Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:38793949G>A	uc003ciq.3	-	10	1516	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	506					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCGGAAATGGAACACACTG	0.567000														0			9		0	0	0.000673444	0	0
PHEX	5251	broad.mit.edu	37	X	22196406	22196407	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:22196406_22196407CC>TT	uc004dah.3	+	13	1702_1703	c.1499_1500CC>TT	c.(1498-1500)gcc>gTT	p.A500V	PHEX_uc011mjr.2_Missense_Mutation_p.A500V|PHEX_uc011mjs.2_Missense_Mutation_p.A403V	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	500					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTTCAGAAGCCGACTACTTTG	0.366000														25			21		0	0	6.4e-05	0	0
CLCN4	1183	broad.mit.edu	37	X	10188760	10188760	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:10188760G>A	uc004csy.4	+	11	2465	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	CLCN4_uc011mid.2_Missense_Mutation_p.E585K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	679						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCACGGAGGAACCCCCCGA	0.567000														79			57		0	0	0.000781405	0	0
FOLR4	390243	broad.mit.edu	37	11	94039810	94039810	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:94039810C>T	uc021qou.1	+	1	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	90						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGAAGCACTTCATCCAGGCTA	0.572000														52			50		0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	2942419	2942419	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:2942419G>A	uc003bpc.3	+	10	1330	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	CNTN4_uc003bpb.1_Missense_Mutation_p.E3K|CNTN4_uc021wsg.1_Missense_Mutation_p.E331K|CNTN4_uc003bpd.1_Missense_Mutation_p.E331K|CNTN4_uc003bpe.3_Missense_Mutation_p.E3K|CNTN4_uc003bpf.3_Missense_Mutation_p.E3K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	331	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGCCATGGAAGAAAATGTCTT	0.378000														0			24		0	0	0.000586117	0	0
EIF2C2	27161	broad.mit.edu	37	8	141572558	141572558	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:141572558G>A	uc003yvn.3	-	3	553	c.512C>T	c.(511-513)tCc>tTc	p.S171F	EIF2C2_uc010meo.3_Missense_Mutation_p.S171F|EIF2C2_uc010men.3_Missense_Mutation_p.S94F	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	171					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCACCTCATGGATGGCAAGTG	0.642000														32			25		0	0	0.00106085	0	0
HOXC6	3223	broad.mit.edu	37	12	54422381	54422381	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:54422381C>T	uc001sev.3	+	0	188	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	HOXC6_uc001ses.3_5'UTR|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	26					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACGTCGCCCTCAATTCCAC	0.567000														34			29		0	0	0.000184323	0	0
EPRS	2058	broad.mit.edu	37	1	220170519	220170519	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:220170519G>A	uc001hly.1	-	17	2617	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Nonsense_Mutation_p.Q534*|EPRS_uc001hlz.1_Nonsense_Mutation_p.Q790*	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	783	3 X 57 AA approximate repeats.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GACAAAAGCTGTTTTACAGCT	0.393000														39			40		0	0	0.000270559	0	0
KRT4	3851	broad.mit.edu	37	12	53207706	53207706	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:53207706C>T	uc001saz.3	-	0	359	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	46						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGCCAAATCCCCCAGAAGA	0.602000														81			88		0	0	0.000781405	0	0
RNF5P1	286140	broad.mit.edu	37	8	38458370	38458371	+	Missense_Mutation	DNP	CG	AT	AT	rs112046125	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:38458370_38458371CG>AT	uc003xly.3	-	0	405_406	c.348_349CG>AT	c.(346-351)accggg>acATgg	p.G117W						Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																		TGGAAGCCCCCGGTATCACCAA	0.574000														433			8		0	0	6.4e-05	0	0
CCDC91	55297	broad.mit.edu	37	12	28460621	28460621	+	Missense_Mutation	SNP	G	A	A	rs148160409		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:28460621G>A	uc001riq.3	+	4	529	c.515G>A	c.(514-516)gGc>gAc	p.G172D	CCDC91_uc001rio.3_Missense_Mutation_p.G142D|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.G172D|CCDC91_uc009zjl.3_Missense_Mutation_p.G10D	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	172					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAGAAAAAGGCTTTCTAAAA	0.279000														8			3		0	0	0.00024832	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620064	40620064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:40620064C>T	uc002hzs.3	+	3	400	c.233C>T	c.(232-234)cCg>cTg	p.P78L	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.P78L|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.P78L|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.P78L|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.P78L|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P78L	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	78					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTAACATTCCGATTATGGAC	0.393000														2			21		0	0	0.00047179	0	0
KLF11	8462	broad.mit.edu	37	2	10188397	10188398	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:10188397_10188398GG>TT	uc002raf.1	+	2	1095_1096	c.933_934GG>TT	c.(931-936)gtgggg>gtTTgg	p.G312W	KLF11_uc021vdq.1_Missense_Mutation_p.G295W|KLF11_uc010yjc.2_Missense_Mutation_p.G295W	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	312					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V311V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGTTGTCTGTGGGGACTGTGAG	0.579000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		683			13		0	0	6.4e-05	0	0
BMP10	27302	broad.mit.edu	37	2	69098191	69098191	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:69098191G>A	uc002sez.1	-	0	459	c.300C>T	c.(298-300)ccC>ccT	p.P100P		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	100					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGTTGGCAGAGGGCATGGAGG	0.418000														61			59		0	0	0.000781405	0	0
COL4A6	1288	broad.mit.edu	37	X	107415699	107415699	+	Splice_Site	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107415699C>A	uc004enw.4	-	32	3308	c.3205_splice	c.e32+1	p.G1069_splice	COL4A6_uc004env.4_Splice_Site_p.G1068_splice|COL4A6_uc011msn.2_Splice_Site_p.G1068_splice|COL4A6_uc010npk.3_Splice_Site_p.G1068_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1069	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGCTCCTTACCTTTCAGGCCT	0.418000									Alport syndrome with Diffuse Leiomyomatosis					250			87		8.34767e-46	1.31044e-44	0.000781405	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106093294	106093295	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:106093294_106093295GG>TT	uc004emo.3	+	11	2042_2043	c.1877_1878GG>TT	c.(1876-1878)agg>aTT	p.R626I	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	626	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAACTTATCAGGGATCACCTTC	0.376000														184			7		0	0	6.4e-05	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387775	1387775	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:1387775C>T	uc001aft.2	+	2	1178	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	61							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAAGGATTCCGTGCCTTTG	0.577000														41			46		0	0	0.000781405	0	0
FBXW7	55294	broad.mit.edu	37	4	153247304	153247304	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:153247304G>A	uc003ims.3	-	9	1660	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	FBXW7_uc011cii.2_Missense_Mutation_p.H500Y|FBXW7_uc003imt.3_Missense_Mutation_p.H500Y|FBXW7_uc011cih.2_Missense_Mutation_p.H324Y|FBXW7_uc003imq.3_Missense_Mutation_p.H420Y|FBXW7_uc003imr.3_Missense_Mutation_p.H382Y	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	500					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.H500N(2)|p.H420N(1)|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)				GCTGCAACATGACCCATCAAA	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									0			47		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801294	140801294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140801294C>T	uc003lkq.2	+	0	758	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.S167F|PCDHGC5_uc003lkp.2_Missense_Mutation_p.S167F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGAACTCCCTCCAGAGC	0.532000														0			16		0	0	0.000422831	0	0
GPR115	221393	broad.mit.edu	37	6	47681964	47681964	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:47681964G>A	uc003oyz.1	+	6	1154	c.1154G>A	c.(1153-1155)aGg>aAg	p.R385K	GPR115_uc003oza.1_Missense_Mutation_p.R328K|GPR115_uc003ozb.1_Missense_Mutation_p.R328K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	328	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTACCAGAAAGGTTGCAAGAA	0.478000														45			51		0	0	0.000781405	0	0
HGF	3082	broad.mit.edu	37	7	81388044	81388044	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:81388044C>T	uc003uhl.3	-	2	496	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	HGF_uc003uhm.3_Missense_Mutation_p.E111K|HGF_uc003uhn.1_Missense_Mutation_p.E111K|HGF_uc003uho.1_Missense_Mutation_p.E111K|HGF_uc003uhp.3_Missense_Mutation_p.E111K|HGF_uc022agw.1_Missense_Mutation_p.E111K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	111	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGGCCAAATTCTTTTTTCACT	0.313000														50			48		0	0	0.000781405	0	0
SPOP	8405	broad.mit.edu	37	17	47688703	47688704	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:47688703_47688704GA>AT	uc002ipg.3	-	5	893_894	c.596_597TC>AT	c.(595-597)ttc>tAT	p.F199Y	SPOP_uc010dbk.3_Missense_Mutation_p.F199Y|SPOP_uc002ipb.3_Missense_Mutation_p.F199Y|SPOP_uc002ipc.3_Missense_Mutation_p.F199Y|SPOP_uc002ipd.3_Missense_Mutation_p.F199Y|SPOP_uc002ipe.3_Missense_Mutation_p.F199Y|SPOP_uc002ipf.3_Missense_Mutation_p.F199Y	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	199	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGCAGTCTGTGAACCGGGAATT	0.470000										Prostate(2;0.17)				1			82		0	0	6.4e-05	0	0
EVPL	2125	broad.mit.edu	37	17	74003575	74003575	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:74003575G>A	uc010wss.1	-	21	6005	c.5777C>T	c.(5776-5778)aCc>aTc	p.T1926I	EVPL_uc002jqi.2_Missense_Mutation_p.T1904I|EVPL_uc010wst.1_Missense_Mutation_p.T1374I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1904	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCGATGCCGGTGAAGGCCTT	0.647000														21			26		0	0	0.000184323	0	0
FAM46B	115572	broad.mit.edu	37	1	27332474	27332474	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:27332474G>A	uc010ofj.2	-	1	1411	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	413										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAGCCAGGAGAGGTTGCA	0.662000														46			37		0	0	0.000374591	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015883	145015884	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:145015883_145015884GG>TT	uc001elx.4	-	2	587_588	c.204_205CC>AA	c.(202-207)acccag>acAAag	p.Q69K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Missense_Mutation_p.Q69K|PDE4DIP_uc001elo.3_Missense_Mutation_p.Q140K|PDE4DIP_uc001emh.3_Missense_Mutation_p.Q140K|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	1934					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGAAGAGCCTGGGTCTGTACCT	0.446000			T	PDGFRB	MPD									717			13		0	0	6.4e-05	0	0
PLCH1	23007	broad.mit.edu	37	3	155211994	155211994	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:155211994G>A	uc021xge.1	-	15	2359	c.2082C>T	c.(2080-2082)aaC>aaT	p.N694N	PLCH1_uc021xgd.1_Silent_p.N694N|PLCH1_uc021xgf.1_Silent_p.N676N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	694	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q693K(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTTGGCTCGGTTTAACTGCA	0.413000														0			34		0	0	0.000814825	0	0
ZNF211	10520	broad.mit.edu	37	19	58152816	58152816	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:58152816C>T	uc002qpr.2	+	5	1457	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ZNF211_uc010yhb.1_Missense_Mutation_p.S325L|ZNF211_uc002qpp.2_Missense_Mutation_p.S334L|ZNF211_uc002qpq.2_Missense_Mutation_p.S321L|ZNF211_uc002qpt.2_Missense_Mutation_p.S333L|ZNF211_uc010yhc.1_Missense_Mutation_p.S333L|ZNF211_uc010yhe.1_Missense_Mutation_p.S312L|ZNF211_uc010yhd.1_Missense_Mutation_p.S260L	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	321						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)		TGTGGGAAATCGTTTAGTCAG	0.413000														40			24		0	0	0.00047179	0	0
DDOST	1650	broad.mit.edu	37	1	20987434	20987434	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:20987434G>A	uc001bdo.1	-	1	399	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Intron	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	86					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTTTATGAGAGACAGGCTG	0.512000														22			13		0	0	0.000566183	0	0
ZNF672	79894	broad.mit.edu	37	1	249142360	249142360	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:249142360C>T	uc001iex.3	+	3	1582	c.887C>T	c.(886-888)tCc>tTc	p.S296F	ZNF672_uc021pme.1_Missense_Mutation_p.S296F	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCAGCGCTCCGACCTGGTG	0.697000														5			4		0	0	0.00024832	0	0
NONO	4841	broad.mit.edu	37	X	70518652	70518652	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70518652G>A	uc004dzo.3	+	11	1977	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.G423R|NONO_uc004dzp.3_Missense_Mutation_p.G423R|NONO_uc011mpv.2_Missense_Mutation_p.G334R|NONO_uc004dzq.3_Missense_Mutation_p.G292R|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	423					DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GATGCCGGATGGAACTTTGGG	0.532000			T	TFE3	papillary renal cancer									31			9		0	0	0.000422831	0	0
GNGT1	2792	broad.mit.edu	37	7	93540182	93540182	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:93540182G>A	uc003unc.1	+	2	325	c.177G>A	c.(175-177)gaG>gaA	p.E59E	GNGT1_uc003umx.1_Non-coding_Transcript	NM_021955	NP_068774	P63211	GBG1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA.	59					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCATCCCAGAGGACAAAAATC	0.378000														18			16		0	0	0.000422831	0	0
ALG6	29929	broad.mit.edu	37	1	63894447	63894447	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:63894447T>A	uc021oof.1	+	12	1407	c.1102T>A	c.(1102-1104)Tgg>Agg	p.W368R	ALG6_uc010oox.2_Missense_Mutation_p.W115R	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	368					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TATGTCTACTTGGTTTTTACT	0.244000														50			54		0	0	0.000781405	0	0
CCNA1	8900	broad.mit.edu	37	13	37011825	37011825	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:37011825G>A	uc001uvr.4	+	2	707	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CCNA1_uc010teo.2_Silent_p.K75K|CCNA1_uc010abq.3_Silent_p.K75K|CCNA1_uc010abp.3_Silent_p.K75K|CCNA1_uc001uvs.4_Silent_p.K118K|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	119					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGAAAGAAAGCACTCC	0.488000														40			39		0	0	0.00111076	0	0
TLN2	83660	broad.mit.edu	37	15	63089500	63089500	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63089500C>A	uc002alb.4	+	44	6133	c.6133C>A	c.(6133-6135)Ctg>Atg	p.L2045M	TLN2_uc002alc.4_Missense_Mutation_p.L438M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2045					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCCTGACAAGCTGGCCCAGGC	0.627000														54			41		6.21074e-16	9.64005e-15	0.000589545	1	0
TEX101	83639	broad.mit.edu	37	19	43920355	43920355	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:43920355G>A	uc002owk.3	+	5	784	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	TEX101_uc010xwo.2_Missense_Mutation_p.G57R	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	57						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TTGTGACAAAGGGGCACTTTG	0.468000														39			32		0	0	0.00058488	0	0
ATRX	546	broad.mit.edu	37	X	76845316	76845317	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:76845316_76845317GG>AA	uc004ecp.4	-	26	6436_6437	c.6204_6205CC>TT	c.(6202-6207)cccctt>ccTTtt	p.L2069F	ATRX_uc004ecq.4_Missense_Mutation_p.L2031F|ATRX_uc004eco.4_Missense_Mutation_p.L1854F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2069	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTATAAATAAGGGGTTTATCTT	0.312000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							91			25		0	0	6.4e-05	0	0
COL11A2	1302	broad.mit.edu	37	6	33153498	33153499	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:33153498_33153499CC>AA	uc003ocx.1	-	5	1083_1084	c.855_856GG>TT	c.(853-858)acgggg>acTTgg	p.G286W	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	286	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGTTGTCCCCGTAGTCATCA	0.535000														116			7		0	0	6.4e-05	0	0
FMNL3	91010	broad.mit.edu	37	12	50043558	50043558	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:50043558G>T	uc001ruv.1	-	17	2385	c.2151C>A	c.(2149-2151)ttC>ttA	p.F717L	FMNL3_uc001ruw.1_Missense_Mutation_p.F666L|FMNL3_uc001rut.1_Missense_Mutation_p.F283L|FMNL3_uc001ruu.1_Missense_Mutation_p.F567L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	717	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCACCTTGCTGAAGAGCAGCA	0.612000														50			56		5.22555e-25	8.15679e-24	0.000781405	1	0
ADAM30	11085	broad.mit.edu	37	1	120437038	120437039	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:120437038_120437039CG>AT	uc001eij.3	-	0	2109_2110	c.1921_1922CG>AT	c.(1921-1923)cgg>ATg	p.R641M		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	641	EGF-like.				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)		GCAAACACCCCGGGTATTGCAT	0.490000														709			14		0	0	6.4e-05	0	0
ASPG	374569	broad.mit.edu	37	14	104570991	104570991	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:104570991C>T	uc001yop.2	+	8	1054	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ASPG_uc001yoo.2_Silent_p.F351F|ASPG_uc001yoq.2_Silent_p.F323F|ASPG_uc001yor.2_Silent_p.F323F	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	323	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TCTCAGGCTTCGACATGACAT	0.687000														16			15		0	0	0.000219431	0	0
ASIC5	51802	broad.mit.edu	37	4	156775294	156775294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:156775294C>T	uc003ipe.1	-	2	567	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	174						integral to membrane|plasma membrane											AGATAAAAACCTTTGTTCCTG	0.368000														2			5		0	0	3.59834e-05	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919467	94919467	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:94919467T>G	uc003unp.3	+	15	3431	c.3149T>G	c.(3148-3150)aTg>aGg	p.M1050R	PPP1R9A_uc010lfj.3_Missense_Mutation_p.M1326R|PPP1R9A_uc011kif.2_Missense_Mutation_p.M1248R|PPP1R9A_uc003unq.3_Missense_Mutation_p.M1205R|PPP1R9A_uc011kig.2_Missense_Mutation_p.M1042R|PPP1R9A_uc003unr.3_Missense_Mutation_p.M339R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	1050	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAATGAAGATGTCTCTAGAG	0.423000										HNSCC(28;0.073)				19			12		0	0	0.00010058	0	0
NBL1	4681	broad.mit.edu	37	1	19981520	19981520	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:19981520G>A	uc001bcj.2	+	1	185	c.102G>A	c.(100-102)acG>acA	p.T34T	NBL1_uc021ohw.1_Silent_p.T13T|NBL1_uc009vpl.2_5'UTR|NBL1_uc009vpm.2_5'UTR|NBL1_uc001bck.2_5'UTR|NBL1_uc021ohy.1_5'UTR|NBL1_uc021ohz.1_Silent_p.T33T	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	0	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCCACGGGCATGATGC	0.627000														19			15		0	0	0.00074312	0	0
PER1	5187	broad.mit.edu	37	17	8049754	8049754	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:8049754G>A	uc002gkd.3	-	15	2212	c.1974C>T	c.(1972-1974)acC>acT	p.T658T	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.T642T	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	658	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGAGGAGGTGGTATAGGAGG	0.587000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						32			38		0	0	0.000953801	0	0
F10	2159	broad.mit.edu	37	13	113801733	113801733	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:113801733G>A	uc001vsx.3	+	6	845	c.788G>A	c.(787-789)gGa>gAa	p.G263E	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.G263E	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	263	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGTGGTGGAACCATTCTG	0.552000														27			25		0	0	0.000586117	0	0
TREML2	79865	broad.mit.edu	37	6	41162337	41162337	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:41162337C>T	uc010jxm.1	-	2	790	c.611G>A	c.(610-612)aGg>aAg	p.R204K		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	204					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCATGGTCCTCCTGGGTCC	0.612000														18			14		0	0	0.000219431	0	0
PRODH2	58510	broad.mit.edu	37	19	36304113	36304113	+	Missense_Mutation	SNP	G	A	A	rs145723152		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36304113G>A	uc002obx.1	-	0	89	c.71C>T	c.(70-72)aCc>aTc	p.T24I		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	24					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			tgaaaatacggttctcacgtt	0.423000														19			17		0	0	0.000422831	0	0
COMP	1311	broad.mit.edu	37	19	18898354	18898354	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:18898354C>T	uc002nke.3	-	9	1117	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	COMP_uc002nkd.3_Missense_Mutation_p.D328N|COMP_uc010xqj.2_Missense_Mutation_p.D308N	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	361			D -> V (in EDM1; Fairbank type).|D -> Y (in EDM1; binds less calcium).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGTCTGTGTCCTTTTGGTCG	0.687000														86			50		0	0	0.000781405	0	0
BSN	8927	broad.mit.edu	37	3	49689992	49689992	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:49689992C>T	uc003cxe.4	+	4	3117	c.3003C>T	c.(3001-3003)tcC>tcT	p.S1001S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1001					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTGTCCTCCCTAGAGGAGG	0.667000														1			21		0	0	0.00047179	0	0
GRID1	2894	broad.mit.edu	37	10	87373170	87373171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:87373170_87373171GG>AA	uc001kdl.1	-	14	2695_2696	c.2594_2595CC>TT	c.(2593-2595)ccc>cTT	p.P865L	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.P436L	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	865						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTCCTTGGGGGTCTCCTG	0.624000										Multiple Myeloma(13;0.14)				0			10		0	0	6.4e-05	0	0
DSG3	1830	broad.mit.edu	37	18	29049138	29049138	+	Missense_Mutation	SNP	C	T	T	rs61730311	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:29049138C>T	uc002kws.3	+	11	1832	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	575					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGAACAATCGGTGTGAGAT	0.527000														78			63		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41452109C>T	uc002yyq.1	-	24	4842	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1464	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTATGATTTCACTTATGCGC	0.458000														68			65		0	0	0.000781405	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713490	138713490	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:138713490T>C	uc003vum.1	-	2	730	c.718A>G	c.(718-720)Acc>Gcc	p.T240A		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	240										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGCTTGTAGGTGGAGATTATC	0.423000														44			37		0	0	0.000270559	0	0
CNDP1	84735	broad.mit.edu	37	18	72234659	72234659	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:72234659C>T	uc002llq.3	+	5	958	c.747C>T	c.(745-747)ttC>ttT	p.F249F	CNDP1_uc002lls.3_Silent_p.F52F	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	249					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACAGCTACTTCATGGTGGAGG	0.502000														30			34		0	0	0.00111076	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627436	43627437	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:43627436_43627437CC>AA	uc011lrb.2	-	3	1279_1280	c.1250_1251GG>TT	c.(1249-1251)tgg>tTT	p.W417F		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	417						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AGGGGAGGCCCCAGAAAAGCTG	0.495000														582			11		0	0	6.4e-05	0	0
COL4A6	1288	broad.mit.edu	37	X	107430354	107430355	+	Missense_Mutation	DNP	CG	AT	AT	rs140900431	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107430354_107430355CG>AT	uc004enw.4	-	22	2028_2029	c.1925_1926CG>AT	c.(1924-1926)ccg>cAT	p.P642H	COL4A6_uc004env.4_Missense_Mutation_p.P641H|COL4A6_uc011msn.2_Missense_Mutation_p.P641H|COL4A6_uc010npk.3_Missense_Mutation_p.P641H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	642	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTTGTTGTCCCGGTAATCCATC	0.525000									Alport syndrome with Diffuse Leiomyomatosis					721			13		0	0	6.4e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10464964	10464964	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:10464964G>T	uc003wtc.3	-	3	6873	c.6644C>A	c.(6643-6645)cCg>cAg	p.P2215Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2215					intracellular signal transduction			p.P2215Q(4)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGCCTCTAC	0.632000														212			8		0.000442599	0.00669401	0.000442599	1	0
NFASC	23114	broad.mit.edu	37	1	204953197	204953197	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:204953197A>G	uc010prc.2	+	20	2743	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.N834S|NFASC_uc001hbi.3_Missense_Mutation_p.N834S|NFASC_uc010prb.2_Missense_Mutation_p.N849S|NFASC_uc001hbk.1_Missense_Mutation_p.N644S|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	838	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGAGTCATGAACAGCACAGCC	0.572000														36			32		0	0	0.000339439	0	0
KCND2	3751	broad.mit.edu	37	7	119914695	119914695	+	Silent	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:119914695G>C	uc003vjj.1	+	0	974	c.9G>C	c.(7-9)gcG>gcC	p.A3A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	3	Interaction with KCNIP2.				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A3A(2)|p.A2V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCATGGCGGCGGGGGTGGCAG	0.607000														90			78		0	0	0.000781405	0	0
TRMT1	55621	broad.mit.edu	37	19	13226814	13226814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:13226814G>A	uc002mwj.2	-	1	557	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Nonsense_Mutation_p.Q103*|TRMT1_uc002mwl.3_Nonsense_Mutation_p.Q103*|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	103							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CACTCACTCTGGATTCCTTTG	0.597000														33			27		0	0	0.000339439	0	0
FER1L6	654463	broad.mit.edu	37	8	125072474	125072474	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:125072474C>T	uc003yqw.3	+	22	3134	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	976						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGACATCACCCAGATCTACC	0.572000														62			33		0	0	0.000437636	0	0
ASNS	440	broad.mit.edu	37	7	97493627	97493627	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:97493627G>A	uc003uot.4	-	3	937	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ASNS_uc011kin.2_Missense_Mutation_p.P61L|ASNS_uc011kio.2_Missense_Mutation_p.P123L|ASNS_uc003uou.4_Missense_Mutation_p.P144L|ASNS_uc003uov.4_Missense_Mutation_p.P144L|ASNS_uc003uox.4_Missense_Mutation_p.P61L	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	144	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTAAACAAAGGTCTGACTCC	0.338000														39			35		0	0	0.000228196	0	0
IRS4	8471	broad.mit.edu	37	X	107976722	107976723	+	Missense_Mutation	DNP	GG	TT	TT	rs28712105		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107976722_107976723GG>TT	uc004eoc.2	-	0	2885_2886	c.2852_2853CC>AA	c.(2851-2853)ccc>cAA	p.P951Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	951						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGACTGTCTGGGTTCAGCAAT	0.441000														794			14		0	0	6.4e-05	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139977	64139977	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64139977C>T	uc004dvu.3	-	2	538	c.382G>A	c.(382-384)Gag>Aag	p.E128K	ZC4H2_uc004dvv.3_Missense_Mutation_p.E105K|ZC4H2_uc022byd.1_Missense_Mutation_p.E105K|ZC4H2_uc022byc.1_Missense_Mutation_p.E105K|ZC4H2_uc011mow.2_Missense_Mutation_p.E128K|ZC4H2_uc011mov.2_Missense_Mutation_p.E105K|ZC4H2_uc004dvw.2_Missense_Mutation_p.E128K	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	128							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAAAGCTTCTCCTCTTCTTCA	0.532000														58			16		0	0	0.000958276	0	0
BLM	641	broad.mit.edu	37	15	91303999	91304000	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:91303999_91304000GG>TT	uc002bpr.3	+	6	1493_1494	c.1396_1397GG>TT	c.(1396-1398)ggg>TTg	p.G466L	BLM_uc010uqh.2_Missense_Mutation_p.G466L|BLM_uc010uqi.2_Missense_Mutation_p.G91L|BLM_uc010bnx.3_Missense_Mutation_p.G466L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	466					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGACTGTTTA	0.436000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					493			11		0	0	6.4e-05	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95553	95553	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrGL000209.1:95553C>T	uc002quk.1	+	7	994	c.939C>T	c.(937-939)tcC>tcT	p.S313S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	313							receptor activity										AAATCACTTCCCCTTCTCAGA	0.483000														4			91		0	0	0.000781405	0	0
NCAN	1463	broad.mit.edu	37	19	19329755	19329755	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:19329755G>A	uc002nlz.3	+	2	204	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	35					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAGCGAAAGGGGGCTCCACA	0.617000														29			17		0	0	0.000132079	0	0
SPATS2	65244	broad.mit.edu	37	12	49918674	49918674	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:49918674C>T	uc001rud.2	+	12	2310	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R441W|SPATS2_uc001ruf.2_Missense_Mutation_p.R441W	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	441						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCAGCCACTTCGGGAGGTAAC	0.478000														20			30		0	0	0.00058488	0	0
TPTE	7179	broad.mit.edu	37	21	10914443	10914443	+	Splice_Site	SNP	C	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:10914443C>G	uc002yip.1	-	21	1645	c.1277_splice	c.e21-1	p.R426_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.R408_splice|TPTE_uc002yir.1_Splice_Site_p.R388_splice|TPTE_uc010gkv.1_Splice_Site_p.R288_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	426	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)		CGTACATAACCTGTTCCAACA	0.308000														46			8		0	0	0.000157383	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407659	1407659	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:1407659G>A	uc010nct.2	+	6	673	c.351G>A	c.(349-351)gaG>gaA	p.E117E	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.E117E|CSF2RA_uc004cpq.2_Silent_p.E117E|CSF2RA_uc004cpn.2_Silent_p.E117E|CSF2RA_uc004cpo.2_Silent_p.E117E|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.E117E|CSF2RA_uc010ncv.2_Silent_p.E117E|CSF2RA_uc004cpr.2_Silent_p.E117E	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	117						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGAAGGGAGGGTACCGCTG	0.522000														144			140		0	0	0.000781405	0	0
SLC9A3	6550	broad.mit.edu	37	5	480074	480074	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:480074G>A	uc003jbe.2	-	9	1636	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	SLC9A3_uc011clx.1_Silent_p.S499S|BC013821_uc011cly.2_Non-coding_Transcript	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	508						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGTCGAAGTGGGACCACCTGT	0.607000														0			39		0	0	0.000781405	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799260	57799260	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:57799260C>T	uc010rjz.2	+	0	836	c.836C>T	c.(835-837)tCt>tTt	p.S279F	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				AAGGTGGTATCTGTCTTCTAC	0.483000														88			79		0	0	0.000781405	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504706	70504706	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:70504706C>T	uc011caq.2	-	2	1372	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.R218K|UGT2A1_uc021xox.1_Missense_Mutation_p.R218K|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	209					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTTTTAATCCTTTCACCAAA	0.408000														8			10		0	0	0.000442599	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713822	70713822	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:70713822C>T	uc010ttg.2	-	0	697	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TCTTCAAATTCCAACTGTTGG	0.443000														15			23		0	0	0.000295444	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079079	134079079	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:134079079C>T	uc003eqf.2	-	6	2043	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	AMOTL2_uc003eqg.1_Missense_Mutation_p.M584I|AMOTL2_uc003eqh.1_Missense_Mutation_p.M582I|AMOTL2_uc003eqe.1_Missense_Mutation_p.M209I	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	584										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGCCGCATCCATGGCAAACT	0.597000														1			15		0	0	0.000566183	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716366	18716366	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:18716366C>T	uc001rdt.3	+	26	3829	c.3713C>T	c.(3712-3714)tCa>tTa	p.S1238L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1279L|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1057L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1238	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGAAAAATCATTTGAGCAG	0.408000														14			21		0	0	0.000175454	0	0
OSCAR	126014	broad.mit.edu	37	19	54603039	54603039	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:54603039C>T	uc002qdd.3	-	3	262	c.145_splice	c.e3+1	p.V49_splice	OSCAR_uc002qcy.3_Splice_Site_p.V24_splice|OSCAR_uc002qcz.3_Splice_Site_p.V24_splice|OSCAR_uc002qda.3_Splice_Site_p.V24_splice|OSCAR_uc002qdb.3_Intron|OSCAR_uc010erc.3_Splice_Site|OSCAR_uc002qdc.3_Intron	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	24	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGCTACTCACCAGACGGAGTG	0.453000														36			30		0	0	0.000279167	0	0
LTBP2	4053	broad.mit.edu	37	14	75018965	75018965	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:75018965C>T	uc001xqa.3	-	5	1711	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	442					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)		GGGCGGGACCCCCTCCCTGGA	0.687000														13			15		0	0	0.000566183	0	0
RP1L1	94137	broad.mit.edu	37	8	10467361	10467362	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:10467361_10467362GG>TT	uc003wtc.3	-	3	4475_4476	c.4246_4247CC>AA	c.(4246-4248)ccg>AAg	p.P1416K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1416					intracellular signal transduction			p.P1416Q(2)|p.P1416P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCCATCCGGAGAGCTGGCC	0.594000														496			9		0	0	6.4e-05	0	0
INTS5	80789	broad.mit.edu	37	11	62415914	62415914	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:62415914G>A	uc001nud.3	-	1	1691	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	546					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGAGGCCAGAGAGGCTGACCA	0.622000														40			29		0	0	0.000409698	0	0
HAUS7	55559	broad.mit.edu	37	X	152722006	152722006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:152722006G>A	uc004fhn.2	-	5	1138	c.580C>T	c.(580-582)Ccg>Tcg	p.P194S	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.P194S|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	194					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						AGGGGCCACGGGTCGCACTCT	0.622000														4			11		0	0	0.000978159	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569005	115569005	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:115569005G>A	uc004eqi.3	+	1	227	c.96G>A	c.(94-96)gaG>gaA	p.E32E	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	32					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AAAATGATGAGAATCAGGACC	0.393000														257			81		0	0	0.000781405	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149846	42149846	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:42149846C>T	uc001zos.3	-	49	8517	c.8184G>A	c.(8182-8184)gaG>gaA	p.E2728E		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2763					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCCCAGCTCCTCCAGTCGCT	0.632000														5			6		0	0	3.59834e-05	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43958650	43958651	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43958650_43958651CC>AA	uc010yny.2	+	18	2935_2936	c.2852_2853CC>AA	c.(2851-2853)ccc>cAA	p.P951Q	PLEKHH2_uc002rtf.3_Missense_Mutation_p.P950Q	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	951						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGAGACACCCCACTTTGTGTC	0.356000														391			12		0	0	6.4e-05	0	0
AGAP2	116986	broad.mit.edu	37	12	58121490	58121490	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:58121490G>A	uc001spq.3	-	15	2831	c.2831C>T	c.(2830-2832)tCa>tTa	p.S944L	AGAP2_uc001spp.3_Missense_Mutation_p.S943L|AGAP2_uc001spr.3_Missense_Mutation_p.S588L|LOC100130776_uc001sps.4_Missense_Mutation_p.E239K	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	944	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CACGCAGATTGAATTCCCCTT	0.657000														9			9		0	0	0.000673444	0	0
GUF1	60558	broad.mit.edu	37	4	44693752	44693752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:44693752C>T	uc003gww.4	+	12	1756	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	517					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATATCTCTTTCCTTTGAATGA	0.318000														68			61		0	0	0.000781405	0	0
INSIG1	3638	broad.mit.edu	37	7	155094485	155094485	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:155094485C>T	uc003wly.3	+	4	944	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	INSIG1_uc003wlz.3_Silent_p.F147F|INSIG1_uc011kvu.2_Missense_Mutation_p.R93C	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	245					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTATATTCGTTCTTGGCT	0.418000														101			74		0	0	0.000781405	0	0
MDN1	23195	broad.mit.edu	37	6	90422395	90422395	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:90422395G>A	uc003pnn.1	-	47	7445	c.7329C>T	c.(7327-7329)ctC>ctT	p.L2443L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2443					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAGCAAAGAGAGCTGAGG	0.468000														60			59		0	0	0.000781405	0	0
MOV10	4343	broad.mit.edu	37	1	113241402	113241403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:113241402_113241403GG>AA	uc001eck.3	+	16	2844_2845	c.2574_2575GG>AA	c.(2572-2577)aaggac>aaAAac	p.D859N	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.D859N|MOV10_uc001ecm.3_Missense_Mutation_p.D799N	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	859					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGACATCAAGGACTTGAAGGT	0.559000														6			98		0	0	6.4e-05	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														30			17		0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82763649	82763649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82763649G>A	uc003uhx.2	-	2	3506	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	PCLO_uc003uhv.2_Missense_Mutation_p.P1073S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1019					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						AAGTTAGGAGGATCCTTAGAA	0.408000														8			14		0	0	0.000151284	0	0
PROSER1	80209	broad.mit.edu	37	13	39587366	39587366	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:39587366G>A	uc001uwy.3	-	10	2896	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	PROSER1_uc001uwz.3_Missense_Mutation_p.P653S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	675	Ser-rich.																GAGGAAAGAGGATTTGAACCA	0.433000														54			47		0	0	0.000680045	0	0
FGD2	221472	broad.mit.edu	37	6	36990132	36990132	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:36990132C>T	uc010jwp.1	+	12	1615	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	FGD2_uc003ong.2_Missense_Mutation_p.R204W|FGD2_uc011dtv.1_Missense_Mutation_p.R110W|FGD2_uc003onj.1_Missense_Mutation_p.R59W	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	482					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCACCACTGCCGGGCCTGCGG	0.667000														15			10		0	0	0.000442599	0	0
TLN2	83660	broad.mit.edu	37	15	63131062	63131062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63131062G>A	uc002alb.4	+	54	7382	c.7382G>A	c.(7381-7383)gGa>gAa	p.G2461E	TLN2_uc002alc.4_Missense_Mutation_p.G854E|TLN2_uc010uic.2_Missense_Mutation_p.G77E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2461	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGCGGCAGGAAATGCTGTG	0.448000														47			40		0	0	0.000374591	0	0
GPR98	84059	broad.mit.edu	37	5	90074406	90074406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:90074406C>T	uc003kju.3	+	62	12925	c.12829C>T	c.(12829-12831)Cga>Tga	p.R4277*	GPR98_uc003kjt.3_Nonsense_Mutation_p.R1983*|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4277					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAGCAACTTCGAGTGTCAGA	0.413000														0			10		0	0	0.000978159	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677153	233677153	+	Missense_Mutation	SNP	G	A	A	rs12618284		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:233677153G>A	uc002vtj.4	+	19	2389	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	GIGYF2_uc010zmj.1_Missense_Mutation_p.D687N|GIGYF2_uc002vtg.2_Missense_Mutation_p.D681N|GIGYF2_uc002vti.4_Missense_Mutation_p.D687N|GIGYF2_uc002vtk.4_Missense_Mutation_p.D687N|GIGYF2_uc002vth.4_Missense_Mutation_p.D681N|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.D518N|GIGYF2_uc002vtq.4_Missense_Mutation_p.D20N	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	687	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTCCGTGCCAGATACTGGCTC	0.403000														27			26		0	0	0.000339439	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909234	29909234	+	Silent	SNP	G	A	A	rs144297281	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:29909234G>A	uc010vec.2	-	1	396	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.L51L|SEZ6L2_uc002dur.4_Silent_p.L51L|SEZ6L2_uc002duq.4_Silent_p.L51L|SEZ6L2_uc010ved.2_Intron|SEZ6L2_uc002dus.4_Silent_p.L51L|ASPHD1_uc002dut.3_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	51						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						AGTTCAGCCAGGGCCTCAGAG	0.632000														33			16		0	0	0.000308642	0	0
APLNR	187	broad.mit.edu	37	11	57003458	57003458	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:57003458C>T	uc001njo.3	-	0	1470	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	341						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTGACTTCTCCCCACTGCTG	0.637000														20			13		0	0	0.000151284	0	0
THADA	63892	broad.mit.edu	37	2	43819528	43819529	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43819528_43819529CC>AA	uc002rsw.4	-	1	355_356	c.3_4GG>TT	c.(1-6)atgggt>atTTgt	p.1_2MG>IC	THADA_uc002rsx.4_Missense_Mutation_p.1_2MG>IC|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.1_2MG>IC|THADA_uc002rtc.4_Missense_Mutation_p.1_2MG>IC|THADA_uc002rtd.3_Missense_Mutation_p.1_2MG>IC	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCTTTACACCCATTTTAAATA	0.371000														485			12		0	0	6.4e-05	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795709	68795709	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:68795709G>A	uc003hdr.1	-	4	500	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.P124S	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	127	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.F126L(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCAGTAGAGGGGAACTGGAAC	0.388000														41			45		0	0	0.000781405	0	0
KIF17	57576	broad.mit.edu	37	1	21009241	21009241	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:21009241C>T	uc001bdr.4	-	10	2486	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	KIF17_uc001bdp.4_Missense_Mutation_p.E68K|KIF17_uc009vpx.3_Missense_Mutation_p.E160K|KIF17_uc001bds.4_Missense_Mutation_p.E790K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	790					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCGCTGTCCTCATCCGAGTTC	0.607000														28			29		0	0	0.000184323	0	0
C17orf74	201243	broad.mit.edu	37	17	7329509	7329509	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7329509G>A	uc002ggw.3	+	2	272	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	67						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCCCAGATGAAATTCAGGC	0.562000														37			44		0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154182265	154182265	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:154182265C>T	uc004fmt.3	-	11	1976	c.1805G>A	c.(1804-1806)cGa>cAa	p.R602Q		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	602	F5/8 type A 2.|Plastocyanin-like 4.		R -> G (in HEMA; mild familial).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTACCAGCTTCGGTTCTCATC	0.423000														410			118		0	0	0.000781405	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000871	204000872	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:204000871_204000872CC>AA	uc002uzt.3	+	26	4531_4532	c.4198_4199CC>AA	c.(4198-4200)cca>AAa	p.P1400K	NBEAL1_uc021vvj.1_Missense_Mutation_p.P103K	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1400							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACACCATCCCCAGTAGAGTCT	0.426000														492			12		0	0	6.4e-05	0	0
STAT6	6778	broad.mit.edu	37	12	57493118	57493118	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:57493118G>A	uc009zpg.3	-	15	1999	c.1997C>T	c.(1996-1998)cCc>cTc	p.P666L	STAT6_uc009zpe.3_Missense_Mutation_p.P617L|STAT6_uc001sna.3_Missense_Mutation_p.P617L|STAT6_uc009zpf.3_Missense_Mutation_p.P617L|STAT6_uc010srb.2_Missense_Mutation_p.P507L|STAT6_uc010src.2_Missense_Mutation_p.P507L|STAT6_uc010srd.2_Missense_Mutation_p.P507L	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	617					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGGCTTCTTGGGATAGAGATT	0.552000														37			40		0	0	0.000509022	0	0
ARMC5	79798	broad.mit.edu	37	16	31473666	31473666	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:31473666C>T	uc010vfn.2	+	4	1207	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	ARMC5_uc010vfo.2_Silent_p.S298S|ARMC5_uc002ecc.3_Silent_p.S266S|ARMC5_uc002eca.4_Silent_p.S266S|ARMC5_uc002ecb.2_Silent_p.S266S|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	266							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAACTCAGCCGAGGCTGCT	0.682000														7			5		0	0	3.59834e-05	0	0
SYK	6850	broad.mit.edu	37	9	93636979	93636979	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:93636979G>A	uc004aqz.3	+	8	1234	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	SYK_uc004ara.3_Missense_Mutation_p.M320I|SYK_uc004arb.3_Missense_Mutation_p.M320I|SYK_uc004arc.3_Missense_Mutation_p.M343I|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	343	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCCTACCCATGGACACAGAGG	0.567000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									3			69		0	0	0.000781405	0	0
IL16	3603	broad.mit.edu	37	15	81572043	81572043	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:81572043G>A	uc021ssh.1	+	6	1110	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.E337K|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.E379K|IL16_uc021ssg.1_Missense_Mutation_p.E337K|IL16_uc002bgg.3_Missense_Mutation_p.E337K|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	337	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTTCGCCTTGGAAAGCCCCTC	0.607000														16			15		0	0	0.00074312	0	0
UTP14A	10813	broad.mit.edu	37	X	129045770	129045770	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:129045770C>T	uc004euz.3	+	5	500	c.410C>T	c.(409-411)aCc>aTc	p.T137I	UTP14A_uc011mup.2_Intron|UTP14A_uc011muq.2_Missense_Mutation_p.T83I	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	137					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCAATAAAACCGCACAAGTC	0.498000														116			116		0	0	0.000781405	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:156469690_156469691CC>AA	uc010jij.1	-	5	969_970	c.784_785GG>TT	c.(784-786)ggg>TTg	p.G262L	HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	257					interspecies interaction between organisms	integral to membrane	receptor activity	p.G262V(2)		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)			GGTGTCATTCCCATCTACTCAA	0.347000														263			8		0	0	6.4e-05	0	0
STAU1	6780	broad.mit.edu	37	20	47733717	47733717	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:47733717C>T	uc002xud.3	-	11	1989	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	STAU1_uc002xua.3_Silent_p.Q445Q|STAU1_uc002xub.3_Silent_p.Q451Q|STAU1_uc002xuc.3_Silent_p.Q445Q|STAU1_uc002xue.3_Silent_p.Q445Q|STAU1_uc002xuf.3_Silent_p.Q451Q|STAU1_uc002xug.3_Silent_p.Q526Q	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	526						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCAGAGGTGGCTGAGAGGAGC	0.468000														38			36		0	0	0.000814825	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658441	72658441	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:72658441G>A	uc003txs.1	-	12	1471	c.543C>T	c.(541-543)gtC>gtT	p.V181V	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		aattctcatcgacaccacgga	0.443000														35			34		0	0	0.00058488	0	0
USP26	83844	broad.mit.edu	37	X	132161000	132161000	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:132161000G>A	uc011mvf.2	-	0	1301	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	USP26_uc010nrm.1_Missense_Mutation_p.P417S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	417					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACCTGTTTAGGAAAATTATCT	0.368000														26			21		0	0	0.000229342	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815111	106815111	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:106815111C>T	uc003ymd.3	+	7	2824	c.2801C>T	c.(2800-2802)tCc>tTc	p.S934F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S665F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	934					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTATTTTCATCCCACCTAGCA	0.418000														8			10		0	0	0.000151284	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795732	133795732	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:133795732G>C	uc001qgx.4	-	13	2167	c.1936C>G	c.(1936-1938)Cgc>Ggc	p.R646G	IGSF9B_uc001qgy.1_Missense_Mutation_p.R488G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	646	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ATGATGTAGCGGTCGATGGGA	0.607000														17			9		0	0	0.000673444	0	0
TINAGL1	64129	broad.mit.edu	37	1	32043041	32043041	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32043041C>T	uc001bta.3	+	1	418	c.292C>T	c.(292-294)Cct>Tct	p.P98S	TINAGL1_uc010ogi.1_Missense_Mutation_p.P98S|TINAGL1_uc010ogj.2_Missense_Mutation_p.P98S|TINAGL1_uc010ogk.1_Missense_Mutation_p.P98S|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	98	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGTGCCACCCCCTTTTCCCCC	0.602000														48			43		0	0	0.000781405	0	0
CD33	945	broad.mit.edu	37	19	51729603	51729603	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:51729603G>A	uc002pwa.2	+	3	776	c.736G>A	c.(736-738)Gat>Aat	p.D246N	CD33_uc010eos.1_Missense_Mutation_p.D246N|CD33_uc010eot.1_Missense_Mutation_p.D119N|CD33_uc010eou.1_Intron	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	246					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTTCCAGGAGATGGCTCAGG	0.493000														51			49		0	0	0.000781405	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065900	247065900	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:247065900A>T	uc001ibv.2	-	7	1168	c.1071T>A	c.(1069-1071)aaT>aaA	p.N357K		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	348	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACAATTTGGTATTACTCGTCT	0.423000														93			75		0	0	0.000781405	0	0
GZMB	3002	broad.mit.edu	37	14	25100298	25100298	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:25100298C>T	uc001wps.2	-	4	789	c.723G>A	c.(721-723)aaG>aaA	p.K241K	GZMB_uc010ama.2_Silent_p.K229K|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	241	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATGGTTTTCTTTATCCAGT	0.488000														87			94		0	0	0.000781405	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	A	A	rs147603617		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:38858385G>A	uc002oih.4	+	24	2986	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_uc002oig.4_Missense_Mutation_p.E927K|CATSPERG_uc002oif.4_Missense_Mutation_p.E607K|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592000														124			134		0	0	0.000781405	0	0
PPP4C	5531	broad.mit.edu	37	16	30096328	30096328	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30096328C>T	uc002dwe.3	+	8	1004	c.869C>T	c.(868-870)cCc>cTc	p.P290L	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.P290L	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	290					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GAGGCTGCTCCCCAAGAGACA	0.637000														62			22		0	0	0.000720815	0	0
HAAO	23498	broad.mit.edu	37	2	43015740	43015740	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43015740C>T	uc002rst.4	-	1	163	c.88G>A	c.(88-90)Gag>Aag	p.E30K	HAAO_uc010ynw.1_Missense_Mutation_p.E30K	NM_012205	NP_036337	P46952	3HAO_HUMAN	Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.	30	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TTGAGCTGCTCCTGGTGCCTG	0.577000														51			42		0	0	0.000781405	0	0
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:118582670C>T	uc002tlh.1	+	8	1460	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	454	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388000														59			47		0	0	0.000781405	0	0
CCDC60	160777	broad.mit.edu	37	12	119943060	119943060	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:119943060G>A	uc001txe.3	+	6	1300	c.835G>A	c.(835-837)Gac>Aac	p.D279N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	279										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACATTGAGGACAATGAGTC	0.522000														75			57		0	0	0.000781405	0	0
DISP1	84976	broad.mit.edu	37	1	223116528	223116529	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:223116528_223116529CG>AT	uc001hnu.2	+	3	689_690	c.363_364CG>AT	c.(361-366)tccgag>tcATag	p.E122*		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	122					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCCACACTCCGAGTATTCTGC	0.545000														807			16		0	0	6.4e-05	0	0
NCL	4691	broad.mit.edu	37	2	232326634	232326634	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:232326634G>A	uc002vru.3	-	2	371	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512000														126			115		0	0	0.000781405	0	0
DRD5	1816	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:9783938G>A	uc003gmb.4	+	0	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	95					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)	TGCTGGTCATGCCCTGGAAGG	0.637000														66			6		0	0	0.000274275	0	0
POU6F1	5463	broad.mit.edu	37	12	51586157	51586157	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:51586157G>A	uc001rxy.3	-	2	539	c.347C>T	c.(346-348)cCa>cTa	p.P116L	POU6F1_uc001rxz.3_Missense_Mutation_p.P116L|POU6F1_uc001rya.3_Missense_Mutation_p.P116L	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	116	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCAGGTAATTGGGATAGGAGC	0.607000														67			64		0	0	0.000781405	0	0
KIF1A	547	broad.mit.edu	37	2	241658603	241658603	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241658603G>A	uc010fzk.3	-	46	5281	c.5034C>T	c.(5032-5034)tcC>tcT	p.S1678S	KIF1A_uc002vzy.3_Silent_p.S1577S|KIF1A_uc002vzw.3_Silent_p.S238S|KIF1A_uc002vzx.3_Silent_p.S304S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1577					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCCCTTCTTGGAAACGATCG	0.647000														51			58		0	0	0.000781405	0	0
LAMB4	22798	broad.mit.edu	37	7	107752391	107752391	+	Splice_Site	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:107752391C>A	uc010ljo.1	-	4	277	c.193_splice	c.e4-1	p.G65_splice	LAMB4_uc003vey.2_Splice_Site_p.G65_splice	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	65	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTTGTTCCCCCTGGAAAACA	0.343000														29			26		2.44723e-14	3.78429e-13	0.000720815	1	0
CCDC88B	283234	broad.mit.edu	37	11	64120877	64120877	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:64120877G>A	uc001nzy.3	+	21	3791	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	CCDC88B_uc009ypo.2_Missense_Mutation_p.E1245K|CCDC88B_uc001oaa.3_Missense_Mutation_p.E400K|CCDC88B_uc001oab.1_Missense_Mutation_p.E79K|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1248					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTGGCTGAAGTTCAGGC	0.657000														24			14		0	0	0.000308642	0	0
TAF7L	54457	broad.mit.edu	37	X	100547940	100547941	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:100547940_100547941GG>TT	uc004ehb.3	-	0	119_120	c.93_94CC>AA	c.(91-96)ccccaa>ccAAaa	p.Q32K	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	32					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.P31S(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACAAGAATTTGGGGTTCTTGTT	0.530000														815			17		0	0	6.4e-05	0	0
THADA	63892	broad.mit.edu	37	2	43797552	43797553	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43797552_43797553GG>TT	uc002rsw.4	-	13	2513_2514	c.2161_2162CC>AA	c.(2161-2163)cct>AAt	p.P721N	THADA_uc010far.3_5'UTR|THADA_uc002rsx.4_Missense_Mutation_p.P721N|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P431N|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Missense_Mutation_p.P431N|THADA_uc002rtb.1_Missense_Mutation_p.P721N|THADA_uc002rtc.4_Missense_Mutation_p.P721N|THADA_uc002rtd.3_Missense_Mutation_p.P721N	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	721							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAAACAGAAGGGTGCTGTTTG	0.312000														422			10		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					32			33		0	0	0.000814825	0	0
NLRP9	338321	broad.mit.edu	37	19	56228167	56228167	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56228167G>A	uc002qly.3	-	4	2285	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	753						cytoplasm	ATP binding	p.P753S(2)|p.P753P(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCCCTCAAGGGATTTTCTACC	0.527000														53			48		0	0	0.000781405	0	0
AP5M1	55745	broad.mit.edu	37	14	57741132	57741132	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:57741132C>T	uc001xcv.3	+	1	672	c.245C>T	c.(244-246)tCc>tTc	p.S82F	AP5M1_uc001xcu.4_Missense_Mutation_p.S82F|AP5M1_uc010tri.2_Intron|AP5M1_uc010trj.2_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	82					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											AATAAAACATCCATTTATGGA	0.393000														32			28		0	0	0.000878237	0	0
OR4A5	81318	broad.mit.edu	37	11	51412124	51412124	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:51412124G>A	uc001nhi.2	-	0	325	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTTGGAAGGAAATAGTCTT	0.438000														10			8		0	0	0.000157383	0	0
ITGA8	8516	broad.mit.edu	37	10	15639265	15639265	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:15639265C>T	uc001ioc.1	-	20	2152	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	ITGA8_uc010qcb.1_Missense_Mutation_p.E703K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	718					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E718Q(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTACATTTTCCATCTTGTAC	0.448000														47			61		0	0	0.000781405	0	0
PHF8	23133	broad.mit.edu	37	X	54048724	54048724	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54048724G>A	uc004dsu.3	-	3	615	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PHF8_uc004dst.3_Silent_p.F87F|PHF8_uc004dsw.3_Silent_p.F87F|PHF8_uc004dsy.3_Silent_p.F87F	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	123					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTCTCTGACGAACGTAGGGC	0.537000														262			73		0	0	0.000781405	0	0
MGAT3	4248	broad.mit.edu	37	22	39883656	39883656	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:39883656G>A	uc003axv.4	+	1	543	c.304G>A	c.(304-306)Gag>Aag	p.E102K	MGAT3_uc010gxy.3_Missense_Mutation_p.E102K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	102					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGTGCTGCCCGAGGACACCAC	0.701000														19			21		0	0	0.000295444	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299827	125299827	+	Silent	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:125299827A>G	uc004euk.2	-	0	254	c.81T>C	c.(79-81)ggT>ggC	p.G27G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	27										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGCCGCTAAACCCTGCGACG	0.692000														17			18		0	0	0.000132079	0	0
PSG5	5673	broad.mit.edu	37	19	43689023	43689024	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:43689023_43689024CG>AT	uc002ovu.3	-	1	471_472	c.340_341CG>AT	c.(340-342)cgg>ATg	p.R114M	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R114M	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	114	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGCGTCTTCCCGGGTGACATTC	0.431000														439			11		0	0	6.4e-05	0	0
FAM104B	90736	broad.mit.edu	37	X	55185590	55185590	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:55185590G>C	uc004dug.2	-	1	131	c.92C>G	c.(91-93)cCt>cGt	p.P31R	FAM104B_uc004duh.2_Missense_Mutation_p.P31R|FAM104B_uc022bxl.1_Non-coding_Transcript|FAM104B_uc022bxm.1_Missense_Mutation_p.P30R|FAM104B_uc022bxn.1_Missense_Mutation_p.P28R|FAM104B_uc022bxo.1_Missense_Mutation_p.P31R|FAM104B_uc022bxp.1_Missense_Mutation_p.P31R|FAM104B_uc004dui.4_Missense_Mutation_p.P31R	NM_001166699	NP_001160171	Q5XKR9	F104B_HUMAN	Homo sapiens family with sequence similarity 104, member B (FAM104B), transcript variant 2, mRNA.	31										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTGAAAGATAGGGTTTCTCTT	0.378000														121			42		0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117724040	117724040	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:117724040C>T	uc001twn.2	-	5	1870	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	NOS1_uc021ren.1_Missense_Mutation_p.E51K|NOS1_uc021reo.1_Missense_Mutation_p.E51K|NOS1_uc001twm.2_Missense_Mutation_p.E387K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	387					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCACCTCTTCCAGCCTTTCC	0.532000														23			21		0	0	0.000175454	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547555	44547555	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:44547555C>T	uc002ruc.4	+	9	1913	c.1835C>T	c.(1834-1836)tCg>tTg	p.S612L	PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Missense_Mutation_p.S334L|SLC3A1_uc002rue.4_Missense_Mutation_p.S232L	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	612					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AATATGATTTCGGGCCTTCCC	0.403000														24			22		0	0	0.000295444	0	0
POTEA	340441	broad.mit.edu	37	8	43147644	43147644	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:43147644C>T	uc003xpz.1	+	0	60	c.17C>T	c.(16-18)tCt>tTt	p.S6F	POTEA_uc003xqa.1_Missense_Mutation_p.S6F	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	6										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTGAGGTTTCTCCAAAGCTG	0.547000														17			18		0	0	0.000958276	0	0
GNG8	94235	broad.mit.edu	37	19	47137438	47137438	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:47137438G>A	uc010xyd.2	-	1	108	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_033258	NP_150283	Q9UK08	GBG8_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 8 (GNG8), mRNA.	36					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		AGAAAGCCAGGAGTTCCGCTG	0.667000														16			6		0	0	3.59834e-05	0	0
ODAM	54959	broad.mit.edu	37	4	71068629	71068629	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:71068629G>A	uc003hfc.3	+	8	822	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	269			E -> D (in a colorectal cancer sample; somatic mutation).		biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.E269D(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GCTCCCAGAAGAGAAGGTAGA	0.373000														6			3		0	0	6.4e-05	0	0
CDSN	1041	broad.mit.edu	37	6	31083966	31083967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31083966_31083967GG>AA	uc003nsm.2	-	1	1481_1482	c.1425_1426CC>TT	c.(1423-1428)ccccat>ccTTat	p.H476Y	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	476					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGATCAGGATGGGGAGAGCCAT	0.594000														24			20		0	0	6.4e-05	0	0
ANO8	57719	broad.mit.edu	37	19	17442127	17442127	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:17442127G>A	uc002ngf.2	-	5	839	c.680C>T	c.(679-681)gCc>gTc	p.A227V	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	227						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TTCACACACGGCCTGCACCCA	0.632000														31			36		0	0	0.000319135	0	0
CTAG2	30848	broad.mit.edu	37	X	153880762	153880762	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:153880762C>A	uc004fmi.2	-	1	477	c.413G>T	c.(412-414)cGg>cTg	p.R138L	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	138				R -> W (in Ref. 1; CAA11117).		centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					GTCCTGGTCCCGAACTGACAT	0.647000														172			37		1.52319e-26	2.3821e-25	0.000374591	1	0
FAM120C	54954	broad.mit.edu	37	X	54209119	54209119	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54209119G>A	uc004dsz.4	-	0	596	c.513C>T	c.(511-513)ttC>ttT	p.F171F	FAM120C_uc011moh.2_Silent_p.F171F|FAM120C_uc004dta.2_Silent_p.F171F	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	171										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCCCCCCGGGAACATGACCA	0.682000														44			12		0	0	0.000308642	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046823	42046823	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:42046823G>A	uc001cgz.4	-	3	4859	c.3646C>T	c.(3646-3648)Ccc>Tcc	p.P1216S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1216S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1216					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCCTGAAGGGGATGTTGGCT	0.582000														25			27		0	0	0.00106085	0	0
LRCH4	4034	broad.mit.edu	37	7	100176342	100176342	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:100176342G>A	uc003uvj.3	-	4	719	c.666C>T	c.(664-666)tcC>tcT	p.S222S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	222					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCGGCAGAAGGAGACTGGGA	0.637000														20			20		0	0	0.000229342	0	0
NLRP1	22861	broad.mit.edu	37	17	5486158	5486158	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:5486158G>A	uc002gci.3	-	1	835	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	NLRP1_uc002gcg.1_Missense_Mutation_p.P94S|NLRP1_uc002gch.4_Missense_Mutation_p.P94S|NLRP1_uc002gck.3_Missense_Mutation_p.P94S|NLRP1_uc002gcj.3_Missense_Mutation_p.P94S|NLRP1_uc002gcl.3_Missense_Mutation_p.P94S|NLRP1_uc010clh.3_Missense_Mutation_p.P94S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	94					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGAATGAGGGAGAGTGGCCT	0.597000														12			5		0	0	3.59834e-05	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392257	1392257	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:1392257C>T	uc002clk.2	+	10	1193	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	BAIAP3_uc010uuz.2_Silent_p.F310F|BAIAP3_uc010uva.2_Silent_p.F282F|BAIAP3_uc021tag.1_Silent_p.F287F|BAIAP3_uc002clj.3_Silent_p.F327F|BAIAP3_uc010uvb.2_Silent_p.F362F|BAIAP3_uc010uvc.1_Silent_p.F310F	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	345					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCGATGACTTCCTGGGGTGCC	0.617000														9			16		0	0	0.00074312	0	0
ZNF578	147660	broad.mit.edu	37	19	53014718	53014718	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:53014718C>T	uc002pzp.4	+	5	1328	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	137					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)		TAGATGCCATCGTAGACTTCA	0.393000														76			67		0	0	0.000781405	0	0
NPC2	10577	broad.mit.edu	37	14	74947415	74947416	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:74947415_74947416GG>TT	uc001xpy.3	-	3	537_538	c.430_431CC>AA	c.(430-432)cca>AAa	p.P144K	NPC2_uc010tus.2_Intron|NPC2_uc021rwm.1_5'Flank	NM_006432	NP_006423	P61916	NPC2_HUMAN	Homo sapiens Niemann-Pick disease, type C2 (NPC2), mRNA.	144					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	p.P144Q(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GATCTGTACTGGGATTTCCCAG	0.421000														529			11		0	0	6.4e-05	0	0
RELA	5970	broad.mit.edu	37	11	65427250	65427250	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:65427250C>T	uc010ron.2	-	5	619	c.479G>A	c.(478-480)cGt>cAt	p.R160H	RELA_uc001off.3_Missense_Mutation_p.R149H|RELA_uc001ofh.3_Missense_Mutation_p.R146H|RELA_uc001ofg.3_Missense_Mutation_p.R149H|RELA_uc021qlq.1_Missense_Mutation_p.R149H|RELA_uc009yqr.3_Missense_Mutation_p.R96H|RELA_uc001ofe.2_Missense_Mutation_p.R149H|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	149	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTAGTCCCCACGCTGCTCTTC	0.612000														25			22		0	0	0.000375601	0	0
TREML1	340205	broad.mit.edu	37	6	41119031	41119031	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:41119031C>T	uc011duc.2	-	2	512	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TREML1_uc003opx.3_Silent_p.Q156Q|TREML1_uc011dud.2_Silent_p.Q45Q	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	156					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTCTCATCCTGGCTGGGTT	0.522000														58			44		0	0	0.000781405	0	0
C3AR1	719	broad.mit.edu	37	12	8211871	8211871	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:8211871G>A	uc001qtv.1	-	1	1003	c.911C>T	c.(910-912)tCc>tTc	p.S304F	C3AR1_uc021quj.1_Missense_Mutation_p.S304F	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	304					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CTCGTAGAAGGAATTGCTAGA	0.448000														70			81		0	0	0.000781405	0	0
XIST	7503	broad.mit.edu	37	X	73053079	73053079	+	RNA	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:73053079C>T	uc004ebm.1	-	2		c.11567G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTACCTTTTTCTCCAGATAGC	0.428000														94			36		0	0	0.000437636	0	0
TRIM60	166655	broad.mit.edu	37	4	165961274	165961274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:165961274C>T	uc003iqy.1	+	2	220	c.50C>T	c.(49-51)cCc>cTc	p.P17L	TRIM60_uc010iqx.1_Missense_Mutation_p.P17L|TRIM60_uc021xty.1_Missense_Mutation_p.P17L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	17						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGCTGTCCCATCTGTCTG	0.502000														33			35		0	0	0.000953801	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														73			8		0	0	0.000274275	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919413	56919413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:56919413G>T	uc003pdj.3	+	3	2286	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	KIAA1586_uc011dxm.2_Nonsense_Mutation_p.E679*	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	706							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAATAGTGCTGAAGCTGAAAG	0.269000														14			14		1.05317e-09	1.62554e-08	0.000219431	1	0
PBX1	5087	broad.mit.edu	37	1	164769004	164769004	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:164769004C>T	uc001gct.3	+	3	1042	c.579C>T	c.(577-579)tcC>tcT	p.S193S	PBX1_uc010pku.2_Silent_p.S193S|PBX1_uc001gcs.3_Silent_p.S193S|PBX1_uc010pkv.2_Silent_p.S110S|PBX1_uc010pkw.1_Silent_p.S83S	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	193					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCCCATCTCCCCAAAGGAGA	0.572000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									42			32		0	0	0.000409698	0	0
OR4C16	219428	broad.mit.edu	37	11	55339945	55339945	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55339945C>T	uc010rih.2	+	0	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I114N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCCTCATCCTCACGGCTG	0.507000														64			61		0	0	0.000781405	0	0
SULF1	23213	broad.mit.edu	37	8	70541837	70541837	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:70541837G>A	uc003xyg.2	+	17	2768	c.2207G>A	c.(2206-2208)gGg>gAg	p.G736E	SULF1_uc010lza.1_Missense_Mutation_p.G736E|SULF1_uc003xyd.2_Missense_Mutation_p.G736E|SULF1_uc003xye.2_Missense_Mutation_p.G736E|SULF1_uc003xyf.2_Missense_Mutation_p.G736E|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	736					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.G736E(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGAGGAAGGGGGAAGAGTGC	0.537000														53			56		0	0	0.000781405	0	0
ALG5	29880	broad.mit.edu	37	13	37559848	37559848	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:37559848G>A	uc001uvy.3	-	5	544	c.477C>T	c.(475-477)atC>atT	p.I159I	ALG5_uc010teq.2_Silent_p.I129I|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	159					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CTGCCATAAGGATCTTTTCTC	0.368000														42			49		0	0	0.000781405	0	0
CRTC3	64784	broad.mit.edu	37	15	91169053	91169054	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:91169053_91169054GG>TT	uc002bpp.3	+	9	901_902	c.795_796GG>TT	c.(793-798)ttgggg>ttTTgg	p.265_266LG>FW	CRTC3_uc002bpo.3_Missense_Mutation_p.265_266LG>FW	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	265					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.G266E(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CACCCTTCTTGGGGACCTTGAA	0.485000			T	MAML2	salivary gland mucoepidermoid									335			10		0	0	6.4e-05	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864356	102864356	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:102864356C>T	uc022cbu.1	+	0	364	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	TCEAL3_uc004ekq.3_Missense_Mutation_p.P122S|TCEAL3_uc004ekr.3_Missense_Mutation_p.P122S	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGACGATTCCCCCAAGGACTC	0.552000														275			89		0	0	0.000781405	0	0
CCL18	6362	broad.mit.edu	37	17	34397893	34397893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:34397893C>T	uc002hku.3	+	1	214	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_002988	NP_002979	P55774	CCL18_HUMAN	Homo sapiens chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) (CCL18), mRNA.	52					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity	p.P52H(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGAAACCAGCCCCCAGTGCCC	0.557000														18			23		0	0	0.000878237	0	0
ZNF768	79724	broad.mit.edu	37	16	30536914	30536914	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30536914T>A	uc002dyk.4	-	1	723	c.547A>T	c.(547-549)Aag>Tag	p.K183*	ZNF768_uc010vex.2_Nonsense_Mutation_p.K152*|ZNF768_uc010vew.2_Nonsense_Mutation_p.K152*	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	183					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						AAAGGACTCTTTTCCTCGGGG	0.527000														38			84		0	0	0.000781405	0	0
ZNF835	90485	broad.mit.edu	37	19	57175863	57175863	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:57175863G>A	uc010ygn.2	-	1	931	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TATCAGGGACGAGCGGTTGCG	0.697000														10			11		0	0	0.000978159	0	0
PRRG2	5639	broad.mit.edu	37	19	50086975	50086975	+	Splice_Site	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:50086975G>A	uc002pon.3	+	3	426	c.261_splice	c.e3+1	p.T87_splice	PRRG2_uc010yaz.1_Splice_Site_p.T64_splice	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	87	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CACTCTCACGGTGAGGGCCTC	0.592000														31			33		0	0	0.000491102	0	0
PXDNL	137902	broad.mit.edu	37	8	52370110	52370110	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:52370110G>A	uc003xqu.4	-	8	1031	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	310	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTCCCCAGCGGAATTTCTGG	0.433000														58			35		0	0	0.00058488	0	0
B4GALT1	2683	broad.mit.edu	37	9	33166892	33166892	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:33166892G>A	uc003zsg.2	-	0	465	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	92				SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGCGCGGCTGGGAGGAGGCGC	0.741000														20			7		0	0	0.000157383	0	0
PHF2	5253	broad.mit.edu	37	9	96429453	96429453	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:96429453C>T	uc004aub.3	+	16	2426	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L	PHF2_uc011lug.1_Missense_Mutation_p.S643L|PHF2_uc004auc.3_Missense_Mutation_p.S180L	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	760					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTGGGAGCTCGGCAGCTGGC	0.647000														1			24		0	0	0.00047179	0	0
SYNE1	23345	broad.mit.edu	37	6	152841609	152841609	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:152841609G>A	uc021zhb.1	-	3	517	c.294C>T	c.(292-294)ttC>ttT	p.F98F	SYNE1_uc003qot.4_Silent_p.F98F|SYNE1_uc003qou.4_Silent_p.F98F|SYNE1_uc010kjb.1_Silent_p.F98F|SYNE1_uc003qpa.1_Silent_p.F98F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	98	Actin-binding.|CH 1.			F -> L (in Ref. 2; AAN60442).	Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTTCGAGGAACTTGAGTG	0.448000										HNSCC(10;0.0054)				37			46		0	0	0.000781405	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657236	50657236	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:50657236C>T	uc003bkb.1	-	20	5229	c.4717G>A	c.(4717-4719)Gac>Aac	p.D1573N	TUBGCP6_uc003bka.1_Missense_Mutation_p.D660N|TUBGCP6_uc010har.1_Missense_Mutation_p.D1565N|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1573					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCGGGGTGTCCCCATGCAGG	0.642000														28			19		0	0	0.00047179	0	0
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:195505842T>G	uc021xjp.1	-	1	12765	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597000														0			2		0	0	6.4e-05	0	0
UMODL1	89766	broad.mit.edu	37	21	43539232	43539232	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:43539232C>T	uc002zag.1	+	13	2871	c.2871C>T	c.(2869-2871)tcC>tcT	p.S957S	UMODL1_uc002zad.1_Silent_p.S757S|UMODL1_uc002zae.1_Silent_p.S885S|UMODL1_uc002zaf.1_Silent_p.S829S|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	829						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCGGGGCTCCCTGCCAGCCA	0.622000														54			35		0	0	0.00058488	0	0
CRTC1	23373	broad.mit.edu	37	19	18886507	18886507	+	Silent	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:18886507G>T	uc010ebv.3	+	13	1705	c.1617G>T	c.(1615-1617)ccG>ccT	p.P539P	CRTC1_uc002nkb.4_Silent_p.P523P|CRTC1_uc010ebw.3_Silent_p.P359P	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	523					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGTACAGCCCGGGCTCCACAC	0.657000														23			23		4.7796e-09	7.34975e-08	0.000720815	1	0
ZMYM3	9203	broad.mit.edu	37	X	70472589	70472590	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70472589_70472590GG>AA	uc004dzh.2	-	1	695_696	c.516_517CC>TT	c.(514-519)tcccct>tcTTct	p.P173S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.P173S|ZMYM3_uc004dzj.2_Missense_Mutation_p.P173S|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Missense_Mutation_p.P173S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	173					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCCTGCCCAGGGGAGCCCCTTC	0.574000														70			11		0	0	6.4e-05	0	0
ATG4A	115201	broad.mit.edu	37	X	107393483	107393484	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107393483_107393484CC>AA	uc004enr.3	+	9	1074_1075	c.916_917CC>AA	c.(916-918)cca>AAa	p.P306K	ATG4A_uc004ens.3_Missense_Mutation_p.P222K|ATG4A_uc011msl.2_Missense_Mutation_p.P160K|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P244K|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	306					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CCTGCAGTCCCCACAGCGAATG	0.490000														392			14		0	0	6.4e-05	0	0
C3	718	broad.mit.edu	37	19	6712354	6712354	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:6712354C>T	uc002mfm.3	-	10	1245	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	395					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCACAGTGTCCTCGCCCTGG	0.622000														20			17		0	0	0.000566183	0	0
WSB1	26118	broad.mit.edu	37	17	25628924	25628924	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:25628924T>G	uc002gzd.1	+	1	467	c.151T>G	c.(151-153)Tgg>Ggg	p.W51G	WSB1_uc010vzy.1_Missense_Mutation_p.W51G|WSB1_uc010vzz.1_Missense_Mutation_p.W20G|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	51					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ATACTTTGCTTGGTCACAAGG	0.418000														106			102		0	0	0.000781405	0	0
KDR	3791	broad.mit.edu	37	4	55972009	55972009	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:55972009G>A	uc003has.3	-	11	1937	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	KDR_uc003hat.1_Silent_p.F545F|KDR_uc011bzx.2_Silent_p.F545F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	545	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTCACGTGGAAGGAGATCA	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				68			65		0	0	0.000781405	0	0
TMEM19	55266	broad.mit.edu	37	12	72090353	72090354	+	Splice_Site	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:72090353_72090354GG>AA	uc001sws.3	+	3	965	c.382_splice	c.e3+1	p.G128_splice	TMEM19_uc001swr.1_Splice_Site_p.G114_splice	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	128						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATATAAGGAAGGTAAAATTATG	0.297000														17			11		0	0	6.4e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12356313	12356314	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:12356313_12356314CC>AA	uc001rah.4	-	2	612_613	c.470_471GG>TT	c.(469-471)tgg>tTT	p.W157F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.W157F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	157	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.W157L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCACTTCTCCCCAGTCTGTCCA	0.347000														685			20		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141660609	141660609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:141660609C>T	uc002tvj.1	-	22	4618	c.3646G>A	c.(3646-3648)Gat>Aat	p.D1216N	LRP1B_uc010fnl.1_Missense_Mutation_p.D398N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1216					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)		CTACAATAATCCACAATTTCA	0.433000										TSP Lung(27;0.18)				11			6		0	0	3.59834e-05	0	0
COL9A1	1297	broad.mit.edu	37	6	70942291	70942291	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:70942291G>A	uc003pfg.4	-	35	2657	c.2498C>T	c.(2497-2499)cCt>cTt	p.P833L	COL9A1_uc003pfe.4_Missense_Mutation_p.P382L|COL9A1_uc003pff.4_Missense_Mutation_p.P590L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	833	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTACCTTTAGGTCCCCTCAA	0.498000														101			77		0	0	0.000781405	0	0
TMCO4	255104	broad.mit.edu	37	1	20097818	20097818	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:20097818G>A	uc001bcn.3	-	4	579	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	TMCO4_uc001bco.1_Missense_Mutation_p.P113S|TMCO4_uc001bcp.1_Missense_Mutation_p.P113S|TMCO4_uc009vpn.1_Missense_Mutation_p.P113S|TMCO4_uc001bcq.1_Missense_Mutation_p.P113S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	113						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ATCACCGTCGGGTCGTCCTTC	0.478000														71			73		0	0	0.000781405	0	0
MAPK4	5596	broad.mit.edu	37	18	48255650	48255650	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:48255650C>G	uc002lev.3	+	5	2190	c.1190C>G	c.(1189-1191)cCg>cGg	p.P397R	MAPK4_uc010xdm.2_Missense_Mutation_p.P186R|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	397					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAGGTGGACCCGCGCAAGGAC	0.706000														9			7		0	0	0.000157383	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332555	130332555	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:130332555C>T	uc010scd.2	+	3	1422	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	474	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGGGAAGGCCAAGGGACAGA	0.642000														49			37		0	0	0.00058488	0	0
ALK	238	broad.mit.edu	37	2	29451808	29451808	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:29451808C>T	uc002rmy.3	-	15	3709	c.2757G>A	c.(2755-2757)ggG>ggA	p.G919G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	919	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)	CTCCGAAACCCCCTCTTGTCT	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					17			38		0	0	0.00111076	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	T	T	rs151083424		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:40136898C>T	uc021qgf.1	-	0	945	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.W315*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.W311*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCTTTTATCCACCAGCTGA	0.493000														1			15		0	0	0.000219431	0	0
MYH13	8735	broad.mit.edu	37	17	10204920	10204920	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:10204920T>C	uc002gmk.1	-	39	5858	c.5768A>G	c.(5767-5769)aAg>aGg	p.K1923R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1923					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GGCCCTCAGCTTGTTGACCTG	0.592000														74			56		0	0	0.000781405	0	0
TOP1	7150	broad.mit.edu	37	20	39750723	39750723	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:39750723G>T	uc002xjl.3	+	19	2369	c.2123G>T	c.(2122-2124)cGa>cTa	p.R708L	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	708					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding	p.R708*(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCCACAGACCGAGAGGAAAAT	0.473000			T	NUP98	AML*									53			43		1.8453e-21	2.87498e-20	0.000509022	1	0
PLCB4	5332	broad.mit.edu	37	20	9353698	9353698	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:9353698G>A	uc021wam.1	+	8	706	c.691G>A	c.(691-693)Gga>Aga	p.G231R	PLCB4_uc010gbw.1_Missense_Mutation_p.G231R|PLCB4_uc010gbx.3_Missense_Mutation_p.G231R|PLCB4_uc021wal.1_Missense_Mutation_p.G231R|PLCB4_uc002wnh.3_Missense_Mutation_p.G78R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	231					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCAGCAATGGAGACAAAAC	0.303000														17			12		0	0	0.000219431	0	0
DNAH2	146754	broad.mit.edu	37	17	7671298	7671298	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7671298C>T	uc002giu.1	+	21	3770	c.3756C>T	c.(3754-3756)ttC>ttT	p.F1252F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1252	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)				CTGGCCGGTTCCTGATCCTGC	0.582000														35			26		0	0	0.000878237	0	0
ANK3	288	broad.mit.edu	37	10	62039364	62039364	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:62039364G>A	uc001jky.3	-	1	486	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ANK3_uc010qih.2_Nonsense_Mutation_p.R33*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R44*|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	50					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						TGTCCAGCTCGAGCTGCTCTT	0.338000														0			40		0	0	0.000319135	0	0
AAK1	22848	broad.mit.edu	37	2	69704072	69704072	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:69704072C>A	uc002sfp.2	-	20	3236	c.2731G>T	c.(2731-2733)Gac>Tac	p.D911Y		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	911						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCACCTTGTCCGAGCCCTCA	0.433000														20			17		8.10497e-08	1.24171e-06	0.000175454	1	0
NLRP11	204801	broad.mit.edu	37	19	56321130	56321130	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56321130C>T	uc010ygf.2	-	4	1557	c.846G>A	c.(844-846)ggG>ggA	p.G282G	NLRP11_uc002qlz.3_Silent_p.G183G|NLRP11_uc002qmb.3_Silent_p.G183G|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	282	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTACATTATTCCCACGTGTGG	0.463000														40			28		0	0	0.00106085	0	0
CBLB	868	broad.mit.edu	37	3	105404212	105404212	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:105404212G>A	uc003dwc.3	-	13	2475	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	CBLB_uc011bhi.2_Missense_Mutation_p.S740F|CBLB_uc003dwd.2_Missense_Mutation_p.S718F|CBLB_uc003dwe.2_Missense_Mutation_p.S718F	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	718	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGAATTCAGGGAAACAGGGTG	0.403000			Mis S		AML									0			31		0	0	0.000339439	0	0
DCT	1638	broad.mit.edu	37	13	95095723	95095723	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:95095723G>T	uc010afh.3	-	8	1874	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	DCT_uc001vlv.4_Missense_Mutation_p.Q450K	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	450					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGCCAAGTTGGTCTGAGGTT	0.448000														53			15		6.31663e-08	9.69526e-07	0.000308642	1	0
OR4N5	390437	broad.mit.edu	37	14	20612573	20612573	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20612573G>A	uc010tla.2	+	0	679	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCGTATAAGGGAGCACTCCTC	0.488000														14			17		0	0	0.000566183	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684650	108684651	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:108684650_108684651GG>TT	uc022cch.1	-	5	1715_1716	c.1630_1631CC>AA	c.(1630-1632)cca>AAa	p.P544K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P544K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	544	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGAGAGTCTTGGGGACCTCCCA	0.426000														412			11		0	0	6.4e-05	0	0
F13B	2165	broad.mit.edu	37	1	197030188	197030188	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:197030188C>T	uc001gtt.1	-	3	513	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	157	Sushi 3.				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						TTATATAATTCAGGAGCCAAA	0.269000														14			9		0	0	0.000274275	0	0
SALL3	27164	broad.mit.edu	37	18	76753670	76753670	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:76753670C>T	uc002lmt.3	+	1	1679	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	SALL3_uc010dra.3_Missense_Mutation_p.S167F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	560					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)		TCGCCCGCCTCCAGCGAGTGC	0.756000														6			6		0	0	8.12818e-05	0	0
EXOC7	23265	broad.mit.edu	37	17	74097430	74097430	+	Silent	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:74097430C>A	uc002jqs.3	-	3	434	c.339G>T	c.(337-339)ctG>ctT	p.L113L	EXOC7_uc010dgv.2_Silent_p.L60L|EXOC7_uc010wsv.2_Silent_p.L72L|EXOC7_uc010wsw.2_Silent_p.L113L|EXOC7_uc002jqq.3_Silent_p.L113L|EXOC7_uc010wsx.2_Silent_p.L113L|EXOC7_uc002jqr.3_Silent_p.L113L|EXOC7_uc002jqu.2_Silent_p.L113L|EXOC7_uc002jqv.2_Silent_p.L113L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	113					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCATGCTTCCCAGGTACTCTT	0.537000														126			8		0.000157383	0.00238905	0.000157383	1	0
PTPN5	84867	broad.mit.edu	37	11	18765556	18765556	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:18765556G>A	uc001mpd.3	-	3	719	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PTPN5_uc001mpb.3_Silent_p.F96F|PTPN5_uc001mpc.3_Silent_p.F96F|PTPN5_uc010rdj.2_Silent_p.F72F|PTPN5_uc001mpf.3_Silent_p.F72F|PTPN5_uc001mpe.3_Silent_p.F96F|PTPN5_uc010rdk.2_Silent_p.F41F	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	96						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTTACCAGGAACTGTGAGG	0.652000														1			32		0	0	0.000953801	0	0
FIG4	9896	broad.mit.edu	37	6	110107591	110107591	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:110107591C>T	uc003ptt.2	+	17	2250	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	FIG4_uc011eau.1_Missense_Mutation_p.R402W	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	679					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGAGTTCTTTCGGCCATATGA	0.368000														57			44		0	0	0.000781405	0	0
CFHR5	81494	broad.mit.edu	37	1	196953220	196953220	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:196953220C>T	uc001gts.4	+	2	511	c.383C>T	c.(382-384)tCg>tTg	p.S128L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	128	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAAACATTTCGTGTGTAGAA	0.378000														29			17		0	0	0.000132079	0	0
CYP2S1	29785	broad.mit.edu	37	19	41711993	41711993	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:41711993C>T	uc002opw.3	+	7	1350	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	CYP2S1_uc010xvx.2_Missense_Mutation_p.P157L	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	432					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCGTTCCTGCCCTTCTCCTTA	0.582000														25			21		0	0	0.000229342	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319870	21319870	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:21319870C>T	uc021tss.1	+	2	1586	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	KCNJ18_uc002gyv.1_Missense_Mutation_p.P406S|KCNJ18_uc021tst.1_Missense_Mutation_p.P406S	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	406						integral to membrane	inward rectifier potassium channel activity	p.P406S(1)									CGGCCTCAGCCCCCAGGCCAG	0.662000														38			8		0	0	0.000157383	0	0
FZR1	51343	broad.mit.edu	37	19	3527806	3527806	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:3527806C>T	uc010dtk.2	+	5	682	c.648C>T	c.(646-648)acC>acT	p.T216T	FZR1_uc002lxt.2_Silent_p.T216T|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	216					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCTGTACCAGCCAGGTGG	0.622000														17			16		0	0	0.000958276	0	0
SRC	6714	broad.mit.edu	37	20	36031704	36031704	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:36031704C>T	uc002xgx.3	+	13	1982	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	SRC_uc002xgy.3_Silent_p.T511T|SRC_uc021wdd.1_Non-coding_Transcript	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	511	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGCGGCCCACCTTCGAGTACC	0.687000														10			6		0	0	8.12818e-05	0	0
COG3	83548	broad.mit.edu	37	13	46067544	46067545	+	Missense_Mutation	DNP	TT	GG	GG			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:46067544_46067545TT>GG	uc001vak.3	+	11	1392_1393	c.1250_1251TT>GG	c.(1249-1251)gtt>gGG	p.V417G	COG3_uc001vai.3_Missense_Mutation_p.V417G|COG3_uc010tfv.2_Missense_Mutation_p.V254G|COG3_uc010aci.3_Missense_Mutation_p.V193G	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	417					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATCATTCATGTTATTCACTTAG	0.342000														92			71		0	0	6.4e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41427756	41427756	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41427756C>T	uc002yyq.1	-	28	5383	c.4931G>A	c.(4930-4932)cGg>cAg	p.R1644Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1644					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)				ATCTGAAGTCCGGGTATTCTT	0.433000														85			49		0	0	0.000781405	0	0
FUT2	2524	broad.mit.edu	37	19	49207161	49207161	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:49207161C>T	uc002pke.4	+	1	1059	c.948C>T	c.(946-948)ttC>ttT	p.F316F	FUT2_uc010emc.3_Silent_p.F316F|FUT2_uc021uwx.1_Silent_p.F316F	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	316					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACTCCCCTTTCCTCAAAATCT	0.567000														48			43		0	0	0.000509022	0	0
OR4N2	390429	broad.mit.edu	37	14	20295862	20295862	+	Silent	SNP	C	T	T	rs139052676	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20295862C>T	uc010tkv.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	85					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)		TGGTGGACTTCCTCTCTGCGA	0.527000														168			82		0	0	0.000781405	0	0
SORCS3	22986	broad.mit.edu	37	10	107006990	107006990	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:107006990C>T	uc001kyi.1	+	21	3233	c.3006C>T	c.(3004-3006)tcC>tcT	p.S1002S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTTCCAGTCCCAGCTTTTAT	0.463000														2			16		0	0	0.00074312	0	0
ZNF99	7652	broad.mit.edu	37	19	22942286	22942286	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:22942286C>T	uc021urt.1	-	3	580	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATATTTTTCCCTGGGTAGT	0.284000														37			25		0	0	0.000586117	0	0
SLC24A6	80024	broad.mit.edu	37	12	113745603	113745603	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:113745603G>A	uc001tvc.3	-	12	1514	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	SLC24A6_uc001tuz.3_Missense_Mutation_p.A140V|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.A173V	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	435					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTGGCGGCCGCGTTGATCCA	0.627000														26			19		0	0	0.000132079	0	0
OR14J1	442191	broad.mit.edu	37	6	29274667	29274667	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:29274667G>A	uc011dln.2	+	0	201	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTCTTCTGGACCTCTGCT	0.468000														87			100		0	0	0.000781405	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50415234	50415234	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:50415234C>T	uc003daq.3	-	16	1518	c.1480_splice	c.e16-1	p.G494_splice	CACNA2D2_uc003dap.3_Splice_Site_p.G494_splice	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	494	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AACCCCAGTCCCTGAAGGGAG	0.587000														0			34		0	0	0.00058488	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962467	69962467	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:69962467T>C	uc003heg.4	+	0	275	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	UGT2B7_uc010ihq.3_Missense_Mutation_p.Y77H	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.I76I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AATTGAAATTTATCCCACATC	0.368000														38			30		0	0	0.000279167	0	0
HIF3A	64344	broad.mit.edu	37	19	46832713	46832713	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:46832713C>T	uc002peh.3	+	11	1721	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	HIF3A_uc002peg.4_Missense_Mutation_p.P564S|HIF3A_uc021uwf.1_Missense_Mutation_p.P508S|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P495S|HIF3A_uc002pel.3_Missense_Mutation_p.P562S|HIF3A_uc010xxz.2_Missense_Mutation_p.P513S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	564	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)		AGCATCCTCTCCCATGGCTGG	0.662000														5			7		0	0	8.12818e-05	0	0
CLDN6	9074	broad.mit.edu	37	16	3065551	3065551	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:3065551G>C	uc021tbb.1	-	0	472	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	CLDN6_uc002csu.4_Missense_Mutation_p.R158G	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	158					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCAGCTCCCGCTTTTGGGCC	0.647000														11			4		0	0	3.59834e-05	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227972	74227972	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:74227972G>A	uc003phi.3	-	5	2037	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	EEF1A1_uc003phj.3_Missense_Mutation_p.H349Y|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	349						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGCCTGGATGGTTCAGGATA	0.428000														43			38		0	0	0.000374591	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788759	3788759	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:3788759G>A	uc002fwv.3	-	1	371	c.223C>T	c.(223-225)Cta>Tta	p.L75L	CAMKK1_uc002fwt.3_Silent_p.L75L|CAMKK1_uc002fwu.3_Silent_p.L75L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	75					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGCTCCTGTAGGGAAAGCTTC	0.677000														12			12		0	0	0.000978159	0	0
PHGDH	26227	broad.mit.edu	37	1	120269702	120269703	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:120269702_120269703CG>AT	uc001ehz.3	+	4	714_715	c.487_488CG>AT	c.(487-489)cgg>ATg	p.R163M	PHGDH_uc009whl.3_Missense_Mutation_p.R65M|PHGDH_uc009whm.3_Missense_Mutation_p.R61M|PHGDH_uc001eib.3_Missense_Mutation_p.R129M	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	163					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGTAGCTACCCGGATGCAGTCC	0.515000														570			13		0	0	6.4e-05	0	0
PLG	5340	broad.mit.edu	37	6	161132170	161132170	+	Silent	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:161132170A>G	uc003qtm.4	+	3	466	c.354A>G	c.(352-354)acA>acG	p.T118T	PLG_uc021zhr.1_Silent_p.T118T	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	118	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTCCAAAACAAAAAATGGCA	0.433000														27			30		0	0	0.00058488	0	0
EVX2	344191	broad.mit.edu	37	2	176944868	176944868	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:176944868C>T	uc010zeu.2	-	2	1584	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCCTCTGGTCCGGCGGGCTCA	0.726000														4			4		0	0	0.00024832	0	0
DOCK11	139818	broad.mit.edu	37	X	117700054	117700054	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:117700054G>A	uc004eqp.2	+	7	843	c.780G>A	c.(778-780)atG>atA	p.M260I	DOCK11_uc004eqq.2_Missense_Mutation_p.M26I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	260	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCAGGAAATGGAGGAATGGT	0.398000														330			74		0	0	0.000781405	0	0
BLM	641	broad.mit.edu	37	15	91358331	91358332	+	Splice_Site	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:91358331_91358332GG>TT	uc002bpr.3	+	22	4174	c.4077_splice	c.e22-1	p.G1359_splice	BLM_uc010uqh.2_Splice_Site_p.G1359_splice|BLM_uc010uqi.2_Splice_Site_p.G984_splice|BLM_uc010bnx.3_Splice_Site_p.G1228_splice	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1359					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding	p.G1359G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCACATTTCAGGGGGTCTGCCA	0.431000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					367			11		0	0	6.4e-05	0	0
ANKRD28	23243	broad.mit.edu	37	3	15711867	15711867	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:15711867G>A	uc003caj.1	-	27	3215	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	ANKRD28_uc003cai.1_Silent_p.S870S|ANKRD28_uc011avz.1_Silent_p.S870S|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011avy.1_Silent_p.S104S	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	1024						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACTGCAATAGGAGCTAGGTT	0.438000														4			77		0	0	0.000781405	0	0
ADAM7	8756	broad.mit.edu	37	8	24324426	24324426	+	Silent	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:24324426T>C	uc003xeb.3	+	5	617	c.504T>C	c.(502-504)taT>taC	p.Y168Y	ADAM7_uc003xea.1_Silent_p.Y168Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	168					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)		GTGCCAATTATTCCTGTACAG	0.363000														42			56		0	0	0.000781405	0	0
KLHL4	56062	broad.mit.edu	37	X	86869004	86869004	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:86869004G>A	uc004efa.2	+	1	729	c.547G>A	c.(547-549)Gat>Aat	p.D183N	KLHL4_uc004efb.2_Missense_Mutation_p.D183N	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	183	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACAACTATGTGATGTGCTACT	0.398000														48			16		0	0	0.000422831	0	0
CSMD1	64478	broad.mit.edu	37	8	2976104	2976104	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:2976104C>T	uc022aqr.1	-	41	6637	c.6247G>A	c.(6247-6249)Gaa>Aaa	p.E2083K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1476K|CSMD1_uc010lrg.3_Missense_Mutation_p.E152K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2084	CUB 12.					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)		TTCTGTAATTCATAGGCTGAA	0.408000														33			28		0	0	0.000227799	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391301	3391301	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:3391301C>T	uc001akg.4	+	8	1583	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF16_uc001aki.3_Silent_p.S157S|ARHGEF16_uc001akj.3_Silent_p.S157S|ARHGEF16_uc010nzh.2_Silent_p.S149S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	445	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGGCCACTCCGAAAGGTACA	0.632000														38			26		0	0	0.000227799	0	0
ENPP1	5167	broad.mit.edu	37	6	132179870	132179870	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:132179870C>T	uc011ecf.2	+	6	798	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	ENPP1_uc003qcy.3_5'Flank	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	260	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTCCCCAATCACTACAGCAT	0.318000														25			16		0	0	0.00074312	0	0
KCNN1	3780	broad.mit.edu	37	19	18084949	18084949	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:18084949G>A	uc002nht.3	+	2	562	c.252G>A	c.(250-252)ggG>ggA	p.G84G	KCNN1_uc010xqa.1_Silent_p.G84G	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	84					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GAGCCTCGGGGAAACCCTCAA	0.672000														20			19		0	0	0.000878237	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040438	128040438	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:128040438G>A	uc011kol.1	-	4	586	c.480C>T	c.(478-480)tcC>tcT	p.S160S	IMPDH1_uc011kom.1_Silent_p.S155S|IMPDH1_uc003vmt.2_Silent_p.S135S|IMPDH1_uc003vmu.2_Silent_p.S245S|IMPDH1_uc003vmx.2_Silent_p.S168S|IMPDH1_uc003vmy.2_Silent_p.S176S|IMPDH1_uc003vmw.2_Silent_p.S235S|IMPDH1_uc011kon.1_Silent_p.S212S|IMPDH1_uc003vmv.2_Silent_p.S209S	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	160	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CGATGTCTCGGGAGGTGACGA	0.617000														10			13		0	0	0.000151284	0	0
FBXW7	55294	broad.mit.edu	37	4	153247170	153247170	+	Silent	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:153247170G>C	uc003ims.3	-	9	1794	c.1632C>G	c.(1630-1632)gtC>gtG	p.V544V	FBXW7_uc011cii.2_Silent_p.V544V|FBXW7_uc003imt.3_Silent_p.V544V|FBXW7_uc011cih.2_Silent_p.V368V|FBXW7_uc003imq.3_Silent_p.V464V|FBXW7_uc003imr.3_Silent_p.V426V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	544					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R543K(1)|p.R543G(1)|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)				GTAATGAATAGACTCTATTAG	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									2			35		0	0	0.00111076	0	0
FAT3	120114	broad.mit.edu	37	11	92087074	92087074	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:92087074C>A	uc001pdj.4	+	0	1813	c.1796C>A	c.(1795-1797)gCa>gAa	p.A599E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	599	Cadherin 6.				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)				CACATCACAGCAGTCTCAGCG	0.393000										TCGA Ovarian(4;0.039)				113			91		1.32003e-40	2.0683e-39	0.000781405	1	0
RXFP2	122042	broad.mit.edu	37	13	32367085	32367085	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:32367085G>A	uc001utt.3	+	15	1717	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	RXFP2_uc010aba.3_Missense_Mutation_p.G525E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	549						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGATGGCGGGATTTTTAATA	0.388000														26			32		0	0	0.00058488	0	0
MLL3	58508	broad.mit.edu	37	7	151860294	151860295	+	Nonsense_Mutation	DNP	GG	TT	TT	rs146018427		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:151860294_151860295GG>TT	uc003wla.3	-	42	10586_10587	c.10367_10368CC>AA	c.(10366-10368)tcc>tAA	p.S3456*	MLL3_uc003wkz.3_Nonsense_Mutation_p.S2517*|MLL3_uc003wky.3_Nonsense_Mutation_p.S965*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3456	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGGTAAGTCGGAACTGTAGAA	0.475000			N		medulloblastoma									165			6		0	0	6.4e-05	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459731	107459731	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:107459731C>T	uc002tdq.3	-	1	822	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G235R|ST6GAL2_uc002tds.3_Missense_Mutation_p.G235R	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	235					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G235W(2)|p.G235V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAGCGCACCCCGTGCTTGTTG	0.677000														7			11		0	0	0.000673444	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130022	35130022	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:35130022C>T	uc003teq.1	-	20	2270	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GGCAGATTTTCGACTATATGT	0.274000														54			36		0	0	0.000692331	0	0
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:195505851T>C	uc021xjp.1	-	1	12756	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	963					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592000														0			2		0	0	6.4e-05	0	0
C8orf47	203111	broad.mit.edu	37	8	99101486	99101486	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:99101486G>A	uc003yih.1	+	1	389	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	81										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACCCCTCCAAGAACAGCCCCT	0.527000														55			36		0	0	0.000228196	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176911	193176911	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:193176911C>T	uc003ftd.3	-	13	1741	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R	ATP13A4_uc003fte.1_Missense_Mutation_p.G545R|ATP13A4_uc011bsr.1_Missense_Mutation_p.G16R|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.G251R	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	545					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.Q544H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGAGGGTCTCCCTGGATGGTC	0.547000														4			49		0	0	0.000781405	0	0
CAPN6	827	broad.mit.edu	37	X	110494965	110494966	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:110494965_110494966GG>TT	uc004epc.2	-	5	895_896	c.704_705CC>AA	c.(703-705)ccc>cAA	p.P235Q	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	235	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTCCTGATTGGGAGACTGAGA	0.441000														425			10		0	0	6.4e-05	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927162	130927162	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:130927162G>A	uc001uil.2	-	7	900	c.684C>T	c.(682-684)ttC>ttT	p.F228F	RIMBP2_uc001uim.3_Silent_p.F136F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	228	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAAAGTCCACGAAGTTGGAGG	0.602000														27			28		0	0	0.000409698	0	0
OR7E24	26648	broad.mit.edu	37	19	9362304	9362304	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:9362304C>T	uc002mlb.1	+	0	585	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTTCTAATTTCTTCTGTGACC	0.398000														40			19		0	0	0.000229342	0	0
PARP12	64761	broad.mit.edu	37	7	139754564	139754564	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:139754564C>T	uc003vvl.1	-	4	1635	c.761_splice	c.e4-1	p.E254_splice	PARP12_uc010lnf.1_Splice_Site	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	254						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCTTTTCTTTCTGCAAAGAAA	0.423000														31			19		0	0	0.00074312	0	0
WNK3	65267	broad.mit.edu	37	X	54324689	54324690	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54324689_54324690TT>AA	uc004dtc.2	-	6	1755_1756	c.1316_1317AA>TT	c.(1315-1317)aaa>aTT	p.K439I	WNK3_uc004dtd.2_Missense_Mutation_p.K439I	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	439					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTGTTTGCCTTTCAATTTTTT	0.381000														121			34		0	0	6.4e-05	0	0
WDR16	146845	broad.mit.edu	37	17	9515788	9515788	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:9515788C>T	uc010coc.3	+	8	1276	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	WDR16_uc002gly.3_Silent_p.V339V|WDR16_uc002glz.3_Silent_p.V271V			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	339						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGATATTGTCTTTCCATTGT	0.383000														35			19		0	0	0.000175454	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768953	140768953	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140768953C>T	uc003lkc.2	+	0	1502	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	505	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGTCATCCTACGTGTCC	0.622000														6			38		0	0	0.00111076	0	0
ATRX	546	broad.mit.edu	37	X	76938778	76938779	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:76938778_76938779GG>TT	uc004ecp.4	-	8	2201_2202	c.1969_1970CC>AA	c.(1969-1971)cca>AAa	p.P657K	ATRX_uc004ecq.4_Missense_Mutation_p.P619K|ATRX_uc004eco.4_Missense_Mutation_p.P442K|ATRX_uc004ecr.2_Missense_Mutation_p.P589K|ATRX_uc010nlx.1_Missense_Mutation_p.P628K|ATRX_uc010nly.1_Missense_Mutation_p.P602K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	657					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTTACACGTGGGGATCTTCGA	0.376000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							468			11		0	0	6.4e-05	0	0
OR4N2	390429	broad.mit.edu	37	14	20296145	20296145	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20296145G>A	uc010tkv.2	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	180					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)		CTTCTTCTGTGATGTCCCACA	0.542000														173			55		0	0	0.000781405	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														67			4		0	0	0.00024832	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472882	70472882	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70472882C>T	uc004dzh.2	-	1	403	c.224G>A	c.(223-225)gGa>gAa	p.G75E	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.G75E|ZMYM3_uc004dzj.2_Missense_Mutation_p.G75E|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Missense_Mutation_p.G75E	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	75					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCAGTGGCTCCATCCAGGAC	0.652000														10			28		0	0	0.000692331	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905588	180905588	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:180905588G>A	uc001gok.2	+	4	2610	c.2543G>A	c.(2542-2544)aGa>aAa	p.R848K	KIAA1614_uc001gol.1_Missense_Mutation_p.R469K|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	848										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCTCCTTCAAGAAGCGCGGTT	0.637000														14			18		0	0	0.00074312	0	0
PGAP2	27315	broad.mit.edu	37	11	3845364	3845364	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:3845364C>T	uc010qxw.2	+	5	797	c.772_splice	c.e5+1	p.T258_splice	PGAP2_uc001lyl.3_Splice_Site_p.T158_splice|PGAP2_uc010qxy.2_Splice_Site_p.T197_splice|PGAP2_uc001lyn.4_Splice_Site_p.H93_splice|PGAP2_uc010qya.2_Splice_Site|PGAP2_uc010qyb.2_Splice_Site_p.H143_splice|PGAP2_uc001lys.3_Splice_Site_p.T201_splice|PGAP2_uc001lyt.3_Splice_Site|PGAP2_uc021qcm.1_Splice_Site_p.T140_splice	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	201					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCGAGGACTTCAGTGGGTGCC	0.607000														0			18		0	0	0.000566183	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914532	39914532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:39914532C>T	uc010xuz.2	+	18	3084	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S861F|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S698F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	920					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	Rho guanyl-nucleotide exchange factor activity	p.L920P(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATGTTTCCAATTTGCCT	0.592000														38			41		0	0	0.000680045	0	0
MEIS1	4211	broad.mit.edu	37	2	66670064	66670065	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:66670064_66670065CG>AT	uc002sdu.3	+	5	971_972	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	MEIS1_uc002sdt.3_Missense_Mutation_p.R172M|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.R107M|MEIS1_uc002sdw.1_Missense_Mutation_p.R28M	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	172							sequence-specific DNA binding transcription factor activity	p.R172fs*6(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TTTCTGCCACCGGTATATTAGC	0.356000														412			8		0	0	6.4e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41684158	41684158	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41684158G>A	uc002yyq.1	-	8	2364	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	638	Ig-like C2-type 7.				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)				AGGCTCCCAGGGATTGGCCGG	0.532000														25			11		0	0	0.000219431	0	0
EMD	2010	broad.mit.edu	37	X	153608125	153608125	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:153608125C>T	uc004fkl.3	+	1	406	c.158C>T	c.(157-159)tCg>tTg	p.S53L		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	53	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCCAGCTCGTCCGCCGCC	0.672000														88			31		0	0	0.000409698	0	0
PCDH9	5101	broad.mit.edu	37	13	66878990	66878990	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:66878990C>T	uc001vik.3	-	4	4203	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.D1137N|PCDH9_uc010thl.2_Missense_Mutation_p.D1129N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1171					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACAAGCTTGTCCTTCTTCACC	0.502000														16			14		0	0	0.000566183	0	0
ESM1	11082	broad.mit.edu	37	5	54281137	54281137	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:54281137G>A	uc003jpk.3	-	0	278	c.209C>T	c.(208-210)tCa>tTa	p.S70L	ESM1_uc010ivt.3_Missense_Mutation_p.S70L	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	70	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			ATCCATGCCTGAGACTGTGCG	0.577000														2			23		0	0	0.000229342	0	0
SVEP1	79987	broad.mit.edu	37	9	113251994	113251994	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:113251994G>A	uc010mtz.3	-	8	2203	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	SVEP1_uc010mua.1_Silent_p.I622I|SVEP1_uc004beu.2_Silent_p.I622I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	622	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A621V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGTGTATACGATAGCAACAT	0.428000														1			9		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21235018	21235018	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:21235018G>A	uc002red.3	-	25	4850	c.4722C>T	c.(4720-4722)acC>acT	p.T1574T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1574					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)	ACTTCCCATTGGTGTCAGATT	0.423000														239			204		0	0	0.000781405	0	0
ALB	213	broad.mit.edu	37	4	74270068	74270068	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:74270068C>T	uc003hgs.4	+	0	97	c.24C>T	c.(22-24)tcC>tcT	p.S8S	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Silent_p.S8S|ALB_uc011cbf.2_5'Flank	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	8					bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S8F(1)		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)	CCTTTATTTCCCTTCTTTTTC	0.398000														52			35		0	0	0.000270559	0	0
ENTPD6	955	broad.mit.edu	37	20	25203498	25203498	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:25203498C>T	uc002wuj.2	+	11	1250	c.1070C>T	c.(1069-1071)gCt>gTt	p.A357V	ENTPD6_uc002wum.2_Missense_Mutation_p.A340V|ENTPD6_uc010zta.1_Missense_Mutation_p.A357V|ENTPD6_uc002wuk.2_Missense_Mutation_p.A356V|ENTPD6_uc002wul.2_Missense_Mutation_p.A356V|ENTPD6_uc010ztb.1_Missense_Mutation_p.A329V|ENTPD6_uc010ztc.1_Missense_Mutation_p.A329V|ENTPD6_uc002wuo.2_Missense_Mutation_p.A109V|ENTPD6_uc010zsz.1_Missense_Mutation_p.A139V|ENTPD6_uc010ztd.1_Missense_Mutation_p.A105V|ENTPD6_uc010gdl.1_Non-coding_Transcript|ENTPD6_uc010gdk.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	357						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GAGCTGTGTGCTGCCAGAGTG	0.587000														52			63		0	0	0.000781405	0	0
FAM57A	79850	broad.mit.edu	37	17	641230	641230	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:641230C>T	uc002frp.3	+	2	392	c.351C>T	c.(349-351)aaC>aaT	p.N117N	FAM57A_uc002frq.3_Silent_p.N117N|FAM57A_uc002frr.3_Silent_p.N27N	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	Homo sapiens family with sequence similarity 57, member A (FAM57A), mRNA.	117	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TAAGTCGAAACCGCCTCATGA	0.542000														75			60		0	0	0.000781405	0	0
KIF1A	547	broad.mit.edu	37	2	241660367	241660367	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241660367G>A	uc010fzk.3	-	44	5079	c.4832C>T	c.(4831-4833)tCt>tTt	p.S1611F	KIF1A_uc002vzy.3_Missense_Mutation_p.S1510F|KIF1A_uc002vzw.3_Missense_Mutation_p.S171F|KIF1A_uc002vzx.3_Missense_Mutation_p.S237F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1510	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCAACCAGAGAGGGGCAAGT	0.652000														5			6		0	0	8.12818e-05	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552668	173552668	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:173552668C>T	uc001giz.2	-	5	1040	c.617G>A	c.(616-618)aGa>aAa	p.R206K	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	206					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAGTGGATTCTGTTGCCCCG	0.274000														27			29		0	0	0.000227799	0	0
NMD3	51068	broad.mit.edu	37	3	160942812	160942813	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:160942812_160942813CC>TT	uc003feb.1	+	2	258_259	c.139_140CC>TT	c.(139-141)ccg>TTg	p.P47L	NMD3_uc003fec.3_Missense_Mutation_p.P47L|NMD3_uc003fed.1_Missense_Mutation_p.P47L	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	47					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CCAAGGTATTCCGAAACAAGTC	0.411000														3			66		0	0	6.4e-05	0	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:48866516C>T	uc010slt.2	+	0	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000														84			51		0	0	0.000781405	0	0
UPF2	26019	broad.mit.edu	37	10	12071484	12071485	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:12071484_12071485CC>AA	uc001ila.3	-	1	878_879	c.404_405GG>TT	c.(403-405)tgg>tTT	p.W135F	UPF2_uc001ilb.3_Missense_Mutation_p.W135F|UPF2_uc001ilc.3_Missense_Mutation_p.W135F|UPF2_uc009xiz.2_Missense_Mutation_p.W135F	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	135	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GATGTCGTTCCCAAGCTTCCTG	0.371000														622			16		0	0	6.4e-05	0	0
NPHS1	4868	broad.mit.edu	37	19	36336419	36336419	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36336419G>A	uc002oby.3	-	13	1937	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	594	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCTCCGGGGTGGGGCGGC	0.716000														6			4		0	0	0.00024832	0	0
HERC1	8925	broad.mit.edu	37	15	63932498	63932498	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63932498G>A	uc002amp.3	-	60	11902	c.11754C>T	c.(11752-11754)tcC>tcT	p.S3918S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3918					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGGATTCCAGGATGCAGGGT	0.507000														69			67		0	0	0.000781405	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961170	73961170	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:73961170C>T	uc004eby.3	-	2	3839	c.3222G>A	c.(3220-3222)ccG>ccA	p.P1074P		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1074					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.P1074P(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGGGGTGTCCGGTGGGGACA	0.498000														69			23		0	0	0.000720815	0	0
DFNB59	494513	broad.mit.edu	37	2	179318186	179318187	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179318186_179318187GG>AA	uc002umi.4	+	1	406_407	c.50_51GG>AA	c.(49-51)ggg>gAA	p.G17E	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umd.3_5'Flank|PRKRA_uc002ume.3_5'Flank|PRKRA_uc002umf.3_5'Flank|PRKRA_uc002umg.3_5'Flank|DFNB59_uc002umj.4_Missense_Mutation_p.G17E	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	17					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGAGATGGAGGGAGATTAGTTC	0.391000														39			39		0	0	6.4e-05	0	0
CCDC81	60494	broad.mit.edu	37	11	86123499	86123500	+	Missense_Mutation	DNP	GG	AA	AA	rs143484591		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:86123499_86123500GG>AA	uc001pbx.2	+	10	1717_1718	c.1289_1290GG>AA	c.(1288-1290)cgg>cAA	p.R430Q	CCDC81_uc001pbw.2_Missense_Mutation_p.R340Q|CCDC81_uc010rtq.2_Missense_Mutation_p.R213Q|CCDC81_uc001pby.2_Missense_Mutation_p.R165Q	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	430								p.E430*(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAATATTCCCGGAGTCTCCTGA	0.421000														59			53		0	0	6.4e-05	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561796	11561796	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:11561796C>T	uc001ash.4	+	1	885	c.747C>T	c.(745-747)gcC>gcT	p.A249A	PTCHD2_uc001asi.1_Silent_p.A249A	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	249					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGAGCCGTGCCCGCCGAGGCG	0.682000														5			9		0	0	0.000442599	0	0
TXLNA	200081	broad.mit.edu	37	1	32653693	32653693	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32653693C>A	uc001bui.3	+	4	801	c.736C>A	c.(736-738)Cgt>Agt	p.R246S	TXLNA_uc001buj.3_Missense_Mutation_p.R246S	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	246					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGCCTATGCCGTGAGCTGCA	0.587000														4			7		0.000157383	0.00238905	0.000157383	1	0
PLCH1	23007	broad.mit.edu	37	3	155210562	155210562	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:155210562G>A	uc021xge.1	-	16	2504	c.2227C>T	c.(2227-2229)Caa>Taa	p.Q743*	PLCH1_uc021xgd.1_Nonsense_Mutation_p.Q743*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.Q725*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	743	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGGGGAGTTGCTGTCCACTG	0.453000														2			34		0	0	0.000692331	0	0
PREX2	80243	broad.mit.edu	37	8	69021652	69021652	+	Splice_Site	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:69021652G>A	uc003xxv.1	+	25	2966	c.2939_splice	c.e25-1	p.G980_splice	PREX2_uc011lez.1_Splice_Site_p.G915_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	980					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCCTCAGGGAAACTGAGCC	0.423000														12			12		0	0	0.00010058	0	0
CEP135	9662	broad.mit.edu	37	4	56885642	56885642	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:56885642C>T	uc003hbi.3	+	22	3370	c.3136C>T	c.(3136-3138)Cat>Tat	p.H1046Y	CEP135_uc003hbj.3_Missense_Mutation_p.H752Y	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	1046					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.H1046Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAATTTCATTCTCACTT	0.358000														20			23		0	0	0.000375601	0	0
HSPB7	27129	broad.mit.edu	37	1	16344347	16344347	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:16344347C>T	uc001axr.2	-	0	939	c.376G>A	c.(376-378)Gac>Aac	p.D126N	HSPB7_uc001axo.2_Missense_Mutation_p.D38N|HSPB7_uc001axp.2_Missense_Mutation_p.D126N|HSPB7_uc001axq.2_Missense_Mutation_p.D126N|HSPB7_uc001axs.2_Splice_Site_p.D113_splice|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	38					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCGGGTCCTGGGCCGGG	0.622000														7			9		0	0	0.000978159	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805651	96805651	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:96805651C>T	uc001kkb.3	-	5	972	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C8_uc010qoa.2_Missense_Mutation_p.D223N|CYP2C8_uc010qoc.2_Missense_Mutation_p.D191N|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.D207N|CYP2C8_uc021pwl.1_Missense_Mutation_p.D223N|CYP2C8_uc010qod.1_Missense_Mutation_p.D207N	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	293					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAAATAGATCAGCTACAGTG	0.433000														1			26		0	0	0.000878237	0	0
CENPI	2491	broad.mit.edu	37	X	100364500	100364501	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:100364500_100364501CC>AA	uc004egx.3	+	3	673_674	c.403_404CC>AA	c.(403-405)cca>AAa	p.P135K	CENPI_uc011mrg.2_Missense_Mutation_p.P135K|CENPI_uc004egy.3_Missense_Mutation_p.P135K	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	135					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTGCATGATCCCAGCAACAGTA	0.381000														741			12		0	0	6.4e-05	0	0
PLXNC1	10154	broad.mit.edu	37	12	94634386	94634387	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:94634386_94634387CC>TT	uc001tdc.3	+	10	2495_2496	c.2246_2247CC>TT	c.(2245-2247)tcc>tTT	p.S749F		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	749					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGATCCTTATCCTACATTGCTC	0.421000														89			80		0	0	6.4e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	3205660	3205660	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:3205660C>T	uc022aqr.1	-	21	3718	c.3328G>A	c.(3328-3330)Gga>Aga	p.G1110R	CSMD1_uc011kwj.2_Missense_Mutation_p.G503R|CSMD1_uc003wqe.3_Missense_Mutation_p.G267R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1111	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCATTTCCTTTGACACTT	0.338000														20			15		0	0	0.00074312	0	0
ZNF777	27153	broad.mit.edu	37	7	149129698	149129698	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:149129698G>A	uc003wfv.3	-	5	1828	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTTCAGGCGGAAGCTCTTGC	0.647000														14			10		0	0	0.000978159	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:237947421G>A	uc001hyl.1	+	89	12529	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_uc010pya.2_Missense_Mutation_p.E552K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4137					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	p.M4137I(1)|p.E4135K(1)		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)			GGGCCGCATCGAAATCATGGG	0.512000														34			39		0	0	0.000228196	0	0
FANCM	57697	broad.mit.edu	37	14	45645631	45645631	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:45645631G>A	uc001wwd.4	+	13	3773	c.3674G>A	c.(3673-3675)aGg>aAg	p.R1225K	FANCM_uc010anf.3_Missense_Mutation_p.R1199K|FANCM_uc001wwe.4_Missense_Mutation_p.R761K|FANCM_uc010ang.3_Missense_Mutation_p.R439K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1225					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTGCTCTAGGGATTTATTT	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					32			23		0	0	0.00047179	0	0
NBEAL1	65065	broad.mit.edu	37	2	204016278	204016279	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:204016278_204016279CC>AA	uc002uzt.3	+	33	5799_5800	c.5466_5467CC>AA	c.(5464-5469)acccat>acAAat	p.H1823N	NBEAL1_uc021vvj.1_Missense_Mutation_p.H526N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1823							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTCAAAACCCATGAGGAAGC	0.386000														409			10		0	0	6.4e-05	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746418	121746419	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:121746418_121746419CC>AA	uc001uag.3	-	16	2254_2255	c.2132_2133GG>TT	c.(2131-2133)agg>aTT	p.R711I	ANAPC5_uc010szu.2_Missense_Mutation_p.R377I|ANAPC5_uc001uae.3_Missense_Mutation_p.R275I|ANAPC5_uc010szv.2_Missense_Mutation_p.R313I|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.R599I	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	711					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACGACGTCCCTGATGCGCTC	0.540000														735			13		0	0	6.4e-05	0	0
ST5	6764	broad.mit.edu	37	11	8732710	8732710	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:8732710G>A	uc001mgt.3	-	9	2427	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	ST5_uc009yfr.3_Silent_p.F327F|ST5_uc001mgu.3_Silent_p.F327F|ST5_uc001mgv.3_Silent_p.F747F|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Silent_p.F260F|ST5_uc009yfs.3_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	747	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGCATCAGGGAAGCAAAACT	0.567000														1			29		0	0	0.000692331	0	0
THAP4	51078	broad.mit.edu	37	2	242524133	242524134	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:242524133_242524134CG>AT	uc002wbt.3	-	5	1914_1915	c.1621_1622CG>AT	c.(1621-1623)cgg>ATg	p.R541M	THAP4_uc002wbs.3_Missense_Mutation_p.R129M|5S_rRNA_uc021vzi.1_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	541							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCTGAACTTCCGGGTGATCTGA	0.480000														268			7		0	0	6.4e-05	0	0
C2orf16	84226	broad.mit.edu	37	2	27804562	27804563	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:27804562_27804563GA>AT	uc002rkz.4	+	0	5174_5175	c.5123_5124GA>AT	c.(5122-5124)aga>aAT	p.R1708N	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1708	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.R1708I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGAGAGAAGACATCACA	0.584000														101			98		0	0	6.4e-05	0	0
AGA	175	broad.mit.edu	37	4	178360783	178360783	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:178360783A>T	uc003iuu.2	-	2	469	c.341T>A	c.(340-342)gTg>gAg	p.V114E	AGA_uc003iuw.3_Missense_Mutation_p.V114E|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	114					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTTCCGTGCCACACCAATAGC	0.363000														179			120		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197398614	197398614	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:197398614C>T	uc001gtz.3	+	7	2921	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CRB1_uc010poz.2_Silent_p.S880S|CRB1_uc009wza.3_Silent_p.S792S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.S385S|CRB1_uc001gub.1_Silent_p.S553S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	904	EGF-like 13.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.H903N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGCCATTCCCGGTGGGATG	0.507000														24			22		0	0	0.00047179	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682655	7682655	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:7682655G>A	uc002mgu.4	+	18	3644	c.3543G>A	c.(3541-3543)aaG>aaA	p.K1181K	CAMSAP3_uc002mgv.4_Silent_p.K1154K|CAMSAP3_uc002mgw.3_Silent_p.K284K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1154	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGAAAAGCAAGGCCAACCACT	0.632000														28			28		0	0	0.00106085	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136619275	136619275	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:136619275C>T	uc003yuv.3	+	6	1279	c.885C>T	c.(883-885)gcC>gcT	p.A295A	KHDRBS3_uc003yuw.3_Intron|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	295	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCACCCCAGCCCAAAGGTAAG	0.423000														25			25		0	0	0.000720815	0	0
C16orf45	89927	broad.mit.edu	37	16	15677012	15677012	+	Splice_Site	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:15677012G>A	uc002ddo.3	+	5	606	c.420_splice	c.e5-1	p.R140_splice	C16orf45_uc002ddp.3_Splice_Site_p.R123_splice	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	140										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TACTTTCACAGGGAGCAAGAA	0.378000														103			24		0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179429054	179429054	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179429054C>T	uc021vsy.1	-	274	74326	c.74101G>A	c.(74101-74103)Gaa>Aaa	p.E24701K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18396K|TTN_uc021vta.1_Missense_Mutation_p.E18329K|TTN_uc021vtb.1_Missense_Mutation_p.E18204K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25628	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24700K(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)			GCATCAATTTCATCTCTTGCA	0.398000														27			33		0	0	0.00058488	0	0
RAI2	10742	broad.mit.edu	37	X	17819307	17819307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:17819307G>A	uc022btm.1	-	0	824	c.824C>T	c.(823-825)cCc>cTc	p.P275L	RAI2_uc004cyf.3_Missense_Mutation_p.P275L|RAI2_uc004cyg.3_Missense_Mutation_p.P275L|RAI2_uc011miy.2_Missense_Mutation_p.P225L|RAI2_uc022btl.1_Missense_Mutation_p.P275L|RAI2_uc004cyh.4_Missense_Mutation_p.P275L|RAI2_uc010nfa.3_Missense_Mutation_p.P275L	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	275					embryo development			p.H274P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTTAAAGGGGTGCAGGCC	0.547000														102			95		0	0	0.000781405	0	0
OR2T33	391195	broad.mit.edu	37	1	248436262	248436262	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:248436262G>A	uc010pzi.2	-	0	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	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)			TGTAGATGAGGGGGTTTAGTA	0.473000														68			51		0	0	0.000781405	0	0
IRS4	8471	broad.mit.edu	37	X	107977539	107977539	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107977539G>T	uc004eoc.2	-	0	2069	c.2036C>A	c.(2035-2037)cCa>cAa	p.P679Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	679	CRK-binding.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCACCTTCTGGGATCTCTGC	0.502000														874			21		8.34094e-07	1.2755e-05	0.000132079	1	0
GPAT2	150763	broad.mit.edu	37	2	96689126	96689126	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:96689126C>A	uc002svf.3	-	17	2182	c.1959G>T	c.(1957-1959)tgG>tgT	p.W653C	GPAT2_uc002sve.3_Missense_Mutation_p.W455C|GPAT2_uc002svd.3_Missense_Mutation_p.W472C|GPAT2_uc002svg.3_Missense_Mutation_p.W532C|GPAT2_uc010yuh.2_Missense_Mutation_p.W582C|GPAT2_uc002svh.3_Intron	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	653					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CACTCGGTTTCCACAGCAGCT	0.587000														23			19		1.40151e-16	2.17945e-15	0.000175454	1	0
ZC4H2	55906	broad.mit.edu	37	X	64140043	64140043	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64140043C>T	uc004dvu.3	-	2	472	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZC4H2_uc004dvv.3_Missense_Mutation_p.E83K|ZC4H2_uc022byd.1_Missense_Mutation_p.E83K|ZC4H2_uc022byc.1_Missense_Mutation_p.E83K|ZC4H2_uc011mow.2_Missense_Mutation_p.E106K|ZC4H2_uc011mov.2_Missense_Mutation_p.E83K|ZC4H2_uc004dvw.2_Missense_Mutation_p.E106K	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	106							metal ion binding|protein binding	p.E106*(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCACATGTTCTTTCAGTGGC	0.483000														119			26		0	0	0.000720815	0	0
TYRP1	7306	broad.mit.edu	37	9	12694240	12694240	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:12694240G>A	uc003zkv.4	+	1	422	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	82					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTATCCCCATGATGGCAGAGA	0.597000									Oculocutaneous Albinism					7			5		0	0	0.000602214	0	0
CHD9	80205	broad.mit.edu	37	16	53358296	53358296	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:53358296G>A	uc002ehb.3	+	37	8347	c.8183G>A	c.(8182-8184)gGa>gAa	p.G2728E	CHD9_uc002egy.3_Missense_Mutation_p.G2712E|CHD9_uc002ehc.3_Missense_Mutation_p.G2713E|CHD9_uc002ehf.3_Missense_Mutation_p.G1826E|CHD9_uc002ehg.2_Missense_Mutation_p.G1843E|CHD9_uc010cbw.3_Missense_Mutation_p.G794E	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2728					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGGGCATGGGAGGACTCCTG	0.493000														22			7		0	0	0.000274275	0	0
IFT88	8100	broad.mit.edu	37	13	21217681	21217681	+	Silent	SNP	T	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:21217681T>A	uc001unh.3	+	20	2193	c.1797T>A	c.(1795-1797)tcT>tcA	p.S599S	IFT88_uc001uni.3_Silent_p.S590S|IFT88_uc001unj.3_Silent_p.S589S|IFT88_uc010tcq.2_Silent_p.S570S	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	599					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGTTTTATCTAAGCTAGGAG	0.353000														35			38		0	0	0.00111076	0	0
ARMC1	55156	broad.mit.edu	37	8	66525582	66525582	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:66525582A>T	uc003xvl.3	-	3	617	c.362T>A	c.(361-363)tTt>tAt	p.F121Y	ARMC1_uc011leo.2_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	121					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CATCTCATTAAAACTATCACC	0.383000														57			70		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248790	140248790	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140248790C>T	uc003lia.2	+	0	960	c.102C>T	c.(100-102)tcC>tcT	p.S34S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.S34S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	47					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCGGAGG	0.647000														4			56		0	0	0.000781405	0	0
NR2E3	10002	broad.mit.edu	37	15	72104815	72104815	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:72104815C>T	uc002ati.3	+	4	901	c.711C>T	c.(709-711)aaC>aaT	p.N237N	NR2E3_uc002ath.1_Silent_p.N237N	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	237					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGGCCAAGAACCTGCCTGTGT	0.647000														17			11		0	0	0.000219431	0	0
CSMD3	114788	broad.mit.edu	37	8	114326961	114326961	+	Silent	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:114326961A>G	uc003ynu.3	-	1	399	c.240T>C	c.(238-240)ggT>ggC	p.G80G	CSMD3_uc003ynt.3_Silent_p.G40G|CSMD3_uc011lhx.2_Silent_p.G80G|CSMD3_uc010mcx.1_Silent_p.G80G|CSMD3_uc003ynx.4_Silent_p.G80G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	80	CUB 1.					integral to membrane|plasma membrane		p.P79P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATGGAAAACCAGGGCTTT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				95			64		0	0	0.000781405	0	0
THADA	63892	broad.mit.edu	37	2	43802035	43802036	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43802035_43802036CC>AA	uc002rsw.4	-	10	1520_1521	c.1168_1169GG>TT	c.(1168-1170)ggg>TTg	p.G390L	THADA_uc002rsx.4_Missense_Mutation_p.G390L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.G100L|THADA_uc002rta.2_Missense_Mutation_p.G100L|THADA_uc002rtb.1_Missense_Mutation_p.G390L|THADA_uc002rtc.4_Missense_Mutation_p.G390L|THADA_uc002rtd.3_Missense_Mutation_p.G390L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	390							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAAAAGTCTCCCAACTATACTT	0.436000														565			12		0	0	6.4e-05	0	0
ESF1	51575	broad.mit.edu	37	20	13755845	13755845	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:13755845G>A	uc002woj.3	-	3	1215	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ESF1_uc002wok.1_Silent_p.F369F	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TAAATGAATTGAACAGAGCCA	0.318000														70			68		0	0	0.000781405	0	0
UPF2	26019	broad.mit.edu	37	10	12071318	12071319	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:12071318_12071319GG>TT	uc001ila.3	-	1	1044_1045	c.570_571CC>AA	c.(568-573)tcccat>tcAAat	p.H191N	UPF2_uc001ilb.3_Missense_Mutation_p.H191N|UPF2_uc001ilc.3_Missense_Mutation_p.H191N|UPF2_uc009xiz.2_Missense_Mutation_p.H191N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	191	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAAATCATGGGACAAGGAGT	0.381000														850			17		0	0	6.4e-05	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863074	75863075	+	Missense_Mutation	DNP	AA	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:75863074_75863075AA>TT	uc001vjl.1	-	19	4005_4006	c.3658_3659TT>AA	c.(3658-3660)tta>AAa	p.L1220K	TBC1D4_uc010tht.1_Missense_Mutation_p.L430K|TBC1D4_uc010thu.1_Missense_Mutation_p.L377K|TBC1D4_uc010aer.2_Missense_Mutation_p.L1212K|TBC1D4_uc010aes.2_Missense_Mutation_p.L1157K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1220						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTACCTGTAATTTTTCTAGG	0.406000														13			15		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	8998736	8998736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:8998736C>T	uc002mkp.3	-	57	41051	c.40847G>A	c.(40846-40848)gGa>gAa	p.G13616E	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G433E|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13618				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGATGTTCCCAGGTCCAC	0.498000														5			4		0	0	0.00024832	0	0
INTS8	55656	broad.mit.edu	37	8	95879562	95879563	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:95879562_95879563CC>AA	uc003yhb.3	+	19	2537_2538	c.2411_2412CC>AA	c.(2410-2412)ccc>cAA	p.P804Q	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P631Q	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	804					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCTTCCATTCCCAAGTAAGTAG	0.302000														730			13		0	0	6.4e-05	0	0
KIRREL	55243	broad.mit.edu	37	1	158047896	158047897	+	Silent	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:158047896_158047897CC>TT	uc001frn.4	+	2	722_723	c.318_319CC>TT	c.(316-321)gccctg>gcTTtg	p.106_107AL>AL	KIRREL_uc010pib.2_Intron|KIRREL_uc009wsq.3_Silent_p.45_46AL>AL	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	106	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGGAGGCCGCCCTGCGCTCTCG	0.619000														51			44		0	0	6.4e-05	0	0
SORT1	6272	broad.mit.edu	37	1	109884743	109884744	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:109884743_109884744CC>AA	uc001dxm.2	-	8	1049_1050	c.1000_1001GG>TT	c.(1000-1002)ggg>TTg	p.G334L	SORT1_uc010ovi.2_Missense_Mutation_p.G197L	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	334					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|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	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome 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)		CCATGTGTCCCCTTGATCTGTT	0.446000														402			10		0	0	6.4e-05	0	0
MAP1A	4130	broad.mit.edu	37	15	43819247	43819247	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:43819247C>A	uc001zrt.3	+	3	6043	c.5576C>A	c.(5575-5577)cCa>cAa	p.P1859Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1859						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.S1858S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCTCTCCCCAGCTCCTGGT	0.627000														6			16		2.23348e-06	3.40915e-05	0.000422831	1	0
abParts	0	broad.mit.edu	37	14	106926285	106926285	+	RNA	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:106926285C>T	uc021ser.1	-	325		c.11583G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCTTCAC	0.493000														119			99		0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7660411	7660411	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7660411C>T	uc002giu.1	+	11	1921	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	636	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)				TCTCAAAGGTCCCTTCTGATT	0.567000														147			162		0	0	0.000781405	0	0
CT45A5	441521	broad.mit.edu	37	X	134948156	134948156	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:134948156C>T	uc004eze.3	-	3	415	c.170_splice	c.e3-1	p.K57_splice	CT45A5_uc022ces.1_Splice_Site_p.K57_splice|CT45A5_uc011mvu.2_Splice_Site_p.K57_splice	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	57										endometrium(1)|large_intestine(2)|lung(6)	9						GTCATAAGCTCTGGTGAAACA	0.428000														280			232		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82785023	82785023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82785023C>T	uc003uhx.2	-	1	1223	c.934G>A	c.(934-936)Gga>Aga	p.G312R	PCLO_uc003uhv.2_Missense_Mutation_p.G312R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	302	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGGTTTTCCAGGAGTTGGT	0.527000														27			29		0	0	0.000878237	0	0
ZNF831	128611	broad.mit.edu	37	20	57829289	57829289	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:57829289C>T	uc002yan.3	+	4	4525	c.4525C>T	c.(4525-4527)Cac>Tac	p.H1509Y		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1509						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGGAAATTCACAGTGCTGA	0.522000														15			17		0	0	0.000566183	0	0
CCDC129	223075	broad.mit.edu	37	7	31683099	31683099	+	Silent	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:31683099C>A	uc011kae.2	+	10	2205	c.2193C>A	c.(2191-2193)tcC>tcA	p.S731S	CCDC129_uc011kad.1_Silent_p.S715S|CCDC129_uc003tcj.1_Silent_p.S705S|CCDC129_uc003tci.1_Silent_p.S556S|CCDC129_uc003tck.1_Silent_p.S613S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	705										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGGCAGCTCCAGGTCTGTAA	0.537000														27			25		3.01185e-09	4.64004e-08	0.000586117	1	0
ABCA12	26154	broad.mit.edu	37	2	215831649	215831649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:215831649G>A	uc002vew.3	-	38	6027	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F	ABCA12_uc002vev.3_Missense_Mutation_p.S1618F|ABCA12_uc010zjn.2_Missense_Mutation_p.S863F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1936					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S1936S(1)		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)		AGCTGGAAGGGAGTGATAGCC	0.388000														18			11		0	0	0.000978159	0	0
OR51M1	390059	broad.mit.edu	37	11	5411355	5411355	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:5411355C>A	uc010qzc.2	+	0	749	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	243						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGCCTCCCAAGAGGAGCA	0.562000														1			19		1.55795e-14	2.41365e-13	0.000229342	1	0
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:53227586G>A	uc001sbb.3	-	0	492	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	153	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607000														80			89		0	0	0.000781405	0	0
FCRL3	115352	broad.mit.edu	37	1	157667100	157667100	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:157667100T>C	uc001fqz.4	-	5	966	c.674A>G	c.(673-675)cAa>cGa	p.Q225R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.Q225R|FCRL3_uc001frc.1_Missense_Mutation_p.Q225R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	225	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGGAGAATTGCAGCTGGAC	0.592000														31			32		0	0	0.00058488	0	0
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:40944562G>A	uc002xkg.3	-	11	2124	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_uc010ggj.3_Missense_Mutation_p.S647L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	647	Fibronectin type-III 4.				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)				CACGGGCACCGAAAAGCACTC	0.517000														48			35		0	0	0.000814825	0	0
GRM8	2918	broad.mit.edu	37	7	126173922	126173922	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:126173922G>A	uc003vlr.2	-	7	1825	c.1514C>T	c.(1513-1515)gCt>gTt	p.A505V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.A505V|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	505					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)	TTCTCTATGAGCCCACTGCAT	0.488000										HNSCC(24;0.065)				25			22		0	0	0.000295444	0	0
AIM1L	55057	broad.mit.edu	37	1	26650801	26650801	+	Splice_Site	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:26650801G>A	uc001bmd.4	-	18	4729	c.4579_splice	c.e18-1	p.R1527_splice		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	482							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TAAACCCGGCGCTGGTGGCAG	0.627000														14			7		0	0	0.000157383	0	0
CHTF18	63922	broad.mit.edu	37	16	840202	840202	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:840202G>A	uc002ckf.4	+	3	779	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.R211Q|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.R211Q|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	211					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GTCCCATGGCGAGGCGGTGGC	0.662000														3			5		0	0	3.59834e-05	0	0
FCER2	2208	broad.mit.edu	37	19	7763658	7763658	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:7763658C>T	uc002mhn.3	-	2	322	c.105G>A	c.(103-105)tgG>tgA	p.W35*	FCER2_uc021unx.1_Nonsense_Mutation_p.W34*|FCER2_uc002mhm.2_Nonsense_Mutation_p.W35*|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Nonsense_Mutation_p.W35*	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	35					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GCAGCCCAGCCCACAGAGCGG	0.662000														11			7		0	0	0.000442599	0	0
EHMT2	10919	broad.mit.edu	37	6	31864150	31864151	+	Nonsense_Mutation	DNP	GG	AA	AA	rs140758887		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31864150_31864151GG>AA	uc003nxz.1	-	3	481_482	c.471_472CC>TT	c.(469-474)gcccag>gcTTag	p.Q158*	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Nonsense_Mutation_p.Q215*|EHMT2_uc003nya.1_Nonsense_Mutation_p.Q158*|EHMT2_uc003nyb.1_Nonsense_Mutation_p.Q158*|CFB_uc003nyc.2_5'Flank|CFB_uc011doo.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	158					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCAGCTCCCTGGGCTCCTGGCA	0.604000														216			261		0	0	6.4e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32036847	32036848	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:32036847_32036848CC>AA	uc003nzl.2	-	15	5855_5856	c.5653_5654GG>TT	c.(5653-5655)ggg>TTg	p.G1885L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1967	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCAACTCCCCGAGGTGGGGC	0.584000														495			13		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31608163	31608164	+	Splice_Site	DNP	GG	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31608163_31608164GG>TT	uc003nvg.4	-	22	3362	c.3048_splice	c.e22+1	p.P1016_splice	BAG6_uc003nvf.4_Splice_Site_p.P1010_splice|BAG6_uc003nvi.4_Splice_Site_p.P1010_splice|BAG6_uc003nvh.4_Splice_Site_p.P1010_splice|BAG6_uc011dnw.2_Splice_Site_p.P1010_splice|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1016					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GACACTTACTGGGGGGACTGCA	0.554000														405			8		0	0	6.4e-05	0	0
SLC16A10	117247	broad.mit.edu	37	6	111540048	111540048	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:111540048C>T	uc003pus.3	+	4	1293	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLC16A10_uc003put.3_Missense_Mutation_p.S59F	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	373					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.S373P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGTCTGATGTCCATGATGATT	0.483000														91			82		0	0	0.000781405	0	0
SLC15A1	6564	broad.mit.edu	37	13	99368162	99368162	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:99368162G>A	uc001vno.3	-	8	770	c.693C>T	c.(691-693)aaC>aaT	p.N231N		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	231					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACCCATGATGTTGCCCTGTG	0.453000														74			47		0	0	0.000781405	0	0
GABRA3	2556	broad.mit.edu	37	X	151336724	151336724	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:151336724G>A	uc010ntk.1	-	9	1695	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	485					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATGCCCTTGATAGCTGACT	0.522000														67			16		0	0	0.000566183	0	0
WDR12	55759	broad.mit.edu	37	2	203762065	203762066	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:203762065_203762066CC>AA	uc002uzl.3	-	4	1161_1162	c.411_412GG>TT	c.(409-414)gtggga>gtTTga	p.G138*		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	138	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCGTATGTCCCACAATTGTCA	0.386000														716			14		0	0	6.4e-05	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778646	5778646	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:5778646G>A	uc002mda.3	+	21	2417	c.2356G>A	c.(2356-2358)Gga>Aga	p.G786R		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	786						integral to membrane											AGAGCCCCCGGGACGCCACCG	0.592000														28			27		0	0	0.000227799	0	0
NLRP9	338321	broad.mit.edu	37	19	56244763	56244763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56244763C>T	uc002qly.3	-	1	462	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	145						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CACAGTGTGTCGTCTAGCCGC	0.438000														54			48		0	0	0.000781405	0	0
CPA6	57094	broad.mit.edu	37	8	68346383	68346383	+	Nonsense_Mutation	SNP	G	A	A	rs139145929		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:68346383G>A	uc003xxq.4	-	8	1187	c.931C>T	c.(931-933)Cga>Tga	p.R311*	CPA6_uc003xxr.4_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	311					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGTGTTTTCGAAGGAAGTTA	0.423000														42			38		0	0	0.000814825	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635078	6635078	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:6635078G>A	uc001ant.3	+	2	982	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.V218M	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	296					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACTGGCAAGGTGTGGGTCGC	0.647000														29			17		0	0	0.000175454	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659412	176659412	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:176659412G>A	uc001gkz.3	+	4	3441	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	PAPPA2_uc001gky.1_Silent_p.K759K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	759					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCCCTGCAAGGAGACAGTGC	0.557000														53			35		0	0	0.000228196	0	0
CCDC64	92558	broad.mit.edu	37	12	120436384	120436384	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:120436384G>A	uc001txl.1	+	1	514	c.489G>A	c.(487-489)tgG>tgA	p.W163*	CCDC64_uc001txk.2_Nonsense_Mutation_p.W163*|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	163					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding	p.E162D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGGGAGTGGGAAGGCCGAG	0.463000														46			32		0	0	0.000814825	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887281	1887281	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:1887281G>A	uc001aim.1	-	17	2181	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	KIAA1751_uc009vkz.1_Silent_p.L675L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	675										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGTAGGTCAGGAGACTGCTCT	0.567000														23			25		0	0	0.000586117	0	0
BROX	148362	broad.mit.edu	37	1	222889067	222889067	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:222889067C>A	uc001hnq.1	+	1	421	c.26C>A	c.(25-27)cCa>cAa	p.P9Q	AIDA_uc001hno.3_5'Flank|AIDA_uc010pus.2_5'Flank|BROX_uc010put.1_Missense_Mutation_p.P9Q|BROX_uc010puu.1_Missense_Mutation_p.P9Q|BROX_uc010puv.1_Missense_Mutation_p.P9Q	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	9						membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						CATAGGAACCCATTAAAAGCC	0.303000														597			12		0.000422831	0.00640675	0.000422831	1	0
CPAMD8	27151	broad.mit.edu	37	19	17100518	17100518	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:17100518G>A	uc002nfb.3	-	12	1503	c.1471C>T	c.(1471-1473)Ctc>Ttc	p.L491F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	444						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCTGCCGAGGGAGAGGTAG	0.597000														24			28		0	0	0.000878237	0	0
NFATC2	4773	broad.mit.edu	37	20	50139794	50139794	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:50139794G>A	uc002xwd.3	-	1	1206	c.986C>T	c.(985-987)cCc>cTc	p.P329L	NFATC2_uc002xwc.3_Missense_Mutation_p.P329L|NFATC2_uc010zyv.2_Missense_Mutation_p.P110L|NFATC2_uc010zyw.2_Missense_Mutation_p.P110L|NFATC2_uc002xwe.3_Missense_Mutation_p.P309L|NFATC2_uc010zyx.2_Missense_Mutation_p.P309L|NFATC2_uc010zyy.2_Missense_Mutation_p.P110L|NFATC2_uc010zyz.2_Missense_Mutation_p.P110L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	329					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACCGGCGAGGGGTCAGGGCT	0.677000														32			22		0	0	0.000375601	0	0
ASIC4	55515	broad.mit.edu	37	2	220399909	220399909	+	Silent	SNP	C	T	T	rs148110150		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:220399909C>T	uc002vlz.3	+	5	1647	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G	ASIC4_uc002vma.3_Silent_p.G472G|ASIC4_uc002vmb.3_Silent_p.G145G	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	472						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGGGTGGGGGCCCTGAGGGCC	0.647000														33			14		0	0	0.000175454	0	0
OR5D18	219438	broad.mit.edu	37	11	55587727	55587727	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55587727G>A	uc010rin.2	+	0	622	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACCTTTAATGAAATCAGCAC	0.448000														33			26		0	0	0.000878237	0	0
NSDHL	50814	broad.mit.edu	37	X	152037407	152037408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:152037407_152037408CC>TT	uc004fgt.1	+	8	1130_1131	c.869_870CC>TT	c.(868-870)gcc>gTT	p.A290V	NSDHL_uc004fgs.1_Missense_Mutation_p.A290V	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	290					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.E289*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AATTATGAGGCCCCCAAGTACC	0.554000														331			75		0	0	6.4e-05	0	0
CORO2A	7464	broad.mit.edu	37	9	100892098	100892099	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:100892098_100892099GG>AA	uc004aym.3	-	7	1060_1061	c.944_945CC>TT	c.(943-945)tcc>tTT	p.S315F	CORO2A_uc004ayl.3_Missense_Mutation_p.S315F|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	315					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTGGGTTATAGGAGCGGTACTC	0.579000														4			36		0	0	6.4e-05	0	0
GABBR1	2550	broad.mit.edu	37	6	29572298	29572298	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:29572298G>A	uc003nmt.4	-	21	3021	c.2685C>T	c.(2683-2685)aaC>aaT	p.N895N	GABBR1_uc003nmp.4_Silent_p.N778N|GABBR1_uc003nms.4_Silent_p.N778N|GABBR1_uc003nmu.4_Silent_p.N833N|GABBR1_uc011dlr.2_Silent_p.N718N	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	895	Interaction with ATF4 (By similarity).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCAGTTCACGGTTCTCCTTCT	0.577000														103			90		0	0	0.000781405	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000														32			29		0	0	0.000491102	0	0
SLC4A4	8671	broad.mit.edu	37	4	72263331	72263331	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:72263331C>T	uc010iic.3	+	6	885	c.768C>T	c.(766-768)tcC>tcT	p.S256S	SLC4A4_uc003hfy.3_Silent_p.S256S|SLC4A4_uc010iib.3_Silent_p.S256S|SLC4A4_uc003hfz.3_Silent_p.S256S|SLC4A4_uc003hgc.4_Silent_p.S212S|SLC4A4_uc003hga.2_Silent_p.S134S|SLC4A4_uc003hgb.3_Silent_p.S212S	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	256				S -> F (in Ref. 3; AAD42020).		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)			TGACTTCCTCCAGTCTGAATG	0.383000														36			27		0	0	0.000339439	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910948	101910948	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:101910948A>G	uc010nod.3	+	2	2749	c.2107A>G	c.(2107-2109)Att>Gtt	p.I703V	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.I703V|GPRASP1_uc004ejj.4_Missense_Mutation_p.I703V|GPRASP1_uc004eji.4_Missense_Mutation_p.I703V|GPRASP1_uc022cbd.1_Missense_Mutation_p.I703V	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	703	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAAGAGGACATTGTCAATTC	0.473000														91			257		0	0	0.000781405	0	0
IGSF9	57549	broad.mit.edu	37	1	159900130	159900130	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:159900130C>T	uc001fur.2	-	14	2111	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	IGSF9_uc001fuq.2_Missense_Mutation_p.G622E|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	638	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGAGTACCCCCCGGGGTGT	0.672000														51			54		0	0	0.000781405	0	0
ESR2	2100	broad.mit.edu	37	14	64727386	64727386	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:64727386C>T	uc001xha.1	-	4	1201	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	ESR2_uc001xgy.2_Missense_Mutation_p.A245T|ESR2_uc001xgu.3_Missense_Mutation_p.A245T|ESR2_uc001xgv.3_Missense_Mutation_p.A245T|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.A245T|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.A245T|ESR2_uc001xgz.2_Missense_Mutation_p.A245T|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	245	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTTCTCTTGGCCTTGCCGGCA	0.667000														25			20		0	0	0.000175454	0	0
FBN3	84467	broad.mit.edu	37	19	8165822	8165822	+	Silent	SNP	C	T	T	rs145943652	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:8165822C>T	uc002mjf.3	-	39	5141	c.5124G>A	c.(5122-5124)ccG>ccA	p.P1708P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1708						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1707T(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAGGAATCCCGGGGCCTGAT	0.622000														44			39		0	0	0.000319135	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927739	43927739	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43927739C>T	uc010yny.2	+	7	1725	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	PLEKHH2_uc002rte.3_Missense_Mutation_p.P548S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P547S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	548						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCACCGTTTTCCTTCTTGGGT	0.468000														225			194		0	0	0.000781405	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44429737	44429737	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:44429737G>A	uc002xpk.3	+	4	465	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	133						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTCAGATGGAGAAAAAGTAAT	0.463000														68			43		0	0	0.000781405	0	0
ZNF479	90827	broad.mit.edu	37	7	57187687	57187687	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:57187687T>C	uc010kzo.3	-	4	1706	c.1435A>G	c.(1435-1437)Acc>Gcc	p.T479A		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T479N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCATAAGGGTTGAGGAGCAA	0.403000														16			27		0	0	0.000184323	0	0
ZNF761	388561	broad.mit.edu	37	19	53958948	53958948	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:53958948C>T	uc010eqp.3	+	6	1645	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	ZNF761_uc010ydy.2_Missense_Mutation_p.S342F|ZNF761_uc002qbt.2_Missense_Mutation_p.S342F	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CACAAGTCATCCCTTACATGC	0.388000														90			70		0	0	0.000781405	0	0
GRHL2	79977	broad.mit.edu	37	8	102643864	102643864	+	Splice_Site	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:102643864G>A	uc010mbu.3	+	10	1588	c.1258_splice	c.e10-1	p.G420_splice		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	420						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTTCCTATCAGGGAGCAGAAA	0.433000														16			11		0	0	0.000673444	0	0
KCNA5	3741	broad.mit.edu	37	12	5154211	5154211	+	Missense_Mutation	SNP	G	A	A	rs148708451	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:5154211G>A	uc001qni.3	+	0	1127	c.898G>A	c.(898-900)Ggc>Agc	p.G300S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	300			G -> S (in a breast cancer sample; somatic mutation).			Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G300S(4)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGGGGCCAACGGCAGCGGGGT	0.706000														32			24		0	0	0.000375601	0	0
MMP19	4327	broad.mit.edu	37	12	56230895	56230896	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:56230895_56230896CC>TT	uc001sib.3	-	8	1572_1573	c.1451_1452GG>AA	c.(1450-1452)ggg>gAA	p.G484E	MMP19_uc001sia.3_Missense_Mutation_p.G198E|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	484					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GAGTGGTATTCCCACCTGATGG	0.505000														123			106		0	0	6.4e-05	0	0
ELOVL1	64834	broad.mit.edu	37	1	43829641	43829641	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:43829641G>A	uc001cjb.3	-	7	914	c.786C>T	c.(784-786)ccC>ccT	p.P262P	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Silent_p.P235P	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	262					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAGTGCACGGGGCAGCCGCT	0.517000														53			33		0	0	0.00111076	0	0
ZNF223	7766	broad.mit.edu	37	19	44564658	44564658	+	Silent	SNP	G	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:44564658G>T	uc002oyf.1	+	2	319	c.66G>T	c.(64-66)ctG>ctT	p.L22L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGGAGGAGCTGGGGCTGCTGG	0.517000														197			8		3.86212e-05	0.000588422	0.000673444	1	0
PEBP1	5037	broad.mit.edu	37	12	118582479	118582479	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:118582479C>T	uc001twu.1	+	3	580	c.435C>T	c.(433-435)caC>caT	p.H145H	PEBP1_uc010szc.1_Intron	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	145							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGAGACCACCGTGGCAAAT	0.592000														20			25		0	0	0.000720815	0	0
RERE	473	broad.mit.edu	37	1	8424277	8424277	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:8424277G>A	uc001ape.3	-	15	2389	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	RERE_uc001apf.3_Silent_p.L527L|RERE_uc010nzx.1_Silent_p.L259L|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	527					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTGCAAAGCAGGATGTTCTCC	0.582000														48			54		0	0	0.000781405	0	0
MRVI1	10335	broad.mit.edu	37	11	10647811	10647811	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:10647811G>A	uc010rcc.1	-	8	1456	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L	MRVI1_uc010rcb.1_Missense_Mutation_p.P349L|MRVI1_uc001miw.2_Missense_Mutation_p.P348L|MRVI1_uc001mix.3_Missense_Mutation_p.P42L|MRVI1_uc001miz.2_Missense_Mutation_p.P266L|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.P42L|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	330					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGGCTGGGGGACCCACTCC	0.697000														0			7		0	0	8.12818e-05	0	0
PRKACG	5568	broad.mit.edu	37	9	71628009	71628010	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:71628009_71628010CC>TT	uc004agy.3	-	0	1030_1031	c.999_1000GG>AA	c.(997-1002)gaggaa>gaAAaa	p.E334K		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	334	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGGAGCTCTTCCTCCTCGTAGT	0.500000														0			48		0	0	6.4e-05	0	0
IRS4	8471	broad.mit.edu	37	X	107976143	107976144	+	Missense_Mutation	DNP	CG	AT	AT	rs45602935		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107976143_107976144CG>AT	uc004eoc.2	-	0	3464_3465	c.3431_3432CG>AT	c.(3430-3432)ccg>cAT	p.P1144H		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1144	Ala-rich.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGCCGATGCCCGGGGCTGCGGC	0.649000														163			6		0	0	6.4e-05	0	0
GPR112	139378	broad.mit.edu	37	X	135430654	135430654	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:135430654C>T	uc004ezu.1	+	5	5080	c.4789C>T	c.(4789-4791)Ccc>Tcc	p.P1597S	GPR112_uc010nsb.1_Missense_Mutation_p.P1392S|GPR112_uc010nsc.1_Missense_Mutation_p.P1364S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1597					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTTACCCCCAGGACTAC	0.413000														23			9		0	0	0.000442599	0	0
FADS3	3995	broad.mit.edu	37	11	61643392	61643392	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:61643392G>A	uc001nsm.3	-	10	1370	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	406					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCACACAGCGACTTGACCAG	0.647000														43			38		0	0	0.000509022	0	0
PCLO	27445	broad.mit.edu	37	7	82784917	82784917	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82784917C>T	uc003uhx.2	-	1	1329	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	PCLO_uc003uhv.2_Missense_Mutation_p.G347E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	320	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G347G(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCACTGTCCCTGGTTGTTG	0.587000														14			16		0	0	0.000308642	0	0
RNF216	54476	broad.mit.edu	37	7	5662592	5662592	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:5662592G>A	uc003sox.2	-	16	2930	c.2671C>T	c.(2671-2673)Ctg>Ttg	p.L891L	RNF216_uc010ksz.2_Silent_p.L456L|RNF216_uc010kta.2_Silent_p.L456L|RNF216_uc003soy.2_Silent_p.L834L|RNF216_uc011jwj.2_Silent_p.L456L	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	834					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647000														55			55		0	0	0.000781405	0	0
FCRL6	343413	broad.mit.edu	37	1	159779306	159779306	+	Missense_Mutation	SNP	C	T	T	rs140713881		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:159779306C>T	uc001fud.4	+	4	761	c.719C>T	c.(718-720)tCc>tTc	p.S240F	FCRL6_uc001fuc.2_Missense_Mutation_p.S247F|FCRL6_uc009wsz.1_Missense_Mutation_p.S145F|FCRL6_uc009wta.3_Missense_Mutation_p.S240F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	240	Ig-like C2-type 3.					integral to membrane		p.S240F(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCCTGTATTCCTTCTACCTT	0.592000														23			32		0	0	0.000409698	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328250	62328250	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:62328250G>A	uc002yfy.3	+	4	758	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.G44R	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	44					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGCAGAGACAGGGGAGCGGCT	0.721000														12			9		0	0	0.000978159	0	0
ENAM	10117	broad.mit.edu	37	4	71508317	71508317	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:71508317C>T	uc011caw.1	+	8	1455	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	392					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGCAATTATCCCAATTATGC	0.473000														77			63		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181740488	181740488	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:181740488G>A	uc009wxt.3	+	35	5136	c.4941G>A	c.(4939-4941)cgG>cgA	p.R1647R	CACNA1E_uc001gow.3_Silent_p.R1647R|CACNA1E_uc009wxs.3_Silent_p.R1628R|CACNA1E_uc001gox.1_Silent_p.R873R|5S_rRNA_uc021pft.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1647					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAACTTCCGGAGTTTCTTTG	0.463000														9			4		0	0	0.000602214	0	0
GPR158	57512	broad.mit.edu	37	10	25464451	25464451	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:25464451C>T	uc001isj.3	+	0	162	c.102C>T	c.(100-102)tcC>tcT	p.S34S	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCCGGATTCCCCTCGAGAGA	0.687000														32			46		0	0	0.000781405	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717110	222717111	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:222717110_222717111CC>AA	uc001hnh.1	-	1	800_801	c.742_743GG>TT	c.(742-744)ggg>TTg	p.G248L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	248					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCGACTCCCATCAGGGAGG	0.604000														610			11		0	0	6.4e-05	0	0
BTBD9	114781	broad.mit.edu	37	6	38561824	38561825	+	Missense_Mutation	DNP	GG	TT	TT	rs139584819	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:38561824_38561825GG>TT	uc003ooa.4	-	3	1040_1041	c.464_465CC>AA	c.(463-465)ccc>cAA	p.P155Q	BTBD9_uc010jwv.3_Missense_Mutation_p.P96Q|BTBD9_uc003ony.4_Missense_Mutation_p.P87Q|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.P155Q	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	155	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AAGTTAACTTGGGAAGTGAGTA	0.421000														324			12		0	0	6.4e-05	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937210	4937210	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:4937210G>A	uc002gap.4	-	2	1287	c.574C>T	c.(574-576)Cct>Tct	p.P192S	SLC52A1_uc002gao.4_Missense_Mutation_p.P192S|SLC52A1_uc010ckw.3_Missense_Mutation_p.P70S|SLC52A1_uc010ckx.3_Missense_Mutation_p.P192S	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	192						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGCTGGCAGGAAAACGCTCA	0.627000														49			52		0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122003273	122003273	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:122003273C>T	uc003eew.4	+	6	2940	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	CASR_uc003eev.4_Silent_p.A824A	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	824					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATTCCAGCCTATGCCAGCA	0.512000														3			55		0	0	0.000781405	0	0
CPEB1	64506	broad.mit.edu	37	15	83224663	83224663	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:83224663G>A	uc002bit.3	-	4	1133	c.996C>T	c.(994-996)ccC>ccT	p.P332P	CPEB1_uc002bir.3_Silent_p.P197P|CPEB1_uc002bis.3_Silent_p.P197P|CPEB1_uc010uod.2_Silent_p.P46P|CPEB1_uc002biq.3_Silent_p.P197P|CPEB1_uc010uoe.2_Silent_p.P275P|CPEB1_uc002biu.3_Silent_p.P299P|CPEB1_uc010uof.2_Silent_p.P197P|CPEB1_uc002biv.3_Silent_p.P272P|CPEB1_uc002bip.3_Silent_p.P46P	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	272	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTATGCTGAAGGGGTCTTTGG	0.587000														25			26		0	0	0.000878237	0	0
PCDH15	65217	broad.mit.edu	37	10	55955511	55955511	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:55955511T>G	uc010qhy.1	-	11	1647	c.1252A>C	c.(1252-1254)Acc>Ccc	p.T418P	PCDH15_uc010qhq.2_Missense_Mutation_p.T418P|PCDH15_uc010qhr.2_Missense_Mutation_p.T413P|PCDH15_uc021pqv.1_Missense_Mutation_p.T413P|PCDH15_uc021pqw.1_Missense_Mutation_p.T418P|PCDH15_uc010qht.2_Missense_Mutation_p.T413P|PCDH15_uc021pqx.1_Missense_Mutation_p.T413P|PCDH15_uc001jjv.1_Missense_Mutation_p.T391P|PCDH15_uc021pqy.1_Missense_Mutation_p.T413P|PCDH15_uc021pqz.1_Missense_Mutation_p.T391P|PCDH15_uc010qhv.1_Missense_Mutation_p.T413P|PCDH15_uc010qhw.1_Missense_Mutation_p.T376P|PCDH15_uc010qhx.1_Missense_Mutation_p.T413P|PCDH15_uc010qhz.1_Missense_Mutation_p.T413P|PCDH15_uc010qia.1_Missense_Mutation_p.T391P|PCDH15_uc001jju.1_Missense_Mutation_p.T413P|PCDH15_uc010qib.1_Missense_Mutation_p.T391P|PCDH15_uc001jjw.3_Missense_Mutation_p.T413P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	413	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCGAAATGGTTGCTCCCACT	0.383000										HNSCC(58;0.16)				1			30		0	0	0.000279167	0	0
VPS72	6944	broad.mit.edu	37	1	151156834	151156835	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:151156834_151156835CG>AT	uc001exe.1	-	3	563_564	c.520_521CG>AT	c.(520-522)cgg>ATg	p.R174M	VPS72_uc001exf.1_Missense_Mutation_p.R174M	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	174					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGGCCTCCCGGAGCAGTTCC	0.545000														228			8		0	0	6.4e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:71218869C>T	uc002ezr.3	-	2	311	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E54K|HYDIN_uc010vmc.2_Missense_Mutation_p.E71K|HYDIN_uc010vmd.2_Missense_Mutation_p.E81K|HYDIN_uc002ezw.4_Missense_Mutation_p.E71K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	54								p.E54K(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGACATTTCCTTCAGGAAC	0.408000														2			10		0	0	0.000673444	0	0
BMP5	653	broad.mit.edu	37	6	55625297	55625297	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:55625297C>T	uc003pcq.3	-	4	1774	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	BMP5_uc011dxf.2_Silent_p.K354K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	354					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.K354K(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCGTGCTTCTTACAGGCTT	0.353000														11			8		0	0	0.000274275	0	0
RNF5	6048	broad.mit.edu	37	6	32147809	32147810	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:32147809_32147810CG>AT	uc003oaj.4	+	4	478_479	c.351_352CG>AT	c.(349-354)accggg>acATgg	p.G118W	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	118					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						TTGGTGATACCGGGGGCTTCCA	0.520000														600			9		0	0	6.4e-05	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355112	41355112	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:41355112C>T	uc003xnu.3	+	2	274	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	GOLGA7_uc022auf.1_Missense_Mutation_p.L66F|GOLGA7_uc003xnw.3_Missense_Mutation_p.L66F	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	Homo sapiens golgin A7 (GOLGA7), transcript variant 1, mRNA.	66						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CCAGTCATATCTCGAAGGTTG	0.383000														148			121		0	0	0.000781405	0	0
ZNF792	126375	broad.mit.edu	37	19	35450180	35450180	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:35450180G>A	uc002nxh.1	-	3	966	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGAAGCCTGGCCCTCCTCCG	0.547000														150			144		0	0	0.000781405	0	0
FAM47C	442444	broad.mit.edu	37	X	37028201	37028201	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:37028201A>G	uc004ddl.2	+	0	1770	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	573										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCCGCCCGGAGCCTCCCGAT	0.637000														61			53		0	0	0.000781405	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361117	70361117	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:70361117G>A	uc003hek.4	-	0	510	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	UGT2B4_uc011cap.2_Missense_Mutation_p.P19S|UGT2B4_uc003hel.4_Missense_Mutation_p.P155S	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	155					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCACCAAAGGGGAAAACAGCA	0.408000														14			10		0	0	0.000442599	0	0
CCNE1	898	broad.mit.edu	37	19	30313020	30313020	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:30313020T>C	uc002nsn.3	+	8	1006	c.823T>C	c.(823-825)Ttt>Ctt	p.F275L	CCNE1_uc002nso.3_Missense_Mutation_p.F260L	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	275					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCAGCAAATCTTTATACAGAT	0.498000			A		serous ovarian									41			33		0	0	0.000339439	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699690	75699690	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:75699690C>T	uc010oqz.1	-	10	1017	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SLC44A5_uc001dgt.2_Silent_p.V278V|SLC44A5_uc001dgs.2_Silent_p.V236V|SLC44A5_uc001dgr.2_Silent_p.V236V|SLC44A5_uc001dgu.3_Silent_p.V278V|SLC44A5_uc010ora.2_Silent_p.V272V|SLC44A5_uc010orb.2_Silent_p.V148V	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	278						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAATTCCAATCACACCAATCA	0.378000														0			14		0	0	0.000308642	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657021	46657021	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:46657021G>A	uc003bhh.3	-	0	2199	c.2199C>T	c.(2197-2199)ctC>ctT	p.L733L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	733	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTGTTTTCGGAGATTGACTC	0.393000														71			58		0	0	0.000781405	0	0
ZNF142	7701	broad.mit.edu	37	2	219507627	219507627	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:219507627G>A	uc002vin.3	-	7	4048	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	ZNF142_uc002vil.3_Silent_p.F1165F|ZNF142_uc010fvt.3_Silent_p.F1041F|ZNF142_uc002vim.3_Silent_p.F1041F	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAAGTCACAGAAGGGGCACT	0.607000														34			33		0	0	0.00058488	0	0
KLRD1	3824	broad.mit.edu	37	12	10462030	10462030	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:10462030G>A	uc009zhi.3	+	1	311	c.51G>A	c.(49-51)ggG>ggA	p.G17G	KLRD1_uc001qxw.4_Silent_p.G17G|KLRD1_uc001qxx.4_Silent_p.G17G|KLRD1_uc001qxy.4_Intron|KLRD1_uc009zhh.3_Silent_p.G17G|KLRD1_uc001qxz.4_Silent_p.G17G			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	17					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GGACCTTAGGGATAATATGCC	0.373000														73			44		0	0	0.000781405	0	0
MRPL52	122704	broad.mit.edu	37	14	23299432	23299432	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:23299432C>T	uc001wgw.4	+	2	156	c.126C>T	c.(124-126)ccC>ccT	p.P42P	MRPL52_uc001wgx.4_Silent_p.P41P|MRPL52_uc001wgy.4_5'UTR|MRPL52_uc001wgz.4_5'UTR|MRPL52_uc001wha.4_5'UTR|MRPL52_uc001whb.4_Silent_p.P42P	NM_178336	NP_851823	Q86TS9	RM52_HUMAN	Homo sapiens mitochondrial ribosomal protein L52 (MRPL52), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCTACGGGCCCCTTACCGAGC	0.607000														68			50		0	0	0.000781405	0	0
PRDM11	56981	broad.mit.edu	37	11	45245971	45245971	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:45245971G>A	uc001myo.3	+	7	1297	c.1048G>A	c.(1048-1050)Gcg>Acg	p.A350T		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	350										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ACTGGAATCTGCGAAGGTGGA	0.507000														4			88		0	0	0.000781405	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064071	79064071	+	Silent	SNP	C	G	G	rs149694045	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:79064071C>G	uc002bej.4	-	14	2443	c.2232G>C	c.(2230-2232)ccG>ccC	p.P744P	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.P744P	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	744	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGTACTTCTCCGGGTCCTCGC	0.627000														15			30		0	0	0.000491102	0	0
EP400	57634	broad.mit.edu	37	12	132466717	132466717	+	Silent	SNP	G	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:132466717G>C	uc001ujn.3	+	4	1775	c.1623G>C	c.(1621-1623)ggG>ggC	p.G541G	EP400_uc021rgq.1_Silent_p.G540G|EP400_uc001ujm.3_Silent_p.G541G|EP400_uc001ujj.2_Silent_p.G504G|EP400_uc001ujk.3_Silent_p.G577G	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	577					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)		CCTCCACGGGGCCTCCCGTGC	0.677000														52			57		0	0	0.000781405	0	0
OR5D14	219436	broad.mit.edu	37	11	55563092	55563092	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55563092G>A	uc010rim.2	+	0	61	c.61G>A	c.(61-63)Gat>Aat	p.D21N		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGGTTTCACAGATTACCCAAA	0.393000														21			22		0	0	0.000295444	0	0
MECR	51102	broad.mit.edu	37	1	29542534	29542534	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:29542534G>A	uc001brq.1	-	2	425	c.389C>T	c.(388-390)cCa>cTa	p.P130L	MECR_uc001brp.1_Missense_Mutation_p.P54L|MECR_uc001brt.1_Missense_Mutation_p.P54L|MECR_uc010ofz.1_Missense_Mutation_p.P130L	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AGCATTTGCTGGAATCACCCA	0.547000														43			44		0	0	0.000680045	0	0
DNAH2	146754	broad.mit.edu	37	17	7680863	7680864	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7680863_7680864CG>AT	uc002giu.1	+	31	5172_5173	c.5158_5159CG>AT	c.(5158-5160)cgg>ATg	p.R1720M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1720	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)				AATTCATGCCCGGGATGTGTTG	0.485000														505			9		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179634464	179634464	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179634464C>T	uc021vsy.1	-	36	9069	c.8844G>A	c.(8842-8844)tcG>tcA	p.S2948S	TTN_uc021vsz.1_Silent_p.S2902S|TTN_uc021vta.1_Silent_p.S2902S|TTN_uc021vtb.1_Silent_p.S2902S|TTN_uc002unb.2_Silent_p.S2948S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2948	Ig-like 16.						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)			TGTATTCTGCCGAGTCCTCTG	0.388000														60			44		0	0	0.000680045	0	0
EPPK1	83481	broad.mit.edu	37	8	144940278	144940278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:144940278C>T	uc003zaa.1	-	0	7157	c.7144G>A	c.(7144-7146)Gac>Aac	p.D2382N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2382						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)			CCCTTGGTGTCGTCGCTGGGG	0.657000														391			21		0	0	0.000878237	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085370	3085370	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:3085370C>T	uc002ctf.4	-	0	173	c.128G>A	c.(127-129)gGg>gAg	p.G43E	CCDC64B_uc002cte.4_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	43										breast(1)|endometrium(2)|large_intestine(1)	4						CTCCTCAGGCCCTGGGCCCCC	0.667000														2			4		0	0	0.00024832	0	0
LCK	3932	broad.mit.edu	37	1	32745524	32745525	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32745524_32745525CC>TT	uc001bux.3	+	10	1262_1263	c.1124_1125CC>TT	c.(1123-1125)acc>aTT	p.T375I	LCK_uc001buy.3_Missense_Mutation_p.T375I|LCK_uc001buz.3_Missense_Mutation_p.T405I|LCK_uc010ohc.1_Missense_Mutation_p.T419I|LCK_uc001bva.3_Missense_Mutation_p.T382I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	375	Protein kinase.			T -> A (in Ref. 14; CAA28165).	T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GTGTCTGACACCCTGAGCTGCA	0.520000			T	TRB@	T-ALL									52			43		0	0	6.4e-05	0	0
IREB2	3658	broad.mit.edu	37	15	78757601	78757601	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:78757601C>T	uc002bdr.2	+	3	443	c.281C>T	c.(280-282)cCa>cTa	p.P94L	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.P94L	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	94							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGGAATACCAGCAATGGTG	0.338000														25			21		0	0	0.000295444	0	0
FCAR	2204	broad.mit.edu	37	19	55396921	55396921	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:55396921G>A	uc002qhr.1	+	2	542	c.345G>A	c.(343-345)ctG>ctA	p.L115L	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.L115L|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L88L|FCAR_uc010esi.1_Silent_p.L88L|FCAR_uc002qhu.1_Silent_p.L115L|FCAR_uc002qhv.1_Silent_p.L115L|FCAR_uc002qhw.1_Silent_p.L103L|FCAR_uc002qhx.1_Silent_p.L103L|FCAR_uc002qhy.1_Silent_p.L103L|FCAR_uc002qhz.1_Silent_p.L103L|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	115					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGACACCCTGGAGCTGGTAG	0.438000														25			34		0	0	0.000692331	0	0
KIF2B	84643	broad.mit.edu	37	17	51901110	51901110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:51901110C>T	uc002iua.2	+	0	872	c.716C>T	c.(715-717)cCc>cTc	p.P239L	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	239	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V238V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCACCGTCCCCTCGGACAAT	0.557000														2			16		0	0	0.000566183	0	0
SF3A1	10291	broad.mit.edu	37	22	30735145	30735145	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:30735145C>T	uc003ahl.3	-	9	1603	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	SF3A1_uc021wnt.1_Missense_Mutation_p.E426K	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	491					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGGATCTCCTCCTCACCGATC	0.512000														92			75		0	0	0.000781405	0	0
CDSN	1041	broad.mit.edu	37	6	31084135	31084135	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31084135G>A	uc003nsm.2	-	1	1313	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	419	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGGGGCTCTGGGAAGCACTGC	0.602000														11			9		0	0	0.000274275	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043726	26043727	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:26043726_26043727CG>AT	uc003nfu.3	-	0	159_160	c.159_160CG>AT	c.(157-162)accggc>acATgc	p.G54C	HIST1H3C_uc003nfv.3_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA.	54					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGAGATGCCGGTGTCGGGGT	0.545000														237			7		0	0	6.4e-05	0	0
FAM47B	170062	broad.mit.edu	37	X	34962808	34962808	+	Silent	SNP	T	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:34962808T>G	uc004ddi.2	+	0	1896	c.1860T>G	c.(1858-1860)tcT>tcG	p.S620S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	620										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTTACGACTCTGTTAAGACTC	0.403000														116			119		0	0	0.000781405	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349734	36349734	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36349734G>A	uc002ocb.4	+	3	702	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	KIRREL2_uc002obz.4_Missense_Mutation_p.G164R|KIRREL2_uc002oca.4_Missense_Mutation_p.G114R|KIRREL2_uc002ocd.4_Missense_Mutation_p.G161R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	164	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCGAGATGGGGTCCTGTT	0.582000														38			32		0	0	0.000409698	0	0
NCLN	56926	broad.mit.edu	37	19	3205998	3205998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:3205998C>T	uc002lxi.3	+	9	1424	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.3_Nonsense_Mutation_p.R69*	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	424					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCTGACTCGAGTCATCTA	0.592000														88			73		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13781030	13781030	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:13781030G>A	uc003jfd.2	-	52	8901	c.8859C>T	c.(8857-8859)ctC>ctT	p.L2953L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2953	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCGACCAGGAGGGCATTTC	0.458000									Kartagener syndrome					2			10		0	0	0.000442599	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:37907434G>A	uc003tfn.3	+	10	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	251	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000														14			14		0	0	0.000151284	0	0
OGT	8473	broad.mit.edu	37	X	70787861	70787861	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70787861G>A	uc004eaa.2	+	20	3099	c.2861G>A	c.(2860-2862)cGa>cAa	p.R954Q	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R944Q|OGT_uc004eac.3_Missense_Mutation_p.R815Q|OGT_uc004ead.3_Missense_Mutation_p.R573Q	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	954					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGCTTCTCGAGTTGCAGCA	0.403000														300			81		0	0	0.000781405	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413944	22413944	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:22413944C>T	uc001yuf.3	+	0	483	c.243C>T	c.(241-243)gtC>gtT	p.V81V	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCCAGGTGGTCCTCATCATCC	0.507000														198			35		0	0	0.00058488	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115750	42115750	+	Missense_Mutation	SNP	C	T	T	rs148608964	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:42115750C>T	uc001zok.4	+	29	4008	c.3722C>T	c.(3721-3723)cCg>cTg	p.P1241L	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Missense_Mutation_p.P1074L|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P1235L|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P742L|MAPKBP1_uc010bck.3_Missense_Mutation_p.P452L|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P742L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1241										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GATGGCCGTCCGTCTCGGCCT	0.622000														21			29		0	0	0.000409698	0	0
KIF1A	547	broad.mit.edu	37	2	241660412	241660412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241660412G>A	uc010fzk.3	-	44	5034	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F	KIF1A_uc002vzy.3_Missense_Mutation_p.S1495F|KIF1A_uc002vzw.3_Missense_Mutation_p.S156F|KIF1A_uc002vzx.3_Missense_Mutation_p.S222F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1495	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCTAGAGGGGACATCGACGG	0.647000														13			9		0	0	0.000442599	0	0
GPHN	10243	broad.mit.edu	37	14	67589024	67589024	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:67589024C>T	uc001xiy.3	+	15	2700	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	GPHN_uc001xix.3_Missense_Mutation_p.R560C|GPHN_uc010tss.2_Missense_Mutation_p.R573C|GPHN_uc010tst.2_Missense_Mutation_p.R496C|GPHN_uc010tsu.2_Missense_Mutation_p.R450C	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	527	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.R560C(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGACAGCAATCGTTCAACTCT	0.388000			T	MLL	AL									32			31		0	0	0.000184323	0	0
AMOT	154796	broad.mit.edu	37	X	112033944	112033944	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:112033944G>A	uc004epr.3	-	6	2011	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	AMOT_uc004eps.3_Missense_Mutation_p.R256W	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	665					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTTTCTCCCGAAGGAGCTCC	0.498000														236			60		0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79399090	79399090	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:79399090G>A	uc003hlb.2	+	54	8413	c.7973G>A	c.(7972-7974)gGg>gAg	p.G2658E		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2653	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCCTGTTAGGGGAATTCACC	0.468000														6			6		0	0	8.12818e-05	0	0
C15orf23	90417	broad.mit.edu	37	15	40675139	40675139	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:40675139C>T	uc001zll.3	+	0	218	c.103C>T	c.(103-105)Cta>Tta	p.L35L	C15orf23_uc001zlo.3_Silent_p.L35L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.L35L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	35						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCGGAAGTTTCTATTTGAAAC	0.602000														54			36		0	0	0.000319135	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833895	2833895	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:2833895G>A	uc003mub.3	-	6	1131	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W		NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	363					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GAATTATGCCGAATAAAGAAA	0.443000														26			19		0	0	0.000175454	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724746	38724746	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:38724746C>T	uc001wum.1	-	0	829	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	161	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGGTGGCATCGCATCTCCTT	0.682000														23			26		0	0	0.000227799	0	0
SMG6	23293	broad.mit.edu	37	17	2203327	2203328	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:2203327_2203328GG>AA	uc002fub.1	-	1	774_775	c.719_720CC>TT	c.(718-720)tcc>tTT	p.S240F	SMG6_uc002fud.2_Missense_Mutation_p.S209F	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	240	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGCGCTTTGCGGAGCCCGGCCT	0.629000														49			47		0	0	6.4e-05	0	0
FCHSD2	9873	broad.mit.edu	37	11	72579046	72579047	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:72579046_72579047CG>AT	uc009ytl.3	-	12	1392_1393	c.1171_1172CG>AT	c.(1171-1173)cgg>ATg	p.R391M	FCHSD2_uc010rrg.2_Missense_Mutation_p.R255M|FCHSD2_uc001oth.4_Missense_Mutation_p.R335M|FCHSD2_uc001oti.2_Missense_Mutation_p.R350M	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	391							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CAGGTCCAACCGGGCTTCAGCT	0.416000														503			10		0	0	6.4e-05	0	0
INSIG2	51141	broad.mit.edu	37	2	118864324	118864324	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:118864324C>T	uc002tlk.3	+	3	587	c.381C>T	c.(379-381)ttC>ttT	p.F127F	INSIG2_uc010yye.2_Silent_p.F19F|INSIG2_uc002tll.3_Silent_p.F19F	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	Homo sapiens insulin induced gene 2 (INSIG2), mRNA.	127					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGTGGATTTCGATAACAACA	0.378000														25			23		0	0	0.000295444	0	0
PCDHB9	56127	broad.mit.edu	37	5	140566947	140566947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140566947C>T	uc003liw.1	+	0	55	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	19					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCTTTTTCTTTTCTGGGG	0.478000														2			75		0	0	0.000781405	0	0
MPDZ	8777	broad.mit.edu	37	9	13110635	13110635	+	Splice_Site	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:13110635C>T	uc010mhy.3	-	42	5799	c.5742_splice	c.e42+1	p.Q1914_splice	MPDZ_uc003zkx.4_Splice_Site_p.Q138_splice|MPDZ_uc003zky.4_Splice_Site_p.Q477_splice|MPDZ_uc010mib.3_Splice_Site_p.Q648_splice|MPDZ_uc010mhx.3_Splice_Site_p.Q765_splice|MPDZ_uc011lmm.2_Splice_Site_p.Q802_splice|MPDZ_uc003zkz.4_Splice_Site_p.Q636_splice|MPDZ_uc010mhz.3_Splice_Site_p.Q1910_splice|MPDZ_uc011lmn.2_Splice_Site_p.Q1881_splice|MPDZ_uc003zlb.4_Splice_Site_p.Q1914_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1943	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAAATCTTACCTGCATTTCAA	0.398000														13			8		0	0	0.000673444	0	0
ZNF48	197407	broad.mit.edu	37	16	30409370	30409370	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30409370G>A	uc002dya.2	+	1	1175	c.799G>A	c.(799-801)Gga>Aga	p.G267R	ZNF48_uc021tgi.1_Missense_Mutation_p.G267R|ZNF48_uc021tgj.1_Missense_Mutation_p.G144R|ZNF48_uc021tgk.1_Missense_Mutation_p.G267R	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGCTACCCAGGGACCGAAGGC	0.662000														13			24		0	0	0.000720815	0	0
CLRN2	645104	broad.mit.edu	37	4	17524612	17524612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:17524612C>T	uc003gpg.1	+	1	481	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	127						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATCCAGGTCCCGTACCGGGC	0.547000														40			26		0	0	0.000720815	0	0
PLIN4	729359	broad.mit.edu	37	19	4511665	4511666	+	Missense_Mutation	DNP	CC	TT	TT	rs71263980		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:4511665_4511666CC>TT	uc002mar.1	-	2	2264_2265	c.2264_2265GG>AA	c.(2263-2265)ggg>gAA	p.G755E	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	755	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						CCCCTGTGAGCCCAGTGGACAC	0.584000														56			26		0	0	6.4e-05	0	0
MLXIP	22877	broad.mit.edu	37	12	122618089	122618089	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:122618089C>T	uc001ubq.3	+	8	1395	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	MLXIP_uc001ubr.3_Silent_p.L180L|MLXIP_uc001ubs.1_Silent_p.L36L|MLXIP_uc001ubt.3_Silent_p.L36L	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	429	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCCCTTCCTCCCTGTCTTCA	0.652000														6			4		0	0	0.000602214	0	0
MSN	4478	broad.mit.edu	37	X	64957167	64957167	+	Silent	SNP	C	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64957167C>G	uc004dwf.3	+	9	1416	c.1218C>G	c.(1216-1218)gcC>gcG	p.A406A		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	406					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TGCTGCAGGCCTCCCGGGACC	0.542000			T	ALK	ALCL									41			10		0	0	0.000442599	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773753	25773753	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:25773753G>A	uc003nfe.3	+	7	957	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.G41S|SLC17A4_uc003nfg.3_Missense_Mutation_p.G217S|SLC17A4_uc010jqa.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	280					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGTTCACCAGGCTGGTCTCT	0.453000														11			10		0	0	0.000978159	0	0
MAG	4099	broad.mit.edu	37	19	35793567	35793567	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:35793567A>G	uc002nyy.2	+	6	1385	c.1187A>G	c.(1186-1188)aAc>aGc	p.N396S	MAG_uc002nyx.2_Missense_Mutation_p.N396S|MAG_uc010eds.2_Missense_Mutation_p.N371S|MAG_uc002nyz.2_Missense_Mutation_p.N396S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	396	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGGCTGAGAACCAGTATGGC	0.612000														32			36		0	0	0.000228196	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960162	117960162	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:117960162C>T	uc004equ.3	+	3	1428	c.955C>T	c.(955-957)Cct>Tct	p.P319S	ZCCHC12_uc022cdh.1_Missense_Mutation_p.P319S	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGCTCAGTTTCCTTCCACCAG	0.547000														269			67		0	0	0.000781405	0	0
KHDC1	80759	broad.mit.edu	37	6	73919712	73919712	+	RNA	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:73919712G>A	uc011dyl.1	-	7		c.1381C>T						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TCTTCCATGTGAAACACCATT	0.498000														14			21		0	0	0.00047179	0	0
SACS	26278	broad.mit.edu	37	13	23908832	23908832	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:23908832G>A	uc001uon.2	-	9	9772	c.9183C>T	c.(9181-9183)ctC>ctT	p.L3061L	SACS_uc001uoo.2_Silent_p.L2914L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3061					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			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)		TTTCTAAAAGGAGATGTTTCA	0.343000														33			20		0	0	0.000229342	0	0
PPP3CC	5533	broad.mit.edu	37	8	22355571	22355571	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:22355571C>T	uc011kzi.2	+	3	870	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PPP3CC_uc003xbr.2_Missense_Mutation_p.R144W|PPP3CC_uc003xbs.3_Missense_Mutation_p.R144W|PPP3CC_uc003xbt.3_Missense_Mutation_p.R144W	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	144					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTTTCTGCTTCGGGGAAATCA	0.343000														45			35		0	0	0.000781405	0	0
MYL6	4637	broad.mit.edu	37	12	56552250	56552250	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:56552250G>A	uc010sqd.2	+	0	105	c.65G>A	c.(64-66)gGg>gAg	p.G22E	MYL6_uc001sjw.2_Intron|MYL6_uc001sjx.2_Intron|MYL6_uc010sqe.2_Intron	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGACGGGTGGGGGGCGAGGA	0.637000														13			18		0	0	0.00074312	0	0
PCSK6	5046	broad.mit.edu	37	15	101983852	101983852	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:101983852T>C	uc002bxa.2	-	2	622	c.308A>G	c.(307-309)gAa>gGa	p.E103G	PCSK6_uc010bpd.3_5'UTR|PCSK6_uc002bwy.3_Missense_Mutation_p.E103G|PCSK6_uc010bpe.3_Missense_Mutation_p.E100G|PCSK6_uc002bxb.2_Missense_Mutation_p.E103G|PCSK6_uc002bxc.1_Missense_Mutation_p.E103G|PCSK6_uc002bxd.1_Missense_Mutation_p.E103G|PCSK6_uc002bxe.3_Missense_Mutation_p.E103G|PCSK6_uc002bxg.1_Missense_Mutation_p.E103G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	104					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTAGTAATCTTCCAGGTTTCC	0.438000														78			68		0	0	0.000781405	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454754	84454754	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:84454754C>T	uc001vlk.3	-	0	1775	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	297						integral to membrane		p.E296D(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGGCATGATCCTCTTGCCCA	0.557000														0			25		0	0	0.000720815	0	0
TRIM15	89870	broad.mit.edu	37	6	30138389	30138389	+	Silent	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:30138389C>T	uc010jrx.3	+	4	1322	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	281	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGAGGATGTTCTCAGGTAAAG	0.517000														39			38		0	0	0.000814825	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911287	100911287	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:100911287G>A	uc010nnt.2	-	4	2097	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	ARMCX2_uc004eid.2_Missense_Mutation_p.L430F|ARMCX2_uc004eie.3_Missense_Mutation_p.L430F|ARMCX2_uc004eif.3_Missense_Mutation_p.L430F|ARMCX2_uc004eig.3_Missense_Mutation_p.L430F|ARMCX2_uc022caq.1_Missense_Mutation_p.L430F	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	430						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATAATTGGGAGGCCTCCCAAT	0.398000														260			69		0	0	0.000781405	0	0
ATP7B	540	broad.mit.edu	37	13	52515323	52515323	+	Silent	SNP	G	A	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:52515323G>A	uc001vfw.2	-	15	3607	c.3450C>T	c.(3448-3450)aaC>aaT	p.N1150N	ATP7B_uc001vfy.2_Silent_p.N1039N|ATP7B_uc010adv.2_Silent_p.N720N|ATP7B_uc001vfx.2_Silent_p.N943N|ATP7B_uc010tgt.1_Silent_p.N1085N|ATP7B_uc010tgu.1_Silent_p.N1102N|ATP7B_uc010tgv.1_Silent_p.N1072N|ATP7B_uc001vfv.2_Silent_p.N422N|ATP7B_uc010tgs.1_Silent_p.N361N	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1150					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCCACTCACGGTTTCCAATCA	0.473000									Wilson disease					51			43		0	0	0.000509022	0	0
MSR1	4481	broad.mit.edu	37	8	16021634	16021634	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:16021634C>T	uc010lsu.3	-	4	875	c.811G>A	c.(811-813)Gat>Aat	p.D271N	MSR1_uc003wwz.3_Missense_Mutation_p.D253N|MSR1_uc003wxa.3_Missense_Mutation_p.D253N|MSR1_uc003wxb.3_Missense_Mutation_p.D253N|MSR1_uc011kxz.2_Missense_Mutation_p.D27N	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	253					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.L270F(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTCTGAGATCATTAGTGATG	0.318000														21			19		0	0	0.000958276	0	0
CETN2	1069	broad.mit.edu	37	X	151998261	151998261	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:151998261C>T	uc004fgq.3	-	1	94	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	16	Required for self-assembly.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CATTCTTTTTCGCTGAGAACT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)						203			63		0	0	0.000781405	0	0
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:74300557_74300564delAGAGCTCC	uc022afy.1	-	2	316_323	c.243_250delGGAGCTCT	c.(241-252)ctggagctcttcfs	p.L81fs	STAG3L2_uc011kfj.2_Non-coding_Transcript|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	81	SCD.					nucleus	binding	p.E82fs*32(4)|p.R80C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													---	4	---	---	2	---					
SNAPC4	6621	broad.mit.edu	37	9	139277919	139277919	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:139277919delC	uc004chh.3	-	14	1711	c.1702delG	c.(1702-1704)gacfs	p.D568fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	568					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGTCCATGTCCGGGACCATG	0.701													---	4	---	---	2	---					
TRPT1	83707	broad.mit.edu	37	11	63993265	63993265	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:63993265delC	uc010rnd.2	-	1	282	c.68delG	c.(67-69)cgafs	p.R23fs	TRPT1_uc010rnc.2_Frame_Shift_Del_p.R23fs|TRPT1_uc001nyo.3_Frame_Shift_Del_p.R23fs|TRPT1_uc010rnf.2_Frame_Shift_Del_p.R23fs|TRPT1_uc010rne.2_Frame_Shift_Del_p.R23fs|TRPT1_uc001nyn.3_Intron|NUDT22_uc009ypd.3_5'Flank|NUDT22_uc001nyp.4_5'Flank|NUDT22_uc009ype.3_5'Flank|NUDT22_uc001nyq.4_5'Flank|NUDT22_uc010rng.2_5'Flank	NM_001160389	NP_001153861	Q86TN4	TRPT1_HUMAN	Homo sapiens tRNA phosphotransferase 1 (TRPT1), transcript variant 3, mRNA.	23							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						CACCTGTTCTCGGGGTCTGGG	0.657													---	4	---	---	2	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	7	---	---	4	---					
TMEM5	10329	broad.mit.edu	37	12	64202671	64202676	+	In_Frame_Del	DEL	GTCCAT	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:64202671_64202676delGTCCAT	uc001srq.1	+	5	1235_1240	c.1131_1136delGTCCAT	c.(1129-1137)aagtccatg>aag	p.SM378del	TMEM5_uc001srs.1_In_Frame_Del_p.SM118del	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	378						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGTTACTCAAGTCCATGGGTGCTCCC	0.427													---	51	---	---	42	---					
BLM	641	broad.mit.edu	37	15	91304286	91304288	+	In_Frame_Del	DEL	TGA	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:91304286_91304288delTGA	uc002bpr.3	+	6	1780_1782	c.1683_1685delTGA	c.(1681-1686)tttgat>ttt	p.D566del	BLM_uc010uqh.2_In_Frame_Del_p.D566del|BLM_uc010uqi.2_In_Frame_Del_p.D191del|BLM_uc010bnx.3_In_Frame_Del_p.D566del	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	566	Poly-Asp.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGATGACTTTGATGATGATGAT	0.374			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				---	807	---	---	8	---					
SALL3	27164	broad.mit.edu	37	18	76753035	76753035	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:76753035delG	uc002lmt.3	+	1	1044	c.1044delG	c.(1042-1044)ccgfs	p.P348fs	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	348					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)		CCCTGGCCCCGGGGTCCCTGC	0.771													---	4	---	---	2	---					
STRN4	29888	broad.mit.edu	37	19	47234012	47234013	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:47234012_47234013insCA	uc002pfm.3	-	5	888_889	c.855_856insTG	c.(853-858)gtgcagfs	p.V285fs	STRN4_uc002pfl.3_Frame_Shift_Ins_p.V285fs|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	285						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTCTTGTGCTGCACGCTGTCCA	0.629													---	48	---	---	43	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	33	---	---	10	---