1_ENST00000233957.1_Missense_Mutation_p.G423E			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	423	TIR.		G -> R (in dbSNP:rs12619169).		innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGCCTGGAGGAGGTAAGAGG	0.408000													14	17					0	0	0.006122	0	0
BRINP2	57795	broad.mit.edu	37	1	177225096	177225096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:177225096G>A	ENST00000361539.4	+	3	623	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCTGGAAAGGAAGGACTTC	0.493000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	126					0	0	0.012213	0	0
SDK1	221935	broad.mit.edu	37	7	4153058	4153058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4153058G>A	ENST00000404826.2	+	24	3711	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1191Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCCTGCGGCTTCGCTGG	0.637000													51	76					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158632726	158632726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:158632726C>T	ENST00000368148.3	-	17	2410	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D744N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	744					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)					GTAAGGATATCCACCTGATCC	0.428000													21	71					0	0	0.003330	0	0
LRRC25	126364	broad.mit.edu	37	19	18507678	18507678	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18507678C>T	ENST00000339007.3	-	1	749	c.96G>A	c.(94-96)gtG>gtA	p.V32V	LRRC25_ENST00000595840.1_Silent_p.V32V	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	32						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CGTTCCAGTCCACATCCGCGG	0.627000													10	21					0	0	0.010729	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:141315179C>T	ENST00000325617.5	-	11	1606	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_ENST00000537281.1_Missense_Mutation_p.R389Q|CLGN_ENST00000414773.1_Missense_Mutation_p.R389Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	389					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)					AGGAATTTTTCGAGGACTCCA	0.343000													13	20					0	0	0.002450	0	0
BRD4	23476	broad.mit.edu	37	19	15366211	15366211	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15366211G>A	ENST00000263377.2	-	10	2165	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	BRD4_ENST00000360016.5_Silent_p.N648N|BRD4_ENST00000371835.4_Silent_p.N648N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	648					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTCGTCGGGGTTGGAATTCT	0.577000			T	C15orf55	lethal midline carcinoma of young people								18	33					0	0	0.004990	0	0
CNOT6	57472	broad.mit.edu	37	5	179977018	179977018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:179977018C>T	ENST00000393356.1	+	5	624	c.200C>T	c.(199-201)cCt>cTt	p.P67L	CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.P67L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	67					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCCCGAATTCCTTCAGACATT	0.428000													41	131					0	0	0.008740	0	0
MYO3A	53904	broad.mit.edu	37	10	26465656	26465656	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:26465656C>T	ENST00000265944.5	+	31	4486	c.4320C>T	c.(4318-4320)ttC>ttT	p.F1440F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1440					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATATTTCATTCTGCAGA	0.383000													8	12					0	0	0.003080	0	0
DSCAM	1826	broad.mit.edu	37	21	41741060	41741060	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:41741060C>T	ENST00000400454.1	-	4	1098	c.621G>A	c.(619-621)acG>acA	p.T207T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	207	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.T207T(1)		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)				TGCTCTGCCTCGTCTCTCCGG	0.448000													18	38					0	0	0.008871	0	0
VIT	5212	broad.mit.edu	37	2	37041367	37041367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:37041367G>A	ENST00000379242.3	+	16	2247	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	VIT_ENST00000404084.1_Missense_Mutation_p.E586K|VIT_ENST00000497382.1_Missense_Mutation_p.E303K|VIT_ENST00000379241.3_Missense_Mutation_p.E612K|VIT_ENST00000401530.1_Missense_Mutation_p.E613K|VIT_ENST00000389975.3_Missense_Mutation_p.E634K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	634	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGCCCAAGAGGAGCTAGA	0.512000													22	25					0	0	0.003954	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623769	21623769	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21623769T>A	ENST00000304418.3	-	1	453	c.416A>T	c.(415-417)aAg>aTg	p.K139M		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CACTTTCCTCTTGGCCAAGAA	0.517000													17	33					0	0	0.004007	0	0
FLG	2312	broad.mit.edu	37	1	152286710	152286710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152286710C>T	ENST00000368799.1	-	3	687	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	218					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)			CCTGTATTTTCATAATCATAT	0.353000									Ichthyosis				19	142					0	0	0.007413	0	0
COL22A1	169044	broad.mit.edu	37	8	139701184	139701184	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:139701184C>T	ENST00000303045.6	-	37	3284	c.2838G>A	c.(2836-2838)ggG>ggA	p.G946G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G946G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	946	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCATCTTTCCCTGGGGTGC	0.522000										HNSCC(7;0.00092)			42	55					0	0	0.008740	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					synaptic transmission	integral to plasma membrane		p.M518I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000													30	50					0	0	0.007291	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74538651	74538651	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74538651C>T	ENST00000553458.1	-	5	473	c.375G>A	c.(373-375)ttG>ttA	p.L125L	ALDH6A1_ENST00000350259.4_Silent_p.L112L|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	125						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCCTTGTTCCAATGTGATTA	0.418000													34	31					0	0	0.003755	0	0
HOXB4	3214	broad.mit.edu	37	17	46655307	46655307	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:46655307G>A	ENST00000332503.5	-	1	2166	c.375C>T	c.(373-375)aaC>aaT	p.N125N	HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	125	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTGCAGGGGGTTCTGGGCGC	0.751000													40	20					0	0	0.013114	0	0
ACSM1	116285	broad.mit.edu	37	16	20682984	20682984	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:20682984G>A	ENST00000307493.4	-	4	688	c.621C>T	c.(619-621)tcC>tcT	p.S207S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S207S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	207					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGTGTTCTGGGGATGCTGATC	0.468000													32	37					0	0	0.009718	0	0
CLRN1	7401	broad.mit.edu	37	3	150690456	150690456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:150690456C>T	ENST00000327047.1	-	1	330	c.40G>A	c.(40-42)Gga>Aga	p.G14R	CLRN1_ENST00000328863.4_Missense_Mutation_p.G14R|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	14					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGAACACTCCGGCCATGCAA	0.502000													26	36					0	0	0.004656	0	0
NETO1	81832	broad.mit.edu	37	18	70417514	70417514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:70417514C>T	ENST00000327305.6	-	9	1981	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	NETO1_ENST00000299430.2_Missense_Mutation_p.G441S|NETO1_ENST00000583169.1_Missense_Mutation_p.G442S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	442					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGCGGCTGCCTTTAGTGCTG	0.468000													18	25					0	0	0.007413	0	0
USP18	11274	broad.mit.edu	37	22	18644647	18644647	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:18644647G>A	ENST00000215794.7	+	4	775	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	115					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						ACAGCCGGCAGAAAGCAGTGC	0.617000													13	23					0	0	0.001855	0	0
ARGFX	503582	broad.mit.edu	37	3	121289622	121289622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121289622C>T	ENST00000334384.3	+	1	72	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGGAATTATTCCAACATGAAG	0.478000													33	36					0	0	0.009718	0	0
FAM179A	165186	broad.mit.edu	37	2	29222116	29222116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29222116G>A	ENST00000379558.4	+	4	560	c.209G>A	c.(208-210)gGa>gAa	p.G70E	FAM179A_ENST00000403861.2_Missense_Mutation_p.G70E	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	70							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGGACTCGGACAGCTGGGT	0.627000													11	19					0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461488	79461488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79461488C>T	ENST00000376718.3	-	4	574	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.E151K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	151					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGAGAATCTCCTTTAGCACG	0.478000													20	28					0	0	0.008871	0	0
UNK	85451	broad.mit.edu	37	17	73812881	73812881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:73812881C>T	ENST00000293218.3	+	9	1220	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	UNK_ENST00000589666.1_Missense_Mutation_p.S331F			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	331							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCAGCCTTCCTCAGCTGTG	0.662000													11	24					0	0	0.001855	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90497933	90497933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:90497933G>A	ENST00000325643.5	+	1	193	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ACTTCAGATGGAGAAAATGCT	0.567000													14	19					0	0	0.003163	0	0
RCN1	5954	broad.mit.edu	37	11	32126010	32126010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:32126010G>A	ENST00000054950.3	+	6	1281	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RCN1_ENST00000532942.1_Missense_Mutation_p.E279K|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	330						endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AAATCATGATGAGCTTTGATA	0.393000													21	5					0	0	0.003954	0	0
NKD1	85407	broad.mit.edu	37	16	50667172	50667172	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:50667172A>C	ENST00000268459.3	+	10	1117	c.893A>C	c.(892-894)cAt>cCt	p.H298P		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	298					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCTCGCTCCCATGAGCCGGAA	0.592000													44	75					0	0	0.014410	0	0
C19orf57	79173	broad.mit.edu	37	19	14000670	14000670	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:14000670G>A	ENST00000454313.1	-	6	1057	c.999C>T	c.(997-999)tcC>tcT	p.S333S	C19orf57_ENST00000586783.1_Silent_p.S333S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S333S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	333					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCATCCCGAGGGAGGAGCATC	0.652000													14	11					0	0	0.002450	0	0
NKAPL	222698	broad.mit.edu	37	6	28228056	28228056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28228056G>A	ENST00000343684.3	+	1	959	c.907G>A	c.(907-909)Ggt>Agt	p.G303S		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TTTGCTTCCCGGTGAAGGTGC	0.428000													67	13					0	0	0.014410	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825688	111825688	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:111825688C>T	ENST00000369743.4	+	0	1233					NR_003928.1																						GCTGGCATCTCCAACATCCAG	0.517000													21	35					0	0	0.002780	0	0
MYD88	4615	broad.mit.edu	37	3	38181467	38181467	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:38181467C>T	ENST00000417037.2	+	2	664	c.480C>T	c.(478-480)atC>atT	p.I160I	MYD88_ENST00000495303.1_Intron|MYD88_ENST00000443433.2_Silent_p.I160I|MYD88_ENST00000424893.1_Intron|MYD88_ENST00000396334.3_Silent_p.I160I|MYD88_ENST00000481122.1_3'UTR	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	147	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCGGGCATCACCACACTTG	0.532000			Mis		ABC-DLBCL								15	19					0	0	0.003163	0	0
STRA6	64220	broad.mit.edu	37	15	74487792	74487792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:74487792C>T	ENST00000323940.5	-	7	693	c.448G>A	c.(448-450)Gga>Aga	p.G150R	STRA6_ENST00000449139.2_Missense_Mutation_p.G150R|STRA6_ENST00000535552.1_Missense_Mutation_p.G187R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.G165R|STRA6_ENST00000563965.1_Missense_Mutation_p.G189R|STRA6_ENST00000395105.4_Missense_Mutation_p.G150R|STRA6_ENST00000423167.2_Missense_Mutation_p.G141R|STRA6_ENST00000416286.3_Missense_Mutation_p.G142R|STRA6_ENST00000432245.2_3'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	150					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAGAACAGTCCCAGTATCTTC	0.627000													15	26					0	0	0.003163	0	0
HTRA1	5654	broad.mit.edu	37	10	124266317	124266317	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:124266317C>T	ENST00000368984.3	+	4	1016	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	296	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCACCGGGATCGTGAGCACCA	0.617000													29	46					0	0	0.009535	0	0
KRT37	8688	broad.mit.edu	37	17	39580346	39580346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39580346C>A	ENST00000225550.3	-	1	429	c.430G>T	c.(430-432)Gag>Tag	p.E144*	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	144	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACGGTGGACTCGTGGCACTTG	0.607000													25	52					2.27525e-19	2.54913e-19	0.003954	1	0
CELSR1	9620	broad.mit.edu	37	22	46930583	46930583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:46930583G>A	ENST00000262738.3	-	1	2484	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*	CELSR1_ENST00000395964.1_Nonsense_Mutation_p.Q829*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	829	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTCCTGAATCACGTAG	0.577000													29	36					0	0	0.007291	0	0
STARD13	90627	broad.mit.edu	37	13	33684994	33684994	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:33684994C>T	ENST00000336934.5	-	11	2774	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	STARD13_ENST00000255486.4_Silent_p.E878E|STARD13_ENST00000399365.3_Silent_p.E768E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	886					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCACGTGGATCTCAGCCTCCA	0.547000													26	21					0	0	0.009535	0	0
MYOCD	93649	broad.mit.edu	37	17	12639565	12639565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:12639565G>A	ENST00000425538.1	+	6	703	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	MYOCD_ENST00000395988.1_Missense_Mutation_p.R72Q|MYOCD_ENST00000343344.4_Missense_Mutation_p.R168Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	168	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R168Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GATCAGACTCGAAGTGAAGAC	0.527000													83	109					0	0	0.014410	0	0
OR5J2	282775	broad.mit.edu	37	11	55944228	55944228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:55944228G>A	ENST00000312298.1	+	1	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					ATCTGGGCATGATCCTCTTAA	0.418000													69	78					0	0	0.014410	0	0
OR2G2	81470	broad.mit.edu	37	1	247752608	247752608	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247752608T>A	ENST00000320065.1	+	1	947	c.947T>A	c.(946-948)aTt>aAt	p.I316N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAGtaaatattttatgatta	0.328000													56	33					0	0	0.014410	0	0
HAL	3034	broad.mit.edu	37	12	96370260	96370260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96370260G>A	ENST00000261208.3	-	20	2148	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	HAL_ENST00000538703.1_Intron|HAL_ENST00000541929.1_Missense_Mutation_p.R386C	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	594					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GCCATGAAGCGATCTTTTATC	0.512000													32	43					0	0	0.009535	0	0
WIZ	58525	broad.mit.edu	37	19	15547870	15547870	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15547870C>T	ENST00000389282.4	-	4	2556	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	WIZ_ENST00000263381.6_Silent_p.R92R|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	781						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGAGGCCGGCCCGTGTGTCGA	0.627000													14	12					0	0	0.003163	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689234	27689234	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:27689234T>C	ENST00000261588.4	+	7	744	c.725T>C	c.(724-726)gTt>gCt	p.V242A	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	242										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAGAAAGATGTTCACGGGGAA	0.567000													23	33					0	0	0.003330	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959832	29959832	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:29959832G>A	ENST00000378993.1	+	9	1795	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	IL1RAPL1_ENST00000302196.4_Silent_p.L374L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	374					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGTATGTTTGGTGACCATCT	0.408000													54	11					0	0	0.014410	0	0
SCRN1	9805	broad.mit.edu	37	7	29980343	29980343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:29980343G>A	ENST00000426154.1	-	5	870	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	SCRN1_ENST00000409497.1_Missense_Mutation_p.H232Y|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.H232Y	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	232					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTCTAGATGATCCTCAACT	0.498000													40	57					0	0	0.008740	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481855	142481855	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142481855G>A	ENST00000603901.1	+	0	534					NR_001296.3																						ACCCTTTAAAGATTACCAGCA	0.527000													53	71					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179587434	179587434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179587434C>T	ENST00000589042.1	-	76	22416	c.22192G>A	c.(22192-22194)Gaa>Aaa	p.E7398K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6154K|TTN_ENST00000591111.1_Missense_Mutation_p.E7081K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7081	Ig-like 56.						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)			ATACTATTTTCTGCTTTGCAT	0.338000													11	20					0	0	0.010729	0	0
TEX15	56154	broad.mit.edu	37	8	30704454	30704454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:30704454C>T	ENST00000256246.2	-	1	2154	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	694										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTATGTGTATCTTGTTGAAAT	0.333000													16	35					0	0	0.006122	0	0
TAF1A	9015	broad.mit.edu	37	1	222734783	222734783	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:222734783C>G	ENST00000350027.4	-	10	1316	c.1163G>C	c.(1162-1164)tGg>tCg	p.W388S	TAF1A_ENST00000366890.1_Missense_Mutation_p.W274S|TAF1A_ENST00000391882.1_Missense_Mutation_p.W274S|TAF1A_ENST00000352967.4_Missense_Mutation_p.W388S	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	388					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ACTTTTTGCCCAAAAGTAGCT	0.408000													341	464					0	0	0.014410	0	0
PDE11A	50940	broad.mit.edu	37	2	178936668	178936668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:178936668G>A	ENST00000286063.5	-	1	814	c.497C>T	c.(496-498)cCc>cTc	p.P166L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	166					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGCTGTGGTGGGGGGCAGGGA	0.572000									Primary Pigmented Nodular Adrenocortical Disease, Familial				30	42					0	0	0.010818	0	0
LILRB1	10859	broad.mit.edu	37	19	55143953	55143953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55143953C>T	ENST00000396331.1	+	7	1057	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LILRB1_ENST00000396317.1_Missense_Mutation_p.P234S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P234S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P234S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P234S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P234S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P234S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P270S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P234S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P234S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P234S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	234	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P234S(1)		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)		GCAGCCAGGTCCTATCGTGGC	0.537000										HNSCC(37;0.09)			30	52					0	0	0.010818	0	0
SLA2	84174	broad.mit.edu	37	20	35269708	35269708	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:35269708G>A	ENST00000262866.4	-	2	453	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	SLA2_ENST00000360672.2_Silent_p.L11L	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	11					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGCTTGGCAGAGATTTTCTT	0.552000													28	43					0	0	0.005443	0	0
ALG2	85365	broad.mit.edu	37	9	101980729	101980729	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:101980729G>A	ENST00000476832.1	-	2	799	c.738C>T	c.(736-738)gcC>gcT	p.A246A	ALG2_ENST00000319033.6_Silent_p.A153A	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	246					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.A246A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GCTGTACTAGGGCTTCCAGTG	0.488000													54	97					0	0	0.014410	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852170	20852170	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:20852170T>C	ENST00000382148.3	-	2	545	c.209A>G	c.(208-210)aAg>aGg	p.K70R	KCNIP4_ENST00000382150.4_Missense_Mutation_p.K74R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.K33R|KCNIP4_ENST00000509207.1_Missense_Mutation_p.K33R|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.K95R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.K61R	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	95	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCTTACATTCTTAAATCCTCT	0.443000													45	69					0	0	0.014410	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334373	39334373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39334373C>T	ENST00000377726.2	-	1	87	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	15	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTCTAGGCCACAGCCCTGGTC	0.612000													34	56					0	0	0.004289	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619498	7619498	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7619498C>T	ENST00000221249.6	+	24	2840	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	PNPLA6_ENST00000545201.2_Silent_p.I776I|PNPLA6_ENST00000450331.3_Silent_p.I803I|PNPLA6_ENST00000414982.3_Silent_p.I851I|PNPLA6_ENST00000600737.1_Silent_p.I841I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	842					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACACCGTATCGTACTCTACC	0.662000													23	43					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179580331	179580331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179580331C>T	ENST00000589042.1	-	89	26034	c.25810G>A	c.(25810-25812)Gtg>Atg	p.V8604M	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7360M|TTN_ENST00000591111.1_Missense_Mutation_p.V8287M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8287							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)			AGCACAGCCACCGAGTCAACG	0.468000													13	24					0	0	0.013537	0	0
MLXIPL	51085	broad.mit.edu	37	7	73009996	73009996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:73009996G>A	ENST00000313375.3	-	15	2328	c.2281C>T	c.(2281-2283)Cgt>Tgt	p.R761C	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R759C|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R742C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R740C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R668C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R667C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	761					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)				TGCAGCGTACGGGTTCGGACG	0.632000													11	21					0	0	0.001855	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172136	47172136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:47172136G>A	ENST00000447411.1	-	11	1215	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P337S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	337					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACTAGGATAGGAATTGCATAG	0.393000													17	18					0	0	0.007413	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004896	52004896	+	Missense_Mutation	SNP	G	G	A	rs150618212		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52004896G>A	ENST00000291707.3	-	1	147	c.92C>T	c.(91-93)tCc>tTc	p.S31F		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	31	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACCGTCACGGACTTCTGCAT	0.572000													11	31					0	0	0.008291	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163577	32163577	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:32163577C>T	ENST00000564145.1	-	0	65																											GCACAGGCGACCATCGATGCC	0.592000													7	22					0	0	0.003080	0	0
C11orf74	119710	broad.mit.edu	37	11	36631725	36631725	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:36631725C>T	ENST00000446510.2	+	2	171	c.72C>T	c.(70-72)ttC>ttT	p.F24F	C11orf74_ENST00000347206.4_Silent_p.F24F|C11orf74_ENST00000334307.5_Silent_p.F24F|C11orf74_ENST00000534635.1_Silent_p.F24F			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	24										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				TGGATAAATTCCTTAATTGTC	0.358000													18	29					0	0	0.007413	0	0
EML5	161436	broad.mit.edu	37	14	89109309	89109309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:89109309G>A	ENST00000554922.1	-	31	4413	c.4165C>T	c.(4165-4167)Cac>Tac	p.H1389Y	EML5_ENST00000380664.5_Missense_Mutation_p.H1381Y|EML5_ENST00000352093.5_Missense_Mutation_p.H1343Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1381						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTAAATAGTGAACATTATTC	0.358000													37	65					0	0	0.008740	0	0
CIT	11113	broad.mit.edu	37	12	120128035	120128035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120128035G>A	ENST00000392521.2	-	47	6162	c.6107C>T	c.(6106-6108)cCc>cTc	p.P2036L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.P1994L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1994					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCCTCCCGGGGGACCGCTC	0.706000													12	14					0	0	0.010729	0	0
SHQ1	55164	broad.mit.edu	37	3	72799688	72799688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:72799688G>A	ENST00000325599.8	-	11	1620	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.P466L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	494					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTCAAGAAAGGGACCTTGCAA	0.478000													27	63					0	0	0.007291	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527498	32527498	+	RNA	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32527498C>G	ENST00000428783.1	+	0	1198																											TCAACAAGATCTGGCCTGAGT	0.478000													18	24					0	0	0.010504	0	0
EMR3	84658	broad.mit.edu	37	19	14740884	14740884	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:14740884G>A	ENST00000253673.5	-	14	1879	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	EMR3_ENST00000443157.2_Silent_p.F467F|EMR3_ENST00000599900.1_Silent_p.F378F|EMR3_ENST00000344373.4_Silent_p.F541F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	593					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCAAGAAGATGAAGAAGCCTT	0.493000													20	24					0	0	0.010504	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559378	44559378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44559378C>T	ENST00000332567.4	-	1	2610	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	753					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGAGTTTATCGTCGGGAGAA	0.537000													45	72					0	0	0.014410	0	0
SIRPD	128646	broad.mit.edu	37	20	1532579	1532579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:1532579C>T	ENST00000381623.3	-	2	1368	c.179G>A	c.(178-180)gGa>gAa	p.G60E	SIRPD_ENST00000381621.1_Missense_Mutation_p.G60E			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	60	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAAGACAGGTCCATTTGGTAA	0.443000													37	35					0	0	0.003755	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108690227G>A	ENST00000232603.5	-	25	2582	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_ENST00000483760.1_Missense_Mutation_p.P813S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000													20	37					0	0	0.010504	0	0
KIF12	113220	broad.mit.edu	37	9	116857352	116857352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116857352C>T	ENST00000374118.3	-	8	893	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	352	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCTTGCATATCGCAGGGTGCT	0.657000													13	23					0	0	0.001855	0	0
CARKD	55739	broad.mit.edu	37	13	111287046	111287046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:111287046C>T	ENST00000309957.2	+	7	588	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	CARKD_ENST00000424185.2_Missense_Mutation_p.P82S|CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.P61S	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	192	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CGCTCAGCAGCCGGCCCTCAT	0.617000													14	20					0	0	0.002450	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44560508G>A	ENST00000332567.4	-	1	1480	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000													28	49					0	0	0.009535	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228679	57228679	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:57228679C>T	ENST00000396721.2	-	2	358	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SDR16C5_ENST00000303749.3_Silent_p.G76G|SDR16C5_ENST00000522671.1_Silent_p.G76G			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTCCTCATTCCCCTCCTTAT	0.522000													47	58					0	0	0.013114	0	0
CRP	1401	broad.mit.edu	37	1	159683428	159683428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:159683428C>T	ENST00000255030.5	-	2	665	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CRP_ENST00000368111.1_Missense_Mutation_p.E66K|CRP_ENST00000368110.1_Missense_Mutation_p.E66K|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000437342.1_Missense_Mutation_p.E10K|CRP_ENST00000343919.2_Missense_Mutation_p.E66K	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	188	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTGTTAATCTCATCTGGTGAC	0.517000													54	211					0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149516521	149516521	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:149516521C>T	ENST00000378016.2	+	0	11924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCATACCGTCCCCCTGGGCCC	0.706000													8	16					0	0	0.003080	0	0
MACC1	346389	broad.mit.edu	37	7	20193832	20193832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:20193832C>T	ENST00000400331.5	-	6	2638	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	MACC1_ENST00000589011.1_Missense_Mutation_p.G777E|MACC1_ENST00000332878.4_Missense_Mutation_p.G777E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	777					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGCAACATCTCCAGTGTTTCC	0.408000													31	42					0	0	0.013726	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454000	6454000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:6454000G>A	ENST00000301454.4	-	7	1001	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SLC25A23_ENST00000334510.5_Missense_Mutation_p.P299S|SLC25A23_ENST00000414491.2_Missense_Mutation_p.P116S	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	299					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCTCCATAGGGTAAATGATG	0.602000													10	25					0	0	0.013537	0	0
GPC4	2239	broad.mit.edu	37	X	132445398	132445398	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:132445398G>A	ENST00000370828.3	-	4	1289	c.765C>T	c.(763-765)tcC>tcT	p.S255S	GPC4_ENST00000535467.1_Silent_p.S185S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	255					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCCGGCAGTGGGAGCAGTAGA	0.483000													48	12					0	0	0.014410	0	0
ALK	238	broad.mit.edu	37	2	29451801	29451801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29451801C>T	ENST00000389048.3	-	16	3670	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	922	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCACCCCCTCCGAAACCCCCT	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	20					0	0	0.013537	0	0
NOP9	161424	broad.mit.edu	37	14	24769901	24769901	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:24769901C>T	ENST00000267425.3	+	2	628	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	NOP9_ENST00000396802.3_Silent_p.L179L	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CACGGAGACCCTGGAGGAGCT	0.552000													39	73					0	0	0.008740	0	0
DNAH2	146754	broad.mit.edu	37	17	7678168	7678168	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7678168C>T	ENST00000572933.1	+	29	6053	c.4593C>T	c.(4591-4593)ttC>ttT	p.F1531F	DNAH2_ENST00000389173.2_Silent_p.F1531F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1531	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACATATTTTCCCCCGCTTCT	0.458000													37	43					0	0	0.004878	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601914	58601914	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:58601914C>T	ENST00000287275.1	-	6	1263	c.873G>A	c.(871-873)aaG>aaA	p.K291K	GLYATL2_ENST00000532258.1_Silent_p.K291K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	291						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)	AACAATATTTCTTGGGGGTGC	0.363000													26	15					0	0	0.007291	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	C	T	rs75633112		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:119727733C>T	ENST00000541757.1	+	4	389	c.9C>T	c.(7-9)ttC>ttT	p.F3F	MARCO_ENST00000327097.4_Silent_p.F81F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000													27	45					0	0	0.009535	0	0
OAS1	4938	broad.mit.edu	37	12	113346385	113346385	+	Missense_Mutation	SNP	C	C	A	rs142809544		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:113346385C>A	ENST00000452357.2	+	2	415	c.225C>A	c.(223-225)gaC>gaA	p.D75E	OAS1_ENST00000553185.1_Missense_Mutation_p.D75E|OAS1_ENST00000551241.1_Missense_Mutation_p.D75E|OAS1_ENST00000202917.5_Missense_Mutation_p.D75E|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.D75E	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	75					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCCGATCTGACGCTGACCTGG	0.498000													19	39					1.96292e-10	2.18403e-10	0.010504	1	0
LCN9	392399	broad.mit.edu	37	9	138557560	138557560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:138557560G>A	ENST00000277526.3	+	5	437	c.437G>A	c.(436-438)gGa>gAa	p.G146E	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	146						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAAAAGTACGGACTTGGCTCA	0.567000													13	16					0	0	0.003163	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416987	121416987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121416987G>A	ENST00000393667.3	-	13	2493	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.H790Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	790					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)		AGGTTGTCATGGGCAGTTTGG	0.408000													57	57					0	0	0.014410	0	0
ATP13A3	79572	broad.mit.edu	37	3	194170952	194170952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:194170952G>A	ENST00000439040.1	-	11	1683	c.892C>T	c.(892-894)Cca>Tca	p.P298S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P298S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	298					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCATTTAATGGAATGACCATG	0.338000													4	15					0	0	0.000602	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190091	58190091	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58190091A>C	ENST00000318203.5	+	5	1817	c.1120A>C	c.(1120-1122)Aaa>Caa	p.K374Q		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	374					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCATGTGTAAAAAGTCCTT	0.453000													49	82					0	0	0.014410	0	0
CPA4	51200	broad.mit.edu	37	7	129945666	129945666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:129945666G>A	ENST00000222482.4	+	6	525	c.497G>A	c.(496-498)gGg>gAg	p.G166E	CPA4_ENST00000493259.1_Missense_Mutation_p.G62E|CPA4_ENST00000445470.2_Missense_Mutation_p.G133E	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	166					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTCAGCACTGGGAAAGGCGTG	0.562000													25	24					0	0	0.004656	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763816	140763816	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140763816C>T	ENST00000518325.1	+	1	1350	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAACCCACCCACCTTCCCCC	0.512000													15	33					0	0	0.004990	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558309	140558309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140558309G>A	ENST00000239444.2	+	1	939	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		232	Cadherin 2.		E -> G (in dbSNP:rs17096954).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATTGAAGTTGTCGA	0.507000													55	64					0	0	0.014410	0	0
SPNS3	201305	broad.mit.edu	37	17	4348463	4348463	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4348463G>A	ENST00000355530.2	+	3	682	c.402_splice	c.e3+1	p.R134_splice	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	134					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCTCCCCCCGGGTACGTGTCC	0.627000													14	35					0	0	0.004007	0	0
MATN1	4146	broad.mit.edu	37	1	31194271	31194271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:31194271C>T	ENST00000373765.4	-	2	457	c.422G>A	c.(421-423)aGg>aAg	p.R141K	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	141	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGGGACCTGGAACGACC	0.607000													50	87					0	0	0.014410	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512717	35512717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35512717C>T	ENST00000599564.1	+	16	2034	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S	GRAMD1A_ENST00000504615.2_Missense_Mutation_p.P334S|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.P561S|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.P568S|CTD-2527I21.14_ENST00000605640.1_RNA			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	568						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGGGACGGGCCCCAGCACCC	0.716000													10	22					0	0	0.010729	0	0
IFT57	55081	broad.mit.edu	37	3	107885814	107885814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:107885814G>A	ENST00000264538.3	-	8	1115	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	290					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATTTCATTATGGAGTTTGTCC	0.338000													12	21					0	0	0.002450	0	0
BCMO1	53630	broad.mit.edu	37	16	81303936	81303936	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:81303936A>G	ENST00000258168.2	+	7	1477	c.1016A>G	c.(1015-1017)aAc>aGc	p.N339S	BCMO1_ENST00000425577.2_Missense_Mutation_p.N270S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	339					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						TACCTGGCCAACCTGAACCAG	0.572000													39	52					0	0	0.004878	0	0
NUTM1	256646	broad.mit.edu	37	15	34649254	34649254	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:34649254A>T	ENST00000537011.1	+	8	3427	c.3045A>T	c.(3043-3045)gaA>gaT	p.E1015D	NUTM1_ENST00000438749.3_Missense_Mutation_p.E1005D|NUTM1_ENST00000333756.4_Missense_Mutation_p.E987D					NUT midline carcinoma, family member 1																		TTCCGAGAGAAACTTCTGTTA	0.473000													14	18					0	0	0.001855	0	0
MUC3A	4584	broad.mit.edu	37	7	100552243	100552243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:100552243C>T	ENST00000319509.7	+	1	994	c.994C>T	c.(994-996)Cct>Tct	p.P332S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACCATAGTCCCTGCCTCTCC	0.478000													52	246					0	0	0.014410	0	0
SOAT2	8435	broad.mit.edu	37	12	53512693	53512693	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:53512693A>T	ENST00000301466.3	+	9	943	c.883A>T	c.(883-885)Aat>Tat	p.N295Y		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	295					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGTCAGGTGGAATTATGTGGC	0.547000													29	51					0	0	0.005524	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565342	48565342	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:48565342G>A	ENST00000354276.3	-	14	1497	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	PLA2G4C_ENST00000599111.1_Silent_p.I400I|PLA2G4C_ENST00000413144.2_Silent_p.I390I|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599921.1_Silent_p.I390I|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000596552.1_RNA|CTD-2265M8.2_ENST00000601950.1_RNA	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	390	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGGAGTGTTGATGGCTAAAC	0.582000													26	40					0	0	0.006320	0	0
USP7	7874	broad.mit.edu	37	16	9012979	9012979	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:9012979T>A	ENST00000344836.4	-	6	827	c.629A>T	c.(628-630)cAc>cTc	p.H210L	USP7_ENST00000381886.4_Missense_Mutation_p.H194L|USP7_ENST00000535863.1_Missense_Mutation_p.H111L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	210					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTAGCCTGTGTGCTTCTTTGA	0.463000													42	60					0	0	0.013114	0	0
PKHD1	5314	broad.mit.edu	37	6	51890262	51890262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:51890262C>T	ENST00000371117.3	-	32	4621	c.4346G>A	c.(4345-4347)gGt>gAt	p.G1449D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1449D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1449	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGGGGTCACCCTCCAGGCT	0.522000													28	55					0	0	0.007291	0	0
PLEC	5339	broad.mit.edu	37	8	144995304	144995304	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144995304G>A	ENST00000322810.4	-	32	9265	c.9096C>T	c.(9094-9096)gtC>gtT	p.V3032V	PLEC_ENST00000398774.2_Silent_p.V2863V|PLEC_ENST00000354589.3_Silent_p.V2895V|PLEC_ENST00000436759.2_Silent_p.V2922V|PLEC_ENST00000357649.2_Silent_p.V2899V|PLEC_ENST00000354958.2_Silent_p.V2873V|PLEC_ENST00000356346.3_Silent_p.V2881V|PLEC_ENST00000345136.3_Silent_p.V2895V|PLEC_ENST00000527096.1_Silent_p.V2918V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3032	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTCAGTGTAGACCAGCTCCC	0.627000													31	50					0	0	0.009535	0	0
OR5M8	219484	broad.mit.edu	37	11	56258383	56258383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:56258383C>T	ENST00000327216.2	-	1	488	c.464G>A	c.(463-465)gGc>gAc	p.G155D		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTCCATCAGGCCAGTGAGCGC	0.512000													31	38					0	0	0.007291	0	0
IL31RA	133396	broad.mit.edu	37	5	55185847	55185847	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:55185847A>G	ENST00000396834.1	+	8	1095	c.599A>G	c.(598-600)aAc>aGc	p.N200S	IL31RA_ENST00000359040.5_Missense_Mutation_p.N219S|IL31RA_ENST00000297015.3_Missense_Mutation_p.N77S|IL31RA_ENST00000396836.2_Missense_Mutation_p.N219S|IL31RA_ENST00000354961.4_Missense_Mutation_p.N200S|IL31RA_ENST00000490985.1_Missense_Mutation_p.N77S|IL31RA_ENST00000447346.2_Missense_Mutation_p.N219S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	187	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAAACGTACAACCTCACGGGG	0.453000													16	20					0	0	0.004990	0	0
ALB	213	broad.mit.edu	37	4	74274439	74274439	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:74274439C>T	ENST00000295897.4	+	4	488	c.399C>T	c.(397-399)aaC>aaT	p.N133N	ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Silent_p.N133N	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	133	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGATGACAACCCAAACCTCC	0.418000													14	18					0	0	0.004990	0	0
MKKS	8195	broad.mit.edu	37	20	10393632	10393632	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:10393632C>T	ENST00000347364.2	-	3	1293	c.531G>A	c.(529-531)ttG>ttA	p.L177L		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	177					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CTCTCAGGATCAAAGCACTGA	0.383000													22	35					0	0	0.002780	0	0
TPP2	7174	broad.mit.edu	37	13	103266516	103266516	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:103266516C>T	ENST00000376052.3	+	3	376	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TPP2_ENST00000376065.4_Silent_p.F120F			P29144	TPP2_HUMAN	tripeptidyl peptidase II	120					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTATGACTTCTATCCTAAGG	0.373000													22	29					0	0	0.006320	0	0
CACNB1	782	broad.mit.edu	37	17	37333757	37333757	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37333757T>C	ENST00000394303.3	-	13	1385	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	CACNB1_ENST00000344140.5_Missense_Mutation_p.Q438R|CACNB1_ENST00000394310.3_Missense_Mutation_p.Q393R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	393					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCCTCCAATTGGTTCTCATC	0.607000													16	23					0	0	0.006122	0	0
PDE6B	5158	broad.mit.edu	37	4	651211	651211	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:651211C>T	ENST00000255622.6	+	10	1372	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	PDE6B_ENST00000496514.1_Silent_p.N443N|PDE6B_ENST00000429163.2_Silent_p.N164N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	443					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGCTGGAGAACCGCAAGGACA	0.597000													14	28					0	0	0.002450	0	0
IKZF2	22807	broad.mit.edu	37	2	213872467	213872467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:213872467G>A	ENST00000457361.1	-	8	1366	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.P326S|IKZF2_ENST00000374327.4_Missense_Mutation_p.P255S|IKZF2_ENST00000451136.2_Missense_Mutation_p.P328S|IKZF2_ENST00000434687.1_Missense_Mutation_p.P400S|IKZF2_ENST00000374319.4_Missense_Mutation_p.P374S|IKZF2_ENST00000342002.2_Missense_Mutation_p.P406S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTATTGCTGGGAGAGGCCTCT	0.507000													54	72					0	0	0.014410	0	0
FFAR3	2865	broad.mit.edu	37	19	35850639	35850639	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35850639T>C	ENST00000327809.4	+	2	1048	c.847T>C	c.(847-849)Ttc>Ctc	p.F283L	FFAR3_ENST00000594310.1_Missense_Mutation_p.F283L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	283						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTCCGGGTTCCAAGCCGA	0.592000													13	64					0	0	0.008871	0	0
CSMD2	114784	broad.mit.edu	37	1	34090703	34090703	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:34090703G>A	ENST00000373381.4	-	34	5624	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L689L|CSMD2_ENST00000373377.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1776	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGCACAGGGAGGCACTCGA	0.657000													25	50					0	0	0.005443	0	0
ZNF709	163051	broad.mit.edu	37	19	12575435	12575435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:12575435G>A	ENST00000397732.3	-	4	1472	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	ZNF709_ENST00000428311.1_Missense_Mutation_p.S434F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TATTCGAACAGAACTGGAACA	0.413000													46	83					0	0	0.014410	0	0
COL6A2	1292	broad.mit.edu	37	21	47545378	47545378	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:47545378G>A	ENST00000300527.4	+	25	1920		c.e25-1		COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACCCCCCCAGACTGTGAGAA	0.617000													22	33					0	0	0.012319	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490615	45490615	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:45490615G>A	ENST00000541297.2	+	8	1395	c.930G>A	c.(928-930)aaG>aaA	p.K310K	CLPTM1_ENST00000546079.1_Silent_p.K222K|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Silent_p.K324K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	324					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGAGCACCAAGTCGCCCTGGA	0.632000													75	124					0	0	0.014410	0	0
RRP12	23223	broad.mit.edu	37	10	99126318	99126318	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:99126318G>A	ENST00000370992.4	-	28	3387	c.3276C>T	c.(3274-3276)agC>agT	p.S1092S	RRP12_ENST00000315563.6_Silent_p.S992S|RRP12_ENST00000414986.1_Silent_p.S1031S|RRP12_ENST00000536831.1_Silent_p.S810S|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1092						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTGCCTCGGCTTCTTTCCT	0.587000													50	70					0	0	0.014410	0	0
MYH8	4626	broad.mit.edu	37	17	10295884	10295884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10295884C>T	ENST00000403437.2	-	38	5637	c.5543G>A	c.(5542-5544)cGa>cAa	p.R1848Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1848					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTACTCGTCGCTCATGTTT	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	78					0	0	0.014410	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500874	149500874	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:149500874T>C	ENST00000261799.4	-	17	2825	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	786	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGGCAGGTCCTCTCAGGG	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								24	44					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179629430G>A	ENST00000589042.1	-	42	10036	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_ENST00000359218.5_Missense_Mutation_p.S3225F|TTN_ENST00000342175.6_Missense_Mutation_p.S3225F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3225F|TTN_ENST00000360870.5_Missense_Mutation_p.S3271F|TTN_ENST00000342992.6_Missense_Mutation_p.S3271F|TTN_ENST00000591111.1_Missense_Mutation_p.S3271F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3000	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTACCAGGAAATTTTGGG	0.527000													51	74					0	0	0.014410	0	0
RORC	6097	broad.mit.edu	37	1	151787077	151787077	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:151787077C>T	ENST00000356728.6	-	5	997	c.843G>A	c.(841-843)cgG>cgA	p.R281R	RORC_ENST00000392697.3_Silent_p.R356R|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Silent_p.R302R	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	302	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCACTTCCTCCCGGGAGAAGA	0.632000													15	31					0	0	0.004007	0	0
USHBP1	83878	broad.mit.edu	37	19	17373661	17373661	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:17373661C>T	ENST00000252597.3	-	4	515	c.342G>A	c.(340-342)ggG>ggA	p.G114G	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.G50G	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	114							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						CATCGGGGGCCCCATTCCCAG	0.662000													40	58					0	0	0.006230	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840535	153840535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:153840535C>T	ENST00000356448.4	+	2	1038	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P252S|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.P252S	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	252					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCAGATCATTCCGAAGAGTCT	0.532000													8	7					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24924146	24924146	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:24924146G>A	ENST00000329468.2	+	1	3606	c.3132G>A	c.(3130-3132)ggG>ggA	p.G1044G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GACAGAGTGGGACACCCAGCA	0.572000													14	27					0	0	0.001855	0	0
FOXN1	8456	broad.mit.edu	37	17	26851638	26851638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:26851638C>T	ENST00000226247.2	+	2	270	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	FOXN1_ENST00000579795.1_Missense_Mutation_p.H81Y	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	81					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGTCCAGGGCCACTGCCCAGC	0.677000													18	23					0	0	0.004990	0	0
CFB	629	broad.mit.edu	37	6	31918410	31918410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31918410G>A	ENST00000456570.1	+	25	3200	c.3145G>A	c.(3145-3147)Gac>Aac	p.D1049N	CFB_ENST00000477310.1_Missense_Mutation_p.D898N|CFB_ENST00000425368.2_Missense_Mutation_p.D547N|CFB_ENST00000556679.1_Missense_Mutation_p.D1049N			P00751	CFAB_HUMAN	complement factor B	547					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGAGAAGCGGGACCTGGAGAT	0.488000													212	38					0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7691242	7691242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7691242G>A	ENST00000572933.1	+	43	8128	c.6668G>A	c.(6667-6669)gGg>gAg	p.G2223E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2223E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2223	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCGCTGCGGGATGGTCTAC	0.527000													24	36					0	0	0.002780	0	0
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:52645101G>A	ENST00000395961.3	-	4	719	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_ENST00000371435.2_Missense_Mutation_p.P185S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P88S|BCAS1_ENST00000371440.3_Missense_Mutation_p.P185S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592000													87	63					0	0	0.014410	0	0
SPEG	10290	broad.mit.edu	37	2	220349257	220349257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:220349257G>A	ENST00000312358.7	+	30	7204	c.7072G>A	c.(7072-7074)Gag>Aag	p.E2358K	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2358	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTCGCGCTCGGAGGAGCGCGG	0.716000													4	5					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152501044	152501044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152501044C>T	ENST00000397345.3	-	56	7784	c.7582G>A	c.(7582-7584)Gat>Aat	p.D2528N	NEB_ENST00000409198.1_Missense_Mutation_p.D2528N|NEB_ENST00000427231.2_Missense_Mutation_p.D2528N|NEB_ENST00000604864.1_Missense_Mutation_p.D2528N|NEB_ENST00000172853.10_Missense_Mutation_p.D2528N|NEB_ENST00000603639.1_Missense_Mutation_p.D2528N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2528					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAGGAAGATCGTAACCTTTT	0.388000													41	44					0	0	0.010771	0	0
NPAP1	23742	broad.mit.edu	37	15	24924035	24924035	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:24924035G>A	ENST00000329468.2	+	1	3495	c.3021G>A	c.(3019-3021)gtG>gtA	p.V1007V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCACAAGTGATTATGGGAC	0.512000													9	22					0	0	0.006214	0	0
ABCC9	10060	broad.mit.edu	37	12	21968756	21968756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:21968756C>T	ENST00000261200.4	-	32	3963	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	ABCC9_ENST00000345162.2_Missense_Mutation_p.E1286K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E1322K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1322	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATTATTTTCATATCTGACA	0.398000													27	43					0	0	0.006320	0	0
DSG4	147409	broad.mit.edu	37	18	28993511	28993511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28993511C>T	ENST00000359747.4	+	15	3162	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.R1026*	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1026					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGACATCTCGACACAGAGT	0.438000													29	53					0	0	0.008361	0	0
SCYL2	55681	broad.mit.edu	37	12	100707241	100707241	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:100707241G>A	ENST00000360820.2	+	7	1331	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	298	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATATACCTGAGGAAGTTCGTG	0.328000													12	31					0	0	0.001855	0	0
MFAP3	4238	broad.mit.edu	37	5	153432802	153432802	+	Silent	SNP	C	C	T	rs142736423		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:153432802C>T	ENST00000436816.1	+	3	837	c.618C>T	c.(616-618)atC>atT	p.I206I	MFAP3_ENST00000439768.2_Silent_p.I60I|MFAP3_ENST00000322602.5_Silent_p.I206I	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	206						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CAAAACGTATCCCCATCATTA	0.448000													25	43					0	0	0.005443	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003339	52003339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52003339C>T	ENST00000291707.3	-	2	698	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.D97N	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	215	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCGTGGGTATCCTCTTGCACT	0.532000													42	64					0	0	0.008740	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:47365968G>A	ENST00000505841.1	-	0	141					NR_002788.2																						GGGGGTGCAGGAAACAGGTGC	0.488000													13	31					0	0	0.006122	0	0
ABCD4	5826	broad.mit.edu	37	14	74759018	74759018	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74759018G>A	ENST00000356924.4	-	11	1233	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	ABCD4_ENST00000298816.7_Silent_p.L260L|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	364						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCTCGCCCAGGATCTCGCAG	0.582000													25	54					0	0	0.004289	0	0
FAT2	2196	broad.mit.edu	37	5	150946913	150946913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:150946913C>T	ENST00000261800.5	-	1	1592	c.1580G>A	c.(1579-1581)aGa>aAa	p.R527K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	527	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R527I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTATAAATTCTTTTCATGAG	0.463000													38	48					0	0	0.009718	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353731	45353731	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:45353731G>T	ENST00000359271.2	+	2	306	c.56G>T	c.(55-57)gGc>gTc	p.G19V		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	19						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGCTGGGTGGCCTGACCTTT	0.527000													49	53					9.86064e-34	1.10561e-33	0.014410	1	0
KIAA0391	9692	broad.mit.edu	37	14	35593368	35593368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:35593368C>T	ENST00000557565.1	+	2	1298	c.917C>T	c.(916-918)tCa>tTa	p.S306L	KIAA0391_ENST00000250377.7_Missense_Mutation_p.S211L|KIAA0391_ENST00000534898.4_Missense_Mutation_p.S306L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.S306L|KIAA0391_ENST00000604948.1_Missense_Mutation_p.S211L|KIAA0391_ENST00000321130.10_Missense_Mutation_p.S306L			O15091	MRRP3_HUMAN	KIAA0391	306					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GATATTCTTTCATATCTAAGA	0.284000													14	23					0	0	0.004007	0	0
LAMA2	3908	broad.mit.edu	37	6	129371128	129371128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:129371128G>A	ENST00000421865.2	+	2	227	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	60	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACATGTGGAGAAAAAGGACC	0.453000													20	7					0	0	0.008871	0	0
RANBP17	64901	broad.mit.edu	37	5	170725792	170725792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:170725792G>A	ENST00000523189.1	+	28	3361	c.3197G>A	c.(3196-3198)aGa>aAa	p.R1066K	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1066					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGTATTCAGAAGAGATGTG	0.502000			T	TRD@	ALL								19	23					0	0	0.003954	0	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671816	+	Silent	SNP	G	G	A	rs150383257		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:131671816G>A	ENST00000368648.3	-	8	753	c.681C>T	c.(679-681)gcC>gcT	p.A227A	EBF3_ENST00000355311.5_Silent_p.A227A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGT	0.522000													20	27					0	0	0.007413	0	0
USP6	9098	broad.mit.edu	37	17	5076225	5076225	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:5076225G>A	ENST00000574788.1	+	38	6403	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.T1074T|USP6_ENST00000250066.6_Silent_p.T1391T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1391					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGCAGTACGGATGAAGACT	0.468000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								29	43					0	0	0.006320	0	0
OTOL1	131149	broad.mit.edu	37	3	161221358	161221358	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:161221358T>C	ENST00000327928.4	+	4	1062	c.1062T>C	c.(1060-1062)ccT>ccC	p.P354P		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	354	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGCCATTTCCTCCTCCTAACA	0.493000													15	15					0	0	0.006122	0	0
TRAV22	28661	broad.mit.edu	37	14	22539349	22539349	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:22539349C>T	ENST00000390450.3	+	0	342																											TTTTACATTCCCTCAGGGACA	0.478000													22	24					0	0	0.002780	0	0
RB1	5925	broad.mit.edu	37	13	48953760	48953760	+	Nonsense_Mutation	SNP	C	C	T	rs121913302		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:48953760C>T	ENST00000267163.4	+	14	1501	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	455	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R455*(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGTATTACCGAGTAATGGA	0.358000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	6					0	0	0.001984	0	0
TRAT1	50852	broad.mit.edu	37	3	108549601	108549601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108549601C>T	ENST00000295756.6	+	2	322	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	31					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S31F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCAATATTTCCCACTATGTG	0.408000													47	64					0	0	0.014410	0	0
OR2G2	81470	broad.mit.edu	37	1	247752256	247752256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247752256G>A	ENST00000320065.1	+	1	595	c.595G>A	c.(595-597)Gag>Aag	p.E199K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACGTTTAACGAGGCTGAGCT	0.522000													80	83					0	0	0.014410	0	0
FSTL1	11167	broad.mit.edu	37	3	120121692	120121692	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:120121692G>A	ENST00000295633.3	-	9	1124	c.768C>T	c.(766-768)gcC>gcT	p.A256A	FSTL1_ENST00000424703.2_Silent_p.A221A	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	256	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AATTTCCACAGGCACAGACAC	0.512000													32	62					0	0	0.003271	0	0
ARSK	153642	broad.mit.edu	37	5	94918713	94918713	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:94918713C>T	ENST00000380009.4	+	4	715	c.510C>T	c.(508-510)gtC>gtT	p.V170V		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	170						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGACTAAAGTCAGAGTGATGG	0.413000													29	47					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179616204	179616204	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179616204G>A	ENST00000360870.5	-	46	11145	c.10923C>T	c.(10921-10923)ccC>ccT	p.P3641P	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9486	Ig-like 22.						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)			TTTTGTTAAAGGGAGAGCCAG	0.373000													42	50					0	0	0.010771	0	0
EXD2	55218	broad.mit.edu	37	14	69695678	69695678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:69695678C>T	ENST00000409014.1	+	5	761	c.104C>T	c.(103-105)aCc>aTc	p.T35I	EXD2_ENST00000409949.1_Missense_Mutation_p.T35I|EXD2_ENST00000312994.5_Missense_Mutation_p.T160I|EXD2_ENST00000409242.1_Missense_Mutation_p.T35I|EXD2_ENST00000409675.1_Missense_Mutation_p.T35I|EXD2_ENST00000409018.3_Missense_Mutation_p.T160I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.T35I	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	35	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GCAGATGGCACCATTTTGAAA	0.517000													31	50					0	0	0.009535	0	0
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	C	T	rs139951414	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:141459360C>T	ENST00000389484.3	-	40	7328	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2119					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)		TCATGGTTATCGTTTCTGTGG	0.413000										TSP Lung(27;0.18)			29	39					0	0	0.009535	0	0
ZNF107	51427	broad.mit.edu	37	7	64167242	64167242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:64167242C>T	ENST00000395391.1	+	4	1935	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ZNF107_ENST00000423627.1_Missense_Mutation_p.P187L|ZNF107_ENST00000344930.3_Missense_Mutation_p.P187L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAGAAACCCAACAAATGT	0.368000													21	39					0	0	0.010504	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876350	74876350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74876350G>A	ENST00000331628.3	-	2	345	c.98C>T	c.(97-99)tCc>tTc	p.S33F	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.S33F	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	33					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						TTCCTGGCAGGACCAGCTGGG	0.662000													22	39					0	0	0.003954	0	0
LPXN	9404	broad.mit.edu	37	11	58295604	58295604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:58295604G>A	ENST00000528954.1	-	8	937	c.818C>T	c.(817-819)cCc>cTc	p.P273L	LPXN_ENST00000528489.1_Missense_Mutation_p.P248L|LPXN_ENST00000395074.2_Missense_Mutation_p.P268L	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	268	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACCACACTTGGGTGAGAACAT	0.473000													46	73					0	0	0.014410	0	0
MBD2	8932	broad.mit.edu	37	18	51729293	51729293	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:51729293G>A	ENST00000583046.1	-	3	939	c.882C>T	c.(880-882)tcC>tcT	p.S294S	MBD2_ENST00000256429.3_Intron|MBD2_ENST00000398398.2_3'UTR	NM_015832.4	NP_056647.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	0					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ggttctgcctggagtatgcag	0.502000													52	89					0	0	0.014410	0	0
FTSJ3	117246	broad.mit.edu	37	17	61898924	61898924	+	Missense_Mutation	SNP	C	C	T	rs142875570		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61898924C>T	ENST00000427159.2	-	16	2321	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	559					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGTCCCTTCCGCCGGTTCTC	0.567000													28	63					0	0	0.005443	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902869	4902869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:4902869C>T	ENST00000381781.2	-	1	10	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	4					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ACATTCCTCTCTGTCCCCCAT	0.547000													28	35					0	0	0.009535	0	0
OR2M4	26245	broad.mit.edu	37	1	248402327	248402327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248402327G>A	ENST00000306687.1	+	1	97	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGGTCCTGGGCATCTTCTC	0.478000													50	177					0	0	0.014410	0	0
SIDT1	54847	broad.mit.edu	37	3	113285282	113285282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:113285282G>A	ENST00000264852.4	+	2	964	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	SIDT1_ENST00000393830.3_Missense_Mutation_p.V80M	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	80						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGCCGTGAGGGTGTATGTGAA	0.512000													28	49					0	0	0.010818	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598488	48598488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48598488G>A	ENST00000323776.5	+	8	1225	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D318N	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	318					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCCCAGAGGGACGCTTCATA	0.567000													10	10					0	0	0.010729	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936821	74936821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74936821C>T	ENST00000569840.2	+	15	2313	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	MGAT5B_ENST00000301618.4_Missense_Mutation_p.S578F|MGAT5B_ENST00000428789.2_Missense_Mutation_p.S589F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	580						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGTGTTCTCCCAGCATCCC	0.542000													102	55					0	0	0.014410	0	0
DYSF	8291	broad.mit.edu	37	2	71908217	71908217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:71908217G>A	ENST00000258104.3	+	53	6310	c.6033G>A	c.(6031-6033)atG>atA	p.M2011I	DYSF_ENST00000429174.2_Missense_Mutation_p.M2032I|DYSF_ENST00000413539.2_Missense_Mutation_p.M2042I|DYSF_ENST00000410020.3_Missense_Mutation_p.M2050I|DYSF_ENST00000410041.1_Missense_Mutation_p.M2029I|DYSF_ENST00000409744.1_Missense_Mutation_p.M2019I|DYSF_ENST00000409762.1_Missense_Mutation_p.M2028I|DYSF_ENST00000409651.1_Missense_Mutation_p.M2043I|DYSF_ENST00000409582.3_Missense_Mutation_p.M2049I|DYSF_ENST00000409366.1_Missense_Mutation_p.M2033I|DYSF_ENST00000394120.2_Missense_Mutation_p.M2012I|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2011						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCCAACATGAACCCTAAGC	0.607000													14	36					0	0	0.003163	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866671	10866671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:10866671G>A	ENST00000381661.3	+	3	282	c.173G>A	c.(172-174)gGg>gAg	p.G58E	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.G58E	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	58					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GATGAGTTGGGGAAACTCGAC	0.448000													16	29					0	0	0.006122	0	0
EBF3	253738	broad.mit.edu	37	10	131671817	131671817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:131671817G>A	ENST00000368648.3	-	8	752	c.680C>T	c.(679-681)gCc>gTc	p.A227V	EBF3_ENST00000355311.5_Missense_Mutation_p.A227V	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCTGACACGGCCAGCACGTG	0.522000													20	27					0	0	0.007413	0	0
HLA-A	3105	broad.mit.edu	37	6	29912168	29912168	+	Silent	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:29912168A>C	ENST00000396634.1	+	6	1230	c.889A>C	c.(889-891)Aga>Cga	p.R297R	HLA-A_ENST00000376802.2_Silent_p.R297R|HLA-A_ENST00000376809.5_Silent_p.R297R|HLA-A_ENST00000376806.5_Silent_p.R297R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	297	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTCACCCTGAGATGGGGTAA	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			34	56					0	0	0.004289	0	0
ACTN1	87	broad.mit.edu	37	14	69371391	69371391	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:69371391G>A	ENST00000193403.6	-	7	1040	c.657C>T	c.(655-657)ccC>ccT	p.P219P	ACTN1_ENST00000394419.4_Silent_p.P219P|ACTN1_ENST00000538545.2_Silent_p.P219P|ACTN1_ENST00000438964.2_Silent_p.P219P|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Silent_p.P154P	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	219	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGCATCTTGGGGATGTCCA	0.532000													20	35					0	0	0.003330	0	0
ZNF100	163227	broad.mit.edu	37	19	21909539	21909539	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:21909539G>A	ENST00000358296.6	-	5	1773	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	ZNF100_ENST00000305570.6_Silent_p.S461S	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGCTTAGGGACTGGTTAA	0.358000													26	53					0	0	0.006320	0	0
AOX1	316	broad.mit.edu	37	2	201462197	201462197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:201462197G>A	ENST00000374700.2	+	4	519	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	93					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD 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)	GAAGGCATAGGAAGCACCCAC	0.478000													19	34					0	0	0.004656	0	0
AKAP11	11215	broad.mit.edu	37	13	42875638	42875638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:42875638C>T	ENST00000025301.2	+	8	2931	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	919					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCTCCATTTTCCCACTGTGAT	0.358000													18	20					0	0	0.007413	0	0
RASSF9	9182	broad.mit.edu	37	12	86199418	86199418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:86199418G>A	ENST00000361228.3	-	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	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						CGCCACAAAGGAACTGGAAGA	0.438000													70	106					0	0	0.014410	0	0
SIPA1	6494	broad.mit.edu	37	11	65408787	65408787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:65408787C>T	ENST00000394224.3	+	2	691	c.395C>T	c.(394-396)tCt>tTt	p.S132F	SIPA1_ENST00000534313.1_Missense_Mutation_p.S132F|SIPA1_ENST00000394227.3_Missense_Mutation_p.S132F|SIPA1_ENST00000527525.1_Missense_Mutation_p.S132F	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	132					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTCCGAGGTCTCAGGGGATG	0.627000													25	39					0	0	0.003954	0	0
MEP1A	4224	broad.mit.edu	37	6	46801057	46801057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:46801057G>A	ENST00000230588.4	+	11	1400	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	464	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATTCGGAGGGATATGGTTTT	0.493000													36	66					0	0	0.003271	0	0
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	C	T	rs121913305		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:49027168C>T	ENST00000267163.4	+	18	1873	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	579	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCAAAGGACCGAGAAGGACC	0.338000	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	38					0	0	0.006122	0	0
TMEM119	338773	broad.mit.edu	37	12	108985776	108985776	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108985776G>A	ENST00000392806.3	-	2	552	c.384C>T	c.(382-384)taC>taT	p.Y128Y		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	128						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGACGATGGGTAATAGGCCG	0.637000													11	12					0	0	0.008291	0	0
RREB1	6239	broad.mit.edu	37	6	7229427	7229427	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:7229427C>T	ENST00000379938.2	+	10	1632	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	RREB1_ENST00000379933.3_Silent_p.A365A|RREB1_ENST00000349384.6_Silent_p.A365A|RREB1_ENST00000334984.6_Silent_p.A365A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	365					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCTTCCTGGCCTTGCTTGGCC	0.642000													21	6					0	0	0.002780	0	0
GANC	2595	broad.mit.edu	37	15	42632908	42632908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42632908C>T	ENST00000318010.8	+	18	2348	c.2108C>T	c.(2107-2109)cCt>cTt	p.P703L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	703					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.P703H(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTAGAGTTCCCTGATGAACTA	0.323000													19	42					0	0	0.012319	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768691	51768691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51768691G>A	ENST00000316401.7	+	3	473	c.92G>A	c.(91-93)gGg>gAg	p.G31E	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TCCTTCCATGGGATTCCCACA	0.587000													28	41					0	0	0.007291	0	0
C3	718	broad.mit.edu	37	19	6709731	6709731	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:6709731G>A	ENST00000245907.6	-	14	1901	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	603			F -> V (in AHUS5).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TATTCAGCACGAACACGCCCT	0.617000													67	109					0	0	0.014410	0	0
SCN7A	6332	broad.mit.edu	37	2	167263157	167263157	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:167263157C>T	ENST00000409855.1	-	25	4109		c.e25-1			NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGACATAGTCCTGGGGGTGGG	0.388000													33	43					0	0	0.003755	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:74507480G>A	ENST00000354431.4	-	7	1326	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P379S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	379										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000													23	37					0	0	0.004656	0	0
SNAP91	9892	broad.mit.edu	37	6	84303409	84303409	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:84303409A>G	ENST00000428679.2	-	18	2077	c.1484T>C	c.(1483-1485)cTc>cCc	p.L495P	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.L495P|SNAP91_ENST00000521485.1_Missense_Mutation_p.L495P|SNAP91_ENST00000521743.1_Missense_Mutation_p.L495P|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000195649.6_Missense_Mutation_p.L495P|SNAP91_ENST00000439399.2_Missense_Mutation_p.L495P|SNAP91_ENST00000520302.1_Missense_Mutation_p.L493P			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	495	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CATTGCAAAGAGGTCCAGCTC	0.547000													19	5					0	0	0.007413	0	0
BRCA2	675	broad.mit.edu	37	13	32918762	32918762	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32918762C>T	ENST00000544455.1	+	12	7136	c.6909C>T	c.(6907-6909)tcC>tcT	p.S2303S	BRCA2_ENST00000380152.3_Silent_p.S2303S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2303					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAAAATCCTTAAAGGCTT	0.289000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	26					0	0	0.004990	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860826	30860826	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30860826C>T	ENST00000403066.1	-	9	751	c.468G>A	c.(466-468)agG>agA	p.R156R	SEC14L3_ENST00000402286.1_Silent_p.R138R|SEC14L3_ENST00000415957.2_Silent_p.R156R|SEC14L3_ENST00000401751.1_Silent_p.R156R|SEC14L3_ENST00000215812.4_Silent_p.R215R|SEC14L3_ENST00000539629.1_Silent_p.R156R|SEC14L3_ENST00000540910.1_Silent_p.R138R			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	215	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAATAATTTTCCTGCGAGTGT	0.458000													64	76					0	0	0.014410	0	0
LCT	3938	broad.mit.edu	37	2	136561681	136561681	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:136561681C>G	ENST00000264162.2	-	11	4492	c.4482G>C	c.(4480-4482)tgG>tgC	p.W1494C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1494	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGTAGGTCCCAGTGGTAAA	0.532000													18	30					0	0	0.006122	0	0
FEN1	2237	broad.mit.edu	37	11	61563912	61563912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:61563912C>T	ENST00000305885.2	+	2	1492	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	360					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GAGCCAGAACCCAAGGGATCC	0.522000								Editing and processing nucleases					5	13					0	0	0.000602	0	0
PAPPA	5069	broad.mit.edu	37	9	118969759	118969759	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118969759G>A	ENST00000328252.3	+	3	1872	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	501	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTAATGAGCTGAAGAACATTC	0.413000													25	30					0	0	0.005443	0	0
TACR3	6870	broad.mit.edu	37	4	104579504	104579504	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:104579504A>T	ENST00000304883.2	-	2	745	c.605T>A	c.(604-606)aTt>aAt	p.I202N		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	202						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)		TCCAATGACAATCTTGGTTGC	0.378000													29	20					0	0	0.007291	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487503	67487503	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67487503G>A	ENST00000290949.3	-	2	396	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ATP6V0D1_ENST00000540149.1_Silent_p.F82F|ATP6V0D1_ENST00000602876.1_Silent_p.F5F	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	82					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCATGTGGCGGAACTCCACCA	0.532000													28	34					0	0	0.007291	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649942	232649942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:232649942C>T	ENST00000366630.1	-	2	1502	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G382R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	382					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCTTGCTCCCTAAAGGGGAC	0.507000													39	168					0	0	0.006230	0	0
SLC17A6	57084	broad.mit.edu	37	11	22384297	22384297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:22384297G>A	ENST00000263160.3	+	6	1111	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	225					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G225K(1)|p.G225E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCCTATGCCGGAGCTGTGATT	0.398000													25	43					0	0	0.008361	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922713	43922713	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:43922713C>T	ENST00000329196.5	+	1	458	c.441C>T	c.(439-441)acC>acT	p.T147T	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	147						integral to membrane	aspartic-type endopeptidase activity										CAGACCTCACCATCCCTGTGG	0.657000													16	23					0	0	0.003163	0	0
GAS7	8522	broad.mit.edu	37	17	9820659	9820659	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:9820659C>T	ENST00000396115.1	-	14	1448		c.e14-1		GAS7_ENST00000579158.1_Splice_Site|GAS7_ENST00000540214.1_Splice_Site|GAS7_ENST00000323816.4_Splice_Site|GAS7_ENST00000437099.2_Splice_Site|GAS7_ENST00000432992.2_Splice_Site|GAS7_ENST00000580865.1_Splice_Site|GAS7_ENST00000542249.1_Splice_Site|GAS7_ENST00000585266.1_Splice_Site|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7						cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTCGACTGTCTGCAAGAGAC	0.577000			T	MLL	AML*								19	34					0	0	0.007413	0	0
C2orf83	56918	broad.mit.edu	37	2	228476360	228476360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:228476360G>A	ENST00000264387.4	-	3	289	c.203C>T	c.(202-204)tCt>tTt	p.S68F	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	68						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TAGTTTCTCAGATGGACTTAA	0.423000													24	26					0	0	0.005443	0	0
PCID2	55795	broad.mit.edu	37	13	113852557	113852557	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:113852557A>C	ENST00000375457.2	-	3	738	c.142T>G	c.(142-144)Tgt>Ggt	p.C48G	PCID2_ENST00000337344.4_Missense_Mutation_p.C50G|PCID2_ENST00000246505.5_Missense_Mutation_p.C50G|PCID2_ENST00000375477.1_Missense_Mutation_p.C50G|PCID2_ENST00000351317.3_Missense_Mutation_p.C50G|PCID2_ENST00000375479.2_Missense_Mutation_p.C50G|PCID2_ENST00000375459.1_Missense_Mutation_p.C48G	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	50					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			ACTTGTTGACACTTCTCCTCT	0.358000													51	67					0	0	0.014410	0	0
COL27A1	85301	broad.mit.edu	37	9	117027228	117027228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:117027228C>T	ENST00000356083.3	+	30	3665	c.3274C>T	c.(3274-3276)Ccg>Tcg	p.P1092S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1092	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGGGCAGACCGGGCCGGCC	0.647000													30	42					0	0	0.003271	0	0
FAM58A	92002	broad.mit.edu	37	X	152860031	152860031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:152860031G>A	ENST00000406277.2	-	5	499	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	135					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAGACCTGGAAGCGCAGA	0.542000													40	5					0	0	0.005524	0	0
ABCC3	8714	broad.mit.edu	37	17	48733283	48733283	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48733283T>G	ENST00000285238.8	+	2	216	c.136T>G	c.(136-138)Tgg>Ggg	p.W46G	ABCC3_ENST00000427699.1_Missense_Mutation_p.W46G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	46					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATCTACCTGTGGGTCGCCCT	0.602000													36	72					0	0	0.005524	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917062	51917062	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51917062C>T	ENST00000353836.5	-	9	1661	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	SIGLEC10_ENST00000525998.1_Silent_p.P390P|SIGLEC10_ENST00000432469.2_Silent_p.P397P|SIGLEC10_ENST00000439889.2_Silent_p.P517P|SIGLEC10_ENST00000356298.5_Silent_p.P575P|SIGLEC10_ENST00000441969.3_Silent_p.P422P|SIGLEC10_ENST00000442846.3_Silent_p.P332P|SIGLEC10_ENST00000436984.2_Silent_p.P432P|SIGLEC10_ENST00000339313.5_Silent_p.P575P	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	575					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P575P(1)|p.P517P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCGTCTCTTCGGTAGAATCT	0.567000													29	49					0	0	0.007291	0	0
LIG3	3980	broad.mit.edu	37	17	33326328	33326328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:33326328G>A	ENST00000378526.4	+	15	2249	c.2116G>A	c.(2116-2118)Ggc>Agc	p.G706S	LIG3_ENST00000262327.5_Missense_Mutation_p.G706S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	706					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTCCCAGGCGGCATGATGTC	0.612000								Other BER factors					17	33					0	0	0.007413	0	0
GLI2	2736	broad.mit.edu	37	2	121745787	121745787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:121745787C>T	ENST00000452319.1	+	14	2357	c.2297C>T	c.(2296-2298)tCc>tTc	p.S766F	GLI2_ENST00000314490.11_Missense_Mutation_p.S438F|GLI2_ENST00000361492.4_Missense_Mutation_p.S766F			P10070	GLI2_HUMAN	GLI family zinc finger 2	766					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCGCAGGCTCCATCCTGGAA	0.682000													17	25					0	0	0.007413	0	0
TEP1	7011	broad.mit.edu	37	14	20851703	20851703	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20851703A>G	ENST00000262715.5	-	26	3851	c.3811T>C	c.(3811-3813)Tta>Cta	p.L1271L	TEP1_ENST00000556935.1_Silent_p.L1163L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1271	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGTCCACTAACCTATCAGCC	0.602000													19	23					0	0	0.007413	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059584	11059584	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:11059584C>T	ENST00000287766.4	+	4	715	c.294C>T	c.(292-294)ttC>ttT	p.F98F	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	98					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCCCACTCTTCCTGCTGGAGT	0.567000													47	79					0	0	0.014410	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238631	179238631	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179238631C>T	ENST00000190611.4	+	15	1786	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	OSBPL6_ENST00000315022.2_Silent_p.I474I|OSBPL6_ENST00000409045.3_Silent_p.I439I|OSBPL6_ENST00000392505.2_Silent_p.I495I|OSBPL6_ENST00000359685.3_Silent_p.I434I|OSBPL6_ENST00000409631.1_Silent_p.I434I|OSBPL6_ENST00000357080.4_Silent_p.I403I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	470					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTGAGCAAATCCATGTCAGTC	0.453000													16	23					0	0	0.006122	0	0
ARL4A	10124	broad.mit.edu	37	7	12728093	12728093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:12728093C>T	ENST00000396663.1	+	2	696	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	ARL4A_ENST00000356797.3_Missense_Mutation_p.H72Y|ARL4A_ENST00000404894.1_Missense_Mutation_p.H72Y|ARL4A_ENST00000396662.1_Missense_Mutation_p.H72Y|ARL4A_ENST00000396664.2_Missense_Mutation_p.H72Y	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	72					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCACTTTTCACTTCTGGGA	0.398000													15	38					0	0	0.006122	0	0
SND1	27044	broad.mit.edu	37	7	127344916	127344916	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:127344916C>T	ENST00000354725.3	+	8	1058	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	288	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGAGCTCCTCCTGAAGGAAG	0.502000													17	20					0	0	0.007413	0	0
DUSP15	128853	broad.mit.edu	37	20	30436348	30436348	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:30436348A>G	ENST00000278979.3	-	10	823	c.747T>C	c.(745-747)ccT>ccC	p.P249P				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	249						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGAGCTCCCAGGCCGAAGCT	0.637000													4	8					0	0	0.000602	0	0
LILRP2	79166	broad.mit.edu	37	19	55221349	55221349	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55221349G>A	ENST00000413439.1	+	0	1129																											GCGTGTCTAGGAAGCCCTCCC	0.612000													13	19					0	0	0.001855	0	0
RB1	5925	broad.mit.edu	37	13	48953759	48953759	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:48953759C>T	ENST00000267163.4	+	14	1500	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	454	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.Y454*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTGTATTACCGAGTAATGG	0.353000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	6					0	0	0.001984	0	0
ANKMY1	51281	broad.mit.edu	37	2	241448827	241448827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:241448827G>A	ENST00000391987.1	-	12	2431	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	ANKMY1_ENST00000406958.1_Missense_Mutation_p.P450S|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P689S|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P778S|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P459S			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	689							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGCAGGTTAGGATTTGCTCCG	0.577000													3	11					0	0	0.009096	0	0
DVL1	1855	broad.mit.edu	37	1	1271705	1271705	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:1271705C>T	ENST00000378888.5	-	15	2189	c.1905G>A	c.(1903-1905)tcG>tcA	p.S635S	DVL1_ENST00000378891.5_Silent_p.S610S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	635					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCGGTAGCCGAGGCCTGAC	0.746000													9	12					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179454889	179454889	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179454889C>T	ENST00000589042.1	-	304	61787	c.61563G>A	c.(61561-61563)aaG>aaA	p.K20521K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Silent_p.K11581K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.K11648K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K11456K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K17953K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K18880K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18880	Fibronectin type-III 49.						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)			GGTCCACCCTCTTTTCTCGGA	0.438000													58	76					0	0	0.014410	0	0
OR2G6	391211	broad.mit.edu	37	1	248684978	248684978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248684978G>A	ENST00000343414.4	+	1	63	c.31G>A	c.(31-33)Gga>Aga	p.G11R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTGAAAAGGGATTTCTTCT	0.418000													33	122					0	0	0.005524	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:21227313C>T	ENST00000233242.1	-	28	12042	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGCGCTTTTCCTTCCCATTC	0.463000													192	306					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147674960	147674960	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:147674960G>A	ENST00000361727.3	+	15	2778	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	754	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGAGGAAGGATGCTGGTT	0.443000										HNSCC(39;0.1)			18	38					0	0	0.012319	0	0
PNMT	5409	broad.mit.edu	37	17	37826577	37826577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37826577C>T	ENST00000269582.2	+	3	1102	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	PNMT_ENST00000394246.1_Missense_Mutation_p.L164F	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	262					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCTGCCCACCTTCAGACAGG	0.632000													10	14					0	0	0.010729	0	0
MYPN	84665	broad.mit.edu	37	10	69926297	69926297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:69926297G>A	ENST00000358913.5	+	10	2335	c.1847G>A	c.(1846-1848)gGt>gAt	p.G616D	MYPN_ENST00000540630.1_Missense_Mutation_p.G616D|MYPN_ENST00000354393.2_Missense_Mutation_p.G341D	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	616						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCCGAGGCTGGTGTGGTGACC	0.567000													26	36					0	0	0.006320	0	0
TTF1	7270	broad.mit.edu	37	9	135275598	135275598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:135275598G>A	ENST00000334270.2	-	3	1454	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	472					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTATTTCGGAATCTTCAGC	0.413000													30	47					0	0	0.008361	0	0
CSTF3	1479	broad.mit.edu	37	11	33123758	33123758	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:33123758A>T	ENST00000323959.4	-	10	930	c.791T>A	c.(790-792)cTt>cAt	p.L264H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	264					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCTGTACGAAGAGGGTTGCT	0.438000													27	38					0	0	0.010818	0	0
CBL	867	broad.mit.edu	37	11	119103291	119103291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:119103291G>A	ENST00000264033.4	+	2	705	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	110	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGACACTTGGAGAAAATGAG	0.398000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				20	13					0	0	0.010504	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796672	21796672	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21796672G>A	ENST00000206660.6	+	18	2985	c.2985G>A	c.(2983-2985)aaG>aaA	p.K995K	RPGRIP1_ENST00000400017.2_Silent_p.K995K|RPGRIP1_ENST00000557771.1_Silent_p.K957K|RPGRIP1_ENST00000382933.4_Silent_p.K321K|RPGRIP1_ENST00000307974.4_Silent_p.K354K|RPGRIP1_ENST00000556336.1_Silent_p.K652K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	995	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAAGGAGAAGGAGCACCAGG	0.423000													26	39					0	0	0.005443	0	0
ASXL1	171023	broad.mit.edu	37	20	31024037	31024037	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:31024037G>A	ENST00000375687.4	+	13	3946	c.3522G>A	c.(3520-3522)aaG>aaA	p.K1174K	ASXL1_ENST00000306058.5_Silent_p.K1169K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1174					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCTTTGAAGGAGCCTCTTC	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								24	32					0	0	0.004656	0	0
RAF1	5894	broad.mit.edu	37	3	12660032	12660032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:12660032C>T	ENST00000542177.1	-	2	519	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	RAF1_ENST00000251849.4_Silent_p.P63P|RAF1_ENST00000442415.2_Silent_p.P63P			P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	0					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TTTGCTTGTTCGGCAAGAAAA	0.418000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				31	61					0	0	0.005524	0	0
DMXL1	1657	broad.mit.edu	37	5	118454697	118454697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:118454697G>A	ENST00000311085.8	+	8	1011	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E311K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	311										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATGCTTTAGAAGTGAGTGT	0.323000													7	14					0	0	0.003080	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387795	46387795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:46387795G>A	ENST00000302165.3	-	1	1581	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGTCTCAGCGGAGTACGGGCC	0.716000													15	22					0	0	0.008871	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677206	7677206	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7677206G>A	ENST00000446248.2	+	13	2009	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	CAMSAP3_ENST00000160298.4_Silent_p.E609E	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	609					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCTGGAGGAGAAACGCAGAG	0.687000													3	16					0	0	0.009096	0	0
ICOSLG	23308	broad.mit.edu	37	21	45655426	45655426	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:45655426G>A	ENST00000407780.3	-	4	553	c.426C>T	c.(424-426)gtC>gtT	p.V142V	ICOSLG_ENST00000344330.4_Silent_p.V142V|ICOSLG_ENST00000400377.3_Silent_p.V25V|ICOSLG_ENST00000400379.3_Silent_p.V142V			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	142	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGCGCTGACGACGGGCACGC	0.587000													34	59					0	0	0.005524	0	0
NDC1	55706	broad.mit.edu	37	1	54258908	54258908	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:54258908G>A	ENST00000371429.3	-	14	2227	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	NDC1_ENST00000540001.1_Intron|NDC1_ENST00000537333.1_Silent_p.F208F|NDC1_ENST00000234725.8_Silent_p.F428F	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTACCTTACTGAAAAAATACA	0.303000													45	53					0	0	0.014410	0	0
SSX9	280660	broad.mit.edu	37	X	48159161	48159161	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:48159161C>T	ENST00000376909.1	-	6	434	c.372G>A	c.(370-372)aaG>aaA	p.K124K	SSX9_ENST00000407081.2_Silent_p.K124K																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CTGGCACTTCCTTCGAATCAT	0.458000													163	31					0	0	0.014410	0	0
TIE1	7075	broad.mit.edu	37	1	43779533	43779533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:43779533C>T	ENST00000372476.3	+	14	2382	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S413F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	768					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGGTGGGCTCCGTGTCTGCC	0.632000													14	23					0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	38954093	38954093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:38954093C>T	ENST00000355481.4	+	21	2739	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	RYR1_ENST00000360985.3_Missense_Mutation_p.R870W|RYR1_ENST00000359596.3_Missense_Mutation_p.R870W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	870	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	GGAGCGCATTCGGGAGAAGCT	0.642000													14	29					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179433243	179433243	+	Silent	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179433243A>T	ENST00000589042.1	-	326	77840	c.77616T>A	c.(77614-77616)gtT>gtA	p.V25872V	TTN_ENST00000359218.5_Silent_p.V16932V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.V16999V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V16807V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.V23304V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V24231V|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24231	Fibronectin type-III 88.						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)			CAACATTGGCAACTGTGATTC	0.408000													37	42					0	0	0.003271	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767518	143767518	+	Nonsense_Mutation	SNP	G	G	A	rs66906173		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:143767518G>A	ENST00000419275.1	-	1	363	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	111	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATGAAAAACTGGGAACCATTT	0.473000													54	496					0	0	0.014410	0	0
RNF139	11236	broad.mit.edu	37	8	125499402	125499402	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:125499402A>G	ENST00000303545.3	+	2	1884	c.1512A>G	c.(1510-1512)gcA>gcG	p.A504A		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	504					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTACATGCATATTTTAACA	0.348000													25	51					0	0	0.005443	0	0
ROBO1	6091	broad.mit.edu	37	3	79639029	79639029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:79639029C>T	ENST00000464233.1	-	2	146	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	11					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|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGAGTGATATCATGACCAAAA	0.408000													47	65					0	0	0.014410	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013371	149013371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:149013371C>T	ENST00000535454.1	+	4	874	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	MAGEA8_ENST00000542674.1_Missense_Mutation_p.R109W|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R109W	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	109										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCTGTTCCGGGAAGCACT	0.542000													57	12					0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92532383	92532383	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:92532383G>A	ENST00000298047.6	+	9	6221	c.6204G>A	c.(6202-6204)gtG>gtA	p.V2068V	FAT3_ENST00000409404.2_Silent_p.V2068V|FAT3_ENST00000525166.1_Silent_p.V1918V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2068	Cadherin 18.				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)				TGGCCAGAGTGGTGGTCAGGG	0.517000										TCGA Ovarian(4;0.039)			228	86					0	0	0.014410	0	0
ANKRD40	91369	broad.mit.edu	37	17	48778020	48778020	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48778020T>A	ENST00000285243.6	-	2	461	c.192A>T	c.(190-192)ttA>ttT	p.L64F		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	64										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTCCTGATTTTAACAGGTAAG	0.398000													50	49					0	0	0.014410	0	0
TRPM5	29850	broad.mit.edu	37	11	2434128	2434128	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:2434128C>T	ENST00000452833.1	-	15	2225	c.2217G>A	c.(2215-2217)ggG>ggA	p.G739G	TRPM5_ENST00000533060.1_Silent_p.G737G|TRPM5_ENST00000155858.6_Silent_p.G737G|TRPM5_ENST00000528453.1_Silent_p.G737G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	737						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGACCACGTTCCCCAGGAACA	0.662000													159	210					0	0	0.014410	0	0
PNISR	25957	broad.mit.edu	37	6	99851718	99851718	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:99851718G>A	ENST00000369239.5	-	10	1347	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	PNISR_ENST00000438806.1_Silent_p.S381S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	381						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTCCAGTGAGGGAAGCCAGTG	0.423000													14	4					0	0	0.003163	0	0
SNTG2	54221	broad.mit.edu	37	2	1271289	1271289	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:1271289C>T	ENST00000308624.5	+	14	1359	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	SNTG2_ENST00000407292.1_Silent_p.A283A	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	410	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCGAGCTGGCCATGTGGGAGA	0.532000													11	29					0	0	0.001855	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15739113G>A	ENST00000441682.2	+	0	1178							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000													41	65					0	0	0.007835	0	0
RNF125	54941	broad.mit.edu	37	18	29625679	29625679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:29625679C>T	ENST00000217740.3	+	4	980	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	163					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CATCACAGATCGGAACGGAGG	0.368000													31	60					0	0	0.004289	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16505263	16505263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:16505263G>A	ENST00000396652.1	-	3	743	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.L11F			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	11				FYLLPLA -> LSLIPLL (in Ref. 3; AAQ83296).	Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCAAGGGGAAGGAGATAGAAA	0.423000													18	24					0	0	0.006122	0	0
WSCD2	9671	broad.mit.edu	37	12	108589759	108589759	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108589759G>A	ENST00000332082.4	+	3	968	c.150G>A	c.(148-150)gcG>gcA	p.A50A	WSCD2_ENST00000261400.3_Silent_p.A50A|WSCD2_ENST00000547525.1_Silent_p.A50A|WSCD2_ENST00000549903.1_Silent_p.A50A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	50						integral to membrane		p.A50A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCAGGCGAACCCCGCTG	0.607000													54	89					0	0	0.014410	0	0
ZNF71	58491	broad.mit.edu	37	19	57134054	57134054	+	Nonsense_Mutation	SNP	C	C	T	rs145277321	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57134054C>T	ENST00000328070.6	+	3	1633	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	467						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAAGCCCTACCGATGCGGCGA	0.647000													15	41					0	0	0.004007	0	0
ALDH1A3	220	broad.mit.edu	37	15	101427813	101427813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101427813G>A	ENST00000329841.5	+	3	773	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A81T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	81					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TGCACAGGTTGCCTTCCAGAG	0.627000													56	70					0	0	0.014410	0	0
HECTD1	25831	broad.mit.edu	37	14	31578782	31578782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:31578782G>A	ENST00000399332.1	-	36	6789	c.6301C>T	c.(6301-6303)Cga>Tga	p.R2101*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.R2101*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2101	K-box.				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)		GCTTCACGTCGGTTCTGTAAC	0.433000													9	14					0	0	0.004482	0	0
CLIP3	25999	broad.mit.edu	37	19	36517888	36517888	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36517888G>A	ENST00000360535.4	-	4	593	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CLIP3_ENST00000593074.1_Silent_p.L122L|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	122					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACGCATAGTGGAGCAGTGTCA	0.617000													21	22					0	0	0.012319	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194130	160194130	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:160194130G>A	ENST00000392783.2	-	32	6103	c.5608C>T	c.(5608-5610)Cta>Tta	p.L1870L	BAZ2B_ENST00000392782.1_Silent_p.L1834L|BAZ2B_ENST00000355831.2_Silent_p.L1836L|BAZ2B_ENST00000343439.5_Silent_p.L1770L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCTATATCTAGGGGGTTGTCA	0.433000													68	92					0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21134298	21134298	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:21134298C>T	ENST00000377122.4	-	12	1513		c.e12-1		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAAACTTTCTGTTAAATAA	0.323000													16	18					0	0	0.004990	0	0
FOXO1	2308	broad.mit.edu	37	13	41134158	41134158	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:41134158C>T	ENST00000379561.5	-	2	1854	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	490					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGCCCAGAACCCGGCTGTTGG	0.532000													14	27					0	0	0.001855	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984229	223984229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223984229G>A	ENST00000391878.2	-	14	2393	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S671F|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	665					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGGCTATTGGAATAAATGTT	0.453000													148	66					0	0	0.014410	0	0
OR7G2	390882	broad.mit.edu	37	19	9213398	9213398	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9213398G>A	ENST00000305456.2	-	1	584	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	174					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						AGAAGAGCGGGATTTCCAGGT	0.478000													27	31					0	0	0.006320	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956442	96956442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:96956442C>T	ENST00000323853.5	-	19	2610	c.2533G>A	c.(2533-2535)Gga>Aga	p.G845R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	845	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCAGTGCTCCCAGTTCTGTC	0.507000													62	79					0	0	0.014410	0	0
CFH	3075	broad.mit.edu	37	1	196695740	196695740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:196695740C>T	ENST00000367429.4	+	13	2254	c.2014C>T	c.(2014-2016)Caa>Taa	p.Q672*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	672	Sushi 11.				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						TAATAAAATTCAATGTGTTGA	0.299000													13	61					0	0	0.003163	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122283	233122283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:233122283C>T	ENST00000258229.8	-	33	6029	c.5795G>A	c.(5794-5796)aGg>aAg	p.R1932K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R584K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1932						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCTTTCCTCCTGCCTTTAAA	0.582000													5	14					0	0	0.000602	0	0
ADAM28	10863	broad.mit.edu	37	8	24199208	24199208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:24199208C>T	ENST00000265769.4	+	16	1878	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	ADAM28_ENST00000397649.3_Missense_Mutation_p.P337S|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	590	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AACATTTGATCCTGAAGACAC	0.423000													50	65					0	0	0.014410	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015583	129015583	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:129015583A>T	ENST00000274487.4	+	17	2760	c.2615A>T	c.(2614-2616)aAa>aTa	p.K872I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	872	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCTCTGCCAAAGGTCCTACT	0.428000													23	35					0	0	0.014323	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217657	150217657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:150217657G>A	ENST00000313543.4	+	2	752	c.595G>A	c.(595-597)Gct>Act	p.A199T		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	199							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAACGAAGGGGCTTACTTTTC	0.428000													26	53					0	0	0.004656	0	0
MYO15A	51168	broad.mit.edu	37	17	18022448	18022448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:18022448C>T	ENST00000205890.5	+	2	672	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	112	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP 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)					GATCCGCTTCCCAGGCCGCCG	0.612000													8	9					0	0	0.004482	0	0
RAI1	10743	broad.mit.edu	37	17	17698096	17698096	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:17698096C>T	ENST00000353383.1	+	3	2303	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	RAI1_ENST00000261641.6_Silent_p.L612L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	612						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTCCGAGATCCTGGGGCTGCA	0.647000													26	26					0	0	0.003330	0	0
F13B	2165	broad.mit.edu	37	1	197021920	197021920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:197021920C>T	ENST00000367412.1	-	9	1442	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	467	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CACTTCATTTCTATGTTATTT	0.303000													24	134					0	0	0.002780	0	0
IL18R1	8809	broad.mit.edu	37	2	103013227	103013227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:103013227G>A	ENST00000409599.1	+	12	1863	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	IL18R1_ENST00000233957.1_Missense_Mutation_p.D503N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	503	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGGAAGGCCGATAAATCTCT	0.388000													40	58					0	0	0.010771	0	0
CYC1	1537	broad.mit.edu	37	8	145151983	145151983	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:145151983C>T	ENST00000318911.4	+	6	892	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	273					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTGCACCTTCCTGCGCTGGG	0.577000													4	10					0	0	0.001168	0	0
MSH4	4438	broad.mit.edu	37	1	76313948	76313948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:76313948C>T	ENST00000263187.3	+	8	1321	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	406					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTCCAAATTCCAAAGCAAGAC	0.274000								Mismatch excision repair (MMR)					24	34					0	0	0.005443	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368635	20368635	+	RNA	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:20368635T>C	ENST00000593655.1	-	0	199																											CCAGCTTTGGTTGGAAGATCT	0.448000													22	25					0	0	0.002780	0	0
GTSF1L	149699	broad.mit.edu	37	20	42354942	42354942	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:42354942C>T	ENST00000373003.1	-	1	696	c.393G>A	c.(391-393)acG>acA	p.T131T	GTSF1L_ENST00000373005.2_Silent_p.T106T	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	131							metal ion binding	p.T131T(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGACTCTTTCGTGTCATTTT	0.478000													38	42					0	0	0.006999	0	0
PGBD1	84547	broad.mit.edu	37	6	28253470	28253470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28253470C>T	ENST00000405948.2	+	3	959	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PGBD1_ENST00000259883.3_Missense_Mutation_p.P180L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	180					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						CAAGGGAACCCCCAAGAAGTG	0.532000													41	10					0	0	0.014410	0	0
C1orf51	148523	broad.mit.edu	37	1	150258992	150258992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:150258992C>T	ENST00000290363.5	+	5	1233	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	C1orf51_ENST00000369095.1_Missense_Mutation_p.H262Y|C1orf51_ENST00000369094.1_Missense_Mutation_p.H174Y	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	262										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTGGATCCACACCACTCC	0.502000													21	155					0	0	0.002780	0	0
BRD8	10902	broad.mit.edu	37	5	137485414	137485414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:137485414G>A	ENST00000254900.5	-	23	3564	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1065					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCGCCTGAAGGGGGCTGGTCT	0.493000													11	41					0	0	0.008291	0	0
EPHB2	2048	broad.mit.edu	37	1	23107967	23107967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:23107967C>T	ENST00000400191.3	+	2	133	c.115C>T	c.(115-117)Cct>Tct	p.P39S	EPHB2_ENST00000374630.3_Missense_Mutation_p.P39S|EPHB2_ENST00000374632.3_Missense_Mutation_p.P39S|EPHB2_ENST00000544305.1_Missense_Mutation_p.P39S|EPHB2_ENST00000374627.1_Missense_Mutation_p.P33S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	39					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GATGGTGCATCCTCCATCAGG	0.607000													8	24					0	0	0.006214	0	0
BTBD7	55727	broad.mit.edu	37	14	93723605	93723605	+	Missense_Mutation	SNP	G	G	A	rs113550651		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:93723605G>A	ENST00000334746.5	-	6	1851	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	BTBD7_ENST00000554565.1_Missense_Mutation_p.S164F|BTBD7_ENST00000393170.2_Missense_Mutation_p.S89F	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	515										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGGTAAGAGAGAAGAAAGGAT	0.403000													41	52					0	0	0.011902	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217656	150217656	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:150217656G>A	ENST00000313543.4	+	2	751	c.594G>A	c.(592-594)ggG>ggA	p.G198G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	198							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAAGGGGCTTACTTTT	0.433000													26	52					0	0	0.004656	0	0
OGDH	4967	broad.mit.edu	37	7	44747488	44747488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:44747488C>T	ENST00000222673.5	+	23	3004	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	OGDH_ENST00000449767.1_Missense_Mutation_p.R984W|OGDH_ENST00000447398.1_Missense_Mutation_p.R999W|OGDH_ENST00000444676.1_Missense_Mutation_p.R1003W|OGDH_ENST00000439616.2_Missense_Mutation_p.R838W|OGDH_ENST00000543843.1_Missense_Mutation_p.R939W	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	988					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTATGCCGGCCGGGACCCAGC	0.647000													22	36					0	0	0.002780	0	0
FAM193A	8603	broad.mit.edu	37	4	2691333	2691333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:2691333C>T	ENST00000324666.5	+	12	1910	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	FAM193A_ENST00000382839.3_Missense_Mutation_p.P520L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P542L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P520L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P520L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	520										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGGAATACTCCAGAGTGGAAT	0.398000													28	36					0	0	0.007291	0	0
SLC10A3	8273	broad.mit.edu	37	X	153717110	153717110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:153717110G>A	ENST00000263512.4	-	2	668	c.170C>T	c.(169-171)aCc>aTc	p.T57I	SLC10A3_ENST00000393587.4_Missense_Mutation_p.T57I|SLC10A3_ENST00000393586.1_Missense_Mutation_p.T112I|SLC10A3_ENST00000369649.4_Missense_Mutation_p.T57I	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	57					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTGGCACGGTGTGACCCCC	0.612000													38	8					0	0	0.007835	0	0
MAST3	23031	broad.mit.edu	37	19	18248077	18248077	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18248077C>T	ENST00000262811.5	+	18	1914	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	638	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGCAGCACCCCTTTTTCCTGG	0.617000													25	41					0	0	0.003330	0	0
FAM179A	165186	broad.mit.edu	37	2	29240077	29240077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29240077G>A	ENST00000379558.4	+	9	1453	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.E368K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	368							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGATGAAGGAGATGGAGCT	0.557000													42	44					0	0	0.010771	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585199	86585199	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:86585199G>A	ENST00000376263.3	-	16	1462	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	HNRNPK_ENST00000360384.5_Silent_p.I413I|HNRNPK_ENST00000351839.3_Silent_p.I413I|HNRNPK_ENST00000376264.2_Silent_p.I413I|HNRNPK_ENST00000376281.4_Silent_p.I413I	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	413	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACTCATGACGGATTTGTTTAA	0.378000													28	29					0	0	0.007291	0	0
DHRS3	9249	broad.mit.edu	37	1	12628405	12628405	+	Silent	SNP	G	G	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:12628405G>C	ENST00000376223.2	-	6	1256	c.873C>G	c.(871-873)acC>acG	p.T291T		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	291					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGCAGGTGTAGGTTCCTGAGA	0.527000													63	68					0	0	0.014410	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976397	89976397	+	RNA	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:89976397A>T	ENST00000474213.1	+	0	303																											ATTCAGCGGCAGTGGGTCAGG	0.512000													60	94					0	0	0.014410	0	0
SHQ1	55164	broad.mit.edu	37	3	72799687	72799687	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:72799687G>A	ENST00000325599.8	-	11	1621	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.P466P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	494					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTCAAGAAAGGGACCTTGCA	0.473000													28	62					0	0	0.008361	0	0
FREM1	158326	broad.mit.edu	37	9	14750169	14750169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:14750169C>T	ENST00000380881.4	-	31	6331	c.5516G>A	c.(5515-5517)gGc>gAc	p.G1839D	FREM1_ENST00000380894.1_Missense_Mutation_p.G374D|FREM1_ENST00000380880.3_Missense_Mutation_p.G1838D|FREM1_ENST00000422223.2_Missense_Mutation_p.G1838D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1838					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTCTTTGTGCCAAGAACTGC	0.418000													44	69					0	0	0.014410	0	0
PTK2B	2185	broad.mit.edu	37	8	27255116	27255116	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:27255116C>T	ENST00000397501.1	+	7	823	c.15C>T	c.(13-15)tcC>tcT	p.S5S	PTK2B_ENST00000517339.1_Silent_p.S5S|PTK2B_ENST00000338238.4_Silent_p.S5S|PTK2B_ENST00000544172.1_Silent_p.S5S|PTK2B_ENST00000346049.5_Silent_p.S5S|PTK2B_ENST00000420218.2_Silent_p.S5S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGGGGTGTCCGAGCCCCTGA	0.602000													42	41					0	0	0.014410	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020898	33020898	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:33020898G>A	ENST00000565407.2	+	0	306				RP11-19N8.2_ENST00000567619.1_RNA																							ATCTGCAAATGAACAGCCTGA	0.517000													99	157					0	0	0.014410	0	0
DDX50	79009	broad.mit.edu	37	10	70670829	70670829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:70670829G>A	ENST00000373585.3	+	4	573	c.466G>A	c.(466-468)Ggg>Agg	p.G156R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	156						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACAGGTCGAGGGGTAACATA	0.318000													29	60					0	0	0.008361	0	0
CSMD1	64478	broad.mit.edu	37	8	2823345	2823345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:2823345G>A	ENST00000602557.1	-	60	9790	c.9235C>T	c.(9235-9237)Cgc>Tgc	p.R3079C	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3078C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3079C|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3079	Sushi 24.					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)		TTGGTACAGCGAATAGTGGCG	0.458000													6	7					0	0	0.001984	0	0
CKLF	51192	broad.mit.edu	37	16	66599830	66599830	+	Silent	SNP	G	G	A	rs144099542		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:66599830G>A	ENST00000264001.4	+	4	524	c.375G>A	c.(373-375)ggG>ggA	p.G125G	CKLF_ENST00000362093.4_Silent_p.G40G|CKLF_ENST00000345436.4_Silent_p.G93G|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Silent_p.G72G|CKLF-CMTM1_ENST00000527729.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TTGCCGACGGGGCCCTTATTT	0.443000													32	64					0	0	0.004878	0	0
POLG	5428	broad.mit.edu	37	15	89867054	89867054	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:89867054G>A	ENST00000268124.5	-	12	2482	c.2149C>T	c.(2149-2151)Cta>Tta	p.L717L	POLG_ENST00000442287.2_Silent_p.L717L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	717					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCAGAGCTAGGGGTTGACCT	0.567000								DNA polymerases (catalytic subunits)					20	42					0	0	0.014323	0	0
XDH	7498	broad.mit.edu	37	2	31569699	31569699	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:31569699T>C	ENST00000379416.3	-	30	3335	c.3287A>G	c.(3286-3288)cAg>cGg	p.Q1096R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1096					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGATGGTCTGACAAGCCGC	0.542000													53	57					0	0	0.014410	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315775	128315775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:128315775C>T	ENST00000480462.1	+	2	333	c.227C>T	c.(226-228)aCc>aTc	p.T76I	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.T76I|FAM71F2_ENST00000378704.3_Missense_Mutation_p.T67I			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	76										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GGGTCTGCCACCGTGATCCTC	0.587000													20	23					0	0	0.003330	0	0
SERPINF2	5345	broad.mit.edu	37	17	1649139	1649139	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:1649139C>T	ENST00000324015.3	+	5	380	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SERPINF2_ENST00000382061.4_Silent_p.S101S|SERPINF2_ENST00000450523.2_Intron	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	101					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTCAAACGTCCACCTGCCCCA	0.637000													40	55					0	0	0.009718	0	0
SF3B3	23450	broad.mit.edu	37	16	70562804	70562804	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:70562804C>T	ENST00000302516.5	+	3	310	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	33					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTTGTTTCCCGTGGGAAGA	0.478000													26	38					0	0	0.013726	0	0
XKR4	114786	broad.mit.edu	37	8	56015094	56015094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:56015094G>A	ENST00000327381.5	+	1	146	c.46G>A	c.(46-48)Gac>Aac	p.D16N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	16						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAAAAGCAGCGACGTGGCGTT	0.627000													14	14					0	0	0.002450	0	0
KLHL24	54800	broad.mit.edu	37	3	183381313	183381313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:183381313C>T	ENST00000454652.1	+	5	1374	c.988C>T	c.(988-990)Cca>Tca	p.P330S	KLHL24_ENST00000242810.6_Missense_Mutation_p.P330S|KLHL24_ENST00000476808.1_Missense_Mutation_p.P330S			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	330						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATTTAATCTTCCATACACTGA	0.398000													24	41					0	0	0.009535	0	0
RGPD4	285190	broad.mit.edu	37	2	108488493	108488493	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:108488493G>C	ENST00000408999.3	+	20	4110	c.4033G>C	c.(4033-4035)Gtt>Ctt	p.V1345L	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1345L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1345	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCTGATCTAGTTGAAGTATC	0.403000													82	157					0	0	0.014410	0	0
RYR3	6263	broad.mit.edu	37	15	33962662	33962662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:33962662C>T	ENST00000389232.4	+	38	5835	c.5765C>T	c.(5764-5766)tCc>tTc	p.S1922F	RYR3_ENST00000415757.3_Missense_Mutation_p.S1922F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1922	4 X approximate repeats.				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)		gaggaCACCTCCTGGACAGGA	0.522000													21	32					0	0	0.008871	0	0
DDX60L	91351	broad.mit.edu	37	4	169362542	169362542	+	Missense_Mutation	SNP	G	G	A	rs34420455		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:169362542G>A	ENST00000511577.1	-	10	1487	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	DDX60L_ENST00000505890.1_Missense_Mutation_p.P414S|DDX60L_ENST00000260184.7_Missense_Mutation_p.P414S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	414							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCTCAGAGGAAAAGACTTT	0.373000													32	63					0	0	0.009535	0	0
TOX2	84969	broad.mit.edu	37	20	42693450	42693450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:42693450G>A	ENST00000372999.1	+	7	981	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TOX2_ENST00000341197.3_Missense_Mutation_p.E305K|TOX2_ENST00000358131.5_Intron|TOX2_ENST00000423191.1_Missense_Mutation_p.E263K|TOX2_ENST00000435864.2_Missense_Mutation_p.E183K	NM_032883.2	NP_116272.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAAAGAAGGAATATCTGAA	0.562000													29	63					0	0	0.010818	0	0
MYH2	4620	broad.mit.edu	37	17	10429969	10429969	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10429969C>T	ENST00000245503.5	-	30	4518	c.4134G>A	c.(4132-4134)agG>agA	p.R1378R	MYH2_ENST00000397183.2_Silent_p.R1378R|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1378					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTATTTGGTCCTCCATTGGG	0.542000													60	101					0	0	0.014410	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51048686	51048686	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:51048686T>G	ENST00000399908.2	+	9	2268	c.1552T>G	c.(1552-1554)Tgc>Ggc	p.C518G	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.C783G|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.C558G|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.C404G|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.C506G|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.C518G	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	784					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCTTCGCCTGCCACGTCTT	0.647000													5	8					0	0	0.001168	0	0
MYH3	4621	broad.mit.edu	37	17	10541731	10541731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10541731C>T	ENST00000583535.1	-	27	3445	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1120K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1120					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP 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						ATCTCCTCTTCCAGCTCCTCA	0.637000													15	21					0	0	0.004990	0	0
HRH3	11255	broad.mit.edu	37	20	60791346	60791346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60791346G>A	ENST00000340177.5	-	3	1338	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	HRH3_ENST00000317393.6_Missense_Mutation_p.R352W	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	352					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TTCCTGTCCCGAGACAGCCGA	0.632000													10	15					0	0	0.010729	0	0
LRRK1	79705	broad.mit.edu	37	15	101593520	101593520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101593520C>T	ENST00000284395.5	+	27	4340	c.3940C>T	c.(3940-3942)Ccc>Tcc	p.P1314S	LRRK1_ENST00000388948.3_Missense_Mutation_p.P1317S|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1317	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGCAGCACCCCTGCATCGT	0.662000													12	26					0	0	0.004007	0	0
ABCD4	5826	broad.mit.edu	37	14	74759019	74759019	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74759019G>A	ENST00000356924.4	-	11	1232	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	ABCD4_ENST00000298816.7_Silent_p.I259I|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	363						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCTCGCCCAGGATCTCGCAGT	0.587000													24	53					0	0	0.003271	0	0
SKOR1	390598	broad.mit.edu	37	15	68119370	68119370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:68119370G>A	ENST00000380035.2	+	2	1262	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SKOR1_ENST00000389002.1_Missense_Mutation_p.A358T|SKOR1_ENST00000554054.1_Missense_Mutation_p.A374T|SKOR1_ENST00000554240.1_Missense_Mutation_p.A363T|SKOR1_ENST00000341418.5_Missense_Mutation_p.A509T			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	402					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTTCCCTACGGCCTTCGGCCT	0.667000													29	27					0	0	0.012213	0	0
VIL1	7429	broad.mit.edu	37	2	219297644	219297644	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219297644C>T	ENST00000248444.5	+	13	1558	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	VIL1_ENST00000392114.2_Silent_p.S179S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	490	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTTATGTCCATCTTCAAGG	0.547000													20	26					0	0	0.007413	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858274	54858274	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:54858274C>T	ENST00000333896.5	+	15	3436	c.3051C>T	c.(3049-3051)gcC>gcT	p.A1017A	SPTBN1_ENST00000356805.4_Silent_p.A1030A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1030					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCGACCAGGCCCAGGCCATCC	0.637000													26	47					0	0	0.007291	0	0
TEKT3	64518	broad.mit.edu	37	17	15212126	15212126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:15212126C>T	ENST00000395930.1	-	8	1297	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	TEKT3_ENST00000338696.2_Missense_Mutation_p.E371K	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	371					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGAAAATCTCCTGCAGGGTC	0.537000													31	45					0	0	0.003755	0	0
PTRH2	51651	broad.mit.edu	37	17	57775240	57775240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:57775240G>A	ENST00000470557.2	-	1	3546	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PTRH2_ENST00000409433.2_Nonsense_Mutation_p.R35*|PTRH2_ENST00000393038.2_Nonsense_Mutation_p.R34*|PTRH2_ENST00000537860.1_Nonsense_Mutation_p.R34*			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	34					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGCATACTCGAAGGCTCCAG	0.512000													14	37					0	0	0.003163	0	0
AQP4	361	broad.mit.edu	37	18	24440760	24440760	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:24440760G>A	ENST00000383168.4	-	4	797	c.669C>T	c.(667-669)atC>atT	p.I223I	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Silent_p.I201I|AQP4_ENST00000581374.1_Silent_p.I201I|AQP4_ENST00000583022.1_5'UTR	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	223					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTTCCCATGATAACTGCAG	0.418000													49	92					0	0	0.014410	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554608	44554608	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44554608T>A	ENST00000330682.2	-	1	1841	c.1606A>T	c.(1606-1608)Att>Ttt	p.I536F	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TAGTCTCGAATTGCCTTGGCC	0.597000													22	447					0	0	0.007291	0	0
CYP3A5	1577	broad.mit.edu	37	7	99270254	99270254	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:99270254C>T	ENST00000343703.5	-	5	623	c.237G>A	c.(235-237)gtG>gtA	p.V79V	CYP3A5_ENST00000222982.4_Silent_p.V89V|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.V89V|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CTGTTCTGATCACGTCGGGAT	0.423000													76	98					0	0	0.014410	0	0
DEFB123	245936	broad.mit.edu	37	20	30037904	30037904	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:30037904T>A	ENST00000376309.3	+	2	311	c.131T>A	c.(130-132)gTt>gAt	p.V44D		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	44					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGTCTATGTTTACTGCATA	0.433000													30	50					0	0	0.008361	0	0
CTNND2	1501	broad.mit.edu	37	5	11565168	11565168	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:11565168C>T	ENST00000304623.8	-	3	364	c.174_splice	c.e3-1	p.E59_splice	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000359640.2_Splice_Site_p.E59_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	59					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACTGTAATTCCTGAAAGAAA	0.468000													11	19					0	0	0.008291	0	0
SACS	26278	broad.mit.edu	37	13	23915199	23915199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23915199G>A	ENST00000382298.3	-	10	3404	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	SACS_ENST00000402364.1_Missense_Mutation_p.S189F|SACS_ENST00000382292.3_Missense_Mutation_p.S939F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	939					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTATAAGAGGAAATTCCCTG	0.363000													15	39					0	0	0.004990	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906770	29906770	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:29906770C>T	ENST00000308713.5	-	5	1190	c.663G>A	c.(661-663)ctG>ctA	p.L221L	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Silent_p.L151L|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Silent_p.L177L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	221	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGACAGGTTCAGCGTCTGCA	0.612000													25	22					0	0	0.003954	0	0
TRAK1	22906	broad.mit.edu	37	3	42234641	42234641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:42234641G>A	ENST00000327628.5	+	8	1244	c.844G>A	c.(844-846)Gag>Aag	p.E282K	TRAK1_ENST00000341421.3_Missense_Mutation_p.E224K|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.E224K|TRAK1_ENST00000449246.1_Missense_Mutation_p.E208K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	282	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCCAGCAAGAGGAGATCAC	0.468000													37	52					0	0	0.005524	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84610012	84610012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:84610012C>T	ENST00000344803.2	+	4	4674	c.4627C>T	c.(4627-4629)Cca>Tca	p.P1543S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCAGCCGTCCCAACCAGTGC	0.527000													9	5					0	0	0.004482	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002861	52002861	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52002861C>T	ENST00000291707.3	-	3	973	c.918G>A	c.(916-918)acG>acA	p.T306T	SIGLEC12_ENST00000598614.1_Silent_p.T188T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	306	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTGATCGTGGGGGGCG	0.667000													26	29					0	0	0.005443	0	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:214170398C>T	ENST00000366958.4	+	2	1128	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_ENST00000261454.4_Missense_Mutation_p.R174W|PROX1_ENST00000435016.1_Missense_Mutation_p.R174W|PROX1_ENST00000498508.2_Missense_Mutation_p.R174W	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000													29	88					0	0	0.009535	0	0
ANK3	288	broad.mit.edu	37	10	61815586	61815586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:61815586G>A	ENST00000280772.1	-	42	13086	c.12895C>T	c.(12895-12897)Cca>Tca	p.P4299S	ANK3_ENST00000503366.1_Missense_Mutation_p.P1790S|ANK3_ENST00000373827.2_Missense_Mutation_p.P1783S|ANK3_ENST00000355288.2_Missense_Mutation_p.P923S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4299					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						GCTGCTAGTGGTGATGCTGGT	0.393000													75	90					0	0	0.014410	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582845	120582845	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120582845C>T	ENST00000300648.6	-	40	5049	c.5037G>A	c.(5035-5037)aaG>aaA	p.K1679K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1679					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)					CCCCAAGGGCCTTTGCAGATA	0.572000													18	35					0	0	0.008871	0	0
FNBP1	23048	broad.mit.edu	37	9	132662284	132662284	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:132662284G>A	ENST00000420781.1	-	15	1838	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000443566.2_Silent_p.L177L|FNBP1_ENST00000355681.3_Silent_p.L520L|FNBP1_ENST00000446176.2_Silent_p.L549L			Q96RU3	FNBP1_HUMAN	formin binding protein 1	549	Interaction with DNM1 and DNM3.|Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTATGGCAGGGAGGGGCTCCT	0.493000			T	MLL	AML								46	65					0	0	0.014410	0	0
ADAM7	8756	broad.mit.edu	37	8	24349506	24349506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:24349506G>A	ENST00000175238.6	+	14	1530	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D483N|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D255N|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	483	Disintegrin.				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)		CTGTCCTAAGGACCAGTTCAG	0.473000													57	59					0	0	0.014410	0	0
NR6A1	2649	broad.mit.edu	37	9	127298359	127298359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:127298359C>T	ENST00000487099.2	-	7	1034	c.877G>A	c.(877-879)Gag>Aag	p.E293K	NR6A1_ENST00000416460.2_Missense_Mutation_p.E288K|NR6A1_ENST00000344523.4_Missense_Mutation_p.E292K|NR6A1_ENST00000373584.3_Missense_Mutation_p.E289K	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	293					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AAGAGCAGCTCGTCGGCCAGG	0.542000													49	51					0	0	0.014410	0	0
TTC21A	199223	broad.mit.edu	37	3	39162558	39162558	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:39162558C>G	ENST00000301819.6	+	9	1172	c.995C>G	c.(994-996)tCg>tGg	p.S332W	TTC21A_ENST00000431162.2_Missense_Mutation_p.S332W|TTC21A_ENST00000440121.1_Missense_Mutation_p.S283W	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	332							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCACCCCCTCGTATGTCCAT	0.512000													26	35					0	0	0.006320	0	0
KLHL1	57626	broad.mit.edu	37	13	70281842	70281842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:70281842C>T	ENST00000377844.4	-	10	2861	c.2102G>A	c.(2101-2103)aGa>aAa	p.R701K	KLHL1_ENST00000545028.1_Missense_Mutation_p.R508K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	701					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCATATAATCTGTCACCAAG	0.438000													19	26					0	0	0.006122	0	0
SLC24A1	9187	broad.mit.edu	37	15	65931956	65931956	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:65931956G>A	ENST00000261892.6	+	4	2255	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	SLC24A1_ENST00000546330.1_Silent_p.G638G|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_Silent_p.G638G|SLC24A1_ENST00000399033.4_Silent_p.G656G|SLC24A1_ENST00000339868.6_Silent_p.G638G	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	656					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACCCGAGGGAGCAGCTCGA	0.622000													4	5					0	0	0.009096	0	0
MYO19	80179	broad.mit.edu	37	17	34856752	34856752	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:34856752G>A	ENST00000431794.3	-	23	2817	c.2295C>T	c.(2293-2295)gcC>gcT	p.A765A	MYO19_ENST00000268852.9_Silent_p.A565A	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	765	IQ 1.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGATGCAGCGGGCACACTGCT	0.672000													6	8					0	0	0.001168	0	0
NSMAF	8439	broad.mit.edu	37	8	59508133	59508133	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:59508133A>G	ENST00000038176.3	-	22	2090	c.1878T>C	c.(1876-1878)taT>taC	p.Y626Y	NSMAF_ENST00000427130.2_Silent_p.Y657Y	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	626			Y -> C (in dbSNP:rs2228505).		ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGTGGATTTTATAGTGCTCGT	0.423000													19	29					0	0	0.014323	0	0
MYH1	4619	broad.mit.edu	37	17	10398588	10398588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10398588G>A	ENST00000226207.5	-	36	5310	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1739						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATTTGGGAAATGTCTGT	0.433000													49	64					0	0	0.014410	0	0
RNF157	114804	broad.mit.edu	37	17	74236267	74236267	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74236267A>C	ENST00000269391.6	-	1	187	c.55T>G	c.(55-57)Tct>Gct	p.S19A	RNF157_ENST00000319945.6_Missense_Mutation_p.S19A|RNF157_ENST00000592271.1_Missense_Mutation_p.S19A	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	19							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACGGAATTAGACGGGATGTCC	0.776000													4	15					0	0	0.009096	0	0
SYT15	83849	broad.mit.edu	37	10	46965032	46965032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:46965032G>A	ENST00000374323.3	-	5	1659	c.1072C>T	c.(1072-1074)Ctc>Ttc	p.L358F	SYT15_ENST00000503753.1_Missense_Mutation_p.L305F|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.L305F|SYT15_ENST00000374325.3_Missense_Mutation_p.L305F			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	305	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGAGCCGGAGGCCCTTGGCA	0.637000													6	26					0	0	0.001984	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237115	5237115	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:5237115A>T	ENST00000274181.7	+	14	2195	c.2057A>T	c.(2056-2058)gAa>gTa	p.E686V	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	686	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTATCGCAGAAGGATTTGAT	0.353000													35	54					0	0	0.004878	0	0
NPHP4	261734	broad.mit.edu	37	1	6046249	6046249	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:6046249A>T	ENST00000378156.4	-	2	366	c.101T>A	c.(100-102)gTc>gAc	p.V34D	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	34					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTTGAGGACACACTGGAA	0.522000													8	13					0	0	0.006214	0	0
TLR4	7099	broad.mit.edu	37	9	120475197	120475197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:120475197G>A	ENST00000355622.6	+	3	892	c.791G>A	c.(790-792)aGa>aAa	p.R264K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R224K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	264					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGAATTTAGAAATGAAGGA	0.358000													46	43					0	0	0.014410	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186346	50186346	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:50186346G>A	ENST00000335999.6	-	12	3876	c.3675C>T	c.(3673-3675)acC>acT	p.T1225T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1221	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGACAGGAGGGGTGGGGCCTG	0.652000													18	30					0	0	0.012319	0	0
TRAV5	28688	broad.mit.edu	37	14	22217917	22217917	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:22217917G>A	ENST00000390427.3	+	0	280																											GAATAAAAAGGATAAACATCT	0.433000													26	40					0	0	0.003954	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887849	30887849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30887849C>T	ENST00000392772.2	-	10	998	c.721G>A	c.(721-723)Gag>Aag	p.E241K	SEC14L4_ENST00000381982.3_Missense_Mutation_p.E295K|SEC14L4_ENST00000255858.7_Missense_Mutation_p.E295K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E280K|RP4-539M6.14_ENST00000442126.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	295	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AACAGGATCTCGTTCTCCACC	0.652000													5	6					0	0	0.001168	0	0
SGCG	6445	broad.mit.edu	37	13	23777974	23777974	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23777974C>T	ENST00000218867.3	+	2	265	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SGCG_ENST00000537476.1_Silent_p.L47L|SGCG_ENST00000545013.1_Silent_p.L47L	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	47					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TCATCATCCTCGTTGTGAATT	0.368000													18	54					0	0	0.008871	0	0
MAPK10	5602	broad.mit.edu	37	4	86950413	86950413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:86950413C>T	ENST00000395169.3	-	13	1795	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	MAPK10_ENST00000395157.3_Missense_Mutation_p.E252K|MAPK10_ENST00000395160.3_Missense_Mutation_p.E252K|MAPK10_ENST00000361569.2_Missense_Mutation_p.E397K|MAPK10_ENST00000359221.3_Missense_Mutation_p.E397K|MAPK10_ENST00000395161.2_Missense_Mutation_p.E397K|MAPK10_ENST00000449047.2_Missense_Mutation_p.E252K|MAPK10_ENST00000395166.1_Missense_Mutation_p.E359K	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	397	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCATTACTTCCTTGTAGATA	0.333000													17	17					0	0	0.008871	0	0
ZNF423	23090	broad.mit.edu	37	16	49671409	49671409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:49671409C>T	ENST00000561648.1	-	4	1707	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M	ZNF423_ENST00000262383.2_Missense_Mutation_p.V552M|ZNF423_ENST00000535559.1_Missense_Mutation_p.V435M|ZNF423_ENST00000562871.1_Missense_Mutation_p.V492M|ZNF423_ENST00000562520.1_Missense_Mutation_p.V492M|ZNF423_ENST00000567169.1_Missense_Mutation_p.V435M|ZNF423_ENST00000563137.2_Missense_Mutation_p.V492M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	552					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCTGCACCACCGGAGACTCT	0.572000													20	53					0	0	0.010504	0	0
HRNR	388697	broad.mit.edu	37	1	152195625	152195625	+	Silent	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152195625T>C	ENST00000368801.2	-	2	180	c.105A>G	c.(103-105)gaA>gaG	p.E35E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	35	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCCAGAAGTTCTTTCAGCT	0.428000													54	97					0	0	0.014410	0	0
OR51A4	401666	broad.mit.edu	37	11	4967648	4967648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4967648C>T	ENST00000380373.2	-	1	708	c.683G>A	c.(682-684)gGa>gAa	p.G228E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	228					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)		GGATGCAATTCCCAGTACAGT	0.433000													20	31					0	0	0.008871	0	0
OR6C2	341416	broad.mit.edu	37	12	55846693	55846693	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:55846693G>A	ENST00000322678.1	+	1	696	c.696G>A	c.(694-696)agG>agA	p.R232R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCAGCAAAGGAAAAAGGCCT	0.413000													55	67					0	0	0.014410	0	0
FLII	2314	broad.mit.edu	37	17	18160274	18160274	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:18160274G>A	ENST00000327031.4	-	2	348	c.123C>T	c.(121-123)aaC>aaT	p.N41N	FLII_ENST00000579294.1_Silent_p.N30N|FLII_ENST00000578558.1_Silent_p.N41N|FLII_ENST00000545457.2_Silent_p.N41N|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000379450.4_Silent_p.N10N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	41	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGCCAGTGCGGTTCAGCTTCA	0.647000													5	18					0	0	0.003080	0	0
SIM1	6492	broad.mit.edu	37	6	100841684	100841684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:100841684G>A	ENST00000369208.3	-	11	2031	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	SIM1_ENST00000262901.4_Missense_Mutation_p.P417S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	417	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAAGCTGCGGAGAGGCCGTG	0.587000													17	5					0	0	0.004007	0	0
NLGN2	57555	broad.mit.edu	37	17	7319288	7319288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7319288C>T	ENST00000302926.2	+	6	1569	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	NLGN2_ENST00000575301.1_Missense_Mutation_p.A499V	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	499					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCAGATGCGGCGCACGGGGAT	0.612000													17	38					0	0	0.007413	0	0
COL5A2	1290	broad.mit.edu	37	2	189931456	189931456	+	Splice_Site	SNP	G	G	A	rs145281966	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:189931456G>A	ENST00000374866.3	-	22	1728	c.1455_splice	c.e22+1	p.P485_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	485					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAACCTTACTGGTTCCCCTTT	0.348000													35	57					0	0	0.004878	0	0
MCF2L	23263	broad.mit.edu	37	13	113633988	113633988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:113633988G>A	ENST00000375601.3	+	1	334	c.7G>A	c.(7-9)Gag>Aag	p.E3K	MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.E3K|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000375604.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTCGATGGCCGAGAAGGGAGC	0.657000													18	17					0	0	0.012319	0	0
CHSY1	22856	broad.mit.edu	37	15	101718446	101718446	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101718446A>G	ENST00000254190.3	-	3	2031	c.1556T>C	c.(1555-1557)cTc>cCc	p.L519P	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	519					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGACCCAGGGAGCTGAAAGGG	0.458000													33	62					0	0	0.005524	0	0
FASN	2194	broad.mit.edu	37	17	80038593	80038593	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:80038593G>A	ENST00000306749.2	-	39	7019	c.6801C>T	c.(6799-6801)ccC>ccT	p.P2267P	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2267	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCCATAGGTGGGGATGCTGA	0.682000													8	15					0	0	0.004482	0	0
CCDC173	129881	broad.mit.edu	37	2	170510670	170510670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:170510670C>T	ENST00000447353.1	-	6	979	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TCATCTTCTTCCTCTTGCTGC	0.328000													5	5					0	0	0.000602	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187924	37187924	+	RNA	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37187924C>G	ENST00000425901.2	+	0	1766					NR_033753.2																						GGAGGTTGAACCTTTTCCAAC	0.483000													17	21					0	0	0.004990	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186345	50186345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:50186345G>A	ENST00000335999.6	-	12	3877	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1222	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGACAGGAGGGGTGGGGCCT	0.647000													19	31					0	0	0.014323	0	0
TLE4	7091	broad.mit.edu	37	9	82323515	82323515	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:82323515C>T	ENST00000376520.4	+	14	2001	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	TLE4_ENST00000376544.3_Silent_p.S290S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.S359S|TLE4_ENST00000376537.4_Silent_p.S391S|TLE4_ENST00000265284.6_Silent_p.S334S			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCTCAAGCCTAAGGACCC	0.468000													47	93					0	0	0.014410	0	0
TRIM54	57159	broad.mit.edu	37	2	27521478	27521478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27521478C>T	ENST00000296098.4	+	2	482	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TRIM54_ENST00000380075.2_Missense_Mutation_p.S71F	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	71					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCACTGTGTCTTCAGGAGGC	0.602000													15	31					0	0	0.003163	0	0
MUC3A	4584	broad.mit.edu	37	7	100551575	100551575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:100551575G>A	ENST00000319509.7	+	1	326	c.326G>A	c.(325-327)aGa>aAa	p.R109K						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGACCCTCAGAATTACTGAG	0.488000													101	147					0	0	0.014410	0	0
LAMA5	3911	broad.mit.edu	37	20	60900498	60900498	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60900498C>T	ENST00000252999.3	-	41	5469	c.5403G>A	c.(5401-5403)caG>caA	p.Q1801Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1801	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGAGGAGATCTGTGAGAAGA	0.662000													17	20					0	0	0.007413	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642820	19642820	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:19642820C>T	ENST00000457500.2	-	7	1446		c.e7+1		ALDH3A1_ENST00000225740.6_Splice_Site|ALDH3A1_ENST00000444455.1_Splice_Site|ALDH3A1_ENST00000395555.3_Splice_Site|ALDH3A1_ENST00000494157.2_Splice_Site	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACCACCCACCTTGTCGTTG	0.627000													9	12					0	0	0.006214	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171744	67171744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67171744C>T	ENST00000312390.5	+	2	100	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S24F|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.S24F	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	24						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCTTGGGGTCCGACTCAGAG	0.682000													8	8					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179581966	179581966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179581966C>T	ENST00000589042.1	-	88	25719	c.25495G>A	c.(25495-25497)Gga>Aga	p.G8499R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7255R|TTN_ENST00000591111.1_Missense_Mutation_p.G8182R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8182	Ig-like 67.						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)			TAGTTGCCTCCAGGGCGAATC	0.458000													19	39					0	0	0.010504	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520670	33520670	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:33520670G>A	ENST00000297307.5	-	1	742	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	219						integral to membrane											CCACTGTTGGGAGGCAGGGGG	0.627000													44	50					0	0	0.011902	0	0
FAM47A	158724	broad.mit.edu	37	X	34149531	34149531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:34149531C>T	ENST00000346193.3	-	1	916	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	289								p.E289K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTGTGGGTTCGTCAGTTGTC	0.572000													15	3					0	0	0.002450	0	0
KIFC3	3801	broad.mit.edu	37	16	57803756	57803756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:57803756G>A	ENST00000379655.4	-	8	1308	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	KIFC3_ENST00000543930.1_Nonsense_Mutation_p.Q212*|KIFC3_ENST00000421376.2_Nonsense_Mutation_p.Q212*|KIFC3_ENST00000445690.2_Nonsense_Mutation_p.Q351*|KIFC3_ENST00000465878.2_Nonsense_Mutation_p.Q212*|KIFC3_ENST00000562903.1_Nonsense_Mutation_p.Q212*|KIFC3_ENST00000540079.2_Nonsense_Mutation_p.Q249*|KIFC3_ENST00000539578.1_Nonsense_Mutation_p.Q293*|KIFC3_ENST00000541240.1_Nonsense_Mutation_p.Q373*	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	351					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				ATCTCCACCTGGGCTCTGGCA	0.647000													21	21					0	0	0.012319	0	0
PRDM9	56979	broad.mit.edu	37	5	23522840	23522840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:23522840C>T	ENST00000296682.3	+	8	910	c.728C>T	c.(727-729)cCc>cTc	p.P243L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGTCTGCCCCCAGGGCTG	0.572000										HNSCC(3;0.000094)			12	24					0	0	0.001855	0	0
CHFR	55743	broad.mit.edu	37	12	133434019	133434019	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:133434019G>A	ENST00000266880.7	-	9	1137	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	CHFR_ENST00000443047.2_Silent_p.L266L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Silent_p.L317L|CHFR_ENST00000450056.2_Silent_p.L346L|CHFR_ENST00000432561.2_Silent_p.L358L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	358					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ATGCTTCCACGAGGTTGTTGA	0.632000													22	37					0	0	0.002780	0	0
PTPRO	5800	broad.mit.edu	37	12	15636986	15636986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:15636986C>T	ENST00000281171.4	+	2	484	c.154C>T	c.(154-156)Cca>Tca	p.P52S	PTPRO_ENST00000543886.1_Missense_Mutation_p.P52S|PTPRO_ENST00000348962.2_Missense_Mutation_p.P52S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	52	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTCATCAGTCCAGCATCTGT	0.363000													27	45					0	0	0.004656	0	0
COL21A1	81578	broad.mit.edu	37	6	56033065	56033065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:56033065G>A	ENST00000244728.5	-	6	1454	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	COL21A1_ENST00000535941.1_Missense_Mutation_p.R353C|COL21A1_ENST00000370819.1_Missense_Mutation_p.R353C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	353	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTAAGAGACGAATTTGGTGC	0.348000													5	16					0	0	0.001168	0	0
KEL	3792	broad.mit.edu	37	7	142655421	142655421	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142655421C>T	ENST00000355265.2	-	5	969	c.495G>A	c.(493-495)ggG>ggA	p.G165G	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	165					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGACCAGTCCCTGCAGCTT	0.488000													32	82					0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179457237	179457237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179457237C>T	ENST00000589042.1	-	301	59719	c.59495G>A	c.(59494-59496)aGa>aAa	p.R19832K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10892K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10959K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10767K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17264K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18191K|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18191	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R10959K(1)|p.R17262K(1)|p.R10767K(1)|p.R10892K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAATTCTTGCTTTAGT	0.403000													107	154					0	0	0.014410	0	0
TXNDC16	57544	broad.mit.edu	37	14	53009099	53009099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:53009099G>A	ENST00000281741.4	-	4	604	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	78					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTGGCAACTGAAATTCCATA	0.318000													20	26					0	0	0.012319	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166711	180166711	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:180166711C>T	ENST00000307832.2	-	1	388	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCATCACCACCAGGAGCA	0.607000													28	22					0	0	0.005443	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623768	21623768	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21623768C>T	ENST00000304418.3	-	1	454	c.417G>A	c.(415-417)aaG>aaA	p.K139K		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCACTTTCCTCTTGGCCAAGA	0.517000													17	33					0	0	0.004007	0	0
LINC00957	255031	broad.mit.edu	37	7	44080541	44080541	+	RNA	SNP	G	G	A	rs3099751		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:44080541G>A	ENST00000441052.1	+	0	1226																											CTGCCGCTGCGCCCCGCACCC	0.617000													4	41					0	0	0.009096	0	0
NRXN1	9378	broad.mit.edu	37	2	50779866	50779866	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:50779866A>T	ENST00000404971.1	-	10	3077	c.1738T>A	c.(1738-1740)Ttc>Atc	p.F580I	NRXN1_ENST00000406316.2_Missense_Mutation_p.F540I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F532I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F540I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F532I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.F540I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	540	Laminin G-like 3.				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)			ATAGCAAAGAAGTCCACCTTT	0.448000													27	73					0	0	0.007291	0	0
PGBD1	84547	broad.mit.edu	37	6	28269230	28269230	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28269230C>T	ENST00000405948.2	+	7	2019	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	PGBD1_ENST00000259883.3_Silent_p.F533F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	533					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						ATAAAAATTTCCTCTTGTATG	0.348000													69	12					0	0	0.014410	0	0
SDK1	221935	broad.mit.edu	37	7	4107559	4107559	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4107559A>G	ENST00000404826.2	+	20	3140	c.3001A>G	c.(3001-3003)Atc>Gtc	p.I1001V	SDK1_ENST00000389531.3_Missense_Mutation_p.I1001V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1001	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAAAAATGGCATCATTACTGG	0.448000													4	12					0	0	0.000602	0	0
KRT33B	3884	broad.mit.edu	37	17	39525754	39525754	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39525754C>T	ENST00000251646.3	-	1	298	c.249G>A	c.(247-249)gaG>gaA	p.E83E		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	83	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTTCTCCAGCTCCGCGTTGT	0.607000													34	42					0	0	0.004289	0	0
PROX2	283571	broad.mit.edu	37	14	75330535	75330535	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:75330535C>T	ENST00000556084.2	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	PROX2_ENST00000556489.2_Start_Codon_SNP_p.M1I|PROX2_ENST00000445876.1_Start_Codon_SNP_p.M1I	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	1					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTTTGGATCCATCCCAGGCA	0.547000													32	28					0	0	0.006230	0	0
AXIN1	8312	broad.mit.edu	37	16	396889	396889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:396889G>A	ENST00000262320.3	-	2	508	c.137C>T	c.(136-138)tCc>tTc	p.S46F	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.S46F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	46					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|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	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	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD 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)				ACCTTTCCCGGAGCAGAAACT	0.627000													11	22					0	0	0.013537	0	0
DUOX2	50506	broad.mit.edu	37	15	45401027	45401027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:45401027G>A	ENST00000389039.6	-	12	1743	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	DUOX2_ENST00000603300.1_Missense_Mutation_p.P453L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	453	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGTTCCTTGGGATGTCCAG	0.522000													28	47					0	0	0.008361	0	0
GEMIN5	25929	broad.mit.edu	37	5	154275824	154275824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:154275824G>A	ENST00000285873.7	-	24	3500	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1142					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTAAGAGGAGGAGCTTTTGCC	0.542000													12	26					0	0	0.001855	0	0
POLR3B	55703	broad.mit.edu	37	12	106889893	106889893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:106889893C>T	ENST00000228347.4	+	24	2996	c.2774C>T	c.(2773-2775)cCg>cTg	p.P925L	RP11-144F15.1_ENST00000551505.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.P867L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	925					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGCATCTGTCCGGACATCATC	0.493000													50	87					0	0	0.014410	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592345	1592345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:1592345C>T	ENST00000279477.7	-	2	155	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SIRPB1_ENST00000568365.1_Missense_Mutation_p.E31K|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	31	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGCAGCTCTTCCTCGCCAGCT	0.512000													7	2					0	0	0.001984	0	0
SGCG	6445	broad.mit.edu	37	13	23869576	23869576	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23869576A>G	ENST00000218867.3	+	6	652	c.528A>G	c.(526-528)gaA>gaG	p.E176E	SGCG_ENST00000537476.1_Silent_p.E176E|SGCG_ENST00000545013.1_Silent_p.E176E	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	176					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTCTTTTTGAACATTCAGTGG	0.388000													58	76					0	0	0.014410	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778562	34778562	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:34778562C>T	ENST00000338074.2	+	11	1304	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	EPB41L1_ENST00000373941.1_Silent_p.P381P|EPB41L1_ENST00000441639.1_Silent_p.P319P|EPB41L1_ENST00000373946.3_Silent_p.P350P|EPB41L1_ENST00000373950.2_Silent_p.P284P|EPB41L1_ENST00000202028.5_Silent_p.P319P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	381					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCCCTGAGCCCCCACCCAAGG	0.642000													20	30					0	0	0.014323	0	0
STK26	51765	broad.mit.edu	37	X	131197486	131197486	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:131197486A>G	ENST00000394334.2	+	4	552	c.299A>G	c.(298-300)gAa>gGa	p.E100G	MST4_ENST00000394335.2_Missense_Mutation_p.E23G|MST4_ENST00000496850.1_Missense_Mutation_p.E100G|MST4_ENST00000481105.1_Missense_Mutation_p.E122G|MST4_ENST00000354719.6_Missense_Mutation_p.E100G	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		100	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATAATAATGGAATACCTGGGC	0.318000													32	5					0	0	0.005524	0	0
ZBED2	79413	broad.mit.edu	37	3	111312559	111312559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:111312559C>T	ENST00000317012.4	-	2	1498	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	164							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACTGCCCTTTCCCTCCTAAGC	0.607000													33	62					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179497991	179497991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179497991G>A	ENST00000589042.1	-	233	43233	c.43009C>T	c.(43009-43011)Cac>Tac	p.H14337Y	TTN_ENST00000359218.5_Missense_Mutation_p.H5397Y|TTN_ENST00000342175.6_Missense_Mutation_p.H5464Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H5272Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H11769Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H12696Y|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12696							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)			ATTTCAAAGTGGGCTGTTTCA	0.413000													39	50					0	0	0.008740	0	0
MYOM3	127294	broad.mit.edu	37	1	24398477	24398477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:24398477G>A	ENST00000330966.7	-	24	3160	c.2998C>T	c.(2998-3000)Cat>Tat	p.H1000Y	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.H999Y|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.H999Y			Q5VTT5	MYOM3_HUMAN	myomesin 3	999										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)		CTGATCTCATGACTCAGCTTC	0.557000													35	34					0	0	0.007835	0	0
ARFIP1	27236	broad.mit.edu	37	4	153750825	153750825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:153750825C>T	ENST00000451320.2	+	2	204	c.40C>T	c.(40-42)Cca>Tca	p.P14S	ARFIP1_ENST00000353617.2_Missense_Mutation_p.P14S|ARFIP1_ENST00000405727.2_Missense_Mutation_p.P14S|ARFIP1_ENST00000429148.2_Missense_Mutation_p.P14S|ARFIP1_ENST00000356064.3_Missense_Mutation_p.P14S			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	14					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCAGAAATTCCAGTGACTAG	0.363000													47	80					0	0	0.014410	0	0
TKTL2	84076	broad.mit.edu	37	4	164393635	164393635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:164393635C>T	ENST00000280605.3	-	1	1412	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	418						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGGAACCAATAAGGTTG	0.473000													7	25					0	0	0.001984	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	G	A	rs143629932		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141619380G>A	ENST00000548136.1	+	1	764	c.705G>A	c.(703-705)agG>agA	p.R235R	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000													40	54					0	0	0.014410	0	0
ACSL5	51703	broad.mit.edu	37	10	114177604	114177604	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:114177604G>A	ENST00000393081.1	+	14	1526	c.1218_splice	c.e14-1	p.D407_splice	ACSL5_ENST00000433418.1_Splice_Site_p.D407_splice|ACSL5_ENST00000354273.4_Splice_Site_p.D407_splice|ACSL5_ENST00000354655.4_Splice_Site_p.D407_splice|ACSL5_ENST00000369410.3_Splice_Site_p.D189_splice|ACSL5_ENST00000356116.1_Splice_Site_p.D463_splice|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	407					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACTGAACAGGACAGCCTGGG	0.483000													41	69					0	0	0.010771	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432921	104432921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:104432921C>T	ENST00000361820.3	-	3	2373	c.1773G>A	c.(1771-1773)atG>atA	p.M591I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	591					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCAAAGTTCATGTCTTCTG	0.448000													21	22					0	0	0.008871	0	0
PMF1	11243	broad.mit.edu	37	1	156203421	156203421	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:156203421G>A	ENST00000368277.3	+	3	279	c.270G>A	c.(268-270)gaG>gaA	p.E90E	PMF1_ENST00000368279.3_Silent_p.E90E|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000567140.1_Silent_p.E90E|PMF1_ENST00000565805.1_Silent_p.E90E|PMF1_ENST00000368273.4_Silent_p.E92E|PMF1-BGLAP_ENST00000490491.1_Silent_p.E90E|PMF1-BGLAP_ENST00000368276.4_Silent_p.E90E|PMF1-BGLAP_ENST00000320139.5_Silent_p.E90E	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CTCTTCAGGAGGAAATCTCTG	0.443000													60	233					0	0	0.014410	0	0
ZNF786	136051	broad.mit.edu	37	7	148768906	148768906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:148768906G>A	ENST00000316286.9	-	3	972	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	ZNF786_ENST00000451334.3_Missense_Mutation_p.R283W|ZNF786_ENST00000491431.1_Missense_Mutation_p.R320W			Q8N393	ZN786_HUMAN	zinc finger protein 786	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCCTCCCGGCTGTGCTGG	0.721000													3	5					0	0	0.009096	0	0
MSS51	118490	broad.mit.edu	37	10	75185684	75185684	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75185684C>T	ENST00000299432.2	-	5	1019	c.954G>A	c.(952-954)ctG>ctA	p.L318L	MSS51_ENST00000372912.1_Silent_p.L318L	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	318							zinc ion binding										TGCCAGGTTCCAGGGGTGAAG	0.542000													16	18					0	0	0.003163	0	0
WDR34	89891	broad.mit.edu	37	9	131397188	131397188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:131397188C>T	ENST00000372715.2	-	7	1054	c.994G>A	c.(994-996)Gag>Aag	p.E332K	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	332						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCTCGGTCTCCCCGCGGGGA	0.627000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.001168	0	0
EFNB3	1949	broad.mit.edu	37	17	7611453	7611453	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7611453C>T	ENST00000226091.2	+	2	697	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	100					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CCCCAAACCTCCTTCTCACTT	0.592000													52	82					0	0	0.014410	0	0
ZNF560	147741	broad.mit.edu	37	19	9578517	9578517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9578517G>A	ENST00000301480.4	-	10	1319	c.1106C>T	c.(1105-1107)aCc>aTc	p.T369I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	369					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						CCCAATGTGGGTTTGCATGTG	0.388000													36	54					0	0	0.006999	0	0
PDS5B	23047	broad.mit.edu	37	13	33344523	33344523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:33344523C>T	ENST00000315596.10	+	32	4075	c.3889C>T	c.(3889-3891)Ctt>Ttt	p.L1297F		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1297					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACCAAAACCTCTTGGTGGAGG	0.423000													14	20					0	0	0.003163	0	0
CLPB	81570	broad.mit.edu	37	11	72145343	72145343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:72145343G>A	ENST00000294053.3	-	1	349	c.176C>T	c.(175-177)tCg>tTg	p.S59L	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Missense_Mutation_p.S59L|CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000340729.5_Missense_Mutation_p.S59L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	59					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CAAGGCCGGCGATGTTCCAGG	0.697000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	103					0	0	0.014410	0	0
CD300E	342510	broad.mit.edu	37	17	72613400	72613400	+	Missense_Mutation	SNP	G	G	A	rs148103699		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:72613400G>A	ENST00000392619.1	-	2	361	c.326C>T	c.(325-327)cCg>cTg	p.P109L	CD300E_ENST00000328630.3_Missense_Mutation_p.P82L|CD300E_ENST00000426295.2_Missense_Mutation_p.P123L	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	82	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGAGCCTCCGGGTGGTCTCT	0.537000													78	61					0	0	0.014410	0	0
GC	2638	broad.mit.edu	37	4	72629585	72629585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:72629585C>T	ENST00000273951.8	-	5	885	c.542G>A	c.(541-543)aGt>aAt	p.S181N	GC_ENST00000504199.1_Missense_Mutation_p.S200N|GC_ENST00000513476.1_Missense_Mutation_p.S181N|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	181	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGAAAGATAACTCTTGGTGTA	0.368000													30	67					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179444752	179444752	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179444752C>A	ENST00000589042.1	-	318	67486	c.67262G>T	c.(67261-67263)gGa>gTa	p.G22421V	TTN_ENST00000359218.5_Missense_Mutation_p.G13481V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13356V|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780V|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20780	Ig-like 116.						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)			GTAGGATTTTCCCTCCTCCAA	0.443000													54	67					9.59449e-18	1.07328e-17	0.014410	1	0
DPPA2	151871	broad.mit.edu	37	3	109026920	109026920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:109026920G>A	ENST00000478945.1	-	6	863	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	206						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACAGGAATGGAACATGAATT	0.438000													16	33					0	0	0.004007	0	0
TDRKH	11022	broad.mit.edu	37	1	151755429	151755429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:151755429G>A	ENST00000368822.1	-	2	703	c.70C>T	c.(70-72)Cca>Tca	p.P24S	TDRKH_ENST00000458431.2_Missense_Mutation_p.P24S|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.P24S|TDRKH_ENST00000368827.6_Missense_Mutation_p.P24S|TDRKH_ENST00000368825.3_Missense_Mutation_p.P24S|TDRKH_ENST00000368824.3_Missense_Mutation_p.P24S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	24							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCACTGGCTGGGATCCCAAGG	0.468000													99	134					0	0	0.014410	0	0
VSTM4	196740	broad.mit.edu	37	10	50255061	50255061	+	Silent	SNP	C	C	T	rs142214220	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:50255061C>T	ENST00000332853.3	-	7	827	c.804G>A	c.(802-804)ccG>ccA	p.P268P		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	268						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TCAGCAGCTTCGGTTTATGGA	0.473000													98	149					0	0	0.014410	0	0
PEAR1	375033	broad.mit.edu	37	1	156883008	156883008	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:156883008C>T	ENST00000338302.3	+	20	2670	c.2445C>T	c.(2443-2445)caC>caT	p.H815H	PEAR1_ENST00000292357.7_Silent_p.H815H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	815	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTACAGTCACTACTACTCCA	0.607000													112	68					0	0	0.014410	0	0
FSHR	2492	broad.mit.edu	37	2	49190986	49190986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:49190986C>T	ENST00000406846.2	-	10	1093	c.974G>A	c.(973-975)gGa>gAa	p.G325E	FSHR_ENST00000541117.1_Missense_Mutation_p.G61E|FSHR_ENST00000346173.3_Missense_Mutation_p.G263E|FSHR_ENST00000304421.4_Missense_Mutation_p.G299E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	325					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)	CATGTCAAATCCTCTGCTGTA	0.443000									Gonadal Dysgenesis, 46 XX				47	73					0	0	0.014410	0	0
PCNT	5116	broad.mit.edu	37	21	47831873	47831873	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:47831873C>T	ENST00000359568.5	+	28	5993	c.5886C>T	c.(5884-5886)ccC>ccT	p.P1962P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1962					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACGGGTGCCCGGGGCCCACC	0.697000													7	7					0	0	0.003080	0	0
PROX2	283571	broad.mit.edu	37	14	75330053	75330053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:75330053C>T	ENST00000556084.2	-	1	484	c.485G>A	c.(484-486)gGg>gAg	p.G162E	PROX2_ENST00000556489.2_Missense_Mutation_p.G162E|PROX2_ENST00000445876.1_Missense_Mutation_p.G162E	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	162					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCCTCCTGGCCCCTGAGCTGT	0.607000													23	26					0	0	0.014323	0	0
TLR5	7100	broad.mit.edu	37	1	223285080	223285080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223285080C>T	ENST00000540964.1	-	4	1755	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	TLR5_ENST00000342210.6_Missense_Mutation_p.E432K			O60602	TLR5_HUMAN	toll-like receptor 5	432			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCCTGTTTTCTGATAAGTGG	0.393000													53	51					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141732641	141732641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141732641C>T	ENST00000475668.2	+	14	1655	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	MGAM_ENST00000549489.2_Missense_Mutation_p.S534F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	534	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATGAAGTCTCCAACTTTGTT	0.363000													5	12					0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	89938520	89938520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:89938520G>A	ENST00000405460.2	+	12	2404	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	770					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGGAAAATGATGACCCTGG	0.408000													45	74					0	0	0.013114	0	0
NF1	4763	broad.mit.edu	37	17	29654858	29654858	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:29654858G>A	ENST00000358273.4	+	38	5992		c.e38+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAGTTTACGGTAGGTTTTTT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	36					0	0	0.008871	0	0
HTR3A	3359	broad.mit.edu	37	11	113860336	113860336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:113860336G>A	ENST00000504030.2	+	9	1733	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	HTR3A_ENST00000535865.1_Missense_Mutation_p.E174K|HTR3A_ENST00000355556.2_Missense_Mutation_p.E468K|HTR3A_ENST00000506841.2_Missense_Mutation_p.E462K|HTR3A_ENST00000375498.2_Missense_Mutation_p.E436K|HTR3A_ENST00000299961.5_Missense_Mutation_p.E415K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	430	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCAATTCCTGGAAAAGCGGGA	0.647000													33	22					0	0	0.003271	0	0
LTBP1	4052	broad.mit.edu	37	2	33335741	33335741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:33335741G>A	ENST00000404816.2	+	4	1309	c.956G>A	c.(955-957)gGg>gAg	p.G319E	LTBP1_ENST00000354476.3_Missense_Mutation_p.G319E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	319					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCCAGAAGGGGATTTCAGGA	0.493000													61	51					0	0	0.014410	0	0
MCM3	4172	broad.mit.edu	37	6	52143544	52143544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52143544G>A	ENST00000596288.1	-	6	1037	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	MCM3_ENST00000419835.2_Missense_Mutation_p.S246F|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.S292F	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	292	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCAGACCTTGGATCGGGTTTT	0.438000													33	36					0	0	0.006230	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030954	58030954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:58030954C>T	ENST00000556826.1	-	8	1593	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	SLC35F4_ENST00000339762.6_Missense_Mutation_p.E489K|SLC35F4_ENST00000554729.1_Missense_Mutation_p.E330K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCTTCTTTTCCTTCAGGCTG	0.522000													7	11					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55755479	55755479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55755479C>T	ENST00000373965.2	-	22	3213	c.2819G>A	c.(2818-2820)gGg>gAg	p.G940E	PCDH15_ENST00000414778.1_Missense_Mutation_p.G938E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G933E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G862E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G544E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G911E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G940E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G933E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G933E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G896E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G933E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G933E|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	933	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			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)				AGCCACCATCCCTTTGTATAT	0.398000										HNSCC(58;0.16)			22	26					0	0	0.010504	0	0
MSGN1	343930	broad.mit.edu	37	2	17997862	17997862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:17997862C>T	ENST00000281047.3	+	1	100	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	26					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCTGTCTTCCTGGGACTGG	0.602000													17	38					0	0	0.004990	0	0
C14orf80	283643	broad.mit.edu	37	14	105960205	105960205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105960205C>T	ENST00000392523.4	+	5	740	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	C14orf80_ENST00000450383.1_Nonsense_Mutation_p.Q29*|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000392522.3_Nonsense_Mutation_p.Q207*|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000329886.7_Intron			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	207										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCACAGCGACCAGAGCCTTAG	0.632000													7	11					0	0	0.010729	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28737418C>T	ENST00000257197.3	-	3	528	c.267G>A	c.(265-267)agG>agA	p.R89R	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.R89R	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	89					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)			AAAAACTTTTCCTTTCAGAAG	0.428000													22	31					0	0	0.014323	0	0
ADAM30	11085	broad.mit.edu	37	1	120438854	120438854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120438854C>T	ENST00000369400.1	-	1	264	c.106G>A	c.(106-108)Ggg>Agg	p.G36R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	36					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G36W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCAAACTCCCCTTCAGGGTGA	0.502000													213	296					0	0	0.014410	0	0
RPE65	6121	broad.mit.edu	37	1	68910229	68910229	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:68910229C>T	ENST00000262340.5	-	5	533	c.480G>A	c.(478-480)ttG>ttA	p.L160L		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	160					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAATTGTCTCCAAGGTCTCTG	0.388000													36	58					0	0	0.006999	0	0
KLK3	354	broad.mit.edu	37	19	51361525	51361525	+	Silent	SNP	G	G	A	rs147547638	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51361525G>A	ENST00000360617.3	+	3	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLK3_ENST00000326003.2_Silent_p.G149G|KLK3_ENST00000597483.1_Silent_p.G106G|KLK3_ENST00000593997.1_Silent_p.G149G|KLK3_ENST00000595952.1_Silent_p.G106G			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	149	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.652000													24	27					0	0	0.002780	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486747	25486747	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:25486747C>T	ENST00000453082.2	+	0	2066					NR_003343.1																						CCCACTTTTCCTGGGCCAGTG	0.597000													7	13					0	0	0.001984	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036293	60036293	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:60036293G>A	ENST00000586569.1	+	9	1181	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	381					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGAGGTGGGGGAGAATGACA	0.552000													21	22					0	0	0.002780	0	0
VPS41	27072	broad.mit.edu	37	7	38785191	38785191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:38785191C>T	ENST00000310301.4	-	23	2003	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K	VPS41_ENST00000395969.2_Missense_Mutation_p.R625K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	650					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TACAAAGTTTCTCTGTTGACA	0.328000													38	58					0	0	0.011902	0	0
PAPPA	5069	broad.mit.edu	37	9	118997703	118997703	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118997703C>G	ENST00000328252.3	+	7	2888	c.2519C>G	c.(2518-2520)aCc>aGc	p.T840S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	840					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTCCCACTGACCATCAGACTC	0.532000													8	14					0	0	0.004482	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576424	33576424	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:33576424A>G	ENST00000504830.1	-	19	4042	c.3707T>C	c.(3706-3708)gTt>gCt	p.V1236A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1151A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1236	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCCCCTCAACTCTGGGTGT	0.577000										HNSCC(64;0.19)			42	54					0	0	0.007835	0	0
PVRL4	81607	broad.mit.edu	37	1	161044516	161044516	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161044516C>T	ENST00000368012.3	-	5	1187	c.885G>A	c.(883-885)gtG>gtA	p.V295V	PVRL4_ENST00000453926.2_Silent_p.V29V	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTCCCCATCCACTCGTACCC	0.602000													12	44					0	0	0.002450	0	0
STAT5A	6776	broad.mit.edu	37	17	40456592	40456592	+	Silent	SNP	C	C	T	rs150767426		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:40456592C>T	ENST00000345506.4	+	12	1944	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	STAT5A_ENST00000590949.1_Silent_p.S434S|STAT5A_ENST00000588868.1_Silent_p.S434S|STAT5A_ENST00000452307.2_Silent_p.S434S|STAT5A_ENST00000546010.2_Silent_p.S404S	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	434					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTGCAGAGTCCGTGACAGAGG	0.582000													17	43					0	0	0.004007	0	0
POLG	5428	broad.mit.edu	37	15	89867055	89867055	+	Silent	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:89867055G>T	ENST00000268124.5	-	12	2481	c.2148C>A	c.(2146-2148)ccC>ccA	p.P716P	POLG_ENST00000442287.2_Silent_p.P716P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	716					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGAGCTAGGGGTTGACCTG	0.572000								DNA polymerases (catalytic subunits)					21	41					5.35356e-11	5.96117e-11	0.002780	1	0
CXADR	1525	broad.mit.edu	37	21	18937815	18937815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:18937815C>T	ENST00000400166.1	+	5	725	c.641C>T	c.(640-642)cCc>cTc	p.P214L	CXADR_ENST00000400165.1_Missense_Mutation_p.P162L|CXADR_ENST00000284878.7_Silent_p.S301S|CXADR_ENST00000306618.10_Silent_p.S260S|CXADR_ENST00000400169.1_Silent_p.S301S	NM_001207063.1	NP_001193992.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	0	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATCATTCATCCCTGGGGTCCA	0.488000													30	40					0	0	0.007291	0	0
PPOX	5498	broad.mit.edu	37	1	161140536	161140536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161140536C>T	ENST00000367999.4	+	11	1491	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Missense_Mutation_p.H117Y|PPOX_ENST00000535223.1_Missense_Mutation_p.H72Y|PPOX_ENST00000432542.2_Missense_Mutation_p.H154Y|PPOX_ENST00000352210.5_Missense_Mutation_p.H409Y	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	409					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATGCCGAGCCACTGCTTGGT	0.507000													87	23					0	0	0.014410	0	0
NRG3	10718	broad.mit.edu	37	10	84745329	84745329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:84745329G>A	ENST00000372142.2	+	11	1742	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	NRG3_ENST00000556918.1_Missense_Mutation_p.E517K|NRG3_ENST00000545131.1_Missense_Mutation_p.E337K|NRG3_ENST00000404576.2_Missense_Mutation_p.E491K|NRG3_ENST00000372141.2_Missense_Mutation_p.E687K|NRG3_ENST00000537893.1_Missense_Mutation_p.E337K|NRG3_ENST00000404547.1_Missense_Mutation_p.E711K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	711					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E687K(1)|p.E490K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTTAAGAAATGAAATACAAAG	0.438000													18	36					0	0	0.007413	0	0
FRY	10129	broad.mit.edu	37	13	32722017	32722017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32722017C>T	ENST00000380250.3	+	13	1821	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	442					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)		CCCAAAGGGTCCCGCGGTGTG	0.463000													56	54					0	0	0.014410	0	0
MAS1	4142	broad.mit.edu	37	6	160328869	160328869	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:160328869C>T	ENST00000252660.4	+	1	896	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	294					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCAAGGAGTCCTTAAAAGTTG	0.438000													34	14					0	0	0.003755	0	0
DEFB112	245915	broad.mit.edu	37	6	50011502	50011502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:50011502C>T	ENST00000322246.4	-	2	127	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	43					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GATATGGTGCCCTTCACTTCT	0.408000													34	31					0	0	0.004878	0	0
RYR3	6263	broad.mit.edu	37	15	33895388	33895388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:33895388G>A	ENST00000389232.4	+	18	2057	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	RYR3_ENST00000415757.3_Missense_Mutation_p.E663K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	663	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E663K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGTACTTCGAGCTGATTAT	0.567000													48	78					0	0	0.014410	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793439	49793439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:49793439C>T	ENST00000335875.4	-	12	2393	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	718						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGAATTTCTTCCTTTTGAACC	0.438000													62	60					0	0	0.014410	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529656	6529656	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:6529656G>A	ENST00000377748.1	-	18	2609	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PLEKHG5_ENST00000377728.3_Silent_p.I627I|PLEKHG5_ENST00000377725.1_Silent_p.I627I|PLEKHG5_ENST00000377732.1_Silent_p.I664I|PLEKHG5_ENST00000377737.2_Silent_p.I627I|PLEKHG5_ENST00000377740.3_Silent_p.I704I|PLEKHG5_ENST00000535355.1_Silent_p.I696I|PLEKHG5_ENST00000544978.1_Silent_p.I627I|PLEKHG5_ENST00000537245.1_Silent_p.I706I|PLEKHG5_ENST00000340850.5_Silent_p.I627I|PLEKHG5_ENST00000400915.3_Silent_p.I683I|PLEKHG5_ENST00000400913.1_Silent_p.I627I	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	683	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGGCCTGATGACCCTGG	0.607000													25	41					0	0	0.003330	0	0
GPR98	84059	broad.mit.edu	37	5	90024619	90024619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:90024619C>T	ENST00000405460.2	+	49	10391	c.10295C>T	c.(10294-10296)tCc>tTc	p.S3432F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3432					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTAAACTCCCTTTTATTC	0.478000													31	30					0	0	0.007291	0	0
SSMEM1	136263	broad.mit.edu	37	7	129847778	129847778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:129847778G>A	ENST00000297819.3	+	1	79	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		CTTATTTTGGGAGGTAGATCC	0.433000													47	47					0	0	0.014410	0	0
FRMPD3	84443	broad.mit.edu	37	X	106789034	106789034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:106789034G>A	ENST00000276185.4	+	6	464	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	FRMPD3_ENST00000477796.1_3'UTR|FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	155						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTGAAGGTTCGATTTTCTGAG	0.512000													19	5					0	0	0.010504	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750678	10750678	+	RNA	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:10750678C>T	ENST00000510134.2	-	0	278																				breast(1)|large_intestine(1)|lung(1)	3						TGAGTATCATCAGGCCTTAAT	0.368000													72	132					0	0	0.014410	0	0
CDH16	1014	broad.mit.edu	37	16	66944308	66944308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:66944308G>T	ENST00000299752.4	-	15	2215	c.2022C>A	c.(2020-2022)taC>taA	p.Y674*	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000568632.1_Nonsense_Mutation_p.Y577*|CDH16_ENST00000394055.3_Nonsense_Mutation_p.Y652*|CDH16_ENST00000570262.1_Nonsense_Mutation_p.Y594*	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	674	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCAGAGGTATTGGGAGG	0.627000													33	38					1.30998e-17	1.46428e-17	0.005524	1	0
SALL4	57167	broad.mit.edu	37	20	50408550	50408550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:50408550C>T	ENST00000217086.4	-	2	583	c.472G>A	c.(472-474)Gag>Aag	p.E158K	SALL4_ENST00000395997.3_Missense_Mutation_p.E158K|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	158					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGCTGTCTCTGTCTTTAGG	0.567000													165	124					0	0	0.014410	0	0
NAA40	79829	broad.mit.edu	37	11	63721833	63721833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:63721833C>T	ENST00000377793.4	+	8	697	c.596C>T	c.(595-597)cCc>cTc	p.P199L	NAA40_ENST00000539656.1_Missense_Mutation_p.P86L|NAA40_ENST00000542163.1_Missense_Mutation_p.P178L|NAA40_ENST00000456907.2_Missense_Mutation_p.P159L	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	199	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GACTCTTCCCCCAGCATGTCC	0.582000													12	24					0	0	0.013537	0	0
PNPLA6	10908	broad.mit.edu	37	19	7605065	7605065	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7605065C>T	ENST00000221249.6	+	8	899	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PNPLA6_ENST00000545201.2_Silent_p.F156F|PNPLA6_ENST00000450331.3_Silent_p.F156F|PNPLA6_ENST00000414982.3_Silent_p.F204F|PNPLA6_ENST00000600737.1_Silent_p.F195F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	195					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCACTCTTCCTGGAGCTCT	0.682000													29	37					0	0	0.003755	0	0
LRRC55	219527	broad.mit.edu	37	11	56954765	56954765	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:56954765C>T	ENST00000497933.1	+	2	984	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	249						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGAGGGCGCCCCGCTCTTCT	0.597000													48	56					0	0	0.014410	0	0
CXorf36	79742	broad.mit.edu	37	X	45059862	45059862	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:45059862C>T	ENST00000398000.2	-	1	284	c.210G>A	c.(208-210)aaG>aaA	p.K70K	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.K70K|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	70						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TAAAGAACTTCTTGCAAATAG	0.383000													20	4					0	0	0.014323	0	0
USHBP1	83878	broad.mit.edu	37	19	17373662	17373662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:17373662C>T	ENST00000252597.3	-	4	514	c.341G>A	c.(340-342)gGg>gAg	p.G114E	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.G50E	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	114							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						ATCGGGGGCCCCATTCCCAGG	0.662000													42	57					0	0	0.006999	0	0
ZFP3	124961	broad.mit.edu	37	17	4995940	4995940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4995940C>T	ENST00000318833.3	+	2	1477	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CTCAGAACTTCTTAGACATGA	0.438000													19	27					0	0	0.008871	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													31	43					0	0	0.013726	0	0
FLG2	388698	broad.mit.edu	37	1	152323795	152323795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152323795C>T	ENST00000388718.5	-	3	6539	c.6467G>A	c.(6466-6468)aGa>aAa	p.R2156K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2156							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCATGTCTAGTGGTATC	0.502000													112	421					0	0	0.014410	0	0
LIPI	149998	broad.mit.edu	37	21	15561684	15561684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:15561684C>T	ENST00000344577.2	-	2	191	c.166G>A	c.(166-168)Gat>Aat	p.D56N	LIPI_ENST00000536861.1_Missense_Mutation_p.D35N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	35					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAATCTCTGAAGGAA	0.353000													35	41					0	0	0.004289	0	0
COL21A1	81578	broad.mit.edu	37	6	55933915	55933915	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:55933915C>T	ENST00000244728.5	-	22	2417	c.2019_splice	c.e22-1	p.G674_splice	COL21A1_ENST00000535941.1_Splice_Site_p.G674_splice|COL21A1_ENST00000370819.1_Splice_Site_p.G671_splice|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Splice_Site_p.G74_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	674	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGTTCTCCCTATGTAACA	0.408000													10	13					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237778111	237778111	+	Nonsense_Mutation	SNP	C	C	T	rs79660660		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:237778111C>T	ENST00000366574.2	+	37	6000	c.5683C>T	c.(5683-5685)Caa>Taa	p.Q1895*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q1893*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q1879*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1895	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCCTGCTCCAAATGAAACT	0.483000													42	39					0	0	0.014410	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051340	38051340	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:38051340C>T	ENST00000261439.4	+	11	2086	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	TBC1D1_ENST00000508802.1_Silent_p.L577L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	577						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGTCATCTCCCAGAAGAGC	0.592000													35	41					0	0	0.003271	0	0
RAB5C	5878	broad.mit.edu	37	17	40280339	40280339	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:40280339G>A	ENST00000393860.3	-	5	697	c.381C>T	c.(379-381)atC>atT	p.I127I	CTD-2132N18.3_ENST00000592574.1_Silent_p.I127I|RAB5C_ENST00000547517.1_Silent_p.I160I|RAB5C_ENST00000346213.4_Silent_p.I127I	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	127					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTGCAATGACGATGTTGGGGC	0.567000													51	69					0	0	0.014410	0	0
TM4SF5	9032	broad.mit.edu	37	17	4685877	4685877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4685877G>A	ENST00000270560.3	+	3	369	c.338G>A	c.(337-339)cGa>cAa	p.R113Q		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	113						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCTGGGCTCCGAAATGGACCC	0.577000													18	37					0	0	0.007413	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558091	36558091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:36558091C>T	ENST00000373178.4	+	5	800	c.770C>T	c.(769-771)tCg>tTg	p.S257L		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	257						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GACCAGGCATCGGTGACCAGG	0.582000													22	49					0	0	0.006320	0	0
NEB	4703	broad.mit.edu	37	2	152550915	152550915	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152550915C>T	ENST00000397345.3	-	20	2020	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	NEB_ENST00000409198.1_Silent_p.G606G|NEB_ENST00000427231.2_Silent_p.G606G|NEB_ENST00000604864.1_Silent_p.G606G|NEB_ENST00000172853.10_Silent_p.G606G|NEB_ENST00000603639.1_Silent_p.G606G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	606					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATCATTTTCCCTTTGTTTT	0.443000													72	88					0	0	0.014410	0	0
PRSS12	8492	broad.mit.edu	37	4	119203249	119203249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:119203249C>T	ENST00000296498.3	-	13	2752	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	824	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCTCCGCTGTCTCCCTGGCAG	0.542000													29	37					0	0	0.008361	0	0
ERCC4	2072	broad.mit.edu	37	16	14041765	14041765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:14041765C>T	ENST00000311895.7	+	11	2321	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	771	Interaction with EME1 and ERCC1.				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						TCTCTCACTTCCCGAGGTGCC	0.522000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				43	67					0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117749355	117749355	+	Silent	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:117749355C>A	ENST00000317775.6	-	3	1453	c.768G>T	c.(766-768)gtG>gtT	p.V256V	NOS1_ENST00000344089.3_Silent_p.V256V|NOS1_ENST00000338101.4_Silent_p.V256V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	256					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTCGTTCTCCACGCCGAGGG	0.557000													24	38					3.28513e-13	3.66079e-13	0.003954	1	0
MTUS1	57509	broad.mit.edu	37	8	17513392	17513392	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:17513392T>C	ENST00000381869.3	-	8	3399	c.2926A>G	c.(2926-2928)Aaa>Gaa	p.K976E	MTUS1_ENST00000519263.1_Missense_Mutation_p.K976E|MTUS1_ENST00000262102.6_Missense_Mutation_p.K1030E|MTUS1_ENST00000297488.6_Missense_Mutation_p.K196E|MTUS1_ENST00000400046.1_Missense_Mutation_p.K102E|MTUS1_ENST00000544260.1_Missense_Mutation_p.K175E|MTUS1_ENST00000381861.3_Missense_Mutation_p.K277E|MTUS1_ENST00000518713.1_5'UTR	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1030						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTGCATTTTGTACTTCTCT	0.453000													34	45					0	0	0.005524	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664701	88664701	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:88664701C>T	ENST00000301011.5	+	4	1004	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZC3H18_ENST00000452588.2_Silent_p.L292L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	268	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537000													38	58					0	0	0.008740	0	0
KLHL8	57563	broad.mit.edu	37	4	88106875	88106875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:88106875G>A	ENST00000273963.5	-	3	634	c.293C>T	c.(292-294)tCt>tTt	p.S98F	KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.S98F	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	98	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGCCATTTCAGAAAGAAACAT	0.398000													5	13					0	0	0.001168	0	0
CDH13	1012	broad.mit.edu	37	16	83712034	83712034	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:83712034G>A	ENST00000566620.1	+	10	1796	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	CDH13_ENST00000268613.10_Silent_p.T549T|CDH13_ENST00000428848.3_Silent_p.T463T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	502	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAATGCCACGGACCCCGACT	0.602000													18	19					0	0	0.004990	0	0
GNA15	2769	broad.mit.edu	37	19	3150255	3150255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:3150255G>A	ENST00000262958.3	+	3	715	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	153					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCGTCGGCGGGAATTCCACCT	0.657000													45	60					0	0	0.014410	0	0
ATP8A1	10396	broad.mit.edu	37	4	42627695	42627695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:42627695C>T	ENST00000381668.5	-	3	431	c.200G>A	c.(199-201)aGa>aAa	p.R67K	ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Missense_Mutation_p.R67K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	67					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAGAGAAATCTTGGAAGGAA	0.348000													15	13					0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82585618	82585618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:82585618C>T	ENST00000423517.2	-	5	4988	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1551K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1482					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						TCCTCCTCTTCCCCTGATCCT	0.413000													31	46					0	0	0.009535	0	0
E2F1	1869	broad.mit.edu	37	20	32267568	32267568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:32267568G>A	ENST00000343380.5	-	3	704	c.565C>T	c.(565-567)Cag>Tag	p.Q189*		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	189					apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TACAGCCACTGGATGTGGTTC	0.597000													31	39					0	0	0.005524	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966269	41966269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:41966269G>A	ENST00000298919.7	+	10	1296	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R305Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R563Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	563	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding	p.R305Q(1)|p.R563Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAGCTTGCGAAATGATGAG	0.493000													5	15					0	0	0.000602	0	0
VN1R1	57191	broad.mit.edu	37	19	57967429	57967429	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57967429G>A	ENST00000321039.3	-	1	425	c.426C>T	c.(424-426)ctC>ctT	p.L142L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	142					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGAATCCATTGAGAAGGCAGA	0.428000													32	47					0	0	0.013726	0	0
RBM27	54439	broad.mit.edu	37	5	145643114	145643114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:145643114C>T	ENST00000265271.5	+	14	2417	c.2251C>T	c.(2251-2253)Cgt>Tgt	p.R751C	RBM27_ENST00000506502.1_Missense_Mutation_p.R696C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	751					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTAAACATCGTCTTGGACA	0.418000													35	54					0	0	0.004878	0	0
COL8A1	1295	broad.mit.edu	37	3	99513517	99513517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:99513517G>A	ENST00000261037.3	+	5	1152	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G258R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	258	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGGCCTCCAGGGATGCACGG	0.662000													40	68					0	0	0.009718	0	0
ARVCF	421	broad.mit.edu	37	22	19965018	19965018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:19965018G>A	ENST00000263207.3	-	9	2081	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	ARVCF_ENST00000401994.1_Missense_Mutation_p.P534L|ARVCF_ENST00000406522.1_Missense_Mutation_p.P534L|ARVCF_ENST00000406259.1_Missense_Mutation_p.P597L|ARVCF_ENST00000344269.3_Missense_Mutation_p.P534L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	597					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGGGCCCGGGCTCGGCCTC	0.677000													30	46					0	0	0.009535	0	0
USP32	84669	broad.mit.edu	37	17	58300851	58300851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:58300851C>T	ENST00000300896.4	-	14	1723	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	USP32_ENST00000592339.1_Missense_Mutation_p.G180E	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	510	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAAAATATTCCCATTGGCTCC	0.408000													29	101					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179474049C>T	ENST00000589042.1	-	273	52212	c.51988G>A	c.(51988-51990)Gga>Aga	p.G17330R	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8390R|TTN_ENST00000342175.6_Missense_Mutation_p.G8457R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8265R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14762R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15689R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15689	Fibronectin type-III 25.						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)			TGAGATTCTCCCTTTTTGCTG	0.463000													12	27					0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	89979669	89979669	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:89979669G>A	ENST00000405460.2	+	28	6027	c.5931G>A	c.(5929-5931)ggG>ggA	p.G1977G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1977					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCCATATGGGATATTCATTT	0.398000													17	26					0	0	0.006122	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111846	3111846	+	Silent	SNP	G	G	A	rs139713716		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:3111846G>A	ENST00000263650.7	-	20	2499	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	OSBPL5_ENST00000542243.1_Silent_p.S411S|OSBPL5_ENST00000389989.3_Silent_p.S712S|OSBPL5_ENST00000478260.1_Silent_p.S234S|OSBPL5_ENST00000525498.1_Silent_p.S691S|OSBPL5_ENST00000348039.5_Silent_p.S712S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	780					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ACTCAGGCGTGGATCCGCTGC	0.667000													21	28					0	0	0.014323	0	0
PALM	5064	broad.mit.edu	37	19	746457	746457	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:746457C>T	ENST00000264560.7	+	8	869	c.675C>T	c.(673-675)tcC>tcT	p.S225S	PALM_ENST00000338448.5_Silent_p.S269S|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	269					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCACGCCCTCCCGGCGGGAGA	0.736000													9	8					0	0	0.004482	0	0
NLRP3	114548	broad.mit.edu	37	1	247588406	247588406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247588406C>T	ENST00000366497.2	+	4	2441	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	NLRP3_ENST00000366496.2_Missense_Mutation_p.P554L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P554L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P554L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P554L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.P554L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	554					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGAAGCTTCCCAGCCGAGAC	0.478000													11	62					0	0	0.008291	0	0
ABCC10	89845	broad.mit.edu	37	6	43412968	43412968	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:43412968C>T	ENST00000244533.3	+	12	3221	c.2862C>T	c.(2860-2862)acC>acT	p.T954T	ABCC10_ENST00000372530.4_Silent_p.T982T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	982	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTCTGCACCCTTCTCCGGG	0.592000													43	37					0	0	0.014410	0	0
MYO16	23026	broad.mit.edu	37	13	109793523	109793523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:109793523C>T	ENST00000356711.2	+	32	5023	c.4897C>T	c.(4897-4899)Ccc>Tcc	p.P1633S	MYO16_ENST00000357550.2_Missense_Mutation_p.P1633S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1633	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP 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)			CAGCTCCTTCCCCAAGATCCC	0.716000													13	19					0	0	0.004007	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407653	36407653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:36407653C>T	ENST00000405275.2	+	11	1109	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.S64F|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.S316F|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.S129F			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	316					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTTTGATTCCCTCTGCTCC	0.478000													24	31					0	0	0.003330	0	0
ZNF644	84146	broad.mit.edu	37	1	91382389	91382389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:91382389G>A	ENST00000370440.1	-	6	4167	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	ZNF644_ENST00000337393.5_Missense_Mutation_p.S1317L|ZNF644_ENST00000347275.5_Missense_Mutation_p.S95L|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000361321.5_Missense_Mutation_p.S95L			Q9H582	ZN644_HUMAN	zinc finger protein 644	1317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAGAGAAAATGAAGTTTCTGT	0.383000													20	28					0	0	0.007413	0	0
MUC13	56667	broad.mit.edu	37	3	124627080	124627080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:124627080G>A	ENST00000311075.3	-	11	1488	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	484						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTGACCTTAGGAAAGACGCTC	0.488000													24	28					0	0	0.003954	0	0
MAP6	4135	broad.mit.edu	37	11	75299100	75299100	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:75299100C>T	ENST00000304771.3	-	4	2196	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.L153L|MAP6_ENST00000526689.1_5'UTR	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	482						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTTGCTTCTTCAGAGGCTCTT	0.522000													58	24					0	0	0.014410	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47570183	47570183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:47570183C>T	ENST00000371917.4	+	6	694	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	232					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAGTTCGTTCGTTTGAAGCA	0.473000													30	47					0	0	0.007291	0	0
FBXW7	55294	broad.mit.edu	37	4	153251903	153251903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:153251903C>T	ENST00000281708.4	-	7	2332	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	FBXW7_ENST00000263981.5_Missense_Mutation_p.G288E|FBXW7_ENST00000296555.5_Missense_Mutation_p.G250E|FBXW7_ENST00000393956.3_Missense_Mutation_p.G192E|FBXW7_ENST00000603548.1_Missense_Mutation_p.G368E|FBXW7_ENST00000603841.1_Missense_Mutation_p.G368E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	368					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTGAGTTCTCCTCGCCTCCA	0.388000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	88					0	0	0.001168	0	0
GPR101	83550	broad.mit.edu	37	X	136113015	136113015	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:136113015C>T	ENST00000298110.1	-	1	818	c.819G>A	c.(817-819)aaG>aaA	p.K273K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TTCTGCCCTCCTTGGCCTTGA	0.577000													74	15					0	0	0.014410	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461461	10461461	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:10461461A>G	ENST00000503804.1	+	5	1104	c.583A>G	c.(583-585)Aag>Gag	p.K195E	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.K195E			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	195					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TGCCTCTCTAAAGGAAAATAT	0.453000													43	56					0	0	0.014410	0	0
CHD4	1108	broad.mit.edu	37	12	6697065	6697065	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:6697065G>A	ENST00000309577.6	-	24	3679	c.3516C>T	c.(3514-3516)taC>taT	p.Y1172Y	CHD4_ENST00000357008.2_Silent_p.Y1172Y|CHD4_ENST00000544040.1_Silent_p.Y1165Y|CHD4_ENST00000544484.1_Silent_p.Y1169Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1172	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACAAACCGGTAGATCATTA	0.512000													34	32					0	0	0.010818	0	0
BRINP2	57795	broad.mit.edu	37	1	177225097	177225097	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:177225097G>A	ENST00000361539.4	+	3	624	c.312G>A	c.(310-312)agG>agA	p.R104R		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTCTGGAAAGGAAGGACTTCT	0.498000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	125					0	0	0.012213	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307026	120307026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120307026C>T	ENST00000369406.3	-	2	377	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.V110M	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	110					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGCCGTTGCACCACCGTCAGG	0.542000													235	411					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78362305	78362305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:78362305G>A	ENST00000397909.2	+	5	667	c.494G>A	c.(493-495)aGa>aAa	p.R165K	NAV3_ENST00000536525.2_Missense_Mutation_p.R165K|NAV3_ENST00000228327.6_Missense_Mutation_p.R165K|NAV3_ENST00000266692.7_Missense_Mutation_p.R165K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	165	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGAAATAAGAAATGGAAAC	0.308000										HNSCC(70;0.22)			16	37					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13864608	13864608	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13864608C>T	ENST00000265104.4	-	28	4598	c.4494G>A	c.(4492-4494)agG>agA	p.R1498R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1498	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGTGGTTATCCTTTCCCAGT	0.458000									Kartagener syndrome				17	31					0	0	0.004990	0	0
CNTN6	27255	broad.mit.edu	37	3	1414564	1414564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:1414564C>T	ENST00000446702.2	+	14	2338	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.H571Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.H499Y			Q9UQ52	CNTN6_HUMAN	contactin 6	571	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	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)		TCAGTTACATCATTCAGGAAA	0.368000													42	52					0	0	0.013114	0	0
DENND4B	9909	broad.mit.edu	37	1	153905487	153905487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:153905487G>A	ENST00000361217.4	-	22	3891	c.3473C>T	c.(3472-3474)tCc>tTc	p.S1158F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1158	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGGCACAGGGAGCAGCTGGA	0.617000													35	104					0	0	0.007835	0	0
NR5A2	2494	broad.mit.edu	37	1	200008808	200008808	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:200008808C>T	ENST00000367362.3	+	2	333	c.87C>T	c.(85-87)caC>caT	p.H29H	NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	29					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGGACCGACACGGATCCCCCA	0.647000													29	135					0	0	0.012213	0	0
UMOD	7369	broad.mit.edu	37	16	20362109	20362109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:20362109G>A	ENST00000396138.4	-	2	164	c.98C>T	c.(97-99)tCc>tTc	p.S33F	UMOD_ENST00000302509.4_Intron|UMOD_ENST00000570689.1_Intron|UMOD_ENST00000424589.1_Intron|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000396142.2_5'UTR			P07911	UROM_HUMAN	uromodulin	0	EGF-like 1.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGCCCAAAGGAAAGACGGGT	0.517000													9	20					0	0	0.004482	0	0
NNMT	4837	broad.mit.edu	37	11	114168756	114168756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:114168756G>A	ENST00000535401.1	+	4	502	c.238G>A	c.(238-240)Gag>Aag	p.E80K	NNMT_ENST00000299964.3_Missense_Mutation_p.E80K|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	80					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCCTTTAAGGAGATCGTCGT	0.537000													31	17					0	0	0.013726	0	0
OBSCN	84033	broad.mit.edu	37	1	228559597	228559597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:228559597G>A	ENST00000570156.2	+	105	24063	c.23989G>A	c.(23989-23991)Ggt>Agt	p.G7997S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G7040S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4674S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7040					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCAAGCAGGGTTCTGCCCC	0.672000													11	36					0	0	0.008291	0	0
CLVS2	134829	broad.mit.edu	37	6	123318986	123318986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:123318986G>A	ENST00000275162.4	+	2	1399	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	22					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGAGCTCAATGAAAACCCAGA	0.542000													21	7					0	0	0.010504	0	0
CCDC14	64770	broad.mit.edu	37	3	123634533	123634533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:123634533G>A	ENST00000485727.1	-	9	5947	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	CCDC14_ENST00000489746.1_Missense_Mutation_p.S452F|CCDC14_ENST00000488653.2_Missense_Mutation_p.S652F|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.S611F|CCDC14_ENST00000310351.4_Missense_Mutation_p.S492F			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	652						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383000													44	79					0	0	0.014410	0	0
GPC5	2262	broad.mit.edu	37	13	92797119	92797119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:92797119G>A	ENST00000377067.3	+	7	1810	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	480						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGACAAGTGGGAACTTCTTCA	0.428000													14	24					0	0	0.003163	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344979	102344979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:102344979C>T	ENST00000376180.3	+	8	1279	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ITGBL1_ENST00000545560.2_Missense_Mutation_p.R213C|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R261C	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	354	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCAGGAGATCGCCGGGTGTA	0.488000													39	61					0	0	0.004878	0	0
WEE2	494551	broad.mit.edu	37	7	141420806	141420806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141420806C>T	ENST00000397541.2	+	5	1236	c.830C>T	c.(829-831)tCc>tTc	p.S277F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	277	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CGTTACTATTCCTCATGGGCA	0.403000													32	61					0	0	0.013726	0	0
SPTA1	6708	broad.mit.edu	37	1	158639499	158639499	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:158639499C>T	ENST00000368148.3	-	13	1857	c.1677_splice	c.e13+1	p.G559_splice	SPTA1_ENST00000368147.3_Splice_Site_p.G559_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	559					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)					TTGGACATACCCCGTCACGGA	0.438000													60	318					0	0	0.014410	0	0
USP7	7874	broad.mit.edu	37	16	9012978	9012978	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:9012978G>A	ENST00000344836.4	-	6	828	c.630C>T	c.(628-630)caC>caT	p.H210H	USP7_ENST00000381886.4_Silent_p.H194H|USP7_ENST00000535863.1_Silent_p.H111H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	210					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGTAGCCTGTGTGCTTCTTTG	0.463000													41	59					0	0	0.013114	0	0
SYDE2	84144	broad.mit.edu	37	1	85648237	85648237	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:85648237C>T	ENST00000341460.5	-	3	2137	c.2088G>A	c.(2086-2088)cgG>cgA	p.R696R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	696	C2.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTGAATCTATCCGAGGTGGTT	0.388000													23	29					0	0	0.002780	0	0
TANC2	26115	broad.mit.edu	37	17	61499089	61499089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61499089G>A	ENST00000424789.2	+	25	5750	c.5746G>A	c.(5746-5748)Gag>Aag	p.E1916K	TANC2_ENST00000389520.4_Missense_Mutation_p.E1926K|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1916							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCATTTGCTGGAGGACGATTA	0.532000													52	25					0	0	0.014410	0	0
SCD5	79966	broad.mit.edu	37	4	83552506	83552506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:83552506C>T	ENST00000319540.4	-	5	1286	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	323					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAGTCCTGGCCTTCCGGGCC	0.532000													18	14					0	0	0.010504	0	0
ATP2B1	490	broad.mit.edu	37	12	90018083	90018083	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:90018083C>T	ENST00000428670.3	-	9	1677	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	ATP2B1_ENST00000359142.3_Silent_p.E407E|ATP2B1_ENST00000393164.2_Silent_p.E150E|ATP2B1_ENST00000348959.3_Silent_p.E407E|ATP2B1_ENST00000261173.2_Silent_p.E407E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGGTGTGCACTCAGCAAGCC	0.398000													15	31					0	0	0.006122	0	0
IL17F	112744	broad.mit.edu	37	6	52101880	52101880	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52101880T>C	ENST00000336123.4	-	3	448	c.341A>G	c.(340-342)gAa>gGa	p.E114G		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	114					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGAGATGTCTTCCTTTCCTTG	0.552000													20	42					0	0	0.008871	0	0
FKBP4	2288	broad.mit.edu	37	12	2909631	2909631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:2909631C>T	ENST00000001008.4	+	8	1107	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	307	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TCTAGTTTTTCCAATGAGGAA	0.483000													10	18					0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	40790139	40790139	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:40790139G>A	ENST00000373198.3	-	18	2836	c.2601C>T	c.(2599-2601)atC>atT	p.I867I	PTPRT_ENST00000373201.1_Silent_p.I835I|PTPRT_ENST00000356100.2_Silent_p.I854I|PTPRT_ENST00000373187.1_Silent_p.I845I|PTPRT_ENST00000373193.3_Silent_p.I848I|PTPRT_ENST00000373190.1_Silent_p.I844I|PTPRT_ENST00000373184.1_Silent_p.I835I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	845				P -> L (in Ref. 1; AAD09421).	homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGAGTCTGGATCGTGAGGG	0.587000													28	36					0	0	0.009535	0	0
DCLK2	166614	broad.mit.edu	37	4	151153563	151153563	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:151153563G>A	ENST00000296550.7	+	9	2128	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	DCLK2_ENST00000506325.1_Silent_p.E457E|DCLK2_ENST00000302176.8_Silent_p.E475E	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	458	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCGAGGAGATGGAAACAG	0.428000													92	116					0	0	0.014410	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390911	1390911	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:1390911C>T	ENST00000313408.7	+	5	293	c.270C>T	c.(268-270)gcC>gcT	p.A90A	NDUFS7_ENST00000233627.9_Silent_p.A90A|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Silent_p.A120A|NDUFS7_ENST00000539480.1_Silent_p.A90A|NDUFS7_ENST00000546283.1_Silent_p.A90A			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	90					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CCTGCTGCGCCGTGGAGATGA	0.701000													17	32					0	0	0.010504	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365120	74365120	+	Silent	SNP	T	T	C	rs150515307		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:74365120T>C	ENST00000290438.3	-	13	1504	c.1464A>G	c.(1462-1464)ctA>ctG	p.L488L		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	488										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTGGGTCTCTAGCTGTTGGT	0.612000													12	81					0	0	0.003163	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819163	159819163	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:159819163G>A	ENST00000497452.1	-	0	517																											ACACCCAATGGATTTTAGTAC	0.343000													25	25					0	0	0.004656	0	0
PLIN4	729359	broad.mit.edu	37	19	4513543	4513543	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:4513543G>A	ENST00000301286.3	-	3	386	c.387C>T	c.(385-387)gtC>gtT	p.V129V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	129	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCCCTGTGACCCCGCTGG	0.657000													7	14					0	0	0.003080	0	0
PROC	5624	broad.mit.edu	37	2	128178999	128178999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:128178999G>A	ENST00000453608.2	+	3	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PROC_ENST00000409048.1_Missense_Mutation_p.E71K|PROC_ENST00000234071.3_Missense_Mutation_p.E71K|PROC_ENST00000422777.3_Missense_Mutation_p.E71K			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	71					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGAGGCCAAGGAAATTTTCCA	0.587000													5	25					0	0	0.001168	0	0
OR13C9	286362	broad.mit.edu	37	9	107380360	107380360	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:107380360A>T	ENST00000259362.1	-	1	125	c.126T>A	c.(124-126)aaT>aaA	p.N42K		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAGAGTACCATTCCCCAGAA	0.438000													23	52					0	0	0.007291	0	0
ADAM30	11085	broad.mit.edu	37	1	120438853	120438853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120438853C>T	ENST00000369400.1	-	1	265	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	36					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTCAAACTCCCCTTCAGGGTG	0.498000													213	292					0	0	0.014410	0	0
BRD4	23476	broad.mit.edu	37	19	15366210	15366210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15366210G>A	ENST00000263377.2	-	10	2166	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	BRD4_ENST00000360016.5_Missense_Mutation_p.P649S|BRD4_ENST00000371835.4_Missense_Mutation_p.P649S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	649					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATCTCGTCGGGGTTGGAATTC	0.577000			T	C15orf55	lethal midline carcinoma of young people								18	32					0	0	0.004990	0	0
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCCCCTGGAATCTGTGAA	0.448000													21	27					0	0	0.003954	0	0
HRH1	3269	broad.mit.edu	37	3	11300882	11300882	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:11300882G>A	ENST00000397056.1	+	3	350	c.159G>A	c.(157-159)cgG>cgA	p.R53R	HRH1_ENST00000438284.2_Silent_p.R53R|HRH1_ENST00000431010.2_Silent_p.R53R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	53					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATGCCGTACGGAGTGAGCGGA	0.597000													9	29					0	0	0.004482	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152760	100152760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:100152760G>A	ENST00000370575.4	-	9	914	c.866C>T	c.(865-867)gCc>gTc	p.A289V	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	289							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ATCAGAGAGGGCACCCATGCC	0.597000													28	36					0	0	0.010818	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899720	130899720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:130899720G>A	ENST00000392984.3	-	2	1579	c.836C>T	c.(835-837)tCc>tTc	p.S279F	CCDC74B_ENST00000409128.1_Missense_Mutation_p.S153F|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S111F|CCDC74B_ENST00000310463.6_Missense_Mutation_p.S177F			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	177										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ATTAGAGATGGACTTGACAGA	0.642000													10	25					0	0	0.010729	0	0
TRAT1	50852	broad.mit.edu	37	3	108568015	108568015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108568015C>T	ENST00000295756.6	+	5	447	c.217C>T	c.(217-219)Cca>Tca	p.P73S	TRAT1_ENST00000426646.1_Missense_Mutation_p.P36S	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	73					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCCCAAGAACCAATGGATGA	0.328000													21	15					0	0	0.008871	0	0
LGSN	51557	broad.mit.edu	37	6	63995556	63995556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:63995556C>T	ENST00000370658.5	-	3	299	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LGSN_ENST00000370657.4_Missense_Mutation_p.R89Q	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	89					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGCTTCAAATCGTACAAACTG	0.433000													19	503					0	0	0.007413	0	0
IQSEC3	440073	broad.mit.edu	37	12	278224	278224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:278224C>T	ENST00000538872.1	+	12	3135	c.3017C>T	c.(3016-3018)cCc>cTc	p.P1006L	IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P1006L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P703L|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1006					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCTTCAAGCCCTGCGGAGCC	0.612000													34	50					0	0	0.005524	0	0
RADIL	55698	broad.mit.edu	37	7	4874663	4874663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4874663C>T	ENST00000399583.3	-	4	1178	c.991G>A	c.(991-993)Gag>Aag	p.E331K	RADIL_ENST00000538469.1_Missense_Mutation_p.E91K|RADIL_ENST00000536091.1_Missense_Mutation_p.E331K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	331	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGCCCCACCTCGGAGAAGTTG	0.706000													5	9					0	0	0.001168	0	0
APOM	55937	broad.mit.edu	37	6	31623783	31623783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31623783G>A	ENST00000375916.3	+	1	536	c.40G>A	c.(40-42)Ggt>Agt	p.G14S	APOM_ENST00000375918.2_Intron|APOM_ENST00000375920.4_Intron	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	14				MFHQIWAALLYFYGIILNSIYQCPEHSQLTTLGVDGKE -> RFPDSIWGSRSDTSGSPQVPKLYFCGARRESPQPQT (in Ref. 3; AAF29014).	cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CTACTTCTATGGTATTATCCT	0.532000													99	21					0	0	0.014410	0	0
RASEF	158158	broad.mit.edu	37	9	85627427	85627427	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:85627427C>T	ENST00000376447.3	-	5	1026		c.e5-1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTCTTCGAGCTGAAAGACCA	0.318000													6	7					0	0	0.003080	0	0
RAB22A	57403	broad.mit.edu	37	20	56934664	56934664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:56934664C>T	ENST00000244040.3	+	7	771	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	164					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TGGTTTAGGTCGAAGAATTCC	0.468000													28	21					0	0	0.008361	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323695	79323695	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79323695G>A	ENST00000428286.1	-	8	3618	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	PRUNE2_ENST00000376718.3_Silent_p.T1165T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1165					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTAAATCGGGTTTCCGGCT	0.532000													45	66					0	0	0.014410	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148826	170148826	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:170148826C>T	ENST00000434108.1	+	4	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000411494.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTCCTTTTCTGCCTTGTAG	0.547000													55	88					0	0	0.014410	0	0
SPEN	23013	broad.mit.edu	37	1	16259360	16259360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:16259360C>T	ENST00000375759.3	+	11	6829	c.6625C>T	c.(6625-6627)Caa>Taa	p.Q2209*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2209	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA 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)		GCCTGCACACCAAGCAAGTGA	0.572000													21	37					0	0	0.010504	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146260	10146260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:10146260C>T	ENST00000450660.2	-	2	415	c.199G>A	c.(199-201)Gga>Aga	p.G67R	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.G67R	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GGACTCACTCCAGATTCCAGG	0.562000													17	22					0	0	0.004990	0	0
MYH10	4628	broad.mit.edu	37	17	8508201	8508201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:8508201C>T	ENST00000360416.3	-	3	583	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MYH10_ENST00000379980.4_Missense_Mutation_p.E149K|MYH10_ENST00000269243.4_Missense_Mutation_p.E149K|MYH10_ENST00000396239.1_Missense_Mutation_p.E149K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	149	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAGGCATCTCATGACGCTTC	0.348000													30	46					0	0	0.003271	0	0
ZNF91	7644	broad.mit.edu	37	19	23544818	23544818	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:23544818G>A	ENST00000300619.7	-	4	1168	c.963C>T	c.(961-963)ccC>ccT	p.P321P	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.P289P	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CACATTTGTAGGGTTTCTCTC	0.383000													36	39					0	0	0.005524	0	0
GJA1	2697	broad.mit.edu	37	6	121768817	121768817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:121768817C>T	ENST00000282561.3	+	2	981	c.824C>T	c.(823-825)aCc>aTc	p.T275I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	275					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCCTCACCAACCGCTCCCCTC	0.517000													23	11					0	0	0.003330	0	0
CDAN1	146059	broad.mit.edu	37	15	43021262	43021262	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:43021262G>A	ENST00000356231.3	-	19	2627	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	868			F -> I (in CDA1).			integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTCTGCCACGAACTCTACGG	0.547000													43	52					0	0	0.014410	0	0
CLCA2	9635	broad.mit.edu	37	1	86905990	86905990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:86905990G>A	ENST00000370565.4	+	8	1525	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	455	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAATCTGGAGGAATTATCACG	0.398000													22	23					0	0	0.003330	0	0
SLC6A17	388662	broad.mit.edu	37	1	110741021	110741021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:110741021T>A	ENST00000331565.4	+	12	2624	c.2139T>A	c.(2137-2139)taT>taA	p.Y713*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	713					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGGACGCTATGGGAGCGGCT	0.667000													46	36					0	0	0.014410	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445668	29445668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:29445668C>T	ENST00000544604.2	+	8	1674	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	ZNRF3_ENST00000406323.3_Missense_Mutation_p.P400L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P400L|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P400L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	500						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGTGCCTTTCCTCCGAGCGGC	0.687000													13	15					0	0	0.002450	0	0
ZNF99	7652	broad.mit.edu	37	19	22941052	22941052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:22941052C>T	ENST00000397104.3	-	5	1385	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	ZNF99_ENST00000596209.1_Missense_Mutation_p.M553I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCATAAGGGTTG	0.333000													26	33					0	0	0.007291	0	0
CDH15	1013	broad.mit.edu	37	16	89254573	89254573	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:89254573G>A	ENST00000289746.2	+	7	923	c.858G>A	c.(856-858)agG>agA	p.R286R		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	286	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGGAGGACAGGGACCTGCCAG	0.642000													10	14					0	0	0.001855	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093368	30093368	+	RNA	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:30093368C>G	ENST00000567636.1	+	0	1743					NR_003558.1																						TTGGTACCTCCCCTTGGGATC	0.488000													12	27					0	0	0.001855	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261749	67261749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67261749C>T	ENST00000356404.3	-	19	3050	c.2825G>A	c.(2824-2826)gGg>gAg	p.G942E	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.G942E|PITPNM1_ENST00000436757.2_Missense_Mutation_p.G941E	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	942					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTCCAGGGGCCCGTACATGAA	0.667000													15	26					0	0	0.003163	0	0
CYLC1	1538	broad.mit.edu	37	X	83129179	83129179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:83129179C>T	ENST00000329312.4	+	4	1500	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	488					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAATGGAATCTGATTTGGAG	0.343000													8	1					0	0	0.003080	0	0
SYT9	143425	broad.mit.edu	37	11	7439255	7439255	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7439255G>A	ENST00000318881.6	+	5	1470	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	411	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATCCACCAAGAGGAACACCT	0.468000													39	31					0	0	0.006230	0	0
TUBB6	84617	broad.mit.edu	37	18	12325866	12325866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:12325866G>A	ENST00000317702.5	+	4	1312	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	360					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCCGCCCCGCGGCCTGAAGAT	0.607000													74	112					0	0	0.014410	0	0
ASTN2	23245	broad.mit.edu	37	9	119903640	119903640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:119903640G>A	ENST00000313400.4	-	4	1233	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.S378L|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	378						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTCCCTGCCGATGTGCTGCG	0.577000													16	32					0	0	0.004007	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39296431A>G	ENST00000345847.4	-	1	308	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	99	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652000													4	43					0	0	0.001984	0	0
NEO1	4756	broad.mit.edu	37	15	73468837	73468837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:73468837C>T	ENST00000339362.5	+	7	1556	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	NEO1_ENST00000560262.1_Missense_Mutation_p.P370L|NEO1_ENST00000558964.1_Missense_Mutation_p.P370L|NEO1_ENST00000261908.6_Missense_Mutation_p.P370L			Q92859	NEO1_HUMAN	neogenin 1	370	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAACCAACTCCAACTGTGAAG	0.343000													30	36					0	0	0.007291	0	0
ITGA6	3655	broad.mit.edu	37	2	173337567	173337567	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:173337567C>A	ENST00000375221.2	+	6	1044	c.841C>A	c.(841-843)Ccc>Acc	p.P281T	ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.P237T|ITGA6_ENST00000409532.1_Missense_Mutation_p.P123T|ITGA6_ENST00000264106.6_Missense_Mutation_p.P281T|ITGA6_ENST00000264107.7_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	281					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACACGGCCTCCCCGGGAGCA	0.463000													22	66					5.61819e-17	6.27508e-17	0.005443	1	0
RORC	6097	broad.mit.edu	37	1	151787076	151787076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:151787076C>T	ENST00000356728.6	-	5	998	c.844G>A	c.(844-846)Gag>Aag	p.E282K	RORC_ENST00000392697.3_Missense_Mutation_p.E357K|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Missense_Mutation_p.E303K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	303	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCACTTCCTCCCGGGAGAAG	0.632000													15	28					0	0	0.004007	0	0
ALOX15	246	broad.mit.edu	37	17	4542411	4542411	+	Silent	SNP	C	C	T	rs141412026		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4542411C>T	ENST00000570836.1	-	4	450	c.354G>A	c.(352-354)gaG>gaA	p.E118E	ALOX15_ENST00000574640.1_Silent_p.E79E|ALOX15_ENST00000293761.3_Silent_p.E118E|ALOX15_ENST00000545513.1_Silent_p.E140E			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	118	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCTGAGGGTCCTCGCCCACAG	0.607000													56	97					0	0	0.014410	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141301106	141301106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:141301106G>A	ENST00000389328.4	-	12	2148	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.R605*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.R614*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	614					cell differentiation	endoplasmic reticulum|Golgi apparatus				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													21	32					0	0	0.010504	0	0
TRPM1	4308	broad.mit.edu	37	15	31358298	31358298	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:31358298G>A	ENST00000542188.1	-	6	1135	c.822C>T	c.(820-822)tcC>tcT	p.S274S	TRPM1_ENST00000256552.6_Silent_p.S257S|TRPM1_ENST00000397795.2_Silent_p.S235S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	235					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTCTGCAGGGAGATGTGCT	0.547000													41	54					0	0	0.009718	0	0
TCN1	6947	broad.mit.edu	37	11	59629071	59629071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:59629071G>A	ENST00000257264.3	-	4	589	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	162					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCGGCGGTTGAGTAGTTCCC	0.443000													43	44					0	0	0.009718	0	0
FARSA	2193	broad.mit.edu	37	19	13041140	13041140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:13041140C>T	ENST00000588025.1	-	5	660	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FARSA_ENST00000314606.4_Missense_Mutation_p.D134N|FARSA_ENST00000423140.2_Missense_Mutation_p.D134N			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	134					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGCACCTCATCCTCCATGCTG	0.662000													25	42					0	0	0.004656	0	0
WIPF2	147179	broad.mit.edu	37	17	38416912	38416912	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:38416912C>T	ENST00000323571.4	+	3	429	c.189C>T	c.(187-189)atC>atT	p.I63I	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Silent_p.I63I|WIPF2_ENST00000585043.1_Silent_p.I63I|WIPF2_ENST00000536600.1_Silent_p.I63I|WIPF2_ENST00000583130.1_Silent_p.I63I	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	63						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTGCTCCCATCCTCGAGAGTG	0.517000										HNSCC(43;0.11)			19	19					0	0	0.012319	0	0
DDX50	79009	broad.mit.edu	37	10	70670830	70670830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:70670830G>A	ENST00000373585.3	+	4	574	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	156						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACAGGTCGAGGGGTAACATAT	0.323000													29	60					0	0	0.008361	0	0
AIRE	326	broad.mit.edu	37	21	45711083	45711083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:45711083G>A	ENST00000291582.5	+	8	1112	c.985G>A	c.(985-987)Gag>Aag	p.E329K	AIRE_ENST00000329347.4_Missense_Mutation_p.E122K|AIRE_ENST00000355347.4_Missense_Mutation_p.E122K	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	329					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCGCTCCGGGAGATCCCCAG	0.697000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				10	15					0	0	0.001855	0	0
SSX9	280660	broad.mit.edu	37	X	48159160	48159160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:48159160C>T	ENST00000376909.1	-	6	435	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SSX9_ENST00000407081.2_Missense_Mutation_p.E125K																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCTGGCACTTCCTTCGAATCA	0.463000													163	31					0	0	0.014410	0	0
EDC4	23644	broad.mit.edu	37	16	67915935	67915935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67915935C>T	ENST00000358933.5	+	23	3322	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1028					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAACAGTTGTCCCAAGCACTG	0.612000													9	13					0	0	0.006214	0	0
TPTE	7179	broad.mit.edu	37	21	10914431	10914431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:10914431C>T	ENST00000298232.7	-	20	1601	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	TPTE_ENST00000361285.4_Missense_Mutation_p.D430N|TPTE_ENST00000342420.5_Missense_Mutation_p.D392N|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	430	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTTAGATCACGTACATAA	0.313000													5	30					0	0	0.001984	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221439	10221439	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:10221439C>T	ENST00000428358.1	+	11	1270	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	PPAN_ENST00000556468.1_Silent_p.I366I|PPAN_ENST00000393793.1_Silent_p.I313I|PPAN_ENST00000253107.7_Silent_p.I366I|PPAN-P2RY11_ENST00000393796.4_Silent_p.I366I	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		366					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCTCTGGGATCCCTTCAAGGA	0.607000													58	63					0	0	0.014410	0	0
ATP2B1	490	broad.mit.edu	37	12	90018085	90018085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:90018085C>T	ENST00000428670.3	-	9	1675	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ATP2B1_ENST00000359142.3_Missense_Mutation_p.E407K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E150K|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E407K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E407K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGTGTGCACTCAGCAAGCCAT	0.393000													15	32					0	0	0.006122	0	0
EHD1	10938	broad.mit.edu	37	11	64622297	64622297	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:64622297G>A	ENST00000320631.3	-	5	1367	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.F371F	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	371					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCAGCGCCTGGAACTTGCTGA	0.637000													122	140					0	0	0.014410	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619277	64619277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:64619277C>T	ENST00000498707.1	-	14	2388	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.M654I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	682	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCGGTCCTTCATCAGAACTA	0.512000													186	252					0	0	0.014410	0	0
FAM69B	138311	broad.mit.edu	37	9	139616459	139616459	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:139616459C>T	ENST00000371691.1	+	1	1123	c.24C>T	c.(22-24)ctC>ctT	p.L8L	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.L95L			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	95						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GGACCTGCCTCTCGGTGGCCC	0.657000													17	26					0	0	0.004007	0	0
MBD5	55777	broad.mit.edu	37	2	149221445	149221445	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:149221445C>T	ENST00000407073.1	+	8	1351	c.354C>T	c.(352-354)gcC>gcT	p.A118A	MBD5_ENST00000404807.1_Silent_p.A118A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	118						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCATGGAAGCCCCACATCCTT	0.443000													13	34					0	0	0.013537	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821132	43821132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:43821132C>T	ENST00000389420.3	-	27	4085	c.4086G>A	c.(4084-4086)tgG>tgA	p.W1362*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W1362*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W480*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1362	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCCGTAGTTCCACTGTGGAC	0.423000													21	37					0	0	0.003954	0	0
OR4N2	390429	broad.mit.edu	37	14	20296115	20296115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20296115G>A	ENST00000315947.1	+	1	508	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	OR4N2_ENST00000568211.1_Missense_Mutation_p.G170S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTTTTGTGGCCCAAACCA	0.522000													49	83					0	0	0.014410	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904938	73904938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:73904938C>T	ENST00000342056.2	+	15	3055	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	KCNQ5_ENST00000414165.2_Missense_Mutation_p.S757F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S858F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S877F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S867F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S868F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S867F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	867					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGAGGGAATCCAAATTGTTT	0.498000													22	10					0	0	0.012319	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228526	228228526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:228228526C>T	ENST00000304568.3	-	4	641	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	202						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACAGGACCTCCAGAATTCCA	0.418000													41	58					0	0	0.009718	0	0
LAMA2	3908	broad.mit.edu	37	6	129714402	129714402	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:129714402T>A	ENST00000421865.2	+	37	5494		c.e37+2			NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATTGGAGGTGAGTCTTAGG	0.428000													13	4					0	0	0.001855	0	0
L2HGDH	79944	broad.mit.edu	37	14	50732175	50732175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:50732175G>A	ENST00000267436.4	-	9	1494	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	L2HGDH_ENST00000261699.4_Missense_Mutation_p.S366F|L2HGDH_ENST00000421284.3_Missense_Mutation_p.S366F			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	366					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AACTCCATAGGAAAAATTCTG	0.308000													13	16					0	0	0.002450	0	0
RNFT1	51136	broad.mit.edu	37	17	58034687	58034687	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:58034687G>A	ENST00000305783.8	-	6	958	c.903C>T	c.(901-903)ccC>ccT	p.P301P	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	301						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AAACTGGTATGGGAACAAAAG	0.368000													28	42					0	0	0.008361	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:101712206C>T	ENST00000251127.6	-	42	4950	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGGCATTCGTGTCCTCAC	0.542000													27	47					0	0	0.006320	0	0
DNAH7	56171	broad.mit.edu	37	2	196788389	196788389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:196788389G>A	ENST00000312428.6	-	23	3855	c.3755C>T	c.(3754-3756)tCa>tTa	p.S1252L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1252	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTACAAGTGATGAGAGGAC	0.408000													27	27					0	0	0.007291	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540495	169540495	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:169540495C>T	ENST00000340806.6	+	1	786	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	262										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGACGGAAATCGGGCTGAGCG	0.607000													14	21					0	0	0.001855	0	0
OR10A6	390093	broad.mit.edu	37	11	7950061	7950061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7950061G>A	ENST00000309838.2	-	1	148	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTCTAGGGAGACGATGAC	0.463000													46	58					0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13397781	13397781	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:13397781C>T	ENST00000360228.5	-	20	3089		c.e20-1		CACNA1A_ENST00000573710.2_Splice_Site	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGGTTCTCTCTGAGGAAGGC	0.532000													14	12					0	0	0.002450	0	0
HMMR	3161	broad.mit.edu	37	5	162902636	162902636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:162902636C>T	ENST00000416990.2	+	11	1378	c.881C>T	c.(880-882)tCt>tTt	p.S294F	HMMR_ENST00000358715.3_Missense_Mutation_p.S408F|HMMR_ENST00000432118.2_Missense_Mutation_p.S322F|HMMR_ENST00000353866.3_Missense_Mutation_p.S393F|HMMR_ENST00000393915.4_Missense_Mutation_p.S409F			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	408						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAAGCAAAATCTAGAGCTGAA	0.353000													10	20					0	0	0.008291	0	0
VPS13A	23230	broad.mit.edu	37	9	79933216	79933216	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79933216C>T	ENST00000360280.3	+	41	5282	c.5022C>T	c.(5020-5022)acC>acT	p.T1674T	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1674T|VPS13A_ENST00000376636.3_Silent_p.T1635T|VPS13A_ENST00000357409.5_Silent_p.T1674T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1674					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTAAGGAAACCATCCCAGAAG	0.308000													24	58					0	0	0.006320	0	0
LRRC27	80313	broad.mit.edu	37	10	134158143	134158143	+	Missense_Mutation	SNP	C	C	T	rs149563961	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:134158143C>T	ENST00000392638.2	+	5	737	c.542C>T	c.(541-543)cCa>cTa	p.P181L	LRRC27_ENST00000368614.3_Missense_Mutation_p.P181L|LRRC27_ENST00000432555.2_Missense_Mutation_p.P54L|LRRC27_ENST00000368612.1_Missense_Mutation_p.P119L|LRRC27_ENST00000368615.3_Missense_Mutation_p.P181L|LRRC27_ENST00000368613.4_Missense_Mutation_p.P181L|LRRC27_ENST00000344079.5_Missense_Mutation_p.P181L|LRRC27_ENST00000356571.4_Silent_p.S161S|LRRC27_ENST00000368610.3_Missense_Mutation_p.P119L			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	181										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)		CCCAGAAATCCAACTTCTCAA	0.453000													29	40					0	0	0.006320	0	0
SCYL2	55681	broad.mit.edu	37	12	100707242	100707242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:100707242G>A	ENST00000360820.2	+	7	1332	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	299	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TATACCTGAGGAAGTTCGTGA	0.328000													12	31					0	0	0.001855	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146659	70146659	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:70146659C>T	ENST00000335568.5	+	1	443	c.441C>T	c.(439-441)atC>atT	p.I147I	UGT2B28_ENST00000511240.1_Silent_p.I147I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	147					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATTTGACATCATTTTTGCAG	0.368000													30	63					0	0	0.008361	0	0
COL2A1	1280	broad.mit.edu	37	12	48368607	48368607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:48368607C>T	ENST00000380518.3	-	52	4089	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.D1240N	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1309	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCATGGCGTCCAAGGTGCAG	0.552000													32	61					0	0	0.006230	0	0
CACNB3	784	broad.mit.edu	37	12	49220860	49220860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:49220860C>T	ENST00000301050.2	+	12	1293	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	CACNB3_ENST00000547230.1_Missense_Mutation_p.P324L|CACNB3_ENST00000540990.1_Missense_Mutation_p.P352L|CACNB3_ENST00000547392.1_Missense_Mutation_p.P338L|CACNB3_ENST00000536187.2_Missense_Mutation_p.P364L	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	365					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CACCCAGCCCCTGGCCCCGGA	0.597000													42	78					0	0	0.011902	0	0
OR4K15	81127	broad.mit.edu	37	14	20444710	20444710	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20444710C>T	ENST00000305051.5	+	1	1108	c.1033C>T	c.(1033-1035)Cta>Tta	p.L345L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCTTTTCCTAGAAACAAA	0.388000													7	14					0	0	0.006214	0	0
CRB1	23418	broad.mit.edu	37	1	197446914	197446914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:197446914C>T	ENST00000367400.3	+	12	4261	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	CRB1_ENST00000367399.2_Nonsense_Mutation_p.Q1264*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.Q840*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.Q1352*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.Q857*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1376					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						AAGGGCAACTCAGGGAACCTA	0.527000													21	80					0	0	0.010504	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364235	23364235	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:23364235T>G	ENST00000343070.2	+	3	601	c.425T>G	c.(424-426)tTc>tGc	p.F142C	SCNN1B_ENST00000568923.1_Missense_Mutation_p.F142C|SCNN1B_ENST00000307331.5_Missense_Mutation_p.F187C|SCNN1B_ENST00000568085.1_Missense_Mutation_p.F142C	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	142					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AACCTGAACTTCTCCATCTGG	0.522000													46	58					0	0	0.014410	0	0
PRLR	5618	broad.mit.edu	37	5	35066046	35066046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:35066046C>T	ENST00000382002.5	-	10	1440	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.M237I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.M237I|PRLR_ENST00000310101.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	338					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGTGGGTTTCATACCTTGAC	0.493000													29	44					0	0	0.010818	0	0
DHX34	9704	broad.mit.edu	37	19	47856689	47856689	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47856689C>T	ENST00000328771.4	+	2	751	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	134						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTGAGTTCCGCCGAGCCCTGT	0.647000													34	38					0	0	0.003271	0	0
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49005998C>T	ENST00000356401.4	+	7	909	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ARIH2_ENST00000449376.1_Silent_p.L190L|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.502000													53	87					0	0	0.014410	0	0
CHN1	1123	broad.mit.edu	37	2	175742644	175742644	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:175742644T>C	ENST00000409900.3	-	6	786	c.473A>G	c.(472-474)aAa>aGa	p.K158R	CHN1_ENST00000409156.3_Missense_Mutation_p.K158R|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	158					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATATGTTTTTTGTATGCTGG	0.418000			T	TAF15	extraskeletal myxoid chondrosarcoma								50	47					0	0	0.014410	0	0
FBXL18	80028	broad.mit.edu	37	7	5545151	5545151	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:5545151G>A	ENST00000382368.3	-	2	252	c.129C>T	c.(127-129)gtC>gtT	p.V43V	FBXL18_ENST00000453700.3_Silent_p.V43V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	43	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGTGCTGGGGACGTGACTCA	0.567000													32	35					0	0	0.013726	0	0
SRPX2	27286	broad.mit.edu	37	X	99920558	99920558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:99920558G>A	ENST00000373004.3	+	7	1113	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	229	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCCTGAGCCTGGCTCTCACTT	0.522000													42	7					0	0	0.008740	0	0
OR7G2	390882	broad.mit.edu	37	19	9213689	9213689	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9213689C>T	ENST00000305456.2	-	1	293	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77					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						TCTTTGGGATCGTGGTTGTGC	0.488000													35	54					0	0	0.004289	0	0
MTMR11	10903	broad.mit.edu	37	1	149905831	149905831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:149905831G>A	ENST00000439741.2	-	8	938	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P158S|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.P202S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	230	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTAACGGGGGAGGCTGTGA	0.483000													90	89					0	0	0.014410	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854860	21854860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:21854860G>A	ENST00000415645.2	-	4	431	c.392C>T	c.(391-393)tCc>tTc	p.S131F	NPIPB4_ENST00000357370.5_Missense_Mutation_p.S131F|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR					nuclear pore complex interacting protein family, member B4																		TCCTCGAAAGGAAGAAACTCT	0.428000													54	427					0	0	0.014410	0	0
SENP7	57337	broad.mit.edu	37	3	101058952	101058952	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:101058952C>G	ENST00000394095.2	-	16	2397	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H	SENP7_ENST00000358203.3_Missense_Mutation_p.D618H|SENP7_ENST00000314261.7_Missense_Mutation_p.D716H|SENP7_ENST00000394094.2_Missense_Mutation_p.D717H|SENP7_ENST00000394091.1_Missense_Mutation_p.D618H|SENP7_ENST00000348610.3_Missense_Mutation_p.D749H	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	782	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTAAAAATCAATGATTACA	0.299000													8	12					0	0	0.006214	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476383	87476383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:87476383G>A	ENST00000341119.5	-	8	858	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	171					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAACTTCTTGGACTGCATCTT	0.383000													53	100					0	0	0.014410	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594521	140594521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140594521G>A	ENST00000341948.4	+	1	1013	c.826G>A	c.(826-828)Gga>Aga	p.G276R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGTCAACGGAGAGATTTC	0.438000													59	99					0	0	0.014410	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306992	2306992	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:2306992A>T	ENST00000290974.2	-	8	1414	c.1075T>A	c.(1075-1077)Ttg>Atg	p.L359M	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L329M|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L289M|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	359					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTGAAAGCAAAGAGGACATC	0.677000													16	29					0	0	0.003163	0	0
USP19	10869	broad.mit.edu	37	3	49155249	49155249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49155249G>A	ENST00000453664.1	-	4	631	c.313C>T	c.(313-315)Cct>Tct	p.P105S	USP19_ENST00000417901.1_Missense_Mutation_p.P105S|USP19_ENST00000398892.3_Intron|USP19_ENST00000434032.2_Missense_Mutation_p.P105S|USP19_ENST00000398888.2_Missense_Mutation_p.P105S|USP19_ENST00000398898.2_Intron|USP19_ENST00000488993.1_Intron|USP19_ENST00000398896.1_Intron	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	105					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCATGAGGGTCTTCACAA	0.527000													8	21					0	0	0.003080	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053938	65053938	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:65053938G>A	ENST00000298705.1	+	10	834	c.738G>A	c.(736-738)gtG>gtA	p.V246V	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	246																	GTACATATGTGGCTTGGATTG	0.403000													11	14					0	0	0.010729	0	0
FOXO1	2308	broad.mit.edu	37	13	41134157	41134157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:41134157C>T	ENST00000379561.5	-	2	1855	c.1471G>A	c.(1471-1473)Gtt>Att	p.V491I		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	491					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGCCCAGAACCCGGCTGTTG	0.527000													15	27					0	0	0.002450	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594906	31594906	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31594906C>T	ENST00000376033.2	+	11	1455	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	PRRC2A_ENST00000376007.4_Silent_p.A407A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	407	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.A407A(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GACCTCCTGCCCCAAAGCCTC	0.652000													27	8					0	0	0.007291	0	0
CCDC83	220047	broad.mit.edu	37	11	85606418	85606418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:85606418G>A	ENST00000280245.4	+	6	1106	c.594G>A	c.(592-594)tgG>tgA	p.W198*	CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Nonsense_Mutation_p.W198*|CCDC83_ENST00000376067.1_Nonsense_Mutation_p.W99*	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	198										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAGGAATGGGCCACACAGG	0.294000													20	8					0	0	0.003954	0	0
RALYL	138046	broad.mit.edu	37	8	85799935	85799935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:85799935G>A	ENST00000521268.1	+	8	1887	c.782G>A	c.(781-783)gGa>gAa	p.G261E	RALYL_ENST00000521695.1_Missense_Mutation_p.G261E|RALYL_ENST00000518566.1_Missense_Mutation_p.G250E|RALYL_ENST00000522455.1_Missense_Mutation_p.G261E|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.G188E|RALYL_ENST00000517638.1_Missense_Mutation_p.G274E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	261							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCTGCTGAAGGAGGGCCAGAT	0.488000													27	52					0	0	0.006320	0	0
MORC1	27136	broad.mit.edu	37	3	108818307	108818307	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108818307G>A	ENST00000232603.5	-	6	403	c.321C>T	c.(319-321)tcC>tcT	p.S107S	MORC1_ENST00000483760.1_Silent_p.S107S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	107					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAATTCTCATGGACCCACTAT	0.353000													16	18					0	0	0.003163	0	0
ZNF488	118738	broad.mit.edu	37	10	48371348	48371348	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48371348C>T	ENST00000395702.2	+	2	1043	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.S165S			Q96MN9	ZN488_HUMAN	zinc finger protein 488	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGGCTTGTCCACCCAGAACT	0.617000													21	39					0	0	0.012319	0	0
IL9R	3581	broad.mit.edu	37	X	155231115	155231115	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:155231115C>T	ENST00000540897.1	+	2	125	c.57C>T	c.(55-57)tgC>tgT	p.C19C	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000369423.2_Silent_p.C29C|IL9R_ENST00000424344.3_5'UTR	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAGAACTTGCCACGGTGTTT	0.547000													83	144					0	0	0.014410	0	0
NCOA2	10499	broad.mit.edu	37	8	71128914	71128914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:71128914G>A	ENST00000452400.2	-	3	248	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	23					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTTGGTCAGGACATTCCTTG	0.418000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								43	54					0	0	0.014410	0	0
GCKR	2646	broad.mit.edu	37	2	27726407	27726407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27726407C>T	ENST00000264717.2	+	9	734	c.671C>T	c.(670-672)tCa>tTa	p.S224L	GCKR_ENST00000424318.2_Missense_Mutation_p.S34L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	224	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.S224*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACTGGAGTTCAACATTCCGA	0.493000													13	21					0	0	0.003163	0	0
SALL1	6299	broad.mit.edu	37	16	51175289	51175289	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:51175289A>C	ENST00000440970.1	-	2	984	c.553T>G	c.(553-555)Ttg>Gtg	p.L185V	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L282V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	282					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCGTGGACAAGGGGTTGGCA	0.493000													41	61					0	0	0.006230	0	0
ITSN2	50618	broad.mit.edu	37	2	24521542	24521542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:24521542C>T	ENST00000355123.4	-	13	1929	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E496K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E496K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	496					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGTGCTTCCAACTCAAGA	0.408000													31	42					0	0	0.013726	0	0
RPIA	22934	broad.mit.edu	37	2	89049515	89049515	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:89049515C>T	ENST00000283646.4	+	9	911	c.856C>T	c.(856-858)Cta>Tta	p.L286L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	286					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGACACAGGCCTATTCATCAA	0.493000													24	42					0	0	0.008361	0	0
DRC1	92749	broad.mit.edu	37	2	26667734	26667734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:26667734G>A	ENST00000288710.2	+	10	1388	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		ctgatttctggttcctgaaca	0.512000													19	26					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179542444G>A	ENST00000589042.1	-	146	34419	c.34195C>T	c.(34195-34197)Cct>Tct	p.P11399S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10155S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11082S|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11082	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCGGGAGGAACTTCCTCT	0.448000													49	67					0	0	0.014410	0	0
GLRA3	8001	broad.mit.edu	37	4	175603979	175603979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:175603979C>T	ENST00000274093.3	-	6	1188	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	GLRA3_ENST00000340217.5_Missense_Mutation_p.R229Q	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R229P(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGTGCAGTATCGTAAATCTTT	0.373000													18	8					0	0	0.008871	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116100	44116100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:44116100C>T	ENST00000259746.9	+	13	1282	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	TMEM63B_ENST00000323267.6_Missense_Mutation_p.H367Y			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	367						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGTCACCTTCCACAATGAGAC	0.572000													76	56					0	0	0.014410	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071749	100071749	+	Silent	SNP	T	T	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:100071749T>A	ENST00000375202.2	+	17	1607	c.255T>A	c.(253-255)tcT>tcA	p.S85S	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S85S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.S224S|CCDC180_ENST00000411667.2_Silent_p.S85S|CCDC180_ENST00000357054.1_Silent_p.S224S					coiled-coil domain containing 180																		CAGAGCGTTCTGTGACCCTGA	0.607000													22	30					0	0	0.014323	0	0
MYH3	4621	broad.mit.edu	37	17	10558265	10558265	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10558265G>A	ENST00000583535.1	-	3	204	c.117C>T	c.(115-117)ttC>ttT	p.F39F	MYH3_ENST00000226209.7_Silent_p.F39F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	39	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.F39F(1)		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						AGTCCACCACGAAGCAATACG	0.493000													80	105					0	0	0.014410	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563979	50563979	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50563979G>A	ENST00000262794.5	+	11	1811	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	MOV10L1_ENST00000540615.1_Silent_p.G556G|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.G576G|MOV10L1_ENST00000545383.1_Silent_p.G576G	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	576					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA 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)		TGGCCGAAGGGAGGCCTTCTC	0.468000													23	40					0	0	0.003330	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897029	48897029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:48897029G>A	ENST00000394754.1	+	9	3373	c.3259G>A	c.(3259-3261)Gta>Ata	p.V1087I	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V349I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V1087I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V383I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V1087I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V1040I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V1087I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1040					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATCTGAAGGTACCTGAAGA	0.403000													26	36					0	0	0.006320	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206903358	206903358	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:206903358C>T	ENST00000367103.3	+	5	799	c.606C>T	c.(604-606)atC>atT	p.I202I	MAPKAPK2_ENST00000294981.4_Silent_p.I202I	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	202	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAACGCCATCCTGAAACTCA	0.493000													43	150					0	0	0.010771	0	0
A2ML1	144568	broad.mit.edu	37	12	8993994	8993994	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:8993994C>T	ENST00000299698.7	+	11	1290	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	214						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGACTCCTTCCTCAAGAACC	0.418000													30	41					0	0	0.010818	0	0
FCRL5	83416	broad.mit.edu	37	1	157494225	157494225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:157494225G>A	ENST00000361835.3	-	10	2240	c.2083C>T	c.(2083-2085)Cat>Tat	p.H695Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H695Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H610Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H695Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	695	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCTTCATGATAAAACCAG	0.572000													21	107					0	0	0.014323	0	0
CDK14	5218	broad.mit.edu	37	7	90613509	90613509	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:90613509T>C	ENST00000406263.1	+	9	1298	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	CDK14_ENST00000436577.2_Missense_Mutation_p.F203L|CDK14_ENST00000265741.3_Missense_Mutation_p.F314L|CDK14_ENST00000380050.3_Missense_Mutation_p.F332L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	332	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGTTGCTGCTTTTCCAGGAAT	0.348000													58	75					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179441663	179441663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179441663C>T	ENST00000589042.1	-	324	69623	c.69399G>A	c.(69397-69399)atG>atA	p.M23133I	TTN_ENST00000359218.5_Missense_Mutation_p.M14193I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M14260I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M14068I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M20565I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M21492I|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21492	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGTCTACCATTTTGACAG	0.393000													88	115					0	0	0.014410	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920179	155920179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:155920179G>A	ENST00000368316.1	-	25	3184	c.2714C>T	c.(2713-2715)cCc>cTc	p.P905L	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P932L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P905L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P933L|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P934L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	933					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCTTCGGGGCTCCCCAG	0.627000													26	91					0	0	0.005443	0	0
KMT2B	9757	broad.mit.edu	37	19	36219791	36219791	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36219791G>T	ENST00000420124.1	+	20	4687		c.e20+1		WBP7_ENST00000222270.7_Splice_Site|KMT2B_ENST00000607650.1_RNA																							CCCTCAGCAGGTACTGGGAAG	0.602000													16	21					4.7546e-09	5.27401e-09	0.004007	1	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	G	A	rs146935299	by1000genomes	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:114014634G>A	ENST00000481065.1	+	3	3120	c.505G>A	c.(505-507)Gat>Aat	p.D169N	TIGIT_ENST00000486257.1_Missense_Mutation_p.D102N|TIGIT_ENST00000383671.3_Missense_Mutation_p.D102N			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	102					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000													18	43					0	0	0.012319	0	0
SMC3	9126	broad.mit.edu	37	10	112356173	112356173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:112356173C>T	ENST00000361804.4	+	19	2107	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	661	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCAGCCATCGGGGTGCTCT	0.353000													23	29					0	0	0.006320	0	0
ERC1	23085	broad.mit.edu	37	12	1225057	1225057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:1225057C>T	ENST00000397203.2	+	7	1833	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ERC1_ENST00000355446.5_Missense_Mutation_p.S476F|ERC1_ENST00000589028.1_Missense_Mutation_p.S476F|ERC1_ENST00000360905.4_Missense_Mutation_p.S476F|ERC1_ENST00000543086.3_Missense_Mutation_p.S448F|ERC1_ENST00000546231.2_Missense_Mutation_p.S476F|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	476					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CAGGAGCTGTCCAGAAAGGAC	0.398000													9	19					0	0	0.008291	0	0
CAND2	23066	broad.mit.edu	37	3	12859147	12859147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:12859147G>A	ENST00000456430.2	+	10	2757	c.2716G>A	c.(2716-2718)Gct>Act	p.A906T	CAND2_ENST00000295989.5_Missense_Mutation_p.A813T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	906					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCAGATCGAGGCTGAGCCCCG	0.672000													40	49					0	0	0.007835	0	0
COPA	1314	broad.mit.edu	37	1	160261985	160261985	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:160261985C>T	ENST00000241704.7	-	29	3193	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	COPA_ENST00000368069.3_Silent_p.K997K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	988					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCTGCATCCTTCCTGGAAA	0.498000													197	98					0	0	0.014410	0	0
CCDC141	285025	broad.mit.edu	37	2	179714790	179714790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179714790C>T	ENST00000420890.2	-	21	3460	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E540K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	540							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTTTTCTTCGAGCTCTGTG	0.323000													23	38					0	0	0.002780	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229467	8229467	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:8229467G>A	ENST00000539824.1	+	12	2192	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	SH3TC1_ENST00000245105.3_Silent_p.E682E			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	682							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGCAGCCCGAGGAGGCCCTGC	0.701000													18	11					0	0	0.007413	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188515	70188515	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:70188515G>A	ENST00000320256.4	-	1	882	c.306C>T	c.(304-306)gtC>gtT	p.V102V		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	102					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AAGGTTCCGGGACGAAGGCAT	0.577000													22	45					0	0	0.004656	0	0
CYC1	1537	broad.mit.edu	37	8	145151615	145151615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:145151615C>T	ENST00000318911.4	+	5	813	c.740C>T	c.(739-741)cCc>cTc	p.P247L		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	247					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCTCCCATCTACACA	0.582000													18	24					0	0	0.007413	0	0
AANAT	15	broad.mit.edu	37	17	74464885	74464885	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74464885G>A	ENST00000250615.3	+	5	1199	c.192G>A	c.(190-192)ggG>ggA	p.G64G	AANAT_ENST00000392492.3_Silent_p.G19G	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	19	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGCCACCTGGGATCCCCGAGT	0.662000													8	22					0	0	0.003080	0	0
ACAN	176	broad.mit.edu	37	15	89401231	89401231	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:89401231C>T	ENST00000439576.2	+	12	5789	c.5415C>T	c.(5413-5415)ttC>ttT	p.F1805F	ACAN_ENST00000352105.7_Silent_p.F1805F|ACAN_ENST00000559004.1_Silent_p.F1805F|ACAN_ENST00000561243.1_Silent_p.F1805F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1805					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACCAGGGTTCAGTGGGGCAA	0.512000													16	26					0	0	0.004990	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852081	38852081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:38852081C>T	ENST00000310803.5	-	2	338	c.161G>A	c.(160-162)gGa>gAa	p.G54E	RASGRP1_ENST00000450598.2_Missense_Mutation_p.G54E|RASGRP1_ENST00000559830.1_Missense_Mutation_p.G54E|RASGRP1_ENST00000558164.1_Missense_Mutation_p.G54E|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G105E|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G6E	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	54	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi 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)		GGCTAAATGTCCCAGAGACAC	0.512000													26	22					0	0	0.007291	0	0
MMP20	9313	broad.mit.edu	37	11	102496038	102496038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:102496038G>A	ENST00000260228.2	-	1	25	c.13C>T	c.(13-15)Cct>Tct	p.P5S	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	5					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGATGCAGGGAGCACCTTC	0.532000													9	7					0	0	0.004482	0	0
CORO2B	10391	broad.mit.edu	37	15	69007569	69007569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:69007569C>T	ENST00000543950.1	+	8	1225	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	CORO2B_ENST00000566799.1_Missense_Mutation_p.R296W|CORO2B_ENST00000261861.5_Missense_Mutation_p.R291W|CORO2B_ENST00000540068.1_Missense_Mutation_p.R291W	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	296					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						TGGAAACATCCGGTACTACGA	0.607000													37	78					0	0	0.008740	0	0
MPP2	4355	broad.mit.edu	37	17	41957311	41957311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:41957311C>T	ENST00000269095.4	-	11	1496	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	MPP2_ENST00000520305.1_Missense_Mutation_p.G259S|MPP2_ENST00000536246.1_Missense_Mutation_p.G387S|MPP2_ENST00000377184.3_Missense_Mutation_p.G415S|MPP2_ENST00000518766.1_Missense_Mutation_p.G443S|MPP2_ENST00000523501.1_Missense_Mutation_p.G387S|MPP2_ENST00000461854.1_Missense_Mutation_p.G422S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	422	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAGCTGTAACCCTGACCTTCC	0.612000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	52					0	0	0.012213	0	0
AKAP9	10142	broad.mit.edu	37	7	91714235	91714235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:91714235C>T	ENST00000359028.2	+	35	9050	c.8825C>T	c.(8824-8826)tCc>tTc	p.S2942F	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2938F|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2942					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCAACAGATTCCTTTCCAAAG	0.378000			T	BRAF	papillary thyroid								39	57					0	0	0.006230	0	0
NFE2	4778	broad.mit.edu	37	12	54686866	54686866	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:54686866G>A	ENST00000540264.2	-	2	923	c.414C>T	c.(412-414)ccC>ccT	p.P138P	NFE2_ENST00000553070.1_Silent_p.P138P|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.P138P|NFE2_ENST00000312156.4_Silent_p.P138P			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	138	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGTCTTCTTGGGGCTTAGGTG	0.597000													33	62					0	0	0.003271	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600011	28600011	+	RNA	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28600011G>A	ENST00000568624.1	-	0	395																											TTTGAACCTGGGCCTTTGGGA	0.483000													16	85					0	0	0.004990	0	0
KCNH6	81033	broad.mit.edu	37	17	61621705	61621705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61621705G>A	ENST00000583023.1	+	12	2448	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	KCNH6_ENST00000456941.2_Missense_Mutation_p.E724K|KCNH6_ENST00000314672.5_Missense_Mutation_p.E777K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E724K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	813					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGCCCTCAGGAAGACCCAGA	0.622000													41	16					0	0	0.006999	0	0
C1QL2	165257	broad.mit.edu	37	2	119915271	119915271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:119915271G>A	ENST00000272520.3	-	1	1194	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	192	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAACTTGCCCGTGGTGGGGTC	0.592000										HNSCC(49;0.14)			6	26					0	0	0.004482	0	0
MUC2	4583	broad.mit.edu	37	11	1093803	1093803	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:1093803C>T	ENST00000441003.2	+	30	5649	c.5622C>T	c.(5620-5622)acC>acT	p.T1874T	MUC2_ENST00000333592.6_Silent_p.T162T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1888						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTCAACCACCCTTCTGAGTA	0.617000													81	127					0	0	0.014410	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:81944272C>T	ENST00000359376.3	+	18	2095	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000													87	135					0	0	0.014410	0	0
FERMT1	55612	broad.mit.edu	37	20	6088183	6088183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:6088183G>A	ENST00000217289.4	-	6	1633	c.845C>T	c.(844-846)cCt>cTt	p.P282L	FERMT1_ENST00000536936.1_Missense_Mutation_p.P25L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	282	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTACTTTAGGATTCAAGTC	0.353000													8	22					0	0	0.003080	0	0
CTIF	9811	broad.mit.edu	37	18	46190122	46190122	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:46190122G>A	ENST00000256413.3	+	4	547		c.e4-1		CTIF_ENST00000382998.4_Splice_Site	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ATCTCTTCCAGAATGGCAGCA	0.607000											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	48					0	0	0.003755	0	0
VCAN	1462	broad.mit.edu	37	5	82816938	82816938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:82816938C>T	ENST00000265077.3	+	7	3378	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S890F|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S938F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	938	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S938Y(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGCCAGTATCTACTGTTCCC	0.438000													32	67					0	0	0.012213	0	0
GCAT	23464	broad.mit.edu	37	22	38209569	38209569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:38209569C>T	ENST00000323205.6	+	4	670	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	GCAT_ENST00000248924.6_Missense_Mutation_p.R177C	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	177					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTACCGCTATCGCCACCTGGA	0.662000													16	23					0	0	0.002780	0	0
USHBP1	83878	broad.mit.edu	37	19	17367358	17367358	+	Silent	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:17367358G>A	ENST00000252597.3	-	9	1565	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A	USHBP1_ENST00000431146.2_Silent_p.A400A	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	464							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						TCCCCAGAATGGCCTGCACCA	0.612000													50	74					0	0	0.014410	0	0
NF1	4763	broad.mit.edu	37	17	29654857	29654857	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:29654857G>A	ENST00000358273.4	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_ENST00000356175.3_Splice_Site_p.R1849_splice|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1870					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	35					0	0	0.010504	0	0
CD55	1604	broad.mit.edu	37	1	207504512	207504512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:207504512C>T	ENST00000367064.3	+	6	982	c.724C>T	c.(724-726)Cat>Tat	p.H242Y	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Missense_Mutation_p.H242Y|CD55_ENST00000367065.5_Missense_Mutation_p.H242Y|CD55_ENST00000391921.4_Missense_Mutation_p.H178Y|CD55_ENST00000367063.2_Missense_Mutation_p.H242Y|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.H242Y|CD55_ENST00000314754.8_Missense_Mutation_p.H242Y	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	242	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	p.H242Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GGAACGTGACCATTATGGATA	0.323000													21	88					0	0	0.014323	0	0
ZNF578	147660	broad.mit.edu	37	19	53013881	53013881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53013881G>A	ENST00000421239.2	+	6	491	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGGCAATACAGAAGTGATCCA	0.378000													64	95					0	0	0.014410	0	0
ZNF679	168417	broad.mit.edu	37	7	63726696	63726696	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:63726696A>G	ENST00000421025.1	+	5	954	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	ZNF679_ENST00000255746.4_Missense_Mutation_p.K229E	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AACCCTTTCTAAACATAAAAG	0.398000													7	12					0	0	0.001984	0	0
HIPK1	204851	broad.mit.edu	37	1	114495410	114495410	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:114495410delT	ENST00000369558.1	+	3	1331	c.1099delT	c.(1099-1101)tafs	p.L367fs	HIPK1_ENST00000369555.2_Frame_Shift_Del_p.L367fs|HIPK1_ENST00000369559.4_Frame_Shift_Del_p.L367fs|HIPK1_ENST00000369561.4_Frame_Shift_Del_p.L367fs|HIPK1_ENST00000340480.4_5'UTR|HIPK1_ENST00000369554.2_Frame_Shift_Del_p.L367fs|HIPK1_ENST00000426820.2_Frame_Shift_Del_p.L367fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	367	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTCTTGGGTTACCATTTTG	0.358													24	47	---	---	---	---					
CSDE1	7812	broad.mit.edu	37	1	115276684	115276687	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:115276684_115276687delAGTG	ENST00000438362.2	-	8	1150_1153	c.772_775delCACT	c.(772-777)atfs	p.HY258fs	CSDE1_ENST00000261443.5_Frame_Shift_Del_p.HY181fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.HY212fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.HY212fs|CSDE1_ENST00000369530.1_Frame_Shift_Del_p.HY227fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.HY181fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.HY82fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	212					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA 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)		AATTCACTATAGTGAAAGAATATC	0.348													12	32	---	---	---	---					
NR1I3	9970	broad.mit.edu	37	1	161203046	161203058	+	Frame_Shift_Del	DEL	ACTCAGTTGCACA	ACTCAGTTGCACA	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161203046_161203058delACTCAGTTGCACA	ENST00000367983.4	-	4	603_615	c.309_321delTGTGCAACTGAGT	c.(307-321)ccfs	p.PVQLS103fs	NR1I3_ENST00000515452.1_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000512372.1_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000508740.1_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000437437.2_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000515621.1_Frame_Shift_Del_p.PVQLS28fs|NR1I3_ENST00000506209.1_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000442691.2_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000505005.1_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000367980.2_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000504010.1_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000412844.2_Frame_Shift_Del_p.PVQLS74fs|NR1I3_ENST00000367984.4_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000428574.2_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000367979.2_Frame_Shift_Del_p.PVQLS103fs|NR1I3_ENST00000367982.4_Frame_Shift_Del_p.PVQLS103fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	103					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTTGCTCCTTACTCAGTTGCACAGGTGTTTGCT	0.577													40	110	---	---	---	---					
MPZL1	9019	broad.mit.edu	37	1	167741625	167741625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:167741625delT	ENST00000359523.2	+	3	574	c.372delT	c.(370-372)aafs	p.N124fs	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Frame_Shift_Del_p.N124fs	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	124	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACATAGAAAATATGCAGTTTA	0.428													15	78	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													8	257	---	---	---	---					
ETAA1	54465	broad.mit.edu	37	2	67631180	67631180	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:67631180delT	ENST00000272342.5	+	5	1496	c.1366delT	c.(1366-1368)tafs	p.L456fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	456						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGACAGAGAATTAATAGATGC	0.289													11	20	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142655437	142655438	+	In_Frame_Ins	INS	-	-	CAAGTGTAT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142655437_142655438insCAAGTGTAT	ENST00000355265.2	-	5	952_953	c.478_479insATACACTTG	c.(478-480)cat>ATACACTTGcat	p.159_160insIHL	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	159					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCTTCAATGGCAAGTGTATCC	0.480													16	113	---	---	---	---					
TMEM66	51669	broad.mit.edu	37	8	29923641	29923641	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:29923641delA	ENST00000256255.6	-	5	1114	c.857delT	c.(856-858)tcfs	p.F286fs	TMEM66_ENST00000536273.1_Frame_Shift_Del_p.F114fs|TMEM66_ENST00000545648.1_Frame_Shift_Del_p.F114fs	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	286						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CGAGTCTGAGAAGGGTGTTGC	0.463													28	50	---	---	---	---					
KIF20B	9585	broad.mit.edu	37	10	91497608	91497609	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:91497608_91497609delAT	ENST00000416354.1	+	20	3172_3173	c.3100_3101delAT	c.(3100-3102)afs	p.I1034fs	KIF20B_ENST00000371728.3_Frame_Shift_Del_p.I1004fs|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.I1004fs|KIF20B_ENST00000260753.4_Frame_Shift_Del_p.I964fs|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1004					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATTTCAAACATAGATTTGCTC	0.332													23	30	---	---	---	---					
SSH1	54434	broad.mit.edu	37	12	109210894	109210894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:109210894delG	ENST00000326495.5	-	5	414	c.321delC	c.(319-321)tafs	p.Y107fs	SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Frame_Shift_Del_p.Y118fs|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Frame_Shift_Del_p.Y107fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	107					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCACCACCATGTACCGGACCC	0.607													29	71	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													7	428	---	---	---	---					
CIT	11113	broad.mit.edu	37	12	120156088	120156088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120156088delG	ENST00000392521.2	-	32	4185	c.4130delC	c.(4129-4131)cgfs	p.P1378fs	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Frame_Shift_Del_p.P1336fs	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1336					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGGATGGCGGGGCCAGCAG	0.577													14	24	---	---	---	---					
GPR132	29933	broad.mit.edu	37	14	105518091	105518094	+	Frame_Shift_Del	DEL	ACGT	ACGT	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105518091_105518094delACGT	ENST00000329797.3	-	4	1291_1294	c.380_383delACGT	c.(379-384)tcfs	p.YV127fs	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Frame_Shift_Del_p.YV127fs|GPR132_ENST00000392585.2_Frame_Shift_Del_p.YV118fs	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	127					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGGATGCTGACGTAGATGTTGCA	0.637													63	102	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)gafs	p.G279fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	279					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	p.G279V(1)|p.G279fs*25(1)		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)		GGGGATGCTTCCTGGCCCTTT	0.592													8	59	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3979949	3979949	+	Frame_Shift_Del	DEL	G	G	-	rs7207986	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:3979949delG	ENST00000381638.2	-	21	3340	c.3216delC	c.(3214-3216)ccfs	p.P1072fs	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1072							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCCTCCTTCGGGGCCACTAC	0.547													5	9	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													3	4	---	---	---	---					
EFTUD2	9343	broad.mit.edu	37	17	42929896	42929896	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:42929896delA	ENST00000426333.2	-	26	2893	c.2596delT	c.(2596-2598)ccfs	p.S866fs	EFTUD2_ENST00000591382.1_Frame_Shift_Del_p.S866fs|EFTUD2_ENST00000592576.1_Frame_Shift_Del_p.S856fs|EFTUD2_ENST00000402521.3_Frame_Shift_Del_p.S831fs	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	866						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TACAGAGGGGAGCCTGGGATG	0.522													26	44	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465991	59465992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:59465991_59465992insA	ENST00000589222.1	+	25	2740_2741	c.2672_2673insA	c.(2671-2673)gaafs	p.E891fs	BCAS3_ENST00000408905.3_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000407086.3_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAAAAAAAGGAAAAAAAAAAC	0.431													3	4	---	---	---	---					
CACTIN	58509	broad.mit.edu	37	19	3624103	3624104	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:3624103_3624104insG	ENST00000429344.2	-	2	276_277	c.224_225insC	c.(223-225)ccgfs	p.P75fs	CACTIN_ENST00000221899.3_Frame_Shift_Ins_p.P7fs|CACTIN_ENST00000248420.5_Frame_Shift_Ins_p.P75fs	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		ACTTGGGCCGCGGGGGGCTCCG	0.673													58	112	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:33949090_33949091insC	ENST00000300258.3	-	5	754_755	c.641_642insG	c.(640-642)ggtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						ATCTTCAGACACCCCCCCGTCT	0.480													44	56	---	---	---	---