Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HAO1	54363	broad.mit.edu	37	20	7866489	7866489	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:7866489A>G	ENST00000378789.3	-	6	887	c.836T>C	c.(835-837)gTg>gCg	p.V279A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	279	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACAGCCTCCACAATTTCTGG	0.473000													17	93					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56489306	56489306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:56489306G>A	ENST00000518935.1	-	22	3411	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370765.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron			Q03001	DYST_HUMAN	dystonin	1443					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTACAGGGTGCTCACTG	0.393000													5	36					0	0	0.000602	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778703	14778703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:14778703A>T	ENST00000261170.3	-	21	2532	c.2396T>A	c.(2395-2397)aTg>aAg	p.M799K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	799					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGGAAGCAACATAAAGTTAAG	0.433000													25	101					0	0	0.003954	0	0
RDH8	50700	broad.mit.edu	37	19	10124205	10124205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:10124205C>A	ENST00000591589.1	+	1	281	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	RDH8_ENST00000171214.1_Missense_Mutation_p.S11Y			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	11					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGTTGATCTCCGGCTGCTCA	0.607000													9	47					1.12685e-05	1.61916e-05	0.004482	1	0
NOS1	4842	broad.mit.edu	37	12	117710192	117710192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:117710192C>A	ENST00000317775.6	-	10	2522	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.E613*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	613					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCTTACCTCCAGGATATTG	0.597000													9	45					1.76689e-08	2.87363e-08	0.006214	1	0
HRNR	388697	broad.mit.edu	37	1	152191497	152191497	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:152191497G>T	ENST00000368801.2	-	3	2683	c.2608C>A	c.(2608-2610)Cat>Aat	p.H870N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	870					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGACTCATGCTGACCATAG	0.607000													14	76					0.000151284	0.000206044	0.001855	1	0
C9orf131	138724	broad.mit.edu	37	9	35044909	35044909	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:35044909C>A	ENST00000312292.5	+	2	2330	c.2283C>A	c.(2281-2283)gcC>gcA	p.A761A	C9orf131_ENST00000421362.2_Silent_p.A713A|C9orf131_ENST00000354479.5_Silent_p.A688A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	761										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGCAGAGGCCCCACTCTCCC	0.572000													30	89					1.74807e-11	3.15505e-11	0.002096	1	0
PKD2	5311	broad.mit.edu	37	4	88959424	88959424	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:88959424G>C	ENST00000237596.2	+	4	931	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	289						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTCCTTATTGGATGGGCTGTA	0.488000													15	95					0	0	0.003163	0	0
GABRA1	2554	broad.mit.edu	37	5	161318041	161318041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:161318041G>T	ENST00000428797.2	+	9	1196	c.841G>T	c.(841-843)Gca>Tca	p.A281S	GABRA1_ENST00000023897.6_Missense_Mutation_p.A281S|GABRA1_ENST00000444819.1_Missense_Mutation_p.A281S|GABRA1_ENST00000393943.4_Missense_Mutation_p.A281S|GABRA1_ENST00000437025.2_Missense_Mutation_p.A281S|GABRA1_ENST00000420560.1_Missense_Mutation_p.A281S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	281					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTCTGTACCAGCAAGAACTGT	0.403000													8	61					0.00448238	0.00565391	0.004482	1	0
CPEB1	64506	broad.mit.edu	37	15	83226530	83226530	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:83226530C>G	ENST00000563800.1	-	4	2392	c.667G>C	c.(667-669)Gat>Cat	p.D223H	CPEB1_ENST00000398591.2_Missense_Mutation_p.D121H|CPEB1_ENST00000423133.2_Missense_Mutation_p.D121H|CPEB1_ENST00000261723.6_Missense_Mutation_p.D199H|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.D196H|CPEB1_ENST00000564522.1_Missense_Mutation_p.D121H|CPEB1_ENST00000562019.1_Missense_Mutation_p.D196H|CPEB1_ENST00000450751.2_Missense_Mutation_p.D121H|CPEB1_ENST00000568757.1_Missense_Mutation_p.D121H|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	196					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA 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)			GAGAGATGATCTGATCCAGAG	0.522000													5	54					0	0	0.000602	0	0
CRISP3	10321	broad.mit.edu	37	6	49698878	49698878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:49698878C>A	ENST00000433368.2	-	7	746	c.677G>T	c.(676-678)tGc>tTc	p.C226F	CRISP3_ENST00000393666.1_Missense_Mutation_p.C203F|CRISP3_ENST00000371159.4_Missense_Mutation_p.C234F|CRISP3_ENST00000263045.4_Missense_Mutation_p.C216F|CRISP3_ENST00000423399.2_Missense_Mutation_p.C113F	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	203					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAACTTACTGCATAGTCCATC	0.358000													9	64					2.74318e-10	4.73919e-10	0.006214	1	0
ZNF813	126017	broad.mit.edu	37	19	53994790	53994790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:53994790G>T	ENST00000396403.4	+	4	1432	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTCATAGTGGAGAGAAACCC	0.403000													8	53					1.12685e-05	1.61916e-05	0.004482	1	0
WNK3	65267	broad.mit.edu	37	X	54328226	54328226	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:54328226T>C	ENST00000354646.2	-	6	1594	c.1156A>G	c.(1156-1158)Att>Gtt	p.I386V	WNK3_ENST00000375169.3_Missense_Mutation_p.I386V|WNK3_ENST00000375159.2_Missense_Mutation_p.I386V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	386	Protein kinase.				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						TTTTGACGAATACATCCTTCA	0.363000													6	39					0	0	0.001984	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794130	101794130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:101794130G>T	ENST00000506729.1	-	6	1258	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L301M|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L363M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	363						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAAGTTTCAGATCTTTAAGT	0.299000													10	82					3.07112e-06	4.54525e-06	0.000978	1	0
LGALS2	3957	broad.mit.edu	37	22	37966591	37966591	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:37966591C>T	ENST00000215886.4	-	3	415	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ACCTTGACCTCTGACCCTGGG	0.592000													6	158					0	0	0.001984	0	0
SALL4	57167	broad.mit.edu	37	20	50407792	50407792	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:50407792G>A	ENST00000217086.4	-	2	1341	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	410					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGAGCACACGAAGGGTCTCT	0.557000													5	50					0	0	0.001168	0	0
NRXN3	9369	broad.mit.edu	37	14	79432636	79432636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:79432636G>T	ENST00000554719.1	+	9	2036	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	NRXN3_ENST00000335750.5_Missense_Mutation_p.Q515H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACTCTTCAGGCTTACACCT	0.488000													14	102					1.49906e-05	2.11296e-05	0.002450	1	0
TCHH	7062	broad.mit.edu	37	1	152081786	152081786	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:152081786C>T	ENST00000368804.1	-	2	3906	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1303	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTTGCTCTTCTCGCTCC	0.557000													11	142					0	0	0.008291	0	0
EPHX4	253152	broad.mit.edu	37	1	92511127	92511127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:92511127G>T	ENST00000370383.4	+	4	612	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	172						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGACTGGGGGGGCATGATTGC	0.388000													15	98					4.75885e-15	9.10745e-15	0.004990	1	0
NPY2R	4887	broad.mit.edu	37	4	156135529	156135529	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:156135529G>T	ENST00000329476.3	+	2	927	c.438G>T	c.(436-438)ctG>ctT	p.L146L	NPY2R_ENST00000506608.1_Silent_p.L146L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	146					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TAATTGCCCTGGACCGGCACA	0.567000													5	44					0.00116845	0.00149507	0.001168	1	0
EBF2	64641	broad.mit.edu	37	8	25744349	25744349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:25744349G>T	ENST00000520164.1	-	10	1468	c.931C>A	c.(931-933)Cca>Aca	p.P311T	EBF2_ENST00000535548.1_Missense_Mutation_p.P42T|EBF2_ENST00000408929.3_Missense_Mutation_p.P163T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	311	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P311T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCACGCCTGGGATGTGCCGG	0.463000													9	58					1.76689e-08	2.87363e-08	0.006214	1	0
UNC13B	10497	broad.mit.edu	37	9	35310603	35310603	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:35310603A>T	ENST00000378495.3	+	9	1123	c.901A>T	c.(901-903)Agc>Tgc	p.S301C	UNC13B_ENST00000396787.1_Missense_Mutation_p.S313C|UNC13B_ENST00000378496.4_Missense_Mutation_p.S301C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	301					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTCTCACAGCCTGTCCAG	0.512000													18	107					0	0	0.007413	0	0
SCYL2	55681	broad.mit.edu	37	12	100727948	100727948	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:100727948A>T	ENST00000360820.2	+	14	2203	c.1766A>T	c.(1765-1767)aAt>aTt	p.N589I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	589					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TACCAGTTCAATTCTTTCATT	0.294000													16	69					0	0	0.004990	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868043	7868043	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:7868043G>A	ENST00000264669.5	-	2	290	c.154C>T	c.(154-156)Cct>Tct	p.P52S	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	52					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACCCCGAAAGGCTCAGGTTGT	0.438000													15	62					0	0	0.004007	0	0
SAMHD1	25939	broad.mit.edu	37	20	35539683	35539683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:35539683C>A	ENST00000262878.4	-	11	1407	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	403					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CTTTTTTCCTCCAGCACCTGT	0.353000													23	111					6.07407e-21	1.19862e-20	0.007291	1	0
KRT23	25984	broad.mit.edu	37	17	39092847	39092847	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:39092847G>A	ENST00000209718.3	-	2	433	c.9C>T	c.(7-9)tcC>tcT	p.S3S	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	3	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGCTGTGTCCGGAGTTCATGG	0.667000													6	31					0	0	0.001168	0	0
AKAP12	9590	broad.mit.edu	37	6	151674410	151674410	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:151674410T>A	ENST00000402676.2	+	4	5124	c.4884T>A	c.(4882-4884)tcT>tcA	p.S1628S	AKAP12_ENST00000253332.1_Silent_p.S1628S|AKAP12_ENST00000354675.6_Silent_p.S1530S|AKAP12_ENST00000359755.5_Silent_p.S1523S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1628					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCACATTCTGATATTTCCA	0.478000													7	36					0	0	0.001984	0	0
KLHDC2	23588	broad.mit.edu	37	14	50247032	50247032	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:50247032A>T	ENST00000298307.5	+	9	1736	c.875A>T	c.(874-876)cAg>cTg	p.Q292L	KLHDC2_ENST00000557247.1_Missense_Mutation_p.Q292L|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Q292L	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	292						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ACTGATAAACAGCCACTAAGT	0.373000													14	95					0	0	0.002450	0	0
SCARA3	51435	broad.mit.edu	37	8	27516621	27516621	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:27516621G>C	ENST00000301904.3	+	5	954	c.934G>C	c.(934-936)Gat>Cat	p.D312H	SCARA3_ENST00000337221.4_Missense_Mutation_p.D312H	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	312					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCTGCAGCTGGATAACATCTC	0.567000													4	51					0	0	0.000248	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973512	31973512	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr21:31973512G>T	ENST00000334680.2	+	1	99	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	25						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						CTATGGCTGTGGTCTTAGCGG	0.478000													17	119					3.52763e-06	5.20355e-06	0.004990	1	0
TNN	63923	broad.mit.edu	37	1	175092534	175092534	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:175092534A>T	ENST00000239462.4	+	12	2763		c.e12-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTTTTAAAAAGAAATTGACG	0.443000													11	59					0	0	0.000978	0	0
AGXT	189	broad.mit.edu	37	2	241812406	241812406	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:241812406C>A	ENST00000307503.3	+	5	922	c.535C>A	c.(535-537)Ctg>Atg	p.L179M		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	179					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTACAAGTGCCTGCTCCTGGT	0.662000													14	76					6.72482e-11	1.18485e-10	0.003163	1	0
GART	2618	broad.mit.edu	37	21	34876749	34876749	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr21:34876749T>A	ENST00000381831.3	-	21	3074	c.2811A>T	c.(2809-2811)acA>acT	p.T937T	GART_ENST00000381815.4_Silent_p.T937T|GART_ENST00000543717.1_Silent_p.T489T|GART_ENST00000381839.3_Silent_p.T937T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	937	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCCAGTAACTGTGACTCCGG	0.398000													21	80					0	0	0.002299	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355830	49355830	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:49355830G>T	ENST00000362097.1	+	3	195	c.112G>T	c.(112-114)Gca>Tca	p.A38S		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					AGTGGAACCAGCAACACCTGA	0.468000													33	724					0.000117367	0.000160836	0.005443	1	0
PIF1	80119	broad.mit.edu	37	15	65110486	65110486	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:65110486C>A	ENST00000268043.4	-	10	1592	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	PIF1_ENST00000333425.6_Missense_Mutation_p.V500L|PIF1_ENST00000559239.1_Missense_Mutation_p.V500L			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	500	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCAACTACCACCCCTCGGGCA	0.607000													9	36					4.68919e-08	7.46237e-08	0.008291	1	0
PNMA5	114824	broad.mit.edu	37	X	152159339	152159339	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:152159339G>C	ENST00000439251.1	-	2	1242	c.804C>G	c.(802-804)ccC>ccG	p.P268P	PNMA5_ENST00000452693.1_Silent_p.P268P|PNMA5_ENST00000361887.5_Silent_p.P268P|PNMA5_ENST00000535214.1_Silent_p.P268P	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	268					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGCAGGGGCTCTAAGC	0.542000													11	83					0	0	0.008291	0	0
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase.		Missing (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587000													25	189					0	0	0.004656	0	0
OR7A17	26333	broad.mit.edu	37	19	14992093	14992093	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:14992093G>T	ENST00000327462.2	-	1	171	c.75C>A	c.(73-75)ccC>ccA	p.P25P		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CAAAGAGGAAGGGCTGCAATT	0.453000													5	28					0.000602214	0.000786421	0.000602	1	0
COL22A1	169044	broad.mit.edu	37	8	139629185	139629185	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:139629185G>A	ENST00000303045.6	-	54	4288	c.3842C>T	c.(3841-3843)aCa>aTa	p.T1281I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.T1261I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1281	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGAATCGCCTGTGTGTCCCTT	0.577000										HNSCC(7;0.00092)			18	53					0	0	0.007413	0	0
ZNF384	171017	broad.mit.edu	37	12	6787405	6787405	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:6787405G>A	ENST00000396795.1	-	5	1071	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	ZNF384_ENST00000361959.3_Missense_Mutation_p.R192W|ZNF384_ENST00000355772.4_Missense_Mutation_p.R137W|ZNF384_ENST00000319770.3_Missense_Mutation_p.R176W|ZNF384_ENST00000396799.2_Missense_Mutation_p.R192W|ZNF384_ENST00000396801.3_Missense_Mutation_p.R192W			Q8TF68	ZN384_HUMAN	zinc finger protein 384	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TTCCGGCCCCGGGGTGGCTTA	0.592000			T	"""EWSR1, TAF15 """	ALL								17	64					0	0	0.004990	0	0
KRT73	319101	broad.mit.edu	37	12	53005044	53005044	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:53005044C>G	ENST00000305748.3	-	6	1088	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	352	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGGTCAGCTCTGAGATCTCA	0.537000													5	70					0	0	0.001984	0	0
NLRC4	58484	broad.mit.edu	37	2	32476210	32476210	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:32476210C>G	ENST00000404025.2	-	5	1211	c.723G>C	c.(721-723)caG>caC	p.Q241H	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q241H|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q241H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	241	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.Q241H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAGAACCCTCTGCCGCAGCT	0.493000													17	85					0	0	0.006122	0	0
PDCL3	79031	broad.mit.edu	37	2	101188174	101188174	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:101188174C>T	ENST00000264254.6	+	5	869	c.491C>T	c.(490-492)cCc>cTc	p.P164L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	164					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGGAATCTGCCCACGATATTT	0.453000													24	151					0	0	0.003954	0	0
SAGE1	55511	broad.mit.edu	37	X	134983716	134983716	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:134983716A>T	ENST00000535938.1	+	3	254		c.e3-1		SAGE1_ENST00000370709.3_Splice_Site|SAGE1_ENST00000324447.3_Splice_Site|SAGE1_ENST00000537770.1_Splice_Site	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1											breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATGTTTTTCAGCAAATGAGG	0.368000													15	130					0	0	0.003163	0	0
KLHL1	57626	broad.mit.edu	37	13	70456537	70456537	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:70456537C>G	ENST00000377844.4	-	5	1864	c.1105G>C	c.(1105-1107)Gtt>Ctt	p.V369L	KLHL1_ENST00000545028.1_Missense_Mutation_p.V176L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	369					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCATCAGGAACATTGACATCA	0.423000													6	71					0	0	0.001984	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656204	40656204	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:40656204A>T	ENST00000406785.1	-	2	1406	c.1217T>A	c.(1216-1218)gTt>gAt	p.V406D	SLC8A1_ENST00000402441.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V406D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V406D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V406D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V406D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	406	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GATCTTACTAACAGGGTCATT	0.468000													5	68					0	0	0.000602	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753443	18753443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:18753443C>A	ENST00000380548.4	+	16	2493	c.2154C>A	c.(2152-2154)agC>agA	p.S718R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	718	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAAGCCCAGCACGGTGCAAG	0.537000													4	26					0.000602214	0.000786421	0.000602	1	0
PDCD11	22984	broad.mit.edu	37	10	105173725	105173725	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:105173725C>G	ENST00000369797.3	+	10	1282	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	396	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTGCAGCTCAGCCATCTCT	0.458000													4	56					0	0	0.000248	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618910	77618910	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:77618910C>A	ENST00000521891.2	+	2	3035	c.2587C>A	c.(2587-2589)Ctc>Atc	p.L863I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L863I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L863I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L863I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCACCAGGGCTCGGTTAGTA	0.493000										HNSCC(33;0.089)			9	8					2.17888e-05	3.06146e-05	0.006214	1	0
GC	2638	broad.mit.edu	37	4	72634097	72634097	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:72634097C>T	ENST00000273951.8	-	3	525	c.182G>A	c.(181-183)aGc>aAc	p.S61N	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.S61N|GC_ENST00000504199.1_Missense_Mutation_p.S80N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	61	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CACAAGTTGGCTGACCTGTTC	0.483000													5	28					0	0	0.001168	0	0
OR14I1	401994	broad.mit.edu	37	1	248844960	248844960	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:248844960A>T	ENST00000342623.3	-	1	669	c.646T>A	c.(646-648)Tat>Aat	p.Y216N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	216			Y -> C (in dbSNP:rs55871516).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATTTGGAAATAGGAGATCATC	0.488000													17	70					0	0	0.007413	0	0
TOP3B	8940	broad.mit.edu	37	22	22317257	22317257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:22317257C>A	ENST00000398793.2	-	12	1647	c.1213G>T	c.(1213-1215)Gcg>Tcg	p.A405S	TOP3B_ENST00000357179.5_Missense_Mutation_p.A405S|TOP3B_ENST00000413067.2_Missense_Mutation_p.A134S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	405					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCCGCCACGCGTCACCCCCT	0.617000													7	21					8.12818e-05	0.000111731	0.001984	1	0
C7orf65	401335	broad.mit.edu	37	7	47698786	47698786	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:47698786A>G	ENST00000408988.2	+	3	451	c.416A>G	c.(415-417)aAa>aGa	p.K139R		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	139										endometrium(1)|lung(2)	3						GTGAGCTGCAAAAAAGGAAAG	0.537000													8	45					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463883	25463883	+	RNA	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:25463883C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGCTGGGATCCCAGGGTCCCC	0.522000													13	125					2.27111e-07	3.55061e-07	0.001368	1	0
HMMR	3161	broad.mit.edu	37	5	162911107	162911107	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:162911107G>T	ENST00000416990.2	+	16	1970	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	HMMR_ENST00000358715.3_Missense_Mutation_p.Q605H|HMMR_ENST00000353866.3_Missense_Mutation_p.Q590H|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.Q606H|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.Q519H			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	605						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAGAAAAACAGGCATTGTTGA	0.289000													7	47					0.000157383	0.000213043	0.003080	1	0
KIAA1211	57482	broad.mit.edu	37	4	57193886	57193886	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:57193886C>A	ENST00000504228.1	+	9	3723	c.3618C>A	c.(3616-3618)gcC>gcA	p.A1206A	KIAA1211_ENST00000541073.1_Silent_p.A1199A|KIAA1211_ENST00000264229.6_Silent_p.A1206A			Q6ZU35	K1211_HUMAN	KIAA1211	1206										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGGATGCTGCCCCCGTGTCAA	0.527000													20	186					1.15919e-05	1.66025e-05	0.008871	1	0
BLVRA	644	broad.mit.edu	37	7	43846649	43846649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:43846649G>T	ENST00000402924.1	+	9	869	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	BLVRA_ENST00000265523.4_Missense_Mutation_p.G236W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	236					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TTTCAAGTCTGGGTCCTTGGA	0.373000													24	52					1.64293e-13	3.0779e-13	0.003330	1	0
LINC00922	283867	broad.mit.edu	37	16	65319336	65319336	+	RNA	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:65319336G>T	ENST00000569736.1	-	0	825				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						TGGCGGTCTTGTGTGTGCTAA	0.502000													6	27					8.12818e-05	0.000111731	0.001984	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527301	33527301	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:33527301C>T	ENST00000504830.1	-	24	5112	c.4777G>A	c.(4777-4779)Gaa>Aaa	p.E1593K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1508K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1593					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTAGAGTTCTTTTGACTTT	0.537000										HNSCC(64;0.19)			33	185					0	0	0.003271	0	0
CRB1	23418	broad.mit.edu	37	1	197325967	197325967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:197325967C>A	ENST00000367400.3	+	5	1130	c.995C>A	c.(994-996)aCa>aAa	p.T332K	CRB1_ENST00000535699.1_Missense_Mutation_p.T263K|CRB1_ENST00000543483.1_Missense_Mutation_p.T31K|CRB1_ENST00000367399.2_Missense_Mutation_p.T220K|CRB1_ENST00000538660.1_Missense_Mutation_p.T332K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	332	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAGGATACACAGGTGCCCAG	0.453000													4	39					5.9392e-07	9.09312e-07	0.001168	1	0
MTUS1	57509	broad.mit.edu	37	8	17579393	17579393	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:17579393T>A	ENST00000381861.3	-	1	337	c.18A>T	c.(16-18)ggA>ggT	p.G6G	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000544260.1_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AACTGCGAAATCCTCCTGGTA	0.408000													6	42					0	0	0.001984	0	0
ROBO2	6092	broad.mit.edu	37	3	77147290	77147290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:77147290G>T	ENST00000461745.1	+	2	1087	c.187G>T	c.(187-189)Gag>Tag	p.E63*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.E79*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.E63*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	63	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCCACCATTGAGTGGTACAA	0.597000													9	35					1.12685e-05	1.61916e-05	0.004482	1	0
KLHL4	56062	broad.mit.edu	37	X	86773224	86773224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:86773224G>T	ENST00000373119.4	+	1	473	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	KLHL4_ENST00000373114.4_Missense_Mutation_p.V110F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	110						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						TCCTAAATCAGTTCCAGAGAA	0.418000													18	79					0.00074312	0.000964753	0.006122	1	0
MYH7	4625	broad.mit.edu	37	14	23885457	23885457	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:23885457G>T	ENST00000355349.3	-	34	4871	c.4709C>A	c.(4708-4710)gCa>gAa	p.A1570E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1570					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGATCTCTGCCTTGATCTG	0.642000													19	137					3.32936e-07	5.16866e-07	0.006122	1	0
OR4K13	390433	broad.mit.edu	37	14	20502726	20502726	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:20502726G>C	ENST00000315693.2	-	1	193	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGAGAGGTTGCTAAGCAGAA	0.458000													10	47					0	0	0.000978	0	0
SEC11C	90701	broad.mit.edu	37	18	56819837	56819837	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:56819837C>G	ENST00000587834.1	+	3	739	c.267C>G	c.(265-267)atC>atG	p.I89M	SEC11C_ENST00000588875.1_Missense_Mutation_p.I89M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	89					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAGACCCAATCAGAGCTGGTG	0.423000													6	147					0	0	0.001168	0	0
OR52B6	340980	broad.mit.edu	37	11	5602780	5602780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:5602780C>A	ENST00000345043.2	+	1	674	c.674C>A	c.(673-675)tCc>tAc	p.S225Y	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCTTCTCTCCACAGGCCTA	0.498000													24	155					6.36457e-07	9.7109e-07	0.003954	1	0
BTK	695	broad.mit.edu	37	X	100613358	100613358	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:100613358C>T	ENST00000308731.7	-	12	1205	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	348	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGTGCTTCTCAGCCAGGTAA	0.502000									Agammaglobulinemia, X-linked				9	141					0	0	0.004482	0	0
DDX50	79009	broad.mit.edu	37	10	70700879	70700879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:70700879G>C	ENST00000373585.3	+	13	1926	c.1819G>C	c.(1819-1821)Gaa>Caa	p.E607Q	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	607						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGCTTGGAAAGAACTTAACAG	0.388000													6	41					0	0	0.001984	0	0
HPGDS	27306	broad.mit.edu	37	4	95223336	95223336	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:95223336G>A	ENST00000295256.5	-	5	486	c.396C>T	c.(394-396)gaC>gaT	p.D132D		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	132	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CTAAATATGTGTCCAAGTCTT	0.358000													45	182					0	0	0.003610	0	0
SLC25A23	79085	broad.mit.edu	37	19	6456529	6456529	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:6456529C>T	ENST00000301454.4	-	4	491	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	SLC25A23_ENST00000334510.5_Missense_Mutation_p.G129S	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	129	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCATTGTGCCGTCTCGGTCC	0.562000													4	36					0	0	0.001168	0	0
FAM83B	222584	broad.mit.edu	37	6	54735345	54735345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:54735345G>T	ENST00000306858.7	+	2	417	c.301G>T	c.(301-303)Gct>Tct	p.A101S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	101										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGATGTGGAAGCTCCAAATCT	0.473000													27	97					2.44723e-14	4.66339e-14	0.004656	1	0
PSME4	23198	broad.mit.edu	37	2	54155334	54155334	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:54155334G>C	ENST00000404125.1	-	11	1478	c.1423C>G	c.(1423-1425)Cct>Gct	p.P475A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	475					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGACCTTCAGGAAACCATCTG	0.438000													9	45					0	0	0.004482	0	0
TNC	3371	broad.mit.edu	37	9	117852845	117852845	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:117852845G>A	ENST00000350763.4	-	2	864	c.453C>T	c.(451-453)gcC>gcT	p.A151A	TNC_ENST00000345230.3_Silent_p.A151A|TNC_ENST00000341037.4_Silent_p.A151A|TNC_ENST00000346706.3_Silent_p.A151A|TNC_ENST00000542877.1_Silent_p.A151A|TNC_ENST00000537320.1_Silent_p.A151A|TNC_ENST00000535648.1_Silent_p.A151A|TNC_ENST00000340094.3_Silent_p.A151A|TNC_ENST00000423613.2_Silent_p.A151A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	151					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATACCTGTGGCAGGCTGGA	0.557000													8	86					0	0	0.004482	0	0
OR2A14	135941	broad.mit.edu	37	7	143826518	143826518	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:143826518G>T	ENST00000408899.2	+	1	368	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTGTATTTGGCTTTTGCTCA	0.453000													38	213					2.75727e-19	5.39308e-19	0.004878	1	0
SPANXC	64663	broad.mit.edu	37	X	140336551	140336551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:140336551C>A	ENST00000358993.2	-	1	78	c.40G>T	c.(40-42)Gtc>Ttc	p.V14F		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	14						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCACAGGGGACGCTCCTCTTC	0.498000													31	152					9.04072e-19	1.76056e-18	0.003271	1	0
FGA	2243	broad.mit.edu	37	4	155507469	155507469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:155507469C>A	ENST00000302053.3	-	5	1190	c.1112G>T	c.(1111-1113)gGg>gTg	p.G371V	FGA_ENST00000403106.3_Missense_Mutation_p.G371V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	371					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTCCAGTGCCCAGCACTTCC	0.552000													31	90					6.38683e-12	1.16698e-11	0.008361	1	0
TXNIP	10628	broad.mit.edu	37	1	145440958	145440958	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:145440958A>T	ENST00000369317.4	+	7	1379	c.1045A>T	c.(1045-1047)Act>Tct	p.T349S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	349					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCCCAACCACTCCTCTGCT	0.468000													24	130					0	0	0.002780	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:149457738G>T	ENST00000286301.3	-	5	957	c.666C>A	c.(664-666)atC>atA	p.I222I	CSF1R_ENST00000543093.1_Silent_p.I222I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000													10	59					7.48243e-07	1.13386e-06	0.006214	1	0
CAD	790	broad.mit.edu	37	2	27463183	27463183	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:27463183C>T	ENST00000264705.4	+	35	5709	c.5547C>T	c.(5545-5547)ttC>ttT	p.F1849F	CAD_ENST00000403525.1_Silent_p.F1786F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1849	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATGGCCGCTTCCATCTGCCGC	0.547000													7	111					0	0	0.003080	0	0
MEIOB	254528	broad.mit.edu	37	16	1891847	1891847	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:1891847T>G	ENST00000412554.2	-	11	1202	c.1008A>C	c.(1006-1008)gaA>gaC	p.E336D	MEIOB_ENST00000452149.2_Missense_Mutation_p.E336D|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000397344.3_Missense_Mutation_p.E336D|MEIOB_ENST00000470044.1_Missense_Mutation_p.E129D|MEIOB_ENST00000325962.3_Missense_Mutation_p.E336D	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		CTTTTGTAGTTTCATCATCAA	0.318000													11	51					0	0	0.000978	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175742	143175742	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:143175742C>T	ENST00000408916.1	+	1	777	c.777C>T	c.(775-777)tcC>tcT	p.S259S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	259					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AATTTATCTCCATGCAGAACG	0.483000													8	91					0	0	0.004482	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302859	162302859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:162302859G>T	ENST00000361897.5	+	5	799	c.397G>T	c.(397-399)Gct>Tct	p.A133S	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A128S	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	133	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGCTATATCGCTCGAGATGG	0.418000													10	55					3.07112e-06	4.54525e-06	0.000978	1	0
OSMR	9180	broad.mit.edu	37	5	38925343	38925343	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:38925343G>T	ENST00000274276.3	+	15	2484	c.2082G>T	c.(2080-2082)ccG>ccT	p.P694P		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGACAACCCGGAAGAAAAGG	0.353000													22	78					2.89027e-11	5.15373e-11	0.002299	1	0
SNHG14	104472715	broad.mit.edu	37	15	25330540	25330540	+	RNA	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:25330540G>C	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTGGATCGATGATGACTTCCT	0.453000													9	146					0	0	0.004482	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761500	27761500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:27761500C>G	ENST00000261588.4	+	16	3238	c.3219C>G	c.(3217-3219)atC>atG	p.I1073M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1073										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTGCCCTGATCAGAATTTGGA	0.522000													3	52					0	0	0.004672	0	0
CHL1	10752	broad.mit.edu	37	3	447322	447322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:447322C>A	ENST00000256509.2	+	28	4245	c.3603C>A	c.(3601-3603)taC>taA	p.Y1201*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y1185*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1185					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGTGCCTACGCTGGATCTA	0.458000													20	70					2.32416e-17	4.48663e-17	0.002299	1	0
ARL6IP6	151188	broad.mit.edu	37	2	153575486	153575486	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:153575486C>G	ENST00000326446.5	+	1	1059	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	116						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCGCTGCTCTTCGCCATTC	0.582000													5	85					0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62300719	62300719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:62300719C>G	ENST00000378024.4	-	5	1444	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	390					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCTGTGGCTTGGCACCTT	0.587000													5	31					0	0	0.001168	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774002	140774002	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:140774002C>A	ENST00000398604.2	+	1	1622	c.1622C>A	c.(1621-1623)cCc>cAc	p.P541H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACCCGCCCCTCAGCAGC	0.602000													22	127					7.33532e-06	1.07134e-05	0.003954	1	0
IGHA2	3494	broad.mit.edu	37	14	106054696	106054696	+	RNA	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:106054696G>T	ENST00000390539.2	-	0	36																											GTGCTGTCGAGGCTCAGCGGG	0.637000													6	55					5.9392e-07	9.09312e-07	0.001168	1	0
DTNA	1837	broad.mit.edu	37	18	32398234	32398234	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:32398234G>T	ENST00000283365.9	+	9	1167	c.816G>T	c.(814-816)tgG>tgT	p.W272C	DTNA_ENST00000269191.6_Missense_Mutation_p.W272C|DTNA_ENST00000399113.3_Missense_Mutation_p.W272C|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.W272C|DTNA_ENST00000595022.1_Missense_Mutation_p.W272C|DTNA_ENST00000444659.1_Missense_Mutation_p.W272C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.W272C|DTNA_ENST00000315456.6_Missense_Mutation_p.W272C|DTNA_ENST00000598142.1_Missense_Mutation_p.W272C|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.W272C|DTNA_ENST00000554864.3_Missense_Mutation_p.W272C|DTNA_ENST00000348997.5_Missense_Mutation_p.W272C|DTNA_ENST00000598774.1_Missense_Mutation_p.W272C|DTNA_ENST00000399121.5_Missense_Mutation_p.W272C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	272	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACTGCTTCTGGAGGGGACATG	0.507000													6	40					0.00116845	0.00149507	0.001168	1	0
BPTF	2186	broad.mit.edu	37	17	65889808	65889808	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:65889808C>T	ENST00000321892.4	+	8	2817	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L	BPTF_ENST00000306378.6_Missense_Mutation_p.S793L|BPTF_ENST00000424123.3_Missense_Mutation_p.S780L|BPTF_ENST00000335221.5_Missense_Mutation_p.S919L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	919	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCCCTTCATCCTTTCTT	0.368000													7	97					0	0	0.001984	0	0
OR52N2	390077	broad.mit.edu	37	11	5841709	5841709	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:5841709C>G	ENST00000317037.2	+	1	166	c.144C>G	c.(142-144)atC>atG	p.I48M	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCTCATCTGCCTCATCA	0.552000													6	109					0	0	0.001984	0	0
LRFN5	145581	broad.mit.edu	37	14	42356141	42356141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:42356141C>G	ENST00000554171.1	+	5	2745	c.313C>G	c.(313-315)Cat>Gat	p.H105D	LRFN5_ENST00000554120.1_Missense_Mutation_p.H105D|LRFN5_ENST00000298119.4_Missense_Mutation_p.H105D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	105						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAGGGCTTTGCATTTGAATAG	0.368000										HNSCC(30;0.082)			10	58					0	0	0.008291	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158619	26158619	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:26158619C>T	ENST00000289316.2	+	1	246	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST1H2BD_ENST00000377777.4_Silent_p.I74I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCGAGCGCATCGCAGGCGAGG	0.602000													9	176					0	0	0.006214	0	0
ZNF528	84436	broad.mit.edu	37	19	52919235	52919235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:52919235G>T	ENST00000360465.3	+	7	1556	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACACTGGAAGGAAACCT	0.418000													9	70					4.68919e-08	7.46237e-08	0.008291	1	0
METAP1	23173	broad.mit.edu	37	4	99960598	99960598	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:99960598G>A	ENST00000296411.6	+	5	548	c.414G>A	c.(412-414)ggG>ggA	p.G138G	METAP1_ENST00000544031.1_Silent_p.G88G	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	138					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		ATATAGAAGGGATGCGACTTG	0.363000													22	89					0	0	0.001882	0	0
ZNF668	79759	broad.mit.edu	37	16	31072695	31072695	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:31072695G>A	ENST00000538906.1	-	3	2338	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	ZNF668_ENST00000394983.2_Silent_p.C518C|ZNF668_ENST00000300849.4_Silent_p.C518C|ZNF668_ENST00000426488.2_Silent_p.C541C|ZNF668_ENST00000539836.3_Silent_p.C541C|ZNF668_ENST00000535577.1_Silent_p.C518C	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCACTCTCGGCACACAAACT	0.662000													8	63					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196825332	196825332	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:196825332C>A	ENST00000312428.6	-	18	2643	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	848	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGGCGCAAACCAGGATTACA	0.448000													13	129					1.49906e-05	2.11296e-05	0.002450	1	0
MARCH6	10299	broad.mit.edu	37	5	10382003	10382003	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:10382003T>A	ENST00000274140.5	+	4	414	c.282T>A	c.(280-282)ttT>ttA	p.F94L	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	94					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GATATTGGTTTCATTATACAC	0.393000													30	166					0	0	0.002445	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021798	51021798	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:51021798A>T	ENST00000599957.1	-	3	1369	c.1172T>A	c.(1171-1173)aTg>aAg	p.M391K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.M391K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	391	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GACGGAGGTCATGGAGGTGCC	0.642000													4	18					0	0	0.000248	0	0
GABRB2	2561	broad.mit.edu	37	5	160757927	160757927	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:160757927C>A	ENST00000274547.2	-	9	1257	c.1040G>T	c.(1039-1041)aGt>aTt	p.S347I	GABRB2_ENST00000517547.1_Missense_Mutation_p.S187I|GABRB2_ENST00000393959.1_Missense_Mutation_p.S347I|GABRB2_ENST00000520240.1_Missense_Mutation_p.S347I|GABRB2_ENST00000353437.6_Missense_Mutation_p.S347I|GABRB2_ENST00000517901.1_Missense_Mutation_p.S284I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	347					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTGTTGGCACTGGCAGCCTT	0.493000													15	123					0.000308642	0.000412762	0.003163	1	0
SNAP91	9892	broad.mit.edu	37	6	84417640	84417640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:84417640C>A	ENST00000428679.2	-	2	600	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	SNAP91_ENST00000439399.2_Missense_Mutation_p.G3C|SNAP91_ENST00000195649.6_Missense_Mutation_p.G3C|SNAP91_ENST00000520302.1_Missense_Mutation_p.G3C|SNAP91_ENST00000369694.2_Missense_Mutation_p.G3C|SNAP91_ENST00000520213.1_Missense_Mutation_p.G3C|SNAP91_ENST00000521485.1_Missense_Mutation_p.G3C|SNAP91_ENST00000521743.1_Missense_Mutation_p.G3C|SNAP91_ENST00000437520.1_Missense_Mutation_p.G3C			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	3					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGCGTTTGGCCCGACATCTTC	0.587000													7	35					2.0095e-06	3.0041e-06	0.001984	1	0
SCN4A	6329	broad.mit.edu	37	17	62041056	62041056	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:62041056T>A	ENST00000578147.1	-	10	1658	c.1582A>T	c.(1582-1584)Agc>Tgc	p.S528C	SCN4A_ENST00000435607.1_Missense_Mutation_p.S528C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	528					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAGATGCCGCTGTCTCCGCTG	0.637000													4	14					0	0	0.000248	0	0
CBLN3	643866	broad.mit.edu	37	14	24897996	24897996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:24897996C>T	ENST00000267406.6	-	1	735	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	CBLN3_ENST00000555436.1_Intron	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	89	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTGCCATTGCCGGTTTCCCCT	0.657000													8	29					0	0	0.004482	0	0
RPN2	6185	broad.mit.edu	37	20	35860773	35860773	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:35860773G>T	ENST00000237530.6	+	14	1967	c.1656G>T	c.(1654-1656)ccG>ccT	p.P552P	RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Silent_p.P520P	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	552					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCCTCTCGCCGTTGCTTCTGC	0.582000													17	105					5.03518e-11	8.94249e-11	0.007413	1	0
SORBS3	10174	broad.mit.edu	37	8	22428517	22428517	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:22428517A>T	ENST00000240123.7	+	18	1909	c.1526A>T	c.(1525-1527)tAc>tTc	p.Y509F	SORBS3_ENST00000428103.1_Missense_Mutation_p.Y167F|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	509	Binds to vinculin.|SH3 2.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGCCAGCTACGTGCAGGTG	0.677000													8	54					0	0	0.006214	0	0
KIAA1377	57562	broad.mit.edu	37	11	101829004	101829004	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:101829004G>A	ENST00000263468.8	+	5	882	c.612G>A	c.(610-612)atG>atA	p.M204I	KIAA1377_ENST00000537689.1_Missense_Mutation_p.M5I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	204							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGAAAACATGAGGGCAACCT	0.373000													21	207					0	0	0.001523	0	0
IREB2	3658	broad.mit.edu	37	15	78777227	78777227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:78777227C>T	ENST00000258886.8	+	12	1687	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	513							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)		ATCAGTTGTACCAATAATTGC	0.378000													7	42					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	134146946	134146946	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:134146946G>A	ENST00000220616.4	+	48	8255	c.8215G>A	c.(8215-8217)Gag>Aag	p.E2739K	TG_ENST00000377869.1_Missense_Mutation_p.E2682K|TG_ENST00000519543.1_Missense_Mutation_p.E872K|TG_ENST00000542445.1_Missense_Mutation_p.E1109K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2739					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGTCAGCAGAGAGTGAAGA	0.547000													5	62					0	0	0.000602	0	0
PMS2	5395	broad.mit.edu	37	7	6027151	6027151	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:6027151C>A	ENST00000265849.7	-	11	1350	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.V415V|PMS2_ENST00000441476.2_Silent_p.V309V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	415					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGGAAATGGACACGTCTTTTT	0.458000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	52					0.000219431	0.000296132	0.002450	1	0
LRP1	4035	broad.mit.edu	37	12	57587421	57587421	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:57587421A>G	ENST00000243077.3	+	47	8223	c.7757A>G	c.(7756-7758)aAc>aGc	p.N2586S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2586	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGTGCAACGGGGCCGAC	0.602000													7	31					0	0	0.001984	0	0
BCORL1	63035	broad.mit.edu	37	X	129148345	129148345	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:129148345G>A	ENST00000540052.1	+	3	1641	c.1597G>A	c.(1597-1599)Ggt>Agt	p.G533S	BCORL1_ENST00000303743.5_Missense_Mutation_p.G533S|BCORL1_ENST00000359304.2_Missense_Mutation_p.G533S|BCORL1_ENST00000218147.7_Missense_Mutation_p.G533S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	533	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCCCCATCCGGTAGCACCAC	0.592000													22	196					0	0	0.003330	0	0
KLHL5	51088	broad.mit.edu	37	4	39109275	39109275	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:39109275C>G	ENST00000261425.3	+	9	1764	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	KLHL5_ENST00000504108.1_Missense_Mutation_p.Q584E|KLHL5_ENST00000261426.5_Missense_Mutation_p.Q523E|KLHL5_ENST00000381930.3_Missense_Mutation_p.Q584E|KLHL5_ENST00000508137.2_Missense_Mutation_p.Q397E|KLHL5_ENST00000359687.2_Missense_Mutation_p.Q584E	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	584						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGGACCCTCAGGCTCGCCA	0.483000													6	72					0	0	0.001168	0	0
SMR3A	26952	broad.mit.edu	37	4	71232504	71232504	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:71232504C>A	ENST00000226460.4	+	3	294	c.198C>A	c.(196-198)ccC>ccA	p.P66P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	66	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTCCACCACCCCTTTCTCCAC	0.552000													20	158					7.41877e-09	1.22451e-08	0.001882	1	0
RYR2	6262	broad.mit.edu	37	1	237947676	237947676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:237947676G>T	ENST00000366574.2	+	90	12981	c.12664G>T	c.(12664-12666)Gag>Tag	p.E4222*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4228*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4206*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4222					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAAGCGAGAAGGAGAG	0.542000													5	43					0.000602214	0.000786421	0.000602	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817514	26817514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:26817514G>T	ENST00000444914.3	+	3	841	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	SLC13A2_ENST00000314669.5_Missense_Mutation_p.G92W|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G49W|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G21W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	92						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTGTTCTTCGGGGGGCTGCT	0.637000													6	131					0.00198382	0.00252383	0.001984	1	0
TDRD7	23424	broad.mit.edu	37	9	100245541	100245541	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:100245541G>C	ENST00000355295.4	+	15	3118	c.2823G>C	c.(2821-2823)ctG>ctC	p.L941L	TDRD7_ENST00000540902.1_Silent_p.L261L|TDRD7_ENST00000422139.2_Silent_p.L867L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	941	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGAAGTTCTGATGGAAGAGA	0.478000													5	78					0	0	0.000602	0	0
ABCC8	6833	broad.mit.edu	37	11	17496452	17496452	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:17496452C>T	ENST00000302539.4	-	2	396	c.271G>A	c.(271-273)Gag>Aag	p.E91K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E91K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	91					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGATGCCCTCTGCAATCTCA	0.552000													4	47					0	0	0.000248	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032219	46032219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr21:46032219C>A	ENST00000334662.2	+	1	224	c.202C>A	c.(202-204)Cca>Aca	p.P68T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	68	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTGTGCCCCAGCCCCCTG	0.662000													10	77					7.48243e-07	1.13386e-06	0.006214	1	0
SSFA2	6744	broad.mit.edu	37	2	182786958	182786958	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:182786958C>T	ENST00000431877.2	+	16	3673	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F	SSFA2_ENST00000409136.1_Missense_Mutation_p.S674F|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.S1165F|SSFA2_ENST00000428267.2_Missense_Mutation_p.S990F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S1143F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1165						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGAACAGGCTCTGTGCAGACA	0.502000													6	117					0	0	0.001168	0	0
SHANK2	22941	broad.mit.edu	37	11	70331742	70331742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:70331742C>T	ENST00000338508.4	-	32	4658	c.4659G>A	c.(4657-4659)atG>atA	p.M1553I	SHANK2_ENST00000409161.1_Missense_Mutation_p.M956I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M957I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M1173I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1173					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGATGGGCTTCATTTTTGGCT	0.517000													12	162					0	0	0.001855	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240560	39240560	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647000													4	71					0	0	0.003080	0	0
ARR3	407	broad.mit.edu	37	X	69497954	69497954	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:69497954A>C	ENST00000374495.3	+	11	831	c.733A>C	c.(733-735)Aag>Cag	p.K245Q	ARR3_ENST00000307959.8_Missense_Mutation_p.K245Q			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	245					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCACTAGACAAGTACACCAA	0.507000													4	24					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9065227	9065227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:9065227C>T	ENST00000397910.4	-	3	22422	c.22219G>A	c.(22219-22221)Gtt>Att	p.V7407I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7409	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAGAAACAGGAGAAGGT	0.527000													5	38					0	0	0.000602	0	0
TNFRSF8	943	broad.mit.edu	37	1	12171958	12171958	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:12171958T>A	ENST00000263932.2	+	7	902	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.L116Q	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	227					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGGTCTGTCCCCAACA	0.652000													4	29					0	0	0.000248	0	0
INPP4B	8821	broad.mit.edu	37	4	143081599	143081599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:143081599G>A	ENST00000513000.1	-	18	1908	c.1475C>T	c.(1474-1476)aCa>aTa	p.T492I	INPP4B_ENST00000262992.4_Missense_Mutation_p.T492I|INPP4B_ENST00000508116.1_Missense_Mutation_p.T492I|INPP4B_ENST00000308502.4_Missense_Mutation_p.T492I|INPP4B_ENST00000509777.1_Missense_Mutation_p.T492I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	492					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCTCTCCTCTGTGCTGCTCTT	0.512000													23	62					0	0	0.002780	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735131	31735131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:31735131C>A	ENST00000342032.3	+	3	759	c.131C>A	c.(130-132)cCt>cAt	p.P44H	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	44					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAAAAGAAGCCTAGAAAGGGA	0.388000													17	97					3.41278e-10	5.87316e-10	0.004990	1	0
PSME4	23198	broad.mit.edu	37	2	54155333	54155333	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:54155333G>A	ENST00000404125.1	-	11	1479	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	475					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGACCTTCAGGAAACCATCT	0.438000													9	46					0	0	0.004482	0	0
EVC	2121	broad.mit.edu	37	4	5811337	5811337	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:5811337A>T	ENST00000382674.2	+	19	2965	c.2782_splice	c.e19+1	p.L927_splice	EVC_ENST00000264956.6_Splice_Site_p.L927_splice			P57679	EVC_HUMAN	Ellis van Creveld syndrome	927					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGGCTGCTAGGTGAGTCAc	0.542000													8	20					0	0	0.004482	0	0
NMNAT1	64802	broad.mit.edu	37	1	10035808	10035808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:10035808T>A	ENST00000377205.1	+	3	418	c.274T>A	c.(274-276)Tgg>Agg	p.W92R	NMNAT1_ENST00000403197.1_Missense_Mutation_p.W92R	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	92					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGAAGGAGTGGAAAGAGAC	0.418000													25	93					0	0	0.006320	0	0
C20orf85	128602	broad.mit.edu	37	20	56728654	56728654	+	Nonsense_Mutation	SNP	G	G	A	rs61754558		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:56728654G>A	ENST00000371168.3	+	2	184	c.123G>A	c.(121-123)tgG>tgA	p.W41*		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	41										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CCCAGAACTGGGGGTTTTTAA	0.423000													8	87					0	0	0.004482	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939537	26939537	+	RNA	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:26939537C>A	ENST00000544033.1	+	0	5470					NR_026794.1																						GCTGCAGATTCTGTCAGTGCT	0.527000													19	91					7.41877e-09	1.22451e-08	0.001882	1	0
OR13C2	392376	broad.mit.edu	37	9	107367901	107367901	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:107367901C>G	ENST00000542196.1	-	1	50	c.8G>C	c.(7-9)tGg>tCg	p.W3S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTGGTTTTCCCATTCCATTTT	0.343000													16	75					0	0	0.004990	0	0
OR1N2	138882	broad.mit.edu	37	9	125315565	125315565	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:125315565G>A	ENST00000373688.2	+	1	175	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGTGGCCAGAGGAGCAGCCTC	0.537000													12	70					0	0	0.000978	0	0
RBPJL	11317	broad.mit.edu	37	20	43944983	43944983	+	Splice_Site	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:43944983G>A	ENST00000343694.3	+	10	1248		c.e10+1		RBPJL_ENST00000372743.1_Splice_Site|RBPJL_ENST00000372741.3_Splice_Site|RBPJL_ENST00000464504.1_Splice_Site	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CACCCTAGAGGTGAAGCCGGG	0.657000													4	21					0	0	0.000602	0	0
POU6F2	11281	broad.mit.edu	37	7	39472855	39472855	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:39472855G>T	ENST00000518318.2	+	7	1248	c.1206G>T	c.(1204-1206)acG>acT	p.T402T	POU6F2_ENST00000403058.1_Silent_p.T402T|POU6F2_ENST00000559001.1_Silent_p.T347T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	402	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGCATCACGCTGTCACCCA	0.582000													8	44					1.12685e-05	1.61916e-05	0.004482	1	0
DRP2	1821	broad.mit.edu	37	X	100486680	100486680	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:100486680G>T	ENST00000395209.3	+	3	571	c.44G>T	c.(43-45)cGa>cTa	p.R15L	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000538510.1_Missense_Mutation_p.R15L|DRP2_ENST00000402866.1_Missense_Mutation_p.R15L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	15					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.R12Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTCCCACGATGTCATGAC	0.527000													27	130					3.73148e-12	6.84618e-12	0.007291	1	0
TMEM63A	9725	broad.mit.edu	37	1	226034860	226034860	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:226034860G>C	ENST00000366835.3	-	24	2575	c.2305C>G	c.(2305-2307)Ccg>Gcg	p.P769A		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	769						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGCTGCTGCGGAGACAGTGCT	0.607000													5	89					0	0	0.001984	0	0
XBP1	7494	broad.mit.edu	37	22	29191699	29191699	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:29191699G>A	ENST00000216037.6	-	5	693	c.621C>T	c.(619-621)ttC>ttT	p.F207F	XBP1_ENST00000405219.3_Silent_p.F157F|XBP1_ENST00000403532.3_Silent_p.F212F|XBP1_ENST00000344347.5_Silent_p.L199L	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	207					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AAGTTGTCCAGAATGCCCAAC	0.468000													8	80					0	0	0.004482	0	0
TMEM25	84866	broad.mit.edu	37	11	118403871	118403871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:118403871G>T	ENST00000524725.1	+	3	1034	c.622G>T	c.(622-624)Gtg>Ttg	p.V208L	TMEM25_ENST00000533102.1_Missense_Mutation_p.V208L|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000411589.2_Missense_Mutation_p.V208L|TMEM25_ENST00000442938.2_Missense_Mutation_p.V208L|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000354064.7_Missense_Mutation_p.V104L|TMEM25_ENST00000359862.4_Missense_Mutation_p.V208L|TMEM25_ENST00000354284.4_Missense_Mutation_p.V208L|TMEM25_ENST00000313236.5_Missense_Mutation_p.V208L			Q86YD3	TMM25_HUMAN	transmembrane protein 25	208						extracellular region|integral to membrane|plasma membrane		p.V208L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAACCTCTCGGTGGTGGCCAC	0.637000													3	16					6.4e-05	8.88196e-05	0.004672	1	0
MMD2	221938	broad.mit.edu	37	7	4965105	4965105	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:4965105C>G	ENST00000404774.3	-	2	300	c.106G>C	c.(106-108)Gcg>Ccg	p.A36P	MMD2_ENST00000406755.1_Missense_Mutation_p.A36P|MMD2_ENST00000401401.3_Missense_Mutation_p.A36P	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	36						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CAGTTGGCCGCATGTTCATAC	0.602000													18	95					0	0	0.008871	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763854	14763854	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:14763854G>A	ENST00000358984.4	+	7	1170	c.990G>A	c.(988-990)caG>caA	p.Q330Q	ANKRD30B_ENST00000447268.2_Silent_p.Q330Q|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	330										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGTTTGAACAGTCAACAGAAG	0.438000													4	20					0	0	0.000248	0	0
CSMD3	114788	broad.mit.edu	37	8	113358372	113358372	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:113358372G>T	ENST00000297405.5	-	41	6640	c.6396C>A	c.(6394-6396)ccC>ccA	p.P2132P	CSMD3_ENST00000455883.2_Silent_p.P2028P|CSMD3_ENST00000352409.3_Silent_p.P2062P|CSMD3_ENST00000343508.3_Silent_p.P2092P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2132	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAAACTGCTGGGATAGTTTC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	83					6.40141e-05	8.88196e-05	0.000978	1	0
ANO1	55107	broad.mit.edu	37	11	70013415	70013415	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:70013415G>T	ENST00000355303.5	+	21	2424	c.2119G>T	c.(2119-2121)Gtg>Ttg	p.V707L	ANO1_ENST00000538023.1_Missense_Mutation_p.V707L|ANO1_ENST00000531349.1_Missense_Mutation_p.V416L|ANO1_ENST00000530676.1_Missense_Mutation_p.V561L|ANO1_ENST00000398543.2_Missense_Mutation_p.V561L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	707					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGAGGAGTGTGTGAAGAGGAA	0.562000													11	37					4.68919e-08	7.46237e-08	0.008291	1	0
DEFB119	245932	broad.mit.edu	37	20	29978253	29978253	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:29978253G>A	ENST00000339144.3	-	1	140	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	DEFB119_ENST00000376321.3_Silent_p.L12L|DEFB119_ENST00000376315.2_Silent_p.L12L|DEFB119_ENST00000492344.1_5'UTR			Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTATGGCCAGAAGGATGGCA	0.547000													6	119					0	0	0.001168	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959387	117959387	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:117959387C>A	ENST00000310164.2	+	4	687	c.180C>A	c.(178-180)acC>acA	p.T60T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	60					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						gggaagaaacctttgaaaact	0.537000													13	67					4.3838e-07	6.75836e-07	0.001855	1	0
ELAVL1	1994	broad.mit.edu	37	19	8056613	8056613	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:8056613C>G	ENST00000407627.2	-	2	216	c.87G>C	c.(85-87)caG>caC	p.Q29H	ELAVL1_ENST00000593807.1_Missense_Mutation_p.Q29H|ELAVL1_ENST00000351593.5_Missense_Mutation_p.Q56H|ELAVL1_ENST00000596459.1_Missense_Mutation_p.Q29H	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	29	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGTCATGTTCTGAGGGAGGT	0.438000													5	91					0	0	0.000602	0	0
NLRP14	338323	broad.mit.edu	37	11	7071070	7071070	+	Splice_Site	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:7071070G>T	ENST00000299481.4	+	6	2637		c.e6+1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGACTCTCAGGTAAGCTTTGA	0.398000													21	163					1.10513e-12	2.0445e-12	0.002299	1	0
DDX58	23586	broad.mit.edu	37	9	32466353	32466353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:32466353C>G	ENST00000379882.1	-	15	2294	c.2137G>C	c.(2137-2139)Gaa>Caa	p.E713Q	DDX58_ENST00000542096.1_Missense_Mutation_p.E687Q|DDX58_ENST00000379883.2_Missense_Mutation_p.E758Q|DDX58_ENST00000379868.1_Missense_Mutation_p.E555Q			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	758	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.E758*(1)|p.E758K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATCATTTTTTCTTTGTACATG	0.368000													6	115					0	0	0.001168	0	0
ADD1	118	broad.mit.edu	37	4	2883715	2883715	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:2883715G>T	ENST00000355842.3	+	4	1149	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	ADD1_ENST00000398123.2_Missense_Mutation_p.D96Y|ADD1_ENST00000398125.1_Missense_Mutation_p.D96Y|ADD1_ENST00000398129.1_Missense_Mutation_p.D96Y|ADD1_ENST00000264758.7_Missense_Mutation_p.D96Y|ADD1_ENST00000446856.1_Missense_Mutation_p.D96Y|ADD1_ENST00000503455.2_Missense_Mutation_p.D96Y|ADD1_ENST00000513328.2_Missense_Mutation_p.D96Y			P35611	ADDA_HUMAN	adducin 1 (alpha)	96					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.D96Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGATTGCAGATTTTATGAC	0.413000													21	103					7.41877e-09	1.22451e-08	0.001882	1	0
PLXNA4	91584	broad.mit.edu	37	7	131982937	131982937	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:131982937C>T	ENST00000359827.3	-	4	2378	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	PLXNA4_ENST00000321063.4_Silent_p.T472T			Q9HCM2	PLXA4_HUMAN	plexin A4	472	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCTGCACCGTCTCATACT	0.597000													6	63					0	0	0.001984	0	0
FGF23	8074	broad.mit.edu	37	12	4488550	4488550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:4488550G>C	ENST00000237837.1	-	1	344	c.199C>G	c.(199-201)Cag>Gag	p.Q67E		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGATGGTCTGATGGGGTGCG	0.587000													4	95					0	0	0.000602	0	0
GPR156	165829	broad.mit.edu	37	3	119887088	119887088	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:119887088C>A	ENST00000464295.1	-	10	1681	c.1236G>T	c.(1234-1236)gcG>gcT	p.A412A	GPR156_ENST00000315843.3_Silent_p.A412A|GPR156_ENST00000461057.1_Silent_p.A408A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	412						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCGAGGCTACCGCCTGGACGT	0.612000													8	37					5.4927e-09	9.20287e-09	0.004482	1	0
CORO1C	23603	broad.mit.edu	37	12	109046107	109046107	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:109046107C>G	ENST00000261401.3	-	8	1114	c.942G>C	c.(940-942)caG>caC	p.Q314H	CORO1C_ENST00000549772.1_Missense_Mutation_p.Q320H|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.Q314H|CORO1C_ENST00000421578.2_Missense_Mutation_p.Q209H|CORO1C_ENST00000420959.2_Missense_Mutation_p.Q367H	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	314					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCATCCCTCTCTGAGGCTCCT	0.463000													11	116					0	0	0.001855	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411763	79411763	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:79411763C>T	ENST00000307745.7	+	12	2582	c.2582C>T	c.(2581-2583)cCc>cTc	p.P861L																								GGCCCTGTGCCCTCTGTCTTC	0.716000													7	38					0	0	0.004482	0	0
BTNL2	56244	broad.mit.edu	37	6	32363933	32363933	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:32363933C>T	ENST00000454136.3	-	5	965	c.961G>A	c.(961-963)Gag>Aag	p.E321K	BTNL2_ENST00000374993.1_Missense_Mutation_p.E321K|BTNL2_ENST00000544175.1_Missense_Mutation_p.E44K|BTNL2_ENST00000540315.1_Missense_Mutation_p.E111K|BTNL2_ENST00000414363.1_Missense_Mutation_p.E111K|BTNL2_ENST00000429232.2_Missense_Mutation_p.E228K|BTNL2_ENST00000374995.3_Missense_Mutation_p.E227K			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	321	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGTCTGCCCTCGTCAATGGCG	0.542000													4	53					0	0	0.000248	0	0
TBC1D23	55773	broad.mit.edu	37	3	100025388	100025388	+	Splice_Site	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:100025388G>A	ENST00000394144.4	+	13	1420		c.e13+1		TBC1D23_ENST00000344949.5_Splice_Site|TBC1D23_ENST00000475134.1_Splice_Site|TBC1D23_ENST00000486274.1_Splice_Site	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TTCTGTTGATGTAAGTATATG	0.408000													4	37					0	0	0.000248	0	0
VPS41	27072	broad.mit.edu	37	7	38785207	38785207	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:38785207C>T	ENST00000310301.4	-	23	1987	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	VPS41_ENST00000395969.2_Missense_Mutation_p.E620K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	645					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGACAGATCTCAAGAGCCTTC	0.323000													7	144					0	0	0.001984	0	0
MRPS35	60488	broad.mit.edu	37	12	27908252	27908252	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:27908252G>A	ENST00000081029.3	+	8	912	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	281					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AATAAATAAAGAAGAGCTCCT	0.333000													7	104					0	0	0.003080	0	0
SLIT1	6585	broad.mit.edu	37	10	98778853	98778853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:98778853G>T	ENST00000266058.4	-	27	3003	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L920M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	920					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACAGCCAGCGTTGGAGGA	0.657000													9	30					0.000442599	0.000588366	0.006214	1	0
MCM10	55388	broad.mit.edu	37	10	13234496	13234496	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:13234496C>T	ENST00000378694.1	+	12	1748	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	MCM10_ENST00000484800.2_Missense_Mutation_p.S559L|MCM10_ENST00000378714.3_Missense_Mutation_p.S558L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	559					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ATCTCGGCCTCAGCACTCTTG	0.527000													8	53					0	0	0.003080	0	0
RAB28	9364	broad.mit.edu	37	4	13371561	13371561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:13371561T>A	ENST00000288723.4	-	7	816	c.602A>T	c.(601-603)tAc>tTc	p.Y201F	RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	201					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTCTTCCGGGTACTTCACTAT	0.343000													9	92					0	0	0.006214	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070188	70070188	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:70070188C>A	ENST00000446444.1	-	5	1278	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	424					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCAGCAGGTCTGTACTCGAC	0.413000													22	160					1.64293e-13	3.0779e-13	0.003330	1	0
DOCK4	9732	broad.mit.edu	37	7	111368367	111368367	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:111368367C>A	ENST00000428084.1	-	53	6163	c.5891G>T	c.(5890-5892)cGg>cTg	p.R1964L	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1955L|DOCK4_ENST00000494651.2_Missense_Mutation_p.R838L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1955					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGCCTGGGCCGCGGGCCGGG	0.612000													9	22					4.68919e-08	7.46237e-08	0.008291	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455257	84455257	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:84455257A>T	ENST00000377084.2	-	1	1271	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	129						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGATCGTCCAGCCCCAGAAA	0.468000													29	77					0	0	0.002096	0	0
BRD2	6046	broad.mit.edu	37	6	32942508	32942508	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:32942508G>T	ENST00000395289.2	+	3	1900	c.299G>T	c.(298-300)cGg>cTg	p.R100L	BRD2_ENST00000374825.4_Missense_Mutation_p.R100L|BRD2_ENST00000449085.2_Missense_Mutation_p.R53L|BRD2_ENST00000395287.1_Missense_Mutation_p.R100L|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Missense_Mutation_p.R100L			P25440	BRD2_HUMAN	bromodomain containing 2	100	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGGCCATTCCGGCAGCCTGTG	0.537000													4	36					0.00024832	0.000334103	0.000248	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328754	88328754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:88328754C>T	ENST00000325089.6	+	2	1330	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P130S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	371	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCCCGGTGCCTTTGGAGTG	0.587000													6	71					0	0	0.001984	0	0
KIAA1109	84162	broad.mit.edu	37	4	123168473	123168473	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:123168473C>G	ENST00000264501.4	+	35	5846	c.5473C>G	c.(5473-5475)Cat>Gat	p.H1825D	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H1825D|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H1825D			Q2LD37	K1109_HUMAN	KIAA1109	1825					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTAAACATTCATCGAGTTCA	0.383000													6	81					0	0	0.003080	0	0
AKAP9	10142	broad.mit.edu	37	7	91724458	91724458	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:91724458A>T	ENST00000359028.2	+	40	9937	c.9712A>T	c.(9712-9714)Agt>Tgt	p.S3238C	AKAP9_ENST00000358100.2_Missense_Mutation_p.S3184C|AKAP9_ENST00000356239.3_Missense_Mutation_p.S3234C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3238					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTGGGACGCAGTGAAGAACG	0.403000			T	BRAF	papillary thyroid								11	38					0	0	0.002450	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	rs151117992	by1000genomes	TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632000													4	67					0	0	0.000602	0	0
SEMA6A	57556	broad.mit.edu	37	5	115803377	115803377	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:115803377G>T	ENST00000343348.6	-	18	2583	c.1796C>A	c.(1795-1797)tCt>tAt	p.S599Y	SEMA6A_ENST00000257414.8_Missense_Mutation_p.S616Y|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S26Y|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S599Y	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	599					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCCTCCCCTAGACTCATACCC	0.502000													7	23					1.06961e-07	1.69006e-07	0.003080	1	0
ANKRD26	22852	broad.mit.edu	37	10	27326211	27326211	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:27326211T>C	ENST00000376087.4	-	23	2766	c.2601A>G	c.(2599-2601)cgA>cgG	p.R867R	ANKRD26_ENST00000436985.2_Silent_p.R883R|ANKRD26_ENST00000376070.3_Silent_p.R424R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	866						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTCTGTTCTCGAGAAAGTT	0.363000													19	124					0	0	0.001523	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530240	80530240	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:80530240C>A	ENST00000295057.3	-	2	1361	c.705G>T	c.(703-705)ctG>ctT	p.L235L	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L235L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	235						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGAGCGAGTGCAGGGAGATGA	0.582000										HNSCC(69;0.2)			5	73					0.000602214	0.000786421	0.000602	1	0
ZNF266	10781	broad.mit.edu	37	19	9524671	9524671	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:9524671T>A	ENST00000592904.1	-	5	3006	c.930A>T	c.(928-930)caA>caT	p.Q310H	ZNF266_ENST00000361151.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000361451.2_Missense_Mutation_p.Q310H|ZNF266_ENST00000588933.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000592292.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000590306.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000588221.1_Missense_Mutation_p.Q310H			Q14584	ZN266_HUMAN	zinc finger protein 266	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GTTCAGTAAGTTGAGAAGATC	0.383000													17	110					0	0	0.006122	0	0
HSH2D	84941	broad.mit.edu	37	19	16268375	16268375	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:16268375C>T	ENST00000593154.2	+	8	1361	c.830C>T	c.(829-831)cCc>cTc	p.P277L	HSH2D_ENST00000397372.4_Missense_Mutation_p.P187S|HSH2D_ENST00000253680.6_Missense_Mutation_p.P277S|HSH2D_ENST00000588246.1_Missense_Mutation_p.P277L	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	345						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						TCTCAAAAGCCCCTCACAGCC	0.617000													11	31					0	0	0.008291	0	0
INTS2	57508	broad.mit.edu	37	17	59988990	59988990	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:59988990G>C	ENST00000444766.3	-	7	944	c.869C>G	c.(868-870)gCt>gGt	p.A290G	INTS2_ENST00000251334.6_Missense_Mutation_p.A282G	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	290					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATCCTCACAAGCTTCATTTTT	0.408000													4	19					0	0	0.000248	0	0
RGAG1	57529	broad.mit.edu	37	X	109695632	109695632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:109695632C>A	ENST00000465301.2	+	3	2033	c.1787C>A	c.(1786-1788)aCa>aAa	p.T596K	RGAG1_ENST00000540313.1_Missense_Mutation_p.T596K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	596										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGAGAGACACAGCCTCAGGA	0.507000													13	83					5.50884e-06	8.07236e-06	0.001368	1	0
PCGF1	84759	broad.mit.edu	37	2	74734264	74734264	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:74734264C>G	ENST00000233630.6	-	2	1015	c.104G>C	c.(103-105)cGa>cCa	p.R35P	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	35	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GATCTTCACTCGAACCTCCTC	0.532000													3	28					0	0	0.004672	0	0
GPR149	344758	broad.mit.edu	37	3	154147231	154147231	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:154147231C>A	ENST00000389740.2	-	1	273	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCATTTTCAGCAGGGAAATTA	0.443000													7	65					0.00198382	0.00252383	0.001984	1	0
NRXN3	9369	broad.mit.edu	37	14	79181127	79181127	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:79181127G>A	ENST00000554719.1	+	5	1061	c.570G>A	c.(568-570)acG>acA	p.T190T	NRXN3_ENST00000335750.5_Silent_p.T190T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	196	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGGCGCACGCCATTCACCG	0.562000													32	150					0	0	0.002836	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209136	193209136	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:193209136C>G	ENST00000342695.4	-	6	907	c.585G>C	c.(583-585)tgG>tgC	p.W195C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.W195C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.W195C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGAGCAGTTTCCAAATTGGTG	0.348000													7	70					0	0	0.001984	0	0
HMMR	3161	broad.mit.edu	37	5	162911108	162911108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:162911108G>T	ENST00000416990.2	+	16	1971	c.1474G>T	c.(1474-1476)Gca>Tca	p.A492S	HMMR_ENST00000358715.3_Missense_Mutation_p.A606S|HMMR_ENST00000353866.3_Missense_Mutation_p.A591S|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.A607S|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.A520S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	606						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AGAAAAACAGGCATTGTTGAA	0.289000													7	48					0.000157383	0.000213043	0.003080	1	0
DDX4	54514	broad.mit.edu	37	5	55082457	55082457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:55082457C>T	ENST00000505374.1	+	14	1068	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	326	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTGCAGGACGAGATTTGAT	0.413000													9	106					0	0	0.004482	0	0
OR6T1	219874	broad.mit.edu	37	11	123814338	123814338	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:123814338C>G	ENST00000321252.2	-	1	242	c.208G>C	c.(208-210)Gag>Cag	p.E70Q		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCAACAGCTCCAGGAAGGAG	0.498000													18	63					0	0	0.006122	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982338	9982338	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:9982338T>C	ENST00000506583.1	-	7	689	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	SLC2A9_ENST00000264784.3_Missense_Mutation_p.M187V|SLC2A9_ENST00000309065.3_Missense_Mutation_p.M158V			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	187					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTAAGGTACATGGGGAGCACA	0.557000													14	33					0	0	0.002450	0	0
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:108547831G>A	ENST00000526794.1	+	4	430	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000322536.3_Missense_Mutation_p.R133H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453000			T	NUP98	AML*								14	64					0	0	0.002450	0	0
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:26881626G>C	ENST00000231021.4	-	12	2161	c.1989C>G	c.(1987-1989)ggC>ggG	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438000													21	154					0	0	0.002780	0	0
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	A	rs57374291		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:89692835G>A	ENST00000371953.3	+	5	1676	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			16	116					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179423171	179423171	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:179423171C>G	ENST00000589042.1	-	327	87239	c.87015G>C	c.(87013-87015)ctG>ctC	p.L29005L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.L27364L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.L20132L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.L20065L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L19940L|TTN_ENST00000342992.6_Silent_p.L26437L|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27364	Fibronectin type-III 111.						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)			AATTCTCTCTCAGACCGGAAA	0.438000													6	36					0	0	0.001984	0	0
LAYN	143903	broad.mit.edu	37	11	111431089	111431089	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:111431089G>A	ENST00000436913.2	+	6	997	c.596G>A	c.(595-597)gGa>gAa	p.G199E	LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.G344E|LAYN_ENST00000375615.3_Missense_Mutation_p.G352E|LAYN_ENST00000525126.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	352						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTGGAGAGTGGATTTGTGACC	0.463000													7	82					0	0	0.003080	0	0
PRKCB	5579	broad.mit.edu	37	16	24166071	24166071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:24166071G>A	ENST00000303531.7	+	10	1284	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	PRKCB_ENST00000321728.7_Missense_Mutation_p.V378M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	378	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGGACGTTGTGATCCAAGA	0.547000													7	39					0	0	0.003080	0	0
POTEH	23784	broad.mit.edu	37	22	16267022	16267022	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:16267022G>T	ENST00000343518.6	-	9	1478	c.1427C>A	c.(1426-1428)gCt>gAt	p.A476D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	476										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCATTGTCAGCAGTGGCACC	0.413000													27	412					8.58068e-18	1.66368e-17	0.007291	1	0
WDR44	54521	broad.mit.edu	37	X	117566802	117566802	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:117566802C>A	ENST00000254029.3	+	13	2191	c.1796C>A	c.(1795-1797)cCa>cAa	p.P599Q	WDR44_ENST00000371825.3_Missense_Mutation_p.P599Q|WDR44_ENST00000371822.5_Missense_Mutation_p.P574Q	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	599						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CGGCAACGGCCATTTTGCAAA	0.348000													38	146					1.22674e-20	2.41006e-20	0.008740	1	0
FGF5	2250	broad.mit.edu	37	4	81188179	81188179	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:81188179G>A	ENST00000456523.3	+	1	387	c.201G>A	c.(199-201)ctG>ctA	p.L67L	FGF5_ENST00000312465.7_Silent_p.L67L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	67					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CAGCTTCTCTGGGCAGCCAAG	0.627000													11	74					0	0	0.000978	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81154082	81154082	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:81154082T>A	ENST00000372336.3	-	3	748	c.562A>T	c.(562-564)Atg>Ttg	p.M188L	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.H128L|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	188							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TCCTGCCCCATGTTGGCCCAG	0.592000													10	92					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48411989	48411989	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:48411989T>C	ENST00000435803.1	+	33	11052	c.11028T>C	c.(11026-11028)aaT>aaC	p.N3676N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3676					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCAAGCTAATACAGCGGCCC	0.413000													35	112					0	0	0.003755	0	0
OR5H6	79295	broad.mit.edu	37	3	97983203	97983203	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:97983203G>T	ENST00000383696.2	+	1	116	c.75G>T	c.(73-75)ctG>ctT	p.L25L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAACATTGCTGACAGAGTTTG	0.393000													28	194					7.38237e-10	1.26555e-09	0.006320	1	0
ZNF528	84436	broad.mit.edu	37	19	52919325	52919325	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:52919325G>C	ENST00000360465.3	+	7	1646	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACTAGAGAGAGACCTTATGGA	0.398000													5	75					0	0	0.001168	0	0
APC	324	broad.mit.edu	37	5	112174586	112174586	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:112174586G>C	ENST00000457016.1	+	16	3675	c.3295G>C	c.(3295-3297)Gtt>Ctt	p.V1099L	APC_ENST00000257430.4_Missense_Mutation_p.V1099L|APC_ENST00000508376.2_Missense_Mutation_p.V1099L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1099	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAGGAATGTGTTTCTCCATA	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	62					0	0	0.005443	0	0
KCNT2	343450	broad.mit.edu	37	1	196205163	196205163	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:196205163G>T	ENST00000367433.5	-	26	3278	c.3177C>A	c.(3175-3177)atC>atA	p.I1059I	KCNT2_ENST00000294725.8_Silent_p.I1083I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.I1017I|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1083						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTTAATCAGGATGTAGGAGA	0.313000													32	178					1.414e-09	2.40543e-09	0.003755	1	0
MCM6	4175	broad.mit.edu	37	2	136626280	136626280	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:136626280G>C	ENST00000264156.2	-	4	576	c.516C>G	c.(514-516)ttC>ttG	p.F172L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	172					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTGTGTATTTGAACTGCTGTT	0.458000													10	107					0	0	0.001855	0	0
OR51L1	119682	broad.mit.edu	37	11	5021050	5021050	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:5021050G>T	ENST00000321543.1	+	1	838	c.838G>T	c.(838-840)Gac>Tac	p.D280Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATGGCAGACATCTACCT	0.458000													13	74					0.00316338	0.00401297	0.003163	1	0
EXO1	9156	broad.mit.edu	37	1	242048760	242048760	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:242048760G>T	ENST00000366548.3	+	15	2949	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	EXO1_ENST00000348581.5_Missense_Mutation_p.G786W|EXO1_ENST00000518483.1_Missense_Mutation_p.G786W	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	786	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAACAAGCCGGGGTTACAGAT	0.428000								Editing and processing nucleases					13	56					1.49906e-05	2.11296e-05	0.002450	1	0
GRK5	2869	broad.mit.edu	37	10	121212764	121212764	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:121212764G>A	ENST00000392870.2	+	15	1979	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	GRK5_ENST00000369108.3_Silent_p.L445L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	550					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGAAAGGGCTGCTCCAGAGAC	0.562000													9	85					0	0	0.008291	0	0
HSH2D	84941	broad.mit.edu	37	19	16268358	16268358	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:16268358C>G	ENST00000253680.6	+	9	1343	c.812C>G	c.(811-813)gCc>gGc	p.A271G	HSH2D_ENST00000593154.2_Silent_p.G271G|HSH2D_ENST00000397372.4_Missense_Mutation_p.A181G|HSH2D_ENST00000588246.1_Silent_p.G271G			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	271						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCCTGTGTGGCCACATCTCTC	0.607000													13	30					0	0	0.003163	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406028	105406028	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:105406028C>T	ENST00000333244.5	-	7	15879	c.15760G>A	c.(15760-15762)Gat>Aat	p.D5254N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D252N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5254						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTCTGCATCTGCCTCTGGG	0.517000													18	254					0	0	0.007413	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229215	124229215	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:124229215C>G	ENST00000330342.3	+	12	1646	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	466					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACACTGGCCTCATCTACAACG	0.532000													6	61					0	0	0.001168	0	0
ZFP28	140612	broad.mit.edu	37	19	57065506	57065506	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:57065506A>G	ENST00000301318.3	+	8	1423	c.1352A>G	c.(1351-1353)aAt>aGt	p.N451S	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TATAAATGTAATGAATGTGGG	0.428000													10	64					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139209815	139209815	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:139209815C>T	ENST00000395297.1	-	8	937	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	256										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGTGGAGACGGAGACCCCG	0.602000										HNSCC(54;0.14)			7	63					0	0	0.003080	0	0
ELAVL1	1994	broad.mit.edu	37	19	8056590	8056590	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:8056590C>T	ENST00000407627.2	-	2	239	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	ELAVL1_ENST00000593807.1_Missense_Mutation_p.R37Q|ELAVL1_ENST00000351593.5_Missense_Mutation_p.R64Q|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R37Q	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	37	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAACAGGCTTCGTAACTCATC	0.468000													10	109					0	0	0.000978	0	0
ENPP5	59084	broad.mit.edu	37	6	46135475	46135475	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:46135475C>A	ENST00000371383.2	-	3	785	c.525G>T	c.(523-525)acG>acT	p.T175T	ENPP5_ENST00000230565.3_Silent_p.T175T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	175						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GCTCTTTTGACGTAAACCATT	0.418000													9	87					1.12685e-05	1.61916e-05	0.004482	1	0
TSEN15	116461	broad.mit.edu	37	1	184041382	184041382	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:184041382A>C	ENST00000361641.1	+	4	524	c.445A>C	c.(445-447)Aca>Cca	p.T149P	TSEN15_ENST00000423085.2_Intron|TSEN15_ENST00000533373.1_Intron	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA processing	nucleolus	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						GTCTGATTCTACAATAGTCTA	0.388000													9	68					0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248059060	248059060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:248059060C>A	ENST00000537741.1	+	3	429	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	OR2W3_ENST00000360358.3_Missense_Mutation_p.P58T			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTCCACACCCCCATGTACTT	0.572000													20	137					5.26018e-13	9.77205e-13	0.001882	1	0
TLL2	7093	broad.mit.edu	37	10	98127859	98127859	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:98127859G>A	ENST00000357947.3	-	21	3259	c.3034C>T	c.(3034-3036)Cac>Tac	p.H1012Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	1012					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCTTCATGTGCAGGGCATCC	0.413000													15	49					0	0	0.002450	0	0
PSMD3	5709	broad.mit.edu	37	17	38151470	38151470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:38151470G>T	ENST00000264639.4	+	8	1312	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	PSMD3_ENST00000541736.1_Missense_Mutation_p.D242Y	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	380	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCAGGTCCTGGATCAGTTTGG	0.517000													21	200					1.2644e-06	1.90951e-06	0.001523	1	0
QRICH2	84074	broad.mit.edu	37	17	74274093	74274093	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:74274093G>A	ENST00000262765.5	-	15	4775	c.4596C>T	c.(4594-4596)tgC>tgT	p.C1532C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1532							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGAGCCCAGGCACTGGGCGT	0.627000													5	59					0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85446009	85446009	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:85446009G>C	ENST00000393217.2	+	7	794	c.733G>C	c.(733-735)Gag>Cag	p.E245Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	245	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTTGGAAAGAGAAATTTAA	0.254000													4	80					0	0	0.001168	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214651	3214651	+	RNA	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:3214651A>G	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ATGGCCTATGACCGCTACCTG	0.557000													9	34					0	0	0.004482	0	0
RPL10A	4736	broad.mit.edu	37	6	35438059	35438059	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:35438059C>G	ENST00000322203.6	+	5	441	c.414C>G	c.(412-414)ctC>ctG	p.L138L	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	138					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CTTCCCTGCTCACACACAACG	0.488000													4	53					0	0	0.000248	0	0
IFNLR1	163702	broad.mit.edu	37	1	24507323	24507323	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:24507323G>A	ENST00000327535.1	-	2	92	c.80C>T	c.(79-81)cCc>cTc	p.P27L	IFNLR1_ENST00000374421.3_Missense_Mutation_p.P27L|IFNLR1_ENST00000327575.2_Missense_Mutation_p.P27L|IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000374418.3_Missense_Mutation_p.P27L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CACATTCTGGGGAGGGGCCAG	0.607000													4	30					0	0	0.000248	0	0
PLEC	5339	broad.mit.edu	37	8	145003898	145003898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:145003898C>A	ENST00000322810.4	-	23	3419	c.3250G>T	c.(3250-3252)Gga>Tga	p.G1084*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.G915*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G947*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G974*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G925*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G951*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G933*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.G947*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1084	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTCGGGTCCGAAGCCGCCC	0.687000													8	7					0.000274275	0.00036791	0.004482	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060173	35060173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:35060173C>A	ENST00000373913.3	+	3	533	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P18Q|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P18Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P18Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	18					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCCTAGACCCACCCCACGAG	0.721000													4	49					3.59834e-05	5.03994e-05	0.001168	1	0
VEGFC	7424	broad.mit.edu	37	4	177648948	177648948	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:177648948C>A	ENST00000280193.2	-	3	951	c.536G>T	c.(535-537)aGc>aTc	p.S179I	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	179					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCTGAGGTAGCTCGTGCTGGT	0.512000													19	42					1.01871e-10	1.78074e-10	0.008871	1	0
SH2D4A	63898	broad.mit.edu	37	8	19218793	19218793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:19218793G>T	ENST00000265807.3	+	6	1085	c.674G>T	c.(673-675)aGc>aTc	p.S225I	SH2D4A_ENST00000519207.1_Missense_Mutation_p.S225I|SH2D4A_ENST00000518040.1_Missense_Mutation_p.S180I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	225						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATTTGTAAGAGCTGGAAAGAA	0.383000													5	30					1.06961e-07	1.69006e-07	0.003080	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697378	17697378	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:17697378G>C	ENST00000399080.2	-	1	2328	c.2305C>G	c.(2305-2307)Cag>Gag	p.Q769E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	769										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATGTCCCTGTTTTCTTTCC	0.338000													15	64					0	0	0.002450	0	0
WBP5	51186	broad.mit.edu	37	X	102612910	102612910	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:102612910T>A	ENST00000372661.3	+	3	609	c.298T>A	c.(298-300)Tac>Aac	p.Y100N	WBP5_ENST00000372656.3_Missense_Mutation_p.Y100N	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	100										breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AAaccatccttacccctattt	0.318000													14	55					0	0	0.001855	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827767	45827767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:45827767G>T	ENST00000314134.3	+	1	1811	c.415G>T	c.(415-417)Ggt>Tgt	p.G139C	SLC35C1_ENST00000442528.2_Missense_Mutation_p.G126C|SLC35C1_ENST00000456334.1_Missense_Mutation_p.G126C	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	139						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAAGTACGTCGGTGTGGCCTT	0.597000													13	42					1.5842e-08	2.60513e-08	0.001855	1	0
USP6NL	9712	broad.mit.edu	37	10	11505354	11505354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:11505354C>G	ENST00000379237.1	-	15	1967	c.1573G>C	c.(1573-1575)Gtg>Ctg	p.V525L	USP6NL_ENST00000277575.5_Missense_Mutation_p.V542L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	525						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACACCCGCACCTCGGCAGGA	0.622000													21	144					0	0	0.008871	0	0
ZNF548	147694	broad.mit.edu	37	19	57910517	57910517	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:57910517A>G	ENST00000366197.5	+	3	1112	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.K300E|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATGTGGGAAATTCTTTCG	0.448000													12	46					0	0	0.001855	0	0
PAK3	5063	broad.mit.edu	37	X	110439737	110439737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:110439737C>A	ENST00000519681.1	+	17	1781	c.1339C>A	c.(1339-1341)Cca>Aca	p.P447T	PAK3_ENST00000425146.1_Missense_Mutation_p.P426T|PAK3_ENST00000262836.4_Missense_Mutation_p.P441T|PAK3_ENST00000372007.4_Missense_Mutation_p.P426T|PAK3_ENST00000372010.1_Missense_Mutation_p.P441T|PAK3_ENST00000417227.1_Missense_Mutation_p.P447T|PAK3_ENST00000446737.1_Missense_Mutation_p.P426T|PAK3_ENST00000360648.4_Missense_Mutation_p.P462T|PAK3_ENST00000518291.1_Missense_Mutation_p.P462T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	441	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTGGGAACCCCATATTGGAT	0.458000										TSP Lung(19;0.15)			21	113					7.92952e-12	1.44291e-11	0.003954	1	0
FAM47C	442444	broad.mit.edu	37	X	37026939	37026939	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:37026939G>T	ENST00000358047.3	+	1	508	c.456G>T	c.(454-456)ccG>ccT	p.P152P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	152										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						TACTGAAACCGCTGGACCCTG	0.557000													9	46					3.09899e-07	4.82789e-07	0.004482	1	0
ZBTB3	79842	broad.mit.edu	37	11	62520142	62520142	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:62520142G>A	ENST00000394807.3	-	2	1270	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGCTCCTCCAGATGGGAAAGC	0.562000													5	59					0	0	0.001168	0	0
MARCH6	10299	broad.mit.edu	37	5	10382001	10382001	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:10382001T>A	ENST00000274140.5	+	4	412	c.280T>A	c.(280-282)Ttt>Att	p.F94I	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	94					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ACGATATTGGTTTCATTATAC	0.398000													30	161					0	0	0.002096	0	0
F8	2157	broad.mit.edu	37	X	154227864	154227864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:154227864C>G	ENST00000360256.4	-	2	355	c.155G>C	c.(154-156)aGa>aCa	p.R52T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	52	F5/8 type A 1.|Plastocyanin-like 1.				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)	TTTTGGCACTCTAGGAGGAAA	0.408000													13	184					0	0	0.001855	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912800	94912800	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:94912800G>T	ENST00000334708.3	-	3	849	c.785C>A	c.(784-786)aCc>aAc	p.T262N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	262					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGGAGGACGGTGCAAGCCAA	0.532000													13	104					9.05144e-12	1.64034e-11	0.001855	1	0
RXFP3	51289	broad.mit.edu	37	5	33937388	33937388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:33937388C>A	ENST00000330120.3	+	1	898	c.543C>A	c.(541-543)taC>taA	p.Y181*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	181						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGACGCGCTACCATTCGGTGG	0.642000													5	37					1.23904e-05	1.76325e-05	0.000602	1	0
HEATR1	55127	broad.mit.edu	37	1	236759177	236759177	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:236759177C>G	ENST00000366582.3	-	7	1026	c.912G>C	c.(910-912)ttG>ttC	p.L304F	HEATR1_ENST00000366581.2_Missense_Mutation_p.L304F|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	304					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAGCACTATCAAGCAACTTA	0.388000													4	63					0	0	0.000248	0	0
TNS4	84951	broad.mit.edu	37	17	38643371	38643371	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:38643371G>A	ENST00000254051.6	-	4	1363	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	402					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGAGAAGCAGCTCCAGGTTG	0.587000													73	175					0	0	0.003610	0	0
NCAM1	4684	broad.mit.edu	37	11	113102471	113102471	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:113102471C>T	ENST00000316851.7	+	9	1164	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.S270S|NCAM1_ENST00000401611.2_Silent_p.S397S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	398	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCACCGCCAGCAACACCATCG	0.587000													15	61					0	0	0.006122	0	0
TAB3	257397	broad.mit.edu	37	X	30872883	30872883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:30872883C>A	ENST00000378933.1	-	3	1076	c.899G>T	c.(898-900)tGt>tTt	p.C300F	TAB3_ENST00000378930.3_Missense_Mutation_p.C300F|TAB3_ENST00000288422.2_Missense_Mutation_p.C300F|TAB3_ENST00000378932.2_Missense_Mutation_p.C300F	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	300	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGGTGAAGGACATTGAGAAGG	0.493000													7	35					2.7689e-08	4.48682e-08	0.001984	1	0
SLC1A6	6511	broad.mit.edu	37	19	15072885	15072885	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:15072885C>T	ENST00000598504.1	-	8	2223	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SLC1A6_ENST00000221742.3_Silent_p.K288K|SLC1A6_ENST00000544886.2_Silent_p.K288K|SLC1A6_ENST00000430939.2_Silent_p.K224K|SLC1A6_ENST00000600144.1_Silent_p.K288K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	288					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGACTCTGCCCTTGTGTTTCA	0.577000													17	71					0	0	0.006122	0	0
MBNL3	55796	broad.mit.edu	37	X	131518705	131518705	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:131518705G>A	ENST00000394311.2	-	6	792	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MBNL3_ENST00000370844.1_Missense_Mutation_p.P219L|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000538204.1_Intron|MBNL3_ENST00000370853.3_Missense_Mutation_p.P315L|MBNL3_ENST00000370849.3_Missense_Mutation_p.P265L|MBNL3_ENST00000370857.3_Intron|MBNL3_ENST00000370839.3_Missense_Mutation_p.P280L|RP5-842K24.2_ENST00000421483.1_RNA	NM_001170703.1	NP_001164174.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	315					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					ATTTGAAGCGGGTGCCATGCA	0.323000													6	20					0	0	0.001168	0	0
AGAP2	116986	broad.mit.edu	37	12	58125342	58125342	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:58125342T>A	ENST00000257897.3	-	9	1114	c.1029A>T	c.(1027-1029)aaA>aaT	p.K343N	AGAP2_ENST00000547588.1_Missense_Mutation_p.K679N	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	679	Interaction with PLCG1 (By similarity).				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						CACTCACCTGTTTGATGGGGA	0.537000													12	59					0	0	0.000978	0	0
EIF3E	3646	broad.mit.edu	37	8	109240518	109240518	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:109240518C>A	ENST00000220849.5	-	7	762	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.D141Y	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	234					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGGAAGAGGTCAATAATATTA	0.353000													10	76					2.27111e-07	3.55061e-07	0.001368	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801013	185801013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:185801013A>T	ENST00000302277.6	+	4	1484	c.890A>T	c.(889-891)aAa>aTa	p.K297I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	297						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGAGATAAAAGAAGTCTCT	0.358000													10	45					0	0	0.006214	0	0
CXCR1	3577	broad.mit.edu	37	2	219029723	219029723	+	Missense_Mutation	SNP	C	C	T	rs147031882	byFrequency	TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:219029723C>T	ENST00000295683.2	-	2	332	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	71			R -> C (in dbSNP:rs1805038).		dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGTGACGGAGCGGCCGACCCT	0.562000													12	86					0	0	0.001855	0	0
TMEM135	65084	broad.mit.edu	37	11	87020658	87020658	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:87020658A>G	ENST00000340353.7	+	9	1016	c.814A>G	c.(814-816)Aat>Gat	p.N272D	TMEM135_ENST00000535167.1_Missense_Mutation_p.N155D|TMEM135_ENST00000532959.1_Missense_Mutation_p.N165D|TMEM135_ENST00000305494.5_Missense_Mutation_p.N294D	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	294						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTCTTCTACAATAAAGAAAA	0.398000													24	112					0	0	0.003330	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581868	84581868	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:84581868C>T	ENST00000286744.5	+	16	1949	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A	ADAMTSL3_ENST00000567476.1_Silent_p.A575A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	575	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGTCAGCCTGCAGTACCA	0.552000													6	60					0	0	0.003080	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948736	2948736	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:2948736G>A	ENST00000380520.1	-	6	2921	c.927C>T	c.(925-927)gaC>gaT	p.D309D	SERPINB6_ENST00000380546.3_Silent_p.D309D|SERPINB6_ENST00000380524.1_Silent_p.D309D|SERPINB6_ENST00000380539.1_Silent_p.D309D|SERPINB6_ENST00000380529.1_Silent_p.D309D|SERPINB6_ENST00000335686.5_Silent_p.D309D			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	309					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ACAGAGACAGGTCTGTCTGGG	0.562000													17	59					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	34					0	0	0.004482	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	40					0	0	0.000602	0	0
BUB1	699	broad.mit.edu	37	2	111411040	111411040	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:111411040A>G	ENST00000535254.1	-	16	1944	c.1877T>C	c.(1876-1878)gTg>gCg	p.V626A	BUB1_ENST00000409311.1_Missense_Mutation_p.V646A|BUB1_ENST00000302759.6_Missense_Mutation_p.V646A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	646					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAAGGCACCACCATGTTTTC	0.368000													12	62					0	0	0.003163	0	0
PAX7	5081	broad.mit.edu	37	1	19027165	19027165	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:19027165C>A	ENST00000420770.2	+	6	888	c.805C>A	c.(805-807)Cgc>Agc	p.R269S	PAX7_ENST00000400661.3_Missense_Mutation_p.R267S|PAX7_ENST00000375375.3_Missense_Mutation_p.R269S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	269					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CAGTAACCGCCGCGCCCGTTG	0.652000			T	FOXO1A	alveolar rhabdomyosarcoma								11	38					0.000978159	0.00125885	0.000978	1	0
KIAA1683	80726	broad.mit.edu	37	19	18375845	18375845	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:18375845C>T	ENST00000392413.3	-	3	2720	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P	KIAA1683_ENST00000600359.2_Silent_p.P789P|KIAA1683_ENST00000600328.2_Silent_p.P835P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	835			P -> L (in dbSNP:rs2277921).			mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGTGCCATCGGCGGCACCA	0.682000													7	60					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406952	105406952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:105406952G>T	ENST00000333244.5	-	7	14955	c.14836C>A	c.(14836-14838)Cac>Aac	p.H4946N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4946						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTTCGTGGTCAGCATCT	0.542000													10	29					0.000978159	0.00125885	0.000978	1	0
NT5DC1	221294	broad.mit.edu	37	6	116432047	116432047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:116432047G>T	ENST00000319550.4	+	4	374	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	98							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GACTCCAGAGGTGCTGGCAGA	0.507000													6	26					1.6384e-10	2.85274e-10	0.001984	1	0
POM121	9883	broad.mit.edu	37	7	72398960	72398960	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:72398960G>C	ENST00000395270.1	+	7	1306	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	POM121_ENST00000257622.4_Missense_Mutation_p.E89Q|POM121_ENST00000358357.3_Missense_Mutation_p.E89Q|POM121_ENST00000434423.2_Missense_Mutation_p.E354Q|POM121_ENST00000446813.1_Missense_Mutation_p.E89Q	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	354	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCATTTGAGCCCCTGGT	0.453000													21	234					0	0	0.001882	0	0
MYO18B	84700	broad.mit.edu	37	22	26423142	26423142	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:26423142A>G	ENST00000335473.7	+	43	7452	c.7202A>G	c.(7201-7203)aAg>aGg	p.K2401R	MYO18B_ENST00000536101.1_Missense_Mutation_p.K2401R|MYO18B_ENST00000407587.2_Missense_Mutation_p.K2402R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2401						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.K2402R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACCTTGGAAAGGAGCCGCTT	0.597000													7	54					0	0	0.003080	0	0
NXPH3	11248	broad.mit.edu	37	17	47656497	47656497	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:47656497C>T	ENST00000328741.5	+	2	956	c.594C>T	c.(592-594)atC>atT	p.I198I	NXPH3_ENST00000513748.1_Silent_p.I198I	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	198	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CAGCCAAGATCTGCTCCCGAG	0.602000													7	97					0	0	0.003080	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163743	12163743	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:12163743G>T	ENST00000379388.2	+	9	7538	c.7206G>T	c.(7204-7206)ggG>ggT	p.G2402G	HIVEP1_ENST00000541134.1_Silent_p.G267G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2402					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGTTGGGGGGATCCATG	0.542000													11	78					2.80697e-09	4.73877e-09	0.000978	1	0
IDO2	169355	broad.mit.edu	37	8	39871174	39871174	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr8:39871174G>C	ENST00000502986.2	+	10	1091	c.849G>C	c.(847-849)caG>caC	p.Q283H	IDO2_ENST00000389060.4_Missense_Mutation_p.Q270H|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	270					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTGCAGCTCAGAGCACAGTGC	0.488000													5	47					0	0	0.000602	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782420	62782420	+	Nonsense_Mutation	SNP	G	G	T	rs146789686		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:62782420G>T	ENST00000336232.2	-	2	146	c.11C>A	c.(10-12)tCg>tAg	p.S4*	SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.S4*|SLC22A8_ENST00000311438.8_Nonsense_Mutation_p.S4*|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	4					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGGATCTCCGAGAAGGTCAT	0.582000													17	55					5.01169e-05	6.99746e-05	0.004990	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609204	21609204	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:21609204G>T	ENST00000425654.2	+	14	2112	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E574D|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E574D|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E525D	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	574					regulation of signal transduction	cytoplasm|membrane	protein binding	p.E574D(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGACTGTGAGGGCTGGCTTT	0.393000													23	136					2.89027e-11	5.15373e-11	0.002299	1	0
PRKCZ	5590	broad.mit.edu	37	1	2082357	2082357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:2082357G>T	ENST00000400921.2	+	6	950	c.267G>T	c.(265-267)aaG>aaT	p.K89N	PRKCZ_ENST00000400920.1_Missense_Mutation_p.K89N|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	272	Interaction with SQSTM1 (By similarity).|OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCGGTTGAAGAAGAATGACC	0.557000													5	34					0.000602214	0.000786421	0.000602	1	0
OTOL1	131149	broad.mit.edu	37	3	161221673	161221673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:161221673C>A	ENST00000327928.4	+	4	1377	c.1377C>A	c.(1375-1377)gaC>gaA	p.D459E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	459	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTGAGGATGACAGCATTTTTA	0.428000													6	36					0.00448238	0.00565391	0.004482	1	0
SPTBN5	51332	broad.mit.edu	37	15	42160769	42160769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr15:42160769C>A	ENST00000320955.6	-	33	6111	c.5884G>T	c.(5884-5886)Gtg>Ttg	p.V1962L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1962					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)		TCCTGGCGCACGCGGGCTGCC	0.697000													6	32					8.12818e-05	0.000111731	0.001984	1	0
NLRP3	114548	broad.mit.edu	37	1	247587618	247587618	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:247587618G>C	ENST00000366497.2	+	4	1653	c.873G>C	c.(871-873)gtG>gtC	p.V291V	NLRP3_ENST00000348069.2_Silent_p.V291V|NLRP3_ENST00000336119.3_Silent_p.V291V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.V291V|NLRP3_ENST00000366496.2_Silent_p.V291V|NLRP3_ENST00000391827.2_Silent_p.V291V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAAGATCGTGAGAAAACCCT	0.567000													12	86					0	0	0.000978	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818967	200818967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:200818967G>T	ENST00000358823.2	+	11	3340	c.3070G>T	c.(3070-3072)Gat>Tat	p.D1024Y	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D1035Y|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1008Y	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1035						cytoplasm|microtubule	protein binding										ATGTTTTGGGGATGATGGAGA	0.433000													13	96					7.03913e-09	1.17495e-08	0.001368	1	0
PKHD1	5314	broad.mit.edu	37	6	51751952	51751952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:51751952T>A	ENST00000371117.3	-	44	7363	c.7088A>T	c.(7087-7089)aAc>aTc	p.N2363I	PKHD1_ENST00000340994.4_Missense_Mutation_p.N2363I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2363					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCAATGTTCTGAGTGAA	0.418000													13	66					0	0	0.003163	0	0
CDH23	64072	broad.mit.edu	37	10	73537642	73537642	+	Missense_Mutation	SNP	G	G	T	rs111033475		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:73537642G>T	ENST00000224721.6	+	38	5071	c.5066G>T	c.(5065-5067)cGc>cTc	p.R1689L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1684	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACACCTTCCGCATCGACAGA	0.567000													4	17					2.56e-06	3.81423e-06	0.000248	1	0
TAF1D	79101	broad.mit.edu	37	11	93469410	93469410	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:93469410C>T	ENST00000448108.2	-	6	1404	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GTAATATCCTCTTCTTCTAAG	0.363000													6	84					0	0	0.003080	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917607	46917607	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:46917607C>G	ENST00000429979.1	-	15	2506	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.Q634H|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S583T|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.Q477H|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S583T|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Q477H|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.Q499H|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Q567H	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	634										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACTGGAAGCACTGTTTGTGAA	0.527000													4	30					0	0	0.001168	0	0
ACBD5	91452	broad.mit.edu	37	10	27508745	27508745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:27508745C>A	ENST00000396271.3	-	6	658	c.532G>T	c.(532-534)Gtt>Ttt	p.V178F	ACBD5_ENST00000375905.4_Missense_Mutation_p.V143F|ACBD5_ENST00000375888.1_Missense_Mutation_p.V187F|ACBD5_ENST00000375901.1_Missense_Mutation_p.V69F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.V69F	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	187					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTACCATTAACGGTTTTGGCG	0.383000													14	88					0.000151284	0.000206044	0.001855	1	0
POTEC	388468	broad.mit.edu	37	18	14542680	14542680	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:14542680C>A	ENST00000358970.5	-	1	465	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	156								p.D156Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACGATGAGATCCTTTCTGGGG	0.582000													17	123					1.67942e-08	2.75151e-08	0.006122	1	0
OLFM4	10562	broad.mit.edu	37	13	53602981	53602981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:53602981G>T	ENST00000219022.2	+	1	88	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	4					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATGAGGCCCGGCCTCTCATT	0.582000													18	108					3.99206e-14	7.57467e-14	0.007413	1	0
OR4K1	79544	broad.mit.edu	37	14	20404272	20404272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:20404272G>T	ENST00000285600.4	+	1	506	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTATTTCCTGGGCGGTGGGCG	0.458000													10	73					0.000442599	0.000588366	0.006214	1	0
ZNF318	24149	broad.mit.edu	37	6	43323306	43323306	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:43323306T>A	ENST00000361428.2	-	4	1843	c.1766A>T	c.(1765-1767)tAt>tTt	p.Y589F	ZNF318_ENST00000318149.3_Missense_Mutation_p.Y589F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	589					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATCTTCGCATATTCTGGATT	0.493000													24	154					0	0	0.002780	0	0
TLR8	51311	broad.mit.edu	37	X	12938714	12938714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:12938714C>G	ENST00000218032.6	+	2	1642	c.1555C>G	c.(1555-1557)Caa>Gaa	p.Q519E	TLR8_ENST00000311912.5_Missense_Mutation_p.Q537E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	519					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGCAATGCTCAAGTGTTAAG	0.353000													5	49					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543159	133543159	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:133543159G>T	ENST00000409261.1	-	14	1598	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q409K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	409							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCGCTTCTGTAGCTTTCTT	0.403000													9	63					0.00621372	0.00779347	0.006214	1	0
IQCJ	654502	broad.mit.edu	37	3	158983034	158983034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:158983034C>A	ENST00000482126.1	+	4	346	c.241C>A	c.(241-243)Cct>Act	p.P81T	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.P108T|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAAGATTCATCCTTACATCTC	0.463000													14	108					1.52009e-12	2.8005e-12	0.003163	1	0
ALG9	79796	broad.mit.edu	37	11	111724370	111724370	+	Splice_Site	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:111724370A>G	ENST00000524880.1	-	11	1782		c.e11+1		ALG9_ENST00000531154.1_Splice_Site|ALG9_ENST00000398006.2_Splice_Site|ALG9_ENST00000527228.1_Splice_Site			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGAAAACTCACCAGAAATAG	0.368000													18	57					0	0	0.007413	0	0
TRRAP	8295	broad.mit.edu	37	7	98554089	98554089	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:98554089G>C	ENST00000359863.4	+	42	6352	c.6143G>C	c.(6142-6144)aGa>aCa	p.R2048T	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2030T|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2029T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2048	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCATTAAGAGAGGCCTGTCC	0.512000													11	93					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179477675	179477675	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:179477675C>T	ENST00000589042.1	-	265	49997	c.49773G>A	c.(49771-49773)ctG>ctA	p.L16591L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.L14950L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L7718L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L7651L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.L7526L|TTN_ENST00000342992.6_Silent_p.L14023L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14950	Fibronectin type-III 20.						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)			TTCCAGTCTTCAGCATTTCAA	0.468000													5	34					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179477662	179477662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:179477662C>G	ENST00000589042.1	-	265	50010	c.49786G>C	c.(49786-49788)Gat>Cat	p.D16596H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14955H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7723H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7656H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7531H|TTN_ENST00000342992.6_Missense_Mutation_p.D14028H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14955	Fibronectin type-III 20.						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)			ACCCACTCATCTGTTCCAGTC	0.473000													3	32					0	0	0.004672	0	0
DSC1	1823	broad.mit.edu	37	18	28734892	28734892	+	Splice_Site	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:28734892T>A	ENST00000257197.3	-	5	733	c.471_splice	c.e5-1	p.I158_splice	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Splice_Site_p.I158_splice	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	158	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCAGATTGGATCTGCAGTAAT	0.368000													5	56					0	0	0.001984	0	0
GRM5	2915	broad.mit.edu	37	11	88386449	88386449	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:88386449C>T	ENST00000418177.2	-	4	1401	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	GRM5_ENST00000455756.2_Missense_Mutation_p.R345Q|GRM5_ENST00000305432.5_Missense_Mutation_p.R345Q|GRM5_ENST00000305447.4_Missense_Mutation_p.R345Q|GRM5_ENST00000393297.1_Missense_Mutation_p.R345Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	345					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGTTTCTGGCCGGAGCTTCAG	0.463000													10	69					0	0	0.008291	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520804	62520804	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:62520804G>A	ENST00000394807.3	-	2	608	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ACACCTTGACGATGTCATTCA	0.557000													10	121					0	0	0.006214	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24471069	24471069	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:24471069T>C	ENST00000382137.3	-	1	125	c.57A>G	c.(55-57)tcA>tcG	p.S19S	C1QTNF9B_ENST00000382057.3_Silent_p.S19S|C1QTNF9B_ENST00000382140.2_Silent_p.S19S|C1QTNF9B_ENST00000382145.1_Silent_p.S19S|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	19						collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGTGTCCTGTGAGTTTATGT	0.532000													10	61					0	0	0.001368	0	0
ZNF77	58492	broad.mit.edu	37	19	2939382	2939382	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:2939382C>A	ENST00000314531.4	-	2	119	c.27G>T	c.(25-27)gtG>gtT	p.V9V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCACAGCCACTTCCTCAA	0.552000													8	73					1.58986e-06	2.3848e-06	0.008291	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187796	58187796	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:58187796G>T	ENST00000318203.5	+	3	980	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	95	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTATGATTGGTGGCCACTG	0.398000													13	62					4.3838e-07	6.75836e-07	0.001855	1	0
SRSF6	6431	broad.mit.edu	37	20	42089452	42089452	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr20:42089452C>G	ENST00000244020.3	+	6	890	c.784C>G	c.(784-786)Cga>Gga	p.R262G		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	262	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCACATTCTCGAAGCAGATC	0.458000													4	31					0	0	0.000248	0	0
GRM2	2912	broad.mit.edu	37	3	51749622	51749622	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:51749622T>A	ENST00000395052.3	+	4	2067	c.1833T>A	c.(1831-1833)ggT>ggA	p.G611G	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	611					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGCTGGGTGGTGTCTTCC	0.577000													16	79					0	0	0.003163	0	0
CEP41	95681	broad.mit.edu	37	7	130040584	130040584	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:130040584C>G	ENST00000223208.4	-	9	991	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CEP41_ENST00000541543.1_Missense_Mutation_p.E225Q|CEP41_ENST00000343969.5_Missense_Mutation_p.E241Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	241	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											AATCCACGCTCGCACATGGTG	0.498000													5	22					0	0	0.001168	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928640	10928640	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:10928640A>T	ENST00000283141.6	+	18	1741	c.1445A>T	c.(1444-1446)cAg>cTg	p.Q482L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	482						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccatagcttcagccggtccct	0.453000													7	40					0	0	0.001984	0	0
FST	10468	broad.mit.edu	37	5	52781838	52781838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr5:52781838C>T	ENST00000256759.3	+	6	1393	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	337					hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TACAGCTTTCCTATATCTTCT	0.378000													16	112					0	0	0.007413	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158681	48158681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:48158681C>T	ENST00000418331.2	+	10	2352	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	667	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTGGAAATTCCAGCAACGCA	0.453000													10	126					0	0	0.000978	0	0
ESYT3	83850	broad.mit.edu	37	3	138183186	138183186	+	Splice_Site	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:138183186G>C	ENST00000389567.4	+	9	1101		c.e9-1			NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3							integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACATTTTCCAGGGGGTGATCA	0.572000													6	47					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237754046	237754046	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:237754046G>T	ENST00000366574.2	+	31	4231	c.3914G>T	c.(3913-3915)aGc>aTc	p.S1305I	RYR2_ENST00000360064.6_Missense_Mutation_p.S1303I|RYR2_ENST00000542537.1_Missense_Mutation_p.S1289I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1305	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCGCCTGAGCATGCCGATC	0.502000													21	145					1.96292e-10	3.40444e-10	0.001523	1	0
MAP3K4	4216	broad.mit.edu	37	6	161527737	161527737	+	Splice_Site	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:161527737G>T	ENST00000392142.4	+	20	4196	c.4048_splice	c.e20+1	p.G1350_splice	MAP3K4_ENST00000348824.7_Splice_Site_p.G1296_splice|MAP3K4_ENST00000366919.2_Splice_Site_p.G1300_splice|MAP3K4_ENST00000366920.2_Splice_Site_p.G1346_splice	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1350	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAACAAAATTGGTAAGGAAAT	0.378000													16	42					6.72482e-11	1.18485e-10	0.003163	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	27					0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38980305	38980305	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:38980305C>G	ENST00000359357.3	+	89	13209	c.12955C>G	c.(12955-12957)Ctg>Gtg	p.L4319V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4283V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGTCCACACTGGGCTTCTG	0.418000													7	173					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129609190	129609190	+	Silent	SNP	G	G	T	rs142671449		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:129609190G>T	ENST00000421865.2	+	19	2785	c.2736G>T	c.(2734-2736)gcG>gcT	p.A912A		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	912	Laminin EGF-like 8.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGTTGATGCGAAGAACTGTC	0.458000													31	63					3.1745e-13	5.92217e-13	0.008361	1	0
STT3A	3703	broad.mit.edu	37	11	125475572	125475572	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:125475572C>G	ENST00000392708.4	+	7	716	c.557C>G	c.(556-558)gCa>gGa	p.A186G	STT3A_ENST00000529196.1_Missense_Mutation_p.A186G|STT3A_ENST00000531491.1_Missense_Mutation_p.A94G	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	186					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGGATCAAGGCAGTAAAGACT	0.403000													24	123					0	0	0.003330	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	17					9.70103e-10	1.65664e-09	0.008291	1	0
RFT1	91869	broad.mit.edu	37	3	53145859	53145859	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr3:53145859C>T	ENST00000296292.3	-	7	823	c.762G>A	c.(760-762)caG>caA	p.Q254Q	RFT1_ENST00000394738.3_Silent_p.Q215Q	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	254					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTGTCAAAATCTGTTTCAAGA	0.408000													6	94					0	0	0.001168	0	0
ALPK2	115701	broad.mit.edu	37	18	56203730	56203730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr18:56203730C>A	ENST00000361673.3	-	5	3902	c.3689G>T	c.(3688-3690)tGg>tTg	p.W1230L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1230							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCCTGCCTCCCAATTTCCAGG	0.468000													19	128					4.35082e-09	7.31728e-09	0.001523	1	0
THSD7A	221981	broad.mit.edu	37	7	11675887	11675887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:11675887C>A	ENST00000423059.3	-	2	1143	c.892G>T	c.(892-894)Gag>Tag	p.E298*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	298						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTAATAAGCTCGCGGGCTTCT	0.458000										HNSCC(18;0.044)			19	126					2.35188e-11	4.22767e-11	0.006122	1	0
LOC81691	81691	broad.mit.edu	37	16	20838515	20838515	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr16:20838515G>A	ENST00000261377.6	+	9	1166	c.957G>A	c.(955-957)ctG>ctA	p.L319L	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.L319L|AC004381.6_ENST00000348433.6_Silent_p.L319L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TCAGAGCACTGAAAGTGAGTA	0.433000													9	126					0	0	0.008291	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591725	7591725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr19:7591725G>T	ENST00000264079.6	+	4	609	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	162					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAATGGCTCAGGGCTTGCTCT	0.617000													8	36					0.000673444	0.00087686	0.008291	1	0
ZNF777	27153	broad.mit.edu	37	7	149129311	149129311	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:149129311G>A	ENST00000247930.4	-	6	2375	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	684					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)			CCGCGTGCACGCGCTGATGGA	0.632000													7	85					0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155157032	155157032	+	Silent	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:155157032A>T	ENST00000357232.3	-	25	7406	c.7407T>A	c.(7405-7407)ccT>ccA	p.P2469P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2469	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAAAAGAAAGGAGATGAGG	0.368000													22	94					0	0	0.002780	0	0
TBR1	10716	broad.mit.edu	37	2	162280694	162280694	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:162280694G>A	ENST00000389554.3	+	6	2322	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.A382T	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	669						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAAGAACTGCGCCAAGGACAT	0.706000													4	9					0	0	0.000248	0	0
NAV3	89795	broad.mit.edu	37	12	78443841	78443841	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:78443841G>A	ENST00000397909.2	+	10	2265	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	NAV3_ENST00000228327.6_Missense_Mutation_p.E698K|NAV3_ENST00000536525.2_Missense_Mutation_p.E698K|NAV3_ENST00000266692.7_Missense_Mutation_p.E698K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	698						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAATTTAGAAGAGACTATGTC	0.333000										HNSCC(70;0.22)			9	47					0	0	0.000978	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111117	22111117	+	RNA	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:22111117A>C	ENST00000390423.2	+	0	9																											CACCCACATGAAGTGTCTACC	0.498000													3	19					0	0	0.004672	0	0
EYS	346007	broad.mit.edu	37	6	66054047	66054047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr6:66054047C>T	ENST00000503581.1	-	10	2020	c.1483G>A	c.(1483-1485)Ggg>Agg	p.G495R	EYS_ENST00000370616.2_Missense_Mutation_p.G495R|EYS_ENST00000370621.3_Missense_Mutation_p.G495R|EYS_ENST00000370618.3_Missense_Mutation_p.G495R|EYS_ENST00000342421.5_Missense_Mutation_p.G495R|EYS_ENST00000393380.2_Missense_Mutation_p.G495R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	495					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCAATAACCCCTTGGCACTTT	0.348000													7	58					0	0	0.001984	0	0
CUBN	8029	broad.mit.edu	37	10	16975228	16975228	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:16975228C>A	ENST00000377833.4	-	40	6047	c.5982G>T	c.(5980-5982)ccG>ccT	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507000													10	42					4.68919e-08	7.46237e-08	0.008291	1	0
HIPK2	28996	broad.mit.edu	37	7	139415871	139415871	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr7:139415871G>C	ENST00000406875.3	-	2	1057	c.963C>G	c.(961-963)atC>atG	p.I321M	HIPK2_ENST00000428878.2_Missense_Mutation_p.I321M|HIPK2_ENST00000342645.6_Missense_Mutation_p.I321M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	321	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTCAGCGTGGATAAGACCTA	0.493000													5	57					0	0	0.000602	0	0
AACS	65985	broad.mit.edu	37	12	125626718	125626718	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr12:125626718C>G	ENST00000545511.1	+	7	5485	c.498C>G	c.(496-498)ttC>ttG	p.F166L	AACS_ENST00000316519.6_Missense_Mutation_p.F654L|AACS_ENST00000316543.10_Missense_Mutation_p.F252L|AACS_ENST00000543665.1_Missense_Mutation_p.F86L|AACS_ENST00000261686.6_Missense_Mutation_p.L587V			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	654					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGGTGCTTTCTCGAACCCCG	0.567000													10	57					0	0	0.006214	0	0
NPAS3	64067	broad.mit.edu	37	14	34243708	34243708	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr14:34243708G>T	ENST00000346562.2	+	7	996	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	NPAS3_ENST00000551492.1_Missense_Mutation_p.D345Y|NPAS3_ENST00000548645.1_Missense_Mutation_p.D310Y|NPAS3_ENST00000357798.5_Missense_Mutation_p.D327Y|NPAS3_ENST00000356141.4_Missense_Mutation_p.D340Y	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGTAAATATGGACCTCAATAT	0.443000													11	88					0.000978159	0.00125885	0.000978	1	0
FAT4	79633	broad.mit.edu	37	4	126239597	126239597	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:126239597G>A	ENST00000394329.3	+	1	2044	c.2031G>A	c.(2029-2031)gtG>gtA	p.V677V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	677	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCATAAATGTGAGTCTTCTGG	0.493000													6	81					0	0	0.003080	0	0
OR8I2	120586	broad.mit.edu	37	11	55861085	55861085	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr11:55861085T>A	ENST00000302124.2	+	1	333	c.302T>A	c.(301-303)aTg>aAg	p.M101K	OR8I2_ENST00000560768.1_Missense_Mutation_p.M101K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTGTTCAAATGTACTTTTTT	0.393000													26	154					0	0	0.004656	0	0
GAS7	8522	broad.mit.edu	37	17	9837548	9837548	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:9837548C>G	ENST00000396115.1	-	9	950	c.640G>C	c.(640-642)Gcg>Ccg	p.A214P	GAS7_ENST00000579158.1_Missense_Mutation_p.A226P|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.A134P|GAS7_ENST00000585266.1_Missense_Mutation_p.A210P|GAS7_ENST00000432992.2_Missense_Mutation_p.A274P|GAS7_ENST00000437099.2_Missense_Mutation_p.A210P|GAS7_ENST00000542249.1_Missense_Mutation_p.A219P|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A210P	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	274	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGGGCCCACGCCTCTCCCAAG	0.597000			T	MLL	AML*								3	6					0	0	0.004672	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986053	11986053	+	RNA	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:11986053G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CACAATGATAGGCATTCTCTC	0.507000													4	55					0	0	0.000602	0	0
HAO1	54363	broad.mit.edu	37	20	7866489	7866489	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:7866489A>G	ENST00000378789.3	-	6	887	c.836T>C	c.(835-837)gTg>gCg	p.V279A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	279	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACAGCCTCCACAATTTCTGG	0.473000													17	93					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56489306	56489306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:56489306G>A	ENST00000518935.1	-	22	3411	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370765.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron			Q03001	DYST_HUMAN	dystonin	1443					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTACAGGGTGCTCACTG	0.393000													5	36					0	0	0.000602	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778703	14778703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:14778703A>T	ENST00000261170.3	-	21	2532	c.2396T>A	c.(2395-2397)aTg>aAg	p.M799K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	799					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGGAAGCAACATAAAGTTAAG	0.433000													25	101					0	0	0.003954	0	0
RDH8	50700	broad.mit.edu	37	19	10124205	10124205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:10124205C>A	ENST00000591589.1	+	1	281	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	RDH8_ENST00000171214.1_Missense_Mutation_p.S11Y			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	11					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGTTGATCTCCGGCTGCTCA	0.607000													9	47					1.12685e-05	1.64775e-05	0.004482	1	0
NOS1	4842	broad.mit.edu	37	12	117710192	117710192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:117710192C>A	ENST00000317775.6	-	10	2522	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.E613*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	613					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCTTACCTCCAGGATATTG	0.597000													9	45					1.76689e-08	2.95542e-08	0.006214	1	0
HRNR	388697	broad.mit.edu	37	1	152191497	152191497	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:152191497G>T	ENST00000368801.2	-	3	2683	c.2608C>A	c.(2608-2610)Cat>Aat	p.H870N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	870					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGACTCATGCTGACCATAG	0.607000													14	76					0.000151284	0.000209992	0.001855	1	0
C9orf131	138724	broad.mit.edu	37	9	35044909	35044909	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:35044909C>A	ENST00000312292.5	+	2	2330	c.2283C>A	c.(2281-2283)gcC>gcA	p.A761A	C9orf131_ENST00000354479.5_Silent_p.A688A|C9orf131_ENST00000421362.2_Silent_p.A713A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	761										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGCAGAGGCCCCACTCTCCC	0.572000													30	89					1.74807e-11	3.23845e-11	0.002096	1	0
PKD2	5311	broad.mit.edu	37	4	88959424	88959424	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:88959424G>C	ENST00000237596.2	+	4	931	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	289						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTCCTTATTGGATGGGCTGTA	0.488000													15	95					0	0	0.003163	0	0
GABRA1	2554	broad.mit.edu	37	5	161318041	161318041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:161318041G>T	ENST00000428797.2	+	9	1196	c.841G>T	c.(841-843)Gca>Tca	p.A281S	GABRA1_ENST00000393943.4_Missense_Mutation_p.A281S|GABRA1_ENST00000420560.1_Missense_Mutation_p.A281S|GABRA1_ENST00000444819.1_Missense_Mutation_p.A281S|GABRA1_ENST00000437025.2_Missense_Mutation_p.A281S|GABRA1_ENST00000023897.6_Missense_Mutation_p.A281S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	281					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTCTGTACCAGCAAGAACTGT	0.403000													8	61					0.00448238	0.00575775	0.004482	1	0
CPEB1	64506	broad.mit.edu	37	15	83226530	83226530	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:83226530C>G	ENST00000563800.1	-	4	2392	c.667G>C	c.(667-669)Gat>Cat	p.D223H	CPEB1_ENST00000564522.1_Missense_Mutation_p.D121H|CPEB1_ENST00000450751.2_Missense_Mutation_p.D121H|CPEB1_ENST00000398591.2_Missense_Mutation_p.D121H|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.D199H|CPEB1_ENST00000568757.1_Missense_Mutation_p.D121H|CPEB1_ENST00000568128.1_Missense_Mutation_p.D196H|CPEB1_ENST00000562019.1_Missense_Mutation_p.D196H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Missense_Mutation_p.D121H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	196					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA 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)			GAGAGATGATCTGATCCAGAG	0.522000													5	54					0	0	0.000602	0	0
CRISP3	10321	broad.mit.edu	37	6	49698878	49698878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:49698878C>A	ENST00000433368.2	-	7	746	c.677G>T	c.(676-678)tGc>tTc	p.C226F	CRISP3_ENST00000423399.2_Missense_Mutation_p.C113F|CRISP3_ENST00000371159.4_Missense_Mutation_p.C234F|CRISP3_ENST00000393666.1_Missense_Mutation_p.C203F|CRISP3_ENST00000263045.4_Missense_Mutation_p.C216F	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	203					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAACTTACTGCATAGTCCATC	0.358000													9	64					2.74318e-10	4.86862e-10	0.006214	1	0
WNK3	65267	broad.mit.edu	37	X	54328226	54328226	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:54328226T>C	ENST00000354646.2	-	6	1594	c.1156A>G	c.(1156-1158)Att>Gtt	p.I386V	WNK3_ENST00000375159.2_Missense_Mutation_p.I386V|WNK3_ENST00000375169.3_Missense_Mutation_p.I386V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	386	Protein kinase.				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						TTTTGACGAATACATCCTTCA	0.363000													6	39					0	0	0.001984	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794130	101794130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:101794130G>T	ENST00000506729.1	-	6	1258	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L301M|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L363M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	363						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAAGTTTCAGATCTTTAAGT	0.299000													10	82					3.07112e-06	4.62158e-06	0.000978	1	0
LGALS2	3957	broad.mit.edu	37	22	37966591	37966591	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr22:37966591C>T	ENST00000215886.4	-	3	415	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ACCTTGACCTCTGACCCTGGG	0.592000													6	158					0	0	0.001984	0	0
SALL4	57167	broad.mit.edu	37	20	50407792	50407792	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:50407792G>A	ENST00000217086.4	-	2	1341	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	410					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGAGCACACGAAGGGTCTCT	0.557000													5	50					0	0	0.001168	0	0
NRXN3	9369	broad.mit.edu	37	14	79432636	79432636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:79432636G>T	ENST00000554719.1	+	9	2036	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	NRXN3_ENST00000335750.5_Missense_Mutation_p.Q515H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACTCTTCAGGCTTACACCT	0.488000													14	102					1.49906e-05	2.15143e-05	0.002450	1	0
TCHH	7062	broad.mit.edu	37	1	152081786	152081786	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:152081786C>T	ENST00000368804.1	-	2	3906	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1303	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTTGCTCTTCTCGCTCC	0.557000													11	142					0	0	0.008291	0	0
NPY2R	4887	broad.mit.edu	37	4	156135529	156135529	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:156135529G>T	ENST00000329476.3	+	2	927	c.438G>T	c.(436-438)ctG>ctT	p.L146L	NPY2R_ENST00000506608.1_Silent_p.L146L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	146					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TAATTGCCCTGGACCGGCACA	0.567000													5	44					0.00116845	0.00152192	0.001168	1	0
EBF2	64641	broad.mit.edu	37	8	25744349	25744349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:25744349G>T	ENST00000520164.1	-	10	1468	c.931C>A	c.(931-933)Cca>Aca	p.P311T	EBF2_ENST00000535548.1_Missense_Mutation_p.P42T|EBF2_ENST00000408929.3_Missense_Mutation_p.P163T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	311	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P311T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCACGCCTGGGATGTGCCGG	0.463000													9	58					1.76689e-08	2.95542e-08	0.006214	1	0
UNC13B	10497	broad.mit.edu	37	9	35310603	35310603	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:35310603A>T	ENST00000378495.3	+	9	1123	c.901A>T	c.(901-903)Agc>Tgc	p.S301C	UNC13B_ENST00000378496.4_Missense_Mutation_p.S301C|UNC13B_ENST00000396787.1_Missense_Mutation_p.S313C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	301					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTCTCACAGCCTGTCCAG	0.512000													18	107					0	0	0.007413	0	0
SCYL2	55681	broad.mit.edu	37	12	100727948	100727948	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:100727948A>T	ENST00000360820.2	+	14	2203	c.1766A>T	c.(1765-1767)aAt>aTt	p.N589I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	589					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TACCAGTTCAATTCTTTCATT	0.294000													16	69					0	0	0.004990	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868043	7868043	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:7868043G>A	ENST00000264669.5	-	2	290	c.154C>T	c.(154-156)Cct>Tct	p.P52S	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	52					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACCCCGAAAGGCTCAGGTTGT	0.438000													15	62					0	0	0.004007	0	0
SAMHD1	25939	broad.mit.edu	37	20	35539683	35539683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:35539683C>A	ENST00000262878.4	-	11	1407	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	403					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CTTTTTTCCTCCAGCACCTGT	0.353000													23	111					6.07407e-21	1.23338e-20	0.007291	1	0
KRT23	25984	broad.mit.edu	37	17	39092847	39092847	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:39092847G>A	ENST00000209718.3	-	2	433	c.9C>T	c.(7-9)tcC>tcT	p.S3S	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	3	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGCTGTGTCCGGAGTTCATGG	0.667000													6	31					0	0	0.001168	0	0
AKAP12	9590	broad.mit.edu	37	6	151674410	151674410	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:151674410T>A	ENST00000402676.2	+	4	5124	c.4884T>A	c.(4882-4884)tcT>tcA	p.S1628S	AKAP12_ENST00000253332.1_Silent_p.S1628S|AKAP12_ENST00000354675.6_Silent_p.S1530S|AKAP12_ENST00000359755.5_Silent_p.S1523S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1628					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCACATTCTGATATTTCCA	0.478000													7	36					0	0	0.001984	0	0
KLHDC2	23588	broad.mit.edu	37	14	50247032	50247032	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:50247032A>T	ENST00000298307.5	+	9	1736	c.875A>T	c.(874-876)cAg>cTg	p.Q292L	KLHDC2_ENST00000557247.1_Missense_Mutation_p.Q292L|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Q292L	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	292						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ACTGATAAACAGCCACTAAGT	0.373000													14	95					0	0	0.002450	0	0
SCARA3	51435	broad.mit.edu	37	8	27516621	27516621	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:27516621G>C	ENST00000301904.3	+	5	954	c.934G>C	c.(934-936)Gat>Cat	p.D312H	SCARA3_ENST00000337221.4_Missense_Mutation_p.D312H	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	312					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCTGCAGCTGGATAACATCTC	0.567000													4	51					0	0	0.000248	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973512	31973512	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr21:31973512G>T	ENST00000334680.2	+	1	99	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	25						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						CTATGGCTGTGGTCTTAGCGG	0.478000													17	119					3.52763e-06	5.29145e-06	0.004990	1	0
TNN	63923	broad.mit.edu	37	1	175092534	175092534	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:175092534A>T	ENST00000239462.4	+	12	2763		c.e12-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTTTTAAAAAGAAATTGACG	0.443000													11	59					0	0	0.000978	0	0
GART	2618	broad.mit.edu	37	21	34876749	34876749	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr21:34876749T>A	ENST00000381831.3	-	21	3074	c.2811A>T	c.(2809-2811)acA>acT	p.T937T	GART_ENST00000381815.4_Silent_p.T937T|GART_ENST00000381839.3_Silent_p.T937T|GART_ENST00000543717.1_Silent_p.T489T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	937	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCCAGTAACTGTGACTCCGG	0.398000													21	80					0	0	0.002299	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355830	49355830	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:49355830G>T	ENST00000362097.1	+	3	195	c.112G>T	c.(112-114)Gca>Tca	p.A38S		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					AGTGGAACCAGCAACACCTGA	0.468000													33	724					0.000117367	0.000163891	0.005443	1	0
PIF1	80119	broad.mit.edu	37	15	65110486	65110486	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:65110486C>A	ENST00000268043.4	-	10	1592	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	PIF1_ENST00000559239.1_Missense_Mutation_p.V500L|PIF1_ENST00000333425.6_Missense_Mutation_p.V500L			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	500	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCAACTACCACCCCTCGGGCA	0.607000													9	36					4.68919e-08	7.67772e-08	0.008291	1	0
PNMA5	114824	broad.mit.edu	37	X	152159339	152159339	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:152159339G>C	ENST00000439251.1	-	2	1242	c.804C>G	c.(802-804)ccC>ccG	p.P268P	PNMA5_ENST00000361887.5_Silent_p.P268P|PNMA5_ENST00000535214.1_Silent_p.P268P|PNMA5_ENST00000452693.1_Silent_p.P268P	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	268					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGCAGGGGCTCTAAGC	0.542000													11	83					0	0	0.008291	0	0
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase.		Missing (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587000													25	189					0	0	0.004656	0	0
OR7A17	26333	broad.mit.edu	37	19	14992093	14992093	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:14992093G>T	ENST00000327462.2	-	1	171	c.75C>A	c.(73-75)ccC>ccA	p.P25P		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CAAAGAGGAAGGGCTGCAATT	0.453000													5	28					0.000602214	0.000800085	0.000602	1	0
COL22A1	169044	broad.mit.edu	37	8	139629185	139629185	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:139629185G>A	ENST00000303045.6	-	54	4288	c.3842C>T	c.(3841-3843)aCa>aTa	p.T1281I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.T1261I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1281	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGAATCGCCTGTGTGTCCCTT	0.577000										HNSCC(7;0.00092)			18	53					0	0	0.007413	0	0
ZNF384	171017	broad.mit.edu	37	12	6787405	6787405	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:6787405G>A	ENST00000396795.1	-	5	1071	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	ZNF384_ENST00000319770.3_Missense_Mutation_p.R176W|ZNF384_ENST00000361959.3_Missense_Mutation_p.R192W|ZNF384_ENST00000396801.3_Missense_Mutation_p.R192W|ZNF384_ENST00000355772.4_Missense_Mutation_p.R137W|ZNF384_ENST00000396799.2_Missense_Mutation_p.R192W			Q8TF68	ZN384_HUMAN	zinc finger protein 384	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TTCCGGCCCCGGGGTGGCTTA	0.592000			T	"""EWSR1, TAF15 """	ALL								17	64					0	0	0.004990	0	0
KRT73	319101	broad.mit.edu	37	12	53005044	53005044	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:53005044C>G	ENST00000305748.3	-	6	1088	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	352	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGGTCAGCTCTGAGATCTCA	0.537000													5	70					0	0	0.001984	0	0
NLRC4	58484	broad.mit.edu	37	2	32476210	32476210	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:32476210C>G	ENST00000404025.2	-	5	1211	c.723G>C	c.(721-723)caG>caC	p.Q241H	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q241H|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q241H|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	241	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.Q241H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAGAACCCTCTGCCGCAGCT	0.493000													17	85					0	0	0.006122	0	0
PDCL3	79031	broad.mit.edu	37	2	101188174	101188174	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:101188174C>T	ENST00000264254.6	+	5	869	c.491C>T	c.(490-492)cCc>cTc	p.P164L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	164					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGGAATCTGCCCACGATATTT	0.453000													24	151					0	0	0.003954	0	0
KLHL1	57626	broad.mit.edu	37	13	70456537	70456537	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:70456537C>G	ENST00000377844.4	-	5	1864	c.1105G>C	c.(1105-1107)Gtt>Ctt	p.V369L	KLHL1_ENST00000545028.1_Missense_Mutation_p.V176L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	369					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCATCAGGAACATTGACATCA	0.423000													6	71					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37026939	37026939	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:37026939G>T	ENST00000358047.3	+	1	508	c.456G>T	c.(454-456)ccG>ccT	p.P152P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	152										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						TACTGAAACCGCTGGACCCTG	0.557000													9	46					3.09899e-07	4.95199e-07	0.004482	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656204	40656204	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:40656204A>T	ENST00000406785.1	-	2	1406	c.1217T>A	c.(1216-1218)gTt>gAt	p.V406D	SLC8A1_ENST00000542024.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V406D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V406D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V406D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V406D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V406D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	406	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GATCTTACTAACAGGGTCATT	0.468000													5	68					0	0	0.000602	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753443	18753443	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:18753443C>A	ENST00000380548.4	+	16	2493	c.2154C>A	c.(2152-2154)agC>agA	p.S718R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	718	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAAGCCCAGCACGGTGCAAG	0.537000													4	26					0.000602214	0.000800085	0.000602	1	0
PDCD11	22984	broad.mit.edu	37	10	105173725	105173725	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:105173725C>G	ENST00000369797.3	+	10	1282	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	396	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTGCAGCTCAGCCATCTCT	0.458000													4	56					0	0	0.000248	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618910	77618910	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:77618910C>A	ENST00000521891.2	+	2	3035	c.2587C>A	c.(2587-2589)Ctc>Atc	p.L863I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L863I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L863I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L863I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCACCAGGGCTCGGTTAGTA	0.493000										HNSCC(33;0.089)			9	8					2.17888e-05	3.11747e-05	0.006214	1	0
GC	2638	broad.mit.edu	37	4	72634097	72634097	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:72634097C>T	ENST00000273951.8	-	3	525	c.182G>A	c.(181-183)aGc>aAc	p.S61N	GC_ENST00000513476.1_Missense_Mutation_p.S61N|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S80N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	61	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CACAAGTTGGCTGACCTGTTC	0.483000													5	28					0	0	0.001168	0	0
OR14I1	401994	broad.mit.edu	37	1	248844960	248844960	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:248844960A>T	ENST00000342623.3	-	1	669	c.646T>A	c.(646-648)Tat>Aat	p.Y216N		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	216			Y -> C (in dbSNP:rs55871516).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATTTGGAAATAGGAGATCATC	0.488000													17	70					0	0	0.007413	0	0
TOP3B	8940	broad.mit.edu	37	22	22317257	22317257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr22:22317257C>A	ENST00000398793.2	-	12	1647	c.1213G>T	c.(1213-1215)Gcg>Tcg	p.A405S	TOP3B_ENST00000357179.5_Missense_Mutation_p.A405S|TOP3B_ENST00000413067.2_Missense_Mutation_p.A134S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	405					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCCGCCACGCGTCACCCCCT	0.617000													7	21					8.12818e-05	0.000113844	0.001984	1	0
C7orf65	401335	broad.mit.edu	37	7	47698786	47698786	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:47698786A>G	ENST00000408988.2	+	3	451	c.416A>G	c.(415-417)aAa>aGa	p.K139R		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	139										endometrium(1)|lung(2)	3						GTGAGCTGCAAAAAAGGAAAG	0.537000													8	45					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463883	25463883	+	RNA	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:25463883C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGCTGGGATCCCAGGGTCCCC	0.522000													13	125					2.27111e-07	3.65421e-07	0.001368	1	0
HMMR	3161	broad.mit.edu	37	5	162911107	162911107	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:162911107G>T	ENST00000416990.2	+	16	1970	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	HMMR_ENST00000432118.2_Missense_Mutation_p.Q519H|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Missense_Mutation_p.Q605H|HMMR_ENST00000353866.3_Missense_Mutation_p.Q590H|HMMR_ENST00000393915.4_Missense_Mutation_p.Q606H|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	605						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAGAAAAACAGGCATTGTTGA	0.289000													7	47					0.000157383	0.000217161	0.003080	1	0
KIAA1211	57482	broad.mit.edu	37	4	57193886	57193886	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:57193886C>A	ENST00000504228.1	+	9	3723	c.3618C>A	c.(3616-3618)gcC>gcA	p.A1206A	KIAA1211_ENST00000541073.1_Silent_p.A1199A|KIAA1211_ENST00000264229.6_Silent_p.A1206A			Q6ZU35	K1211_HUMAN	KIAA1211	1206										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGGATGCTGCCCCCGTGTCAA	0.527000													20	186					1.15919e-05	1.68972e-05	0.008871	1	0
BLVRA	644	broad.mit.edu	37	7	43846649	43846649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:43846649G>T	ENST00000402924.1	+	9	869	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	BLVRA_ENST00000265523.4_Missense_Mutation_p.G236W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	236					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TTTCAAGTCTGGGTCCTTGGA	0.373000													24	52					1.64293e-13	3.15688e-13	0.003330	1	0
LINC00922	283867	broad.mit.edu	37	16	65319336	65319336	+	RNA	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:65319336G>T	ENST00000569736.1	-	0	825				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						TGGCGGTCTTGTGTGTGCTAA	0.502000													6	27					8.12818e-05	0.000113844	0.001984	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527301	33527301	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:33527301C>T	ENST00000504830.1	-	24	5112	c.4777G>A	c.(4777-4779)Gaa>Aaa	p.E1593K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1508K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1593					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTAGAGTTCTTTTGACTTT	0.537000										HNSCC(64;0.19)			33	185					0	0	0.003271	0	0
CRB1	23418	broad.mit.edu	37	1	197325967	197325967	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:197325967C>A	ENST00000367400.3	+	5	1130	c.995C>A	c.(994-996)aCa>aAa	p.T332K	CRB1_ENST00000543483.1_Missense_Mutation_p.T31K|CRB1_ENST00000538660.1_Missense_Mutation_p.T332K|CRB1_ENST00000367399.2_Missense_Mutation_p.T220K|CRB1_ENST00000535699.1_Missense_Mutation_p.T263K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	332	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAGGATACACAGGTGCCCAG	0.453000													4	39					5.9392e-07	9.29875e-07	0.001168	1	0
MTUS1	57509	broad.mit.edu	37	8	17579393	17579393	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:17579393T>A	ENST00000381861.3	-	1	337	c.18A>T	c.(16-18)ggA>ggT	p.G6G	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AACTGCGAAATCCTCCTGGTA	0.408000													6	42					0	0	0.001984	0	0
ROBO2	6092	broad.mit.edu	37	3	77147290	77147290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:77147290G>T	ENST00000461745.1	+	2	1087	c.187G>T	c.(187-189)Gag>Tag	p.E63*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.E79*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.E63*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	63	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCCACCATTGAGTGGTACAA	0.597000													9	35					1.12685e-05	1.64775e-05	0.004482	1	0
KLHL4	56062	broad.mit.edu	37	X	86773224	86773224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:86773224G>T	ENST00000373119.4	+	1	473	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	KLHL4_ENST00000373114.4_Missense_Mutation_p.V110F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	110						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						TCCTAAATCAGTTCCAGAGAA	0.418000													18	79					0.00074312	0.000981679	0.006122	1	0
MYH7	4625	broad.mit.edu	37	14	23885457	23885457	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:23885457G>T	ENST00000355349.3	-	34	4871	c.4709C>A	c.(4708-4710)gCa>gAa	p.A1570E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1570					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGATCTCTGCCTTGATCTG	0.642000													19	137					3.32936e-07	5.30189e-07	0.006122	1	0
OR4K13	390433	broad.mit.edu	37	14	20502726	20502726	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:20502726G>C	ENST00000315693.2	-	1	193	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGAGAGGTTGCTAAGCAGAA	0.458000													10	47					0	0	0.000978	0	0
SEC11C	90701	broad.mit.edu	37	18	56819837	56819837	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:56819837C>G	ENST00000587834.1	+	3	739	c.267C>G	c.(265-267)atC>atG	p.I89M	SEC11C_ENST00000588875.1_Missense_Mutation_p.I89M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	89					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAGACCCAATCAGAGCTGGTG	0.423000													6	147					0	0	0.001168	0	0
OR52B6	340980	broad.mit.edu	37	11	5602780	5602780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:5602780C>A	ENST00000345043.2	+	1	674	c.674C>A	c.(673-675)tCc>tAc	p.S225Y	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCTTCTCTCCACAGGCCTA	0.498000													24	155					6.36457e-07	9.9313e-07	0.003954	1	0
BTK	695	broad.mit.edu	37	X	100613358	100613358	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:100613358C>T	ENST00000308731.7	-	12	1205	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	348	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGTGCTTCTCAGCCAGGTAA	0.502000									Agammaglobulinemia, X-linked				9	141					0	0	0.004482	0	0
DDX50	79009	broad.mit.edu	37	10	70700879	70700879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:70700879G>C	ENST00000373585.3	+	13	1926	c.1819G>C	c.(1819-1821)Gaa>Caa	p.E607Q	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	607						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGCTTGGAAAGAACTTAACAG	0.388000													6	41					0	0	0.001984	0	0
HPGDS	27306	broad.mit.edu	37	4	95223336	95223336	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:95223336G>A	ENST00000295256.5	-	5	486	c.396C>T	c.(394-396)gaC>gaT	p.D132D		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	132	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CTAAATATGTGTCCAAGTCTT	0.358000													45	182					0	0	0.003610	0	0
SLC25A23	79085	broad.mit.edu	37	19	6456529	6456529	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:6456529C>T	ENST00000301454.4	-	4	491	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	SLC25A23_ENST00000334510.5_Missense_Mutation_p.G129S	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	129	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCATTGTGCCGTCTCGGTCC	0.562000													4	36					0	0	0.001168	0	0
FAM83B	222584	broad.mit.edu	37	6	54735345	54735345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:54735345G>T	ENST00000306858.7	+	2	417	c.301G>T	c.(301-303)Gct>Tct	p.A101S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	101										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGATGTGGAAGCTCCAAATCT	0.473000													27	97					2.44723e-14	4.80153e-14	0.004656	1	0
PSME4	23198	broad.mit.edu	37	2	54155334	54155334	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:54155334G>C	ENST00000404125.1	-	11	1478	c.1423C>G	c.(1423-1425)Cct>Gct	p.P475A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	475					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGACCTTCAGGAAACCATCTG	0.438000													9	45					0	0	0.004482	0	0
TNC	3371	broad.mit.edu	37	9	117852845	117852845	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:117852845G>A	ENST00000350763.4	-	2	864	c.453C>T	c.(451-453)gcC>gcT	p.A151A	TNC_ENST00000542877.1_Silent_p.A151A|TNC_ENST00000535648.1_Silent_p.A151A|TNC_ENST00000423613.2_Silent_p.A151A|TNC_ENST00000340094.3_Silent_p.A151A|TNC_ENST00000346706.3_Silent_p.A151A|TNC_ENST00000345230.3_Silent_p.A151A|TNC_ENST00000341037.4_Silent_p.A151A|TNC_ENST00000537320.1_Silent_p.A151A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	151					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATACCTGTGGCAGGCTGGA	0.557000													8	86					0	0	0.004482	0	0
OR2A14	135941	broad.mit.edu	37	7	143826518	143826518	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:143826518G>T	ENST00000408899.2	+	1	368	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTGTATTTGGCTTTTGCTCA	0.453000													38	213					2.75727e-19	5.55035e-19	0.004878	1	0
SPANXC	64663	broad.mit.edu	37	X	140336551	140336551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:140336551C>A	ENST00000358993.2	-	1	78	c.40G>T	c.(40-42)Gtc>Ttc	p.V14F		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	14						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCACAGGGGACGCTCCTCTTC	0.498000													31	152					9.04072e-19	1.81204e-18	0.003271	1	0
FGA	2243	broad.mit.edu	37	4	155507469	155507469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:155507469C>A	ENST00000302053.3	-	5	1190	c.1112G>T	c.(1111-1113)gGg>gTg	p.G371V	FGA_ENST00000403106.3_Missense_Mutation_p.G371V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	371					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTCCAGTGCCCAGCACTTCC	0.552000													31	90					6.38683e-12	1.19753e-11	0.008361	1	0
TXNIP	10628	broad.mit.edu	37	1	145440958	145440958	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:145440958A>T	ENST00000369317.4	+	7	1379	c.1045A>T	c.(1045-1047)Act>Tct	p.T349S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	349					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCCCAACCACTCCTCTGCT	0.468000													24	130					0	0	0.002780	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:149457738G>T	ENST00000286301.3	-	5	957	c.666C>A	c.(664-666)atC>atA	p.I222I	CSF1R_ENST00000543093.1_Silent_p.I222I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000													10	59					7.48243e-07	1.15978e-06	0.006214	1	0
CAD	790	broad.mit.edu	37	2	27463183	27463183	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:27463183C>T	ENST00000264705.4	+	35	5709	c.5547C>T	c.(5545-5547)ttC>ttT	p.F1849F	CAD_ENST00000403525.1_Silent_p.F1786F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1849	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATGGCCGCTTCCATCTGCCGC	0.547000													7	111					0	0	0.003080	0	0
MEIOB	254528	broad.mit.edu	37	16	1891847	1891847	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:1891847T>G	ENST00000412554.2	-	11	1202	c.1008A>C	c.(1006-1008)gaA>gaC	p.E336D	MEIOB_ENST00000397344.3_Missense_Mutation_p.E336D|MEIOB_ENST00000470044.1_Missense_Mutation_p.E129D|MEIOB_ENST00000325962.3_Missense_Mutation_p.E336D|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000452149.2_Missense_Mutation_p.E336D	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		CTTTTGTAGTTTCATCATCAA	0.318000													11	51					0	0	0.000978	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175742	143175742	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:143175742C>T	ENST00000408916.1	+	1	777	c.777C>T	c.(775-777)tcC>tcT	p.S259S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	259					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AATTTATCTCCATGCAGAACG	0.483000													8	91					0	0	0.004482	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302859	162302859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:162302859G>T	ENST00000361897.5	+	5	799	c.397G>T	c.(397-399)Gct>Tct	p.A133S	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A128S	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	133	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGCTATATCGCTCGAGATGG	0.418000													10	55					3.07112e-06	4.62158e-06	0.000978	1	0
OSMR	9180	broad.mit.edu	37	5	38925343	38925343	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:38925343G>T	ENST00000274276.3	+	15	2484	c.2082G>T	c.(2080-2082)ccG>ccT	p.P694P		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGACAACCCGGAAGAAAAGG	0.353000													22	78					2.89027e-11	5.29124e-11	0.002299	1	0
SNHG14	104472715	broad.mit.edu	37	15	25330540	25330540	+	RNA	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:25330540G>C	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTGGATCGATGATGACTTCCT	0.453000													9	146					0	0	0.004482	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761500	27761500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:27761500C>G	ENST00000261588.4	+	16	3238	c.3219C>G	c.(3217-3219)atC>atG	p.I1073M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1073										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTGCCCTGATCAGAATTTGGA	0.522000													3	52					0	0	0.004672	0	0
CHL1	10752	broad.mit.edu	37	3	447322	447322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:447322C>A	ENST00000256509.2	+	28	4245	c.3603C>A	c.(3601-3603)taC>taA	p.Y1201*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y1185*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1185					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGTGCCTACGCTGGATCTA	0.458000													20	70					2.32416e-17	4.61852e-17	0.002299	1	0
ARL6IP6	151188	broad.mit.edu	37	2	153575486	153575486	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:153575486C>G	ENST00000326446.5	+	1	1059	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	116						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCGCTGCTCTTCGCCATTC	0.582000													5	85					0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62300719	62300719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:62300719C>G	ENST00000378024.4	-	5	1444	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	390					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCTGTGGCTTGGCACCTT	0.587000													5	31					0	0	0.001168	0	0
IGHA2	3494	broad.mit.edu	37	14	106054696	106054696	+	RNA	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:106054696G>T	ENST00000390539.2	-	0	36																											GTGCTGTCGAGGCTCAGCGGG	0.637000													6	55					5.9392e-07	9.29875e-07	0.001168	1	0
DTNA	1837	broad.mit.edu	37	18	32398234	32398234	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:32398234G>T	ENST00000283365.9	+	9	1167	c.816G>T	c.(814-816)tgG>tgT	p.W272C	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.W272C|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.W272C|DTNA_ENST00000269191.6_Missense_Mutation_p.W272C|DTNA_ENST00000348997.5_Missense_Mutation_p.W272C|DTNA_ENST00000598334.1_Missense_Mutation_p.W272C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.W272C|DTNA_ENST00000597599.1_Missense_Mutation_p.W272C|DTNA_ENST00000399121.5_Missense_Mutation_p.W272C|DTNA_ENST00000399113.3_Missense_Mutation_p.W272C|DTNA_ENST00000598774.1_Missense_Mutation_p.W272C|DTNA_ENST00000595022.1_Missense_Mutation_p.W272C|DTNA_ENST00000269190.7_Missense_Mutation_p.W272C|DTNA_ENST00000444659.1_Missense_Mutation_p.W272C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	272	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACTGCTTCTGGAGGGGACATG	0.507000													6	40					0.00116845	0.00152192	0.001168	1	0
BPTF	2186	broad.mit.edu	37	17	65889808	65889808	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:65889808C>T	ENST00000321892.4	+	8	2817	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L	BPTF_ENST00000335221.5_Missense_Mutation_p.S919L|BPTF_ENST00000306378.6_Missense_Mutation_p.S793L|BPTF_ENST00000424123.3_Missense_Mutation_p.S780L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	919	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCCCTTCATCCTTTCTT	0.368000													7	97					0	0	0.001984	0	0
OR52N2	390077	broad.mit.edu	37	11	5841709	5841709	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:5841709C>G	ENST00000317037.2	+	1	166	c.144C>G	c.(142-144)atC>atG	p.I48M	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCTCATCTGCCTCATCA	0.552000													6	109					0	0	0.001984	0	0
LRFN5	145581	broad.mit.edu	37	14	42356141	42356141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:42356141C>G	ENST00000554171.1	+	5	2745	c.313C>G	c.(313-315)Cat>Gat	p.H105D	LRFN5_ENST00000554120.1_Missense_Mutation_p.H105D|LRFN5_ENST00000298119.4_Missense_Mutation_p.H105D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	105						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAGGGCTTTGCATTTGAATAG	0.368000										HNSCC(30;0.082)			10	58					0	0	0.008291	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158619	26158619	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:26158619C>T	ENST00000289316.2	+	1	246	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST1H2BD_ENST00000377777.4_Silent_p.I74I	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCGAGCGCATCGCAGGCGAGG	0.602000													9	176					0	0	0.006214	0	0
ZNF528	84436	broad.mit.edu	37	19	52919235	52919235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:52919235G>T	ENST00000360465.3	+	7	1556	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACACTGGAAGGAAACCT	0.418000													9	70					4.68919e-08	7.67772e-08	0.008291	1	0
METAP1	23173	broad.mit.edu	37	4	99960598	99960598	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:99960598G>A	ENST00000296411.6	+	5	548	c.414G>A	c.(412-414)ggG>ggA	p.G138G	METAP1_ENST00000544031.1_Silent_p.G88G	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	138					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		ATATAGAAGGGATGCGACTTG	0.363000													22	89					0	0	0.001882	0	0
ZNF668	79759	broad.mit.edu	37	16	31072695	31072695	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:31072695G>A	ENST00000538906.1	-	3	2338	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	ZNF668_ENST00000535577.1_Silent_p.C518C|ZNF668_ENST00000394983.2_Silent_p.C518C|ZNF668_ENST00000300849.4_Silent_p.C518C|ZNF668_ENST00000426488.2_Silent_p.C541C|ZNF668_ENST00000539836.3_Silent_p.C541C	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCACTCTCGGCACACAAACT	0.662000													8	63					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196825332	196825332	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:196825332C>A	ENST00000312428.6	-	18	2643	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	848	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGGCGCAAACCAGGATTACA	0.448000													13	129					1.49906e-05	2.15143e-05	0.002450	1	0
EPHX4	253152	broad.mit.edu	37	1	92511127	92511127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:92511127G>T	ENST00000370383.4	+	4	612	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	172						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGACTGGGGGGGCATGATTGC	0.388000													15	98					4.75885e-15	9.37655e-15	0.004990	1	0
MARCH6	10299	broad.mit.edu	37	5	10382003	10382003	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:10382003T>A	ENST00000274140.5	+	4	414	c.282T>A	c.(280-282)ttT>ttA	p.F94L	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	94					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GATATTGGTTTCATTATACAC	0.393000													30	166					0	0	0.002445	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021798	51021798	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:51021798A>T	ENST00000599957.1	-	3	1369	c.1172T>A	c.(1171-1173)aTg>aAg	p.M391K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.M391K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	391	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GACGGAGGTCATGGAGGTGCC	0.642000													4	18					0	0	0.000248	0	0
GABRB2	2561	broad.mit.edu	37	5	160757927	160757927	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:160757927C>A	ENST00000274547.2	-	9	1257	c.1040G>T	c.(1039-1041)aGt>aTt	p.S347I	GABRB2_ENST00000353437.6_Missense_Mutation_p.S347I|GABRB2_ENST00000520240.1_Missense_Mutation_p.S347I|GABRB2_ENST00000517547.1_Missense_Mutation_p.S187I|GABRB2_ENST00000517901.1_Missense_Mutation_p.S284I|GABRB2_ENST00000393959.1_Missense_Mutation_p.S347I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	347					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTGTTGGCACTGGCAGCCTT	0.493000													15	123					0.000308642	0.000419645	0.003163	1	0
SNAP91	9892	broad.mit.edu	37	6	84417640	84417640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:84417640C>A	ENST00000428679.2	-	2	600	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	SNAP91_ENST00000369694.2_Missense_Mutation_p.G3C|SNAP91_ENST00000521743.1_Missense_Mutation_p.G3C|SNAP91_ENST00000195649.6_Missense_Mutation_p.G3C|SNAP91_ENST00000437520.1_Missense_Mutation_p.G3C|SNAP91_ENST00000520302.1_Missense_Mutation_p.G3C|SNAP91_ENST00000521485.1_Missense_Mutation_p.G3C|SNAP91_ENST00000439399.2_Missense_Mutation_p.G3C|SNAP91_ENST00000520213.1_Missense_Mutation_p.G3C			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	3					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGCGTTTGGCCCGACATCTTC	0.587000													7	35					2.0095e-06	3.05365e-06	0.001984	1	0
SCN4A	6329	broad.mit.edu	37	17	62041056	62041056	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:62041056T>A	ENST00000578147.1	-	10	1658	c.1582A>T	c.(1582-1584)Agc>Tgc	p.S528C	SCN4A_ENST00000435607.1_Missense_Mutation_p.S528C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	528					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAGATGCCGCTGTCTCCGCTG	0.637000													4	14					0	0	0.000248	0	0
CBLN3	643866	broad.mit.edu	37	14	24897996	24897996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:24897996C>T	ENST00000267406.6	-	1	735	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	CBLN3_ENST00000555436.1_Intron	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	89	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTGCCATTGCCGGTTTCCCCT	0.657000													8	29					0	0	0.004482	0	0
RPN2	6185	broad.mit.edu	37	20	35860773	35860773	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:35860773G>T	ENST00000237530.6	+	14	1967	c.1656G>T	c.(1654-1656)ccG>ccT	p.P552P	RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Silent_p.P520P	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	552					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCCTCTCGCCGTTGCTTCTGC	0.582000													17	105					5.03518e-11	9.1818e-11	0.007413	1	0
SORBS3	10174	broad.mit.edu	37	8	22428517	22428517	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:22428517A>T	ENST00000240123.7	+	18	1909	c.1526A>T	c.(1525-1527)tAc>tTc	p.Y509F	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Missense_Mutation_p.Y167F	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	509	Binds to vinculin.|SH3 2.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGCCAGCTACGTGCAGGTG	0.677000													8	54					0	0	0.006214	0	0
PNMA5	114824	broad.mit.edu	37	X	152159338	152159338	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:152159338G>T	ENST00000439251.1	-	2	1243	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	PNMA5_ENST00000361887.5_Missense_Mutation_p.L269M|PNMA5_ENST00000535214.1_Missense_Mutation_p.L269M|PNMA5_ENST00000452693.1_Missense_Mutation_p.L269M	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	269					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCAGCAGGGGCTCTAAG	0.542000													11	86					1.58986e-06	2.42389e-06	0.008291	1	0
KIAA1377	57562	broad.mit.edu	37	11	101829004	101829004	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:101829004G>A	ENST00000263468.8	+	5	882	c.612G>A	c.(610-612)atG>atA	p.M204I	KIAA1377_ENST00000537689.1_Missense_Mutation_p.M5I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	204							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGAAAACATGAGGGCAACCT	0.373000													21	207					0	0	0.001523	0	0
IREB2	3658	broad.mit.edu	37	15	78777227	78777227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:78777227C>T	ENST00000258886.8	+	12	1687	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	513							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)		ATCAGTTGTACCAATAATTGC	0.378000													7	42					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	134146946	134146946	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:134146946G>A	ENST00000220616.4	+	48	8255	c.8215G>A	c.(8215-8217)Gag>Aag	p.E2739K	TG_ENST00000519543.1_Missense_Mutation_p.E872K|TG_ENST00000377869.1_Missense_Mutation_p.E2682K|TG_ENST00000542445.1_Missense_Mutation_p.E1109K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2739					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGTCAGCAGAGAGTGAAGA	0.547000													5	62					0	0	0.000602	0	0
PMS2	5395	broad.mit.edu	37	7	6027151	6027151	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:6027151C>A	ENST00000265849.7	-	11	1350	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.V309V|PMS2_ENST00000406569.3_Silent_p.V415V|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	415					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGGAAATGGACACGTCTTTTT	0.458000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	52					0.000219431	0.00030188	0.002450	1	0
C1orf173	127254	broad.mit.edu	37	1	75038850	75038850	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:75038850G>T	ENST00000326665.5	-	14	2762	c.2544C>A	c.(2542-2544)gtC>gtA	p.V848V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	848	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCAGCCTTCTGACCCCTTCTG	0.537000													7	104					5.18039e-06	7.7456e-06	0.003080	1	0
LRP1	4035	broad.mit.edu	37	12	57587421	57587421	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:57587421A>G	ENST00000243077.3	+	47	8223	c.7757A>G	c.(7756-7758)aAc>aGc	p.N2586S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2586	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGTGCAACGGGGCCGAC	0.602000													7	31					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438424	25438424	+	RNA	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:25438424G>T	ENST00000424208.1	+	0	1283				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GAGCACATCCGGGTCCTGCTG	0.552000													39	132					3.76114e-14	7.34844e-14	0.004289	1	0
BCORL1	63035	broad.mit.edu	37	X	129148345	129148345	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:129148345G>A	ENST00000540052.1	+	3	1641	c.1597G>A	c.(1597-1599)Ggt>Agt	p.G533S	BCORL1_ENST00000218147.7_Missense_Mutation_p.G533S|BCORL1_ENST00000303743.5_Missense_Mutation_p.G533S|BCORL1_ENST00000359304.2_Missense_Mutation_p.G533S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	533	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCCCCATCCGGTAGCACCAC	0.592000													22	196					0	0	0.003330	0	0
KLHL5	51088	broad.mit.edu	37	4	39109275	39109275	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:39109275C>G	ENST00000261425.3	+	9	1764	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	KLHL5_ENST00000508137.2_Missense_Mutation_p.Q397E|KLHL5_ENST00000504108.1_Missense_Mutation_p.Q584E|KLHL5_ENST00000261426.5_Missense_Mutation_p.Q523E|KLHL5_ENST00000359687.2_Missense_Mutation_p.Q584E|KLHL5_ENST00000381930.3_Missense_Mutation_p.Q584E	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	584						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGGACCCTCAGGCTCGCCA	0.483000													6	72					0	0	0.001168	0	0
SMR3A	26952	broad.mit.edu	37	4	71232504	71232504	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:71232504C>A	ENST00000226460.4	+	3	294	c.198C>A	c.(196-198)ccC>ccA	p.P66P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	66	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTCCACCACCCCTTTCTCCAC	0.552000													20	158					7.41877e-09	1.25903e-08	0.001882	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817514	26817514	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:26817514G>T	ENST00000444914.3	+	3	841	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	SLC13A2_ENST00000545060.1_Missense_Mutation_p.G49W|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G21W|SLC13A2_ENST00000314669.5_Missense_Mutation_p.G92W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	92						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTGTTCTTCGGGGGGCTGCT	0.637000													6	131					0.00198382	0.00256957	0.001984	1	0
TDRD7	23424	broad.mit.edu	37	9	100245541	100245541	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:100245541G>C	ENST00000355295.4	+	15	3118	c.2823G>C	c.(2821-2823)ctG>ctC	p.L941L	TDRD7_ENST00000422139.2_Silent_p.L867L|TDRD7_ENST00000540902.1_Silent_p.L261L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	941	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGAAGTTCTGATGGAAGAGA	0.478000													5	78					0	0	0.000602	0	0
ABCC8	6833	broad.mit.edu	37	11	17496452	17496452	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:17496452C>T	ENST00000302539.4	-	2	396	c.271G>A	c.(271-273)Gag>Aag	p.E91K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E91K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	91					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGATGCCCTCTGCAATCTCA	0.552000													4	47					0	0	0.000248	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032219	46032219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr21:46032219C>A	ENST00000334662.2	+	1	224	c.202C>A	c.(202-204)Cca>Aca	p.P68T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	68	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTGTGCCCCAGCCCCCTG	0.662000													10	77					7.48243e-07	1.15978e-06	0.006214	1	0
SSFA2	6744	broad.mit.edu	37	2	182786958	182786958	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:182786958C>T	ENST00000431877.2	+	16	3673	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F	SSFA2_ENST00000320370.7_Missense_Mutation_p.S1165F|SSFA2_ENST00000428267.2_Missense_Mutation_p.S990F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S1143F|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_Missense_Mutation_p.S674F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1165						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGAACAGGCTCTGTGCAGACA	0.502000													6	117					0	0	0.001168	0	0
SHANK2	22941	broad.mit.edu	37	11	70331742	70331742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:70331742C>T	ENST00000338508.4	-	32	4658	c.4659G>A	c.(4657-4659)atG>atA	p.M1553I	SHANK2_ENST00000449833.2_Missense_Mutation_p.M957I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M1173I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M956I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1173					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGATGGGCTTCATTTTTGGCT	0.517000													12	162					0	0	0.001855	0	0
AGXT	189	broad.mit.edu	37	2	241812406	241812406	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:241812406C>A	ENST00000307503.3	+	5	922	c.535C>A	c.(535-537)Ctg>Atg	p.L179M		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	179					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTACAAGTGCCTGCTCCTGGT	0.662000													14	76					6.72482e-11	1.21675e-10	0.003163	1	0
ARR3	407	broad.mit.edu	37	X	69497954	69497954	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:69497954A>C	ENST00000374495.3	+	11	831	c.733A>C	c.(733-735)Aag>Cag	p.K245Q	ARR3_ENST00000307959.8_Missense_Mutation_p.K245Q			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	245					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCACTAGACAAGTACACCAA	0.507000													4	24					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9065227	9065227	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:9065227C>T	ENST00000397910.4	-	3	22422	c.22219G>A	c.(22219-22221)Gtt>Att	p.V7407I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7409	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAGAAACAGGAGAAGGT	0.527000													5	38					0	0	0.000602	0	0
TNFRSF8	943	broad.mit.edu	37	1	12171958	12171958	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:12171958T>A	ENST00000263932.2	+	7	902	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.L116Q	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	227					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGGTCTGTCCCCAACA	0.652000													4	29					0	0	0.000248	0	0
INPP4B	8821	broad.mit.edu	37	4	143081599	143081599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:143081599G>A	ENST00000513000.1	-	18	1908	c.1475C>T	c.(1474-1476)aCa>aTa	p.T492I	INPP4B_ENST00000262992.4_Missense_Mutation_p.T492I|INPP4B_ENST00000308502.4_Missense_Mutation_p.T492I|INPP4B_ENST00000509777.1_Missense_Mutation_p.T492I|INPP4B_ENST00000508116.1_Missense_Mutation_p.T492I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	492					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCTCTCCTCTGTGCTGCTCTT	0.512000													23	62					0	0	0.002780	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735131	31735131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:31735131C>A	ENST00000342032.3	+	3	759	c.131C>A	c.(130-132)cCt>cAt	p.P44H	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	44					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAAAAGAAGCCTAGAAAGGGA	0.388000													17	97					3.41278e-10	6.03401e-10	0.004990	1	0
PSME4	23198	broad.mit.edu	37	2	54155333	54155333	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:54155333G>A	ENST00000404125.1	-	11	1479	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	475					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGACCTTCAGGAAACCATCT	0.438000													9	46					0	0	0.004482	0	0
EVC	2121	broad.mit.edu	37	4	5811337	5811337	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:5811337A>T	ENST00000382674.2	+	19	2965	c.2782_splice	c.e19+1	p.L927_splice	EVC_ENST00000264956.6_Splice_Site_p.L927_splice			P57679	EVC_HUMAN	Ellis van Creveld syndrome	927					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGGCTGCTAGGTGAGTCAc	0.542000													8	20					0	0	0.004482	0	0
NMNAT1	64802	broad.mit.edu	37	1	10035808	10035808	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:10035808T>A	ENST00000377205.1	+	3	418	c.274T>A	c.(274-276)Tgg>Agg	p.W92R	NMNAT1_ENST00000403197.1_Missense_Mutation_p.W92R	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	92					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGAAGGAGTGGAAAGAGAC	0.418000													25	93					0	0	0.006320	0	0
C20orf85	128602	broad.mit.edu	37	20	56728654	56728654	+	Nonsense_Mutation	SNP	G	G	A	rs61754558		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:56728654G>A	ENST00000371168.3	+	2	184	c.123G>A	c.(121-123)tgG>tgA	p.W41*		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	41										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CCCAGAACTGGGGGTTTTTAA	0.423000													8	87					0	0	0.004482	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939537	26939537	+	RNA	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:26939537C>A	ENST00000544033.1	+	0	5470					NR_026794.1																						GCTGCAGATTCTGTCAGTGCT	0.527000													19	91					7.41877e-09	1.25903e-08	0.001882	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42162015	42162015	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:42162015G>T	ENST00000444063.1	+	10	1332	c.1200G>T	c.(1198-1200)gtG>gtT	p.V400V	L3MBTL1_ENST00000373135.3_Silent_p.V400V|L3MBTL1_ENST00000427442.2_Silent_p.V468V|L3MBTL1_ENST00000418998.1_Silent_p.V468V|L3MBTL1_ENST00000373134.1_Silent_p.V400V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	400					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCCACCCAGTGGGCTGGTGCC	0.582000													4	46					0.00024832	0.000339614	0.000248	1	0
OR13C2	392376	broad.mit.edu	37	9	107367901	107367901	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:107367901C>G	ENST00000542196.1	-	1	50	c.8G>C	c.(7-9)tGg>tCg	p.W3S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTGGTTTTCCCATTCCATTTT	0.343000													16	75					0	0	0.004990	0	0
OR1N2	138882	broad.mit.edu	37	9	125315565	125315565	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:125315565G>A	ENST00000373688.2	+	1	175	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGTGGCCAGAGGAGCAGCCTC	0.537000													12	70					0	0	0.000978	0	0
RBPJL	11317	broad.mit.edu	37	20	43944983	43944983	+	Splice_Site	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:43944983G>A	ENST00000343694.3	+	10	1248		c.e10+1		RBPJL_ENST00000372741.3_Splice_Site|RBPJL_ENST00000372743.1_Splice_Site|RBPJL_ENST00000464504.1_Splice_Site	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CACCCTAGAGGTGAAGCCGGG	0.657000													4	21					0	0	0.000602	0	0
POU6F2	11281	broad.mit.edu	37	7	39472855	39472855	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:39472855G>T	ENST00000518318.2	+	7	1248	c.1206G>T	c.(1204-1206)acG>acT	p.T402T	POU6F2_ENST00000403058.1_Silent_p.T402T|POU6F2_ENST00000559001.1_Silent_p.T347T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	402	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGCATCACGCTGTCACCCA	0.582000													8	44					1.12685e-05	1.64775e-05	0.004482	1	0
DRP2	1821	broad.mit.edu	37	X	100486680	100486680	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:100486680G>T	ENST00000395209.3	+	3	571	c.44G>T	c.(43-45)cGa>cTa	p.R15L	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000538510.1_Missense_Mutation_p.R15L|DRP2_ENST00000402866.1_Missense_Mutation_p.R15L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	15					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.R12Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTCCCACGATGTCATGAC	0.527000													27	130					3.73148e-12	7.02485e-12	0.007291	1	0
TMEM63A	9725	broad.mit.edu	37	1	226034860	226034860	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:226034860G>C	ENST00000366835.3	-	24	2575	c.2305C>G	c.(2305-2307)Ccg>Gcg	p.P769A		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	769						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGCTGCTGCGGAGACAGTGCT	0.607000													5	89					0	0	0.001984	0	0
XBP1	7494	broad.mit.edu	37	22	29191699	29191699	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr22:29191699G>A	ENST00000216037.6	-	5	693	c.621C>T	c.(619-621)ttC>ttT	p.F207F	XBP1_ENST00000405219.3_Silent_p.F157F|XBP1_ENST00000344347.5_Silent_p.L199L|XBP1_ENST00000403532.3_Silent_p.F212F	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	207					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AAGTTGTCCAGAATGCCCAAC	0.468000													8	80					0	0	0.004482	0	0
TMF1	7110	broad.mit.edu	37	3	69082733	69082733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:69082733C>A	ENST00000543976.1	-	10	2622	c.2376G>T	c.(2374-2376)tgG>tgT	p.W792C	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.W789C|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	789					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTAATTTCTCCCACGACGATG	0.388000													9	53					3.09899e-07	4.95199e-07	0.004482	1	0
TMEM25	84866	broad.mit.edu	37	11	118403871	118403871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:118403871G>T	ENST00000524725.1	+	3	1034	c.622G>T	c.(622-624)Gtg>Ttg	p.V208L	TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000359862.4_Missense_Mutation_p.V208L|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000533102.1_Missense_Mutation_p.V208L|TMEM25_ENST00000411589.2_Missense_Mutation_p.V208L|TMEM25_ENST00000354284.4_Missense_Mutation_p.V208L|TMEM25_ENST00000354064.7_Missense_Mutation_p.V104L|TMEM25_ENST00000442938.2_Missense_Mutation_p.V208L|TMEM25_ENST00000313236.5_Missense_Mutation_p.V208L			Q86YD3	TMM25_HUMAN	transmembrane protein 25	208						extracellular region|integral to membrane|plasma membrane		p.V208L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAACCTCTCGGTGGTGGCCAC	0.637000													3	16					6.4e-05	9.04759e-05	0.004672	1	0
MMD2	221938	broad.mit.edu	37	7	4965105	4965105	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:4965105C>G	ENST00000404774.3	-	2	300	c.106G>C	c.(106-108)Gcg>Ccg	p.A36P	MMD2_ENST00000406755.1_Missense_Mutation_p.A36P|MMD2_ENST00000401401.3_Missense_Mutation_p.A36P	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	36						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CAGTTGGCCGCATGTTCATAC	0.602000													18	95					0	0	0.008871	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763854	14763854	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:14763854G>A	ENST00000358984.4	+	7	1170	c.990G>A	c.(988-990)caG>caA	p.Q330Q	ANKRD30B_ENST00000447268.2_Silent_p.Q330Q|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	330										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGTTTGAACAGTCAACAGAAG	0.438000													4	20					0	0	0.000248	0	0
CSMD3	114788	broad.mit.edu	37	8	113358372	113358372	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:113358372G>T	ENST00000297405.5	-	41	6640	c.6396C>A	c.(6394-6396)ccC>ccA	p.P2132P	CSMD3_ENST00000455883.2_Silent_p.P2028P|CSMD3_ENST00000352409.3_Silent_p.P2062P|CSMD3_ENST00000343508.3_Silent_p.P2092P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2132	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAAACTGCTGGGATAGTTTC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	83					6.40141e-05	9.04759e-05	0.000978	1	0
ANO1	55107	broad.mit.edu	37	11	70013415	70013415	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:70013415G>T	ENST00000355303.5	+	21	2424	c.2119G>T	c.(2119-2121)Gtg>Ttg	p.V707L	ANO1_ENST00000398543.2_Missense_Mutation_p.V561L|ANO1_ENST00000538023.1_Missense_Mutation_p.V707L|ANO1_ENST00000530676.1_Missense_Mutation_p.V561L|ANO1_ENST00000531349.1_Missense_Mutation_p.V416L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	707					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGAGGAGTGTGTGAAGAGGAA	0.562000													11	37					4.68919e-08	7.67772e-08	0.008291	1	0
DEFB119	245932	broad.mit.edu	37	20	29978253	29978253	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:29978253G>A	ENST00000339144.3	-	1	140	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	DEFB119_ENST00000376315.2_Silent_p.L12L|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Silent_p.L12L			Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTATGGCCAGAAGGATGGCA	0.547000													6	119					0	0	0.001168	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959387	117959387	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:117959387C>A	ENST00000310164.2	+	4	687	c.180C>A	c.(178-180)acC>acA	p.T60T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	60					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						gggaagaaacctttgaaaact	0.537000													13	67					4.3838e-07	6.93356e-07	0.001855	1	0
ELAVL1	1994	broad.mit.edu	37	19	8056613	8056613	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:8056613C>G	ENST00000407627.2	-	2	216	c.87G>C	c.(85-87)caG>caC	p.Q29H	ELAVL1_ENST00000351593.5_Missense_Mutation_p.Q56H|ELAVL1_ENST00000596459.1_Missense_Mutation_p.Q29H|ELAVL1_ENST00000593807.1_Missense_Mutation_p.Q29H	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	29	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGTCATGTTCTGAGGGAGGT	0.438000													5	91					0	0	0.000602	0	0
NLRP14	338323	broad.mit.edu	37	11	7071070	7071070	+	Splice_Site	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:7071070G>T	ENST00000299481.4	+	6	2637		c.e6+1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGACTCTCAGGTAAGCTTTGA	0.398000													21	163					1.10513e-12	2.0975e-12	0.002299	1	0
DDX58	23586	broad.mit.edu	37	9	32466353	32466353	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:32466353C>G	ENST00000379882.1	-	15	2294	c.2137G>C	c.(2137-2139)Gaa>Caa	p.E713Q	DDX58_ENST00000542096.1_Missense_Mutation_p.E687Q|DDX58_ENST00000379868.1_Missense_Mutation_p.E555Q|DDX58_ENST00000379883.2_Missense_Mutation_p.E758Q			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	758	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.E758*(1)|p.E758K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATCATTTTTTCTTTGTACATG	0.368000													6	115					0	0	0.001168	0	0
ADD1	118	broad.mit.edu	37	4	2883715	2883715	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:2883715G>T	ENST00000355842.3	+	4	1149	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	ADD1_ENST00000398125.1_Missense_Mutation_p.D96Y|ADD1_ENST00000398129.1_Missense_Mutation_p.D96Y|ADD1_ENST00000264758.7_Missense_Mutation_p.D96Y|ADD1_ENST00000503455.2_Missense_Mutation_p.D96Y|ADD1_ENST00000446856.1_Missense_Mutation_p.D96Y|ADD1_ENST00000398123.2_Missense_Mutation_p.D96Y|ADD1_ENST00000513328.2_Missense_Mutation_p.D96Y			P35611	ADDA_HUMAN	adducin 1 (alpha)	96					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.D96Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGATTGCAGATTTTATGAC	0.413000													21	103					7.41877e-09	1.25903e-08	0.001882	1	0
PLXNA4	91584	broad.mit.edu	37	7	131982937	131982937	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:131982937C>T	ENST00000359827.3	-	4	2378	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	PLXNA4_ENST00000321063.4_Silent_p.T472T			Q9HCM2	PLXA4_HUMAN	plexin A4	472	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCTGCACCGTCTCATACT	0.597000													6	63					0	0	0.001984	0	0
FGF23	8074	broad.mit.edu	37	12	4488550	4488550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:4488550G>C	ENST00000237837.1	-	1	344	c.199C>G	c.(199-201)Cag>Gag	p.Q67E		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGATGGTCTGATGGGGTGCG	0.587000													4	95					0	0	0.000602	0	0
GPR156	165829	broad.mit.edu	37	3	119887088	119887088	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:119887088C>A	ENST00000464295.1	-	10	1681	c.1236G>T	c.(1234-1236)gcG>gcT	p.A412A	GPR156_ENST00000461057.1_Silent_p.A408A|GPR156_ENST00000315843.3_Silent_p.A412A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	412						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCGAGGCTACCGCCTGGACGT	0.612000													8	37					5.4927e-09	9.45966e-09	0.004482	1	0
CORO1C	23603	broad.mit.edu	37	12	109046107	109046107	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:109046107C>G	ENST00000261401.3	-	8	1114	c.942G>C	c.(940-942)caG>caC	p.Q314H	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.Q367H|CORO1C_ENST00000541050.1_Missense_Mutation_p.Q314H|CORO1C_ENST00000549772.1_Missense_Mutation_p.Q320H|CORO1C_ENST00000421578.2_Missense_Mutation_p.Q209H	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	314					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCATCCCTCTCTGAGGCTCCT	0.463000													11	116					0	0	0.001855	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411763	79411763	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:79411763C>T	ENST00000307745.7	+	12	2582	c.2582C>T	c.(2581-2583)cCc>cTc	p.P861L																								GGCCCTGTGCCCTCTGTCTTC	0.716000													7	38					0	0	0.004482	0	0
BTNL2	56244	broad.mit.edu	37	6	32363933	32363933	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:32363933C>T	ENST00000454136.3	-	5	965	c.961G>A	c.(961-963)Gag>Aag	p.E321K	BTNL2_ENST00000374995.3_Missense_Mutation_p.E227K|BTNL2_ENST00000540315.1_Missense_Mutation_p.E111K|BTNL2_ENST00000544175.1_Missense_Mutation_p.E44K|BTNL2_ENST00000374993.1_Missense_Mutation_p.E321K|BTNL2_ENST00000414363.1_Missense_Mutation_p.E111K|BTNL2_ENST00000429232.2_Missense_Mutation_p.E228K			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	321	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGTCTGCCCTCGTCAATGGCG	0.542000													4	53					0	0	0.000248	0	0
TBC1D23	55773	broad.mit.edu	37	3	100025388	100025388	+	Splice_Site	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:100025388G>A	ENST00000394144.4	+	13	1420		c.e13+1		TBC1D23_ENST00000486274.1_Splice_Site|TBC1D23_ENST00000344949.5_Splice_Site|TBC1D23_ENST00000475134.1_Splice_Site	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TTCTGTTGATGTAAGTATATG	0.408000													4	37					0	0	0.000248	0	0
VPS41	27072	broad.mit.edu	37	7	38785207	38785207	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:38785207C>T	ENST00000310301.4	-	23	1987	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	VPS41_ENST00000395969.2_Missense_Mutation_p.E620K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	645					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGACAGATCTCAAGAGCCTTC	0.323000													7	144					0	0	0.001984	0	0
MRPS35	60488	broad.mit.edu	37	12	27908252	27908252	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:27908252G>A	ENST00000081029.3	+	8	912	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	281					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AATAAATAAAGAAGAGCTCCT	0.333000													7	104					0	0	0.003080	0	0
SLIT1	6585	broad.mit.edu	37	10	98778853	98778853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:98778853G>T	ENST00000266058.4	-	27	3003	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	SLIT1_ENST00000371070.4_Missense_Mutation_p.L920M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	920					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACAGCCAGCGTTGGAGGA	0.657000													9	30					0.000442599	0.000598281	0.006214	1	0
MCM10	55388	broad.mit.edu	37	10	13234496	13234496	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:13234496C>T	ENST00000378694.1	+	12	1748	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	MCM10_ENST00000484800.2_Missense_Mutation_p.S559L|MCM10_ENST00000378714.3_Missense_Mutation_p.S558L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	559					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ATCTCGGCCTCAGCACTCTTG	0.527000													8	53					0	0	0.003080	0	0
KIAA1683	80726	broad.mit.edu	37	19	18375845	18375845	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:18375845C>T	ENST00000392413.3	-	3	2720	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P	KIAA1683_ENST00000600328.2_Silent_p.P835P|KIAA1683_ENST00000600359.2_Silent_p.P789P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	835			P -> L (in dbSNP:rs2277921).			mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGTGCCATCGGCGGCACCA	0.682000													7	60					0	0	0.003080	0	0
RAB28	9364	broad.mit.edu	37	4	13371561	13371561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:13371561T>A	ENST00000288723.4	-	7	816	c.602A>T	c.(601-603)tAc>tTc	p.Y201F	RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	201					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTCTTCCGGGTACTTCACTAT	0.343000													9	92					0	0	0.006214	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070188	70070188	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:70070188C>A	ENST00000446444.1	-	5	1278	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	424					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCAGCAGGTCTGTACTCGAC	0.413000													22	160					1.64293e-13	3.15688e-13	0.003330	1	0
DOCK4	9732	broad.mit.edu	37	7	111368367	111368367	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:111368367C>A	ENST00000428084.1	-	53	6163	c.5891G>T	c.(5890-5892)cGg>cTg	p.R1964L	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1955L|DOCK4_ENST00000494651.2_Missense_Mutation_p.R838L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1955					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGCCTGGGCCGCGGGCCGGG	0.612000													9	22					4.68919e-08	7.67772e-08	0.008291	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455257	84455257	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:84455257A>T	ENST00000377084.2	-	1	1271	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	129						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGATCGTCCAGCCCCAGAAA	0.468000													29	77					0	0	0.002096	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774002	140774002	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:140774002C>A	ENST00000398604.2	+	1	1622	c.1622C>A	c.(1621-1623)cCc>cAc	p.P541H	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGACCCGCCCCTCAGCAGC	0.602000													22	127					7.33532e-06	1.08975e-05	0.003954	1	0
BRD2	6046	broad.mit.edu	37	6	32942508	32942508	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:32942508G>T	ENST00000395289.2	+	3	1900	c.299G>T	c.(298-300)cGg>cTg	p.R100L	BRD2_ENST00000395287.1_Missense_Mutation_p.R100L|BRD2_ENST00000449085.2_Missense_Mutation_p.R53L|BRD2_ENST00000374831.4_Missense_Mutation_p.R100L|BRD2_ENST00000374825.4_Missense_Mutation_p.R100L|BRD2_ENST00000443797.2_5'UTR			P25440	BRD2_HUMAN	bromodomain containing 2	100	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGGCCATTCCGGCAGCCTGTG	0.537000													4	36					0.00024832	0.000339614	0.000248	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328754	88328754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:88328754C>T	ENST00000325089.6	+	2	1330	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P130S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	371	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCCCGGTGCCTTTGGAGTG	0.587000													6	71					0	0	0.001984	0	0
KIAA1109	84162	broad.mit.edu	37	4	123168473	123168473	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:123168473C>G	ENST00000264501.4	+	35	5846	c.5473C>G	c.(5473-5475)Cat>Gat	p.H1825D	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H1825D|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H1825D			Q2LD37	K1109_HUMAN	KIAA1109	1825					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTAAACATTCATCGAGTTCA	0.383000													6	81					0	0	0.003080	0	0
AKAP9	10142	broad.mit.edu	37	7	91724458	91724458	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:91724458A>T	ENST00000359028.2	+	40	9937	c.9712A>T	c.(9712-9714)Agt>Tgt	p.S3238C	AKAP9_ENST00000358100.2_Missense_Mutation_p.S3184C|AKAP9_ENST00000356239.3_Missense_Mutation_p.S3234C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3238					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTGGGACGCAGTGAAGAACG	0.403000			T	BRAF	papillary thyroid								11	38					0	0	0.002450	0	0
SEMA6A	57556	broad.mit.edu	37	5	115803377	115803377	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:115803377G>T	ENST00000343348.6	-	18	2583	c.1796C>A	c.(1795-1797)tCt>tAt	p.S599Y	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S599Y|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S616Y|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S26Y|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	599					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCCTCCCCTAGACTCATACCC	0.502000													7	23					1.06961e-07	1.73906e-07	0.003080	1	0
ANKRD26	22852	broad.mit.edu	37	10	27326211	27326211	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:27326211T>C	ENST00000376087.4	-	23	2766	c.2601A>G	c.(2599-2601)cgA>cgG	p.R867R	ANKRD26_ENST00000376070.3_Silent_p.R424R|ANKRD26_ENST00000436985.2_Silent_p.R883R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	866						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTCTGTTCTCGAGAAAGTT	0.363000													19	124					0	0	0.001523	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530240	80530240	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:80530240C>A	ENST00000295057.3	-	2	1361	c.705G>T	c.(703-705)ctG>ctT	p.L235L	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L235L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	235						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGAGCGAGTGCAGGGAGATGA	0.582000										HNSCC(69;0.2)			5	73					0.000602214	0.000800085	0.000602	1	0
ZNF266	10781	broad.mit.edu	37	19	9524671	9524671	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:9524671T>A	ENST00000592904.1	-	5	3006	c.930A>T	c.(928-930)caA>caT	p.Q310H	ZNF266_ENST00000588221.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000361451.2_Missense_Mutation_p.Q310H|ZNF266_ENST00000361151.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000588933.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000592292.1_Missense_Mutation_p.Q310H|ZNF266_ENST00000590306.1_Missense_Mutation_p.Q310H			Q14584	ZN266_HUMAN	zinc finger protein 266	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GTTCAGTAAGTTGAGAAGATC	0.383000													17	110					0	0	0.006122	0	0
HSH2D	84941	broad.mit.edu	37	19	16268375	16268375	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:16268375C>T	ENST00000593154.2	+	8	1361	c.830C>T	c.(829-831)cCc>cTc	p.P277L	HSH2D_ENST00000397372.4_Missense_Mutation_p.P187S|HSH2D_ENST00000253680.6_Missense_Mutation_p.P277S|HSH2D_ENST00000588246.1_Missense_Mutation_p.P277L	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	345						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						TCTCAAAAGCCCCTCACAGCC	0.617000													11	31					0	0	0.008291	0	0
INTS2	57508	broad.mit.edu	37	17	59988990	59988990	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:59988990G>C	ENST00000444766.3	-	7	944	c.869C>G	c.(868-870)gCt>gGt	p.A290G	INTS2_ENST00000251334.6_Missense_Mutation_p.A282G	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	290					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATCCTCACAAGCTTCATTTTT	0.408000													4	19					0	0	0.000248	0	0
RGAG1	57529	broad.mit.edu	37	X	109695632	109695632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:109695632C>A	ENST00000465301.2	+	3	2033	c.1787C>A	c.(1786-1788)aCa>aAa	p.T596K	RGAG1_ENST00000540313.1_Missense_Mutation_p.T596K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	596										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGAGAGACACAGCCTCAGGA	0.507000													13	83					5.50884e-06	8.21029e-06	0.001368	1	0
PCGF1	84759	broad.mit.edu	37	2	74734264	74734264	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:74734264C>G	ENST00000233630.6	-	2	1015	c.104G>C	c.(103-105)cGa>cCa	p.R35P	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	35	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GATCTTCACTCGAACCTCCTC	0.532000													3	28					0	0	0.004672	0	0
GPR149	344758	broad.mit.edu	37	3	154147231	154147231	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:154147231C>A	ENST00000389740.2	-	1	273	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCATTTTCAGCAGGGAAATTA	0.443000													7	65					0.00198382	0.00256957	0.001984	1	0
NRXN3	9369	broad.mit.edu	37	14	79181127	79181127	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:79181127G>A	ENST00000554719.1	+	5	1061	c.570G>A	c.(568-570)acG>acA	p.T190T	NRXN3_ENST00000335750.5_Silent_p.T190T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	196	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGGCGCACGCCATTCACCG	0.562000													32	150					0	0	0.002836	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209136	193209136	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:193209136C>G	ENST00000342695.4	-	6	907	c.585G>C	c.(583-585)tgG>tgC	p.W195C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.W195C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.W195C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGAGCAGTTTCCAAATTGGTG	0.348000													7	70					0	0	0.001984	0	0
HMMR	3161	broad.mit.edu	37	5	162911108	162911108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:162911108G>T	ENST00000416990.2	+	16	1971	c.1474G>T	c.(1474-1476)Gca>Tca	p.A492S	HMMR_ENST00000432118.2_Missense_Mutation_p.A520S|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Missense_Mutation_p.A606S|HMMR_ENST00000353866.3_Missense_Mutation_p.A591S|HMMR_ENST00000393915.4_Missense_Mutation_p.A607S|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	606						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AGAAAAACAGGCATTGTTGAA	0.289000													7	48					0.000157383	0.000217161	0.003080	1	0
DDX4	54514	broad.mit.edu	37	5	55082457	55082457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:55082457C>T	ENST00000505374.1	+	14	1068	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	326	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTGCAGGACGAGATTTGAT	0.413000													9	106					0	0	0.004482	0	0
OR6T1	219874	broad.mit.edu	37	11	123814338	123814338	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:123814338C>G	ENST00000321252.2	-	1	242	c.208G>C	c.(208-210)Gag>Cag	p.E70Q		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCAACAGCTCCAGGAAGGAG	0.498000													18	63					0	0	0.006122	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982338	9982338	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:9982338T>C	ENST00000506583.1	-	7	689	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	SLC2A9_ENST00000309065.3_Missense_Mutation_p.M158V|SLC2A9_ENST00000264784.3_Missense_Mutation_p.M187V			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	187					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTAAGGTACATGGGGAGCACA	0.557000													14	33					0	0	0.002450	0	0
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:108547831G>A	ENST00000526794.1	+	4	430	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000322536.3_Missense_Mutation_p.R133H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453000			T	NUP98	AML*								14	64					0	0	0.002450	0	0
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:26881626G>C	ENST00000231021.4	-	12	2161	c.1989C>G	c.(1987-1989)ggC>ggG	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438000													21	154					0	0	0.002780	0	0
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	A	rs57374291		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:89692835G>A	ENST00000371953.3	+	5	1676	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			16	116					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179423171	179423171	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:179423171C>G	ENST00000589042.1	-	327	87239	c.87015G>C	c.(87013-87015)ctG>ctC	p.L29005L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L27364L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L26437L|TTN_ENST00000342175.6_Silent_p.L20132L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.L20065L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.L19940L|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27364	Fibronectin type-III 111.						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)			AATTCTCTCTCAGACCGGAAA	0.438000													6	36					0	0	0.001984	0	0
LAYN	143903	broad.mit.edu	37	11	111431089	111431089	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:111431089G>A	ENST00000436913.2	+	6	997	c.596G>A	c.(595-597)gGa>gAa	p.G199E	LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.G344E|LAYN_ENST00000375615.3_Missense_Mutation_p.G352E|LAYN_ENST00000525126.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	352						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTGGAGAGTGGATTTGTGACC	0.463000													7	82					0	0	0.003080	0	0
PRKCB	5579	broad.mit.edu	37	16	24166071	24166071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:24166071G>A	ENST00000303531.7	+	10	1284	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	PRKCB_ENST00000321728.7_Missense_Mutation_p.V378M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	378	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGGACGTTGTGATCCAAGA	0.547000													7	39					0	0	0.003080	0	0
POTEH	23784	broad.mit.edu	37	22	16267022	16267022	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr22:16267022G>T	ENST00000343518.6	-	9	1478	c.1427C>A	c.(1426-1428)gCt>gAt	p.A476D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	476										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCATTGTCAGCAGTGGCACC	0.413000													27	412					8.58068e-18	1.71245e-17	0.007291	1	0
WDR44	54521	broad.mit.edu	37	X	117566802	117566802	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:117566802C>A	ENST00000254029.3	+	13	2191	c.1796C>A	c.(1795-1797)cCa>cAa	p.P599Q	WDR44_ENST00000371825.3_Missense_Mutation_p.P599Q|WDR44_ENST00000371822.5_Missense_Mutation_p.P574Q	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	599						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CGGCAACGGCCATTTTGCAAA	0.348000													38	146					1.22674e-20	2.48016e-20	0.008740	1	0
FGF5	2250	broad.mit.edu	37	4	81188179	81188179	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:81188179G>A	ENST00000456523.3	+	1	387	c.201G>A	c.(199-201)ctG>ctA	p.L67L	FGF5_ENST00000312465.7_Silent_p.L67L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	67					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CAGCTTCTCTGGGCAGCCAAG	0.627000													11	74					0	0	0.000978	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81154082	81154082	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:81154082T>A	ENST00000372336.3	-	3	748	c.562A>T	c.(562-564)Atg>Ttg	p.M188L	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.H128L	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	188							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TCCTGCCCCATGTTGGCCCAG	0.592000													10	92					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48411989	48411989	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:48411989T>C	ENST00000435803.1	+	33	11052	c.11028T>C	c.(11026-11028)aaT>aaC	p.N3676N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3676					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCAAGCTAATACAGCGGCCC	0.413000													35	112					0	0	0.003755	0	0
OR5H6	79295	broad.mit.edu	37	3	97983203	97983203	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:97983203G>T	ENST00000383696.2	+	1	116	c.75G>T	c.(73-75)ctG>ctT	p.L25L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAACATTGCTGACAGAGTTTG	0.393000													28	194					7.38237e-10	1.3003e-09	0.006320	1	0
ZNF528	84436	broad.mit.edu	37	19	52919325	52919325	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:52919325G>C	ENST00000360465.3	+	7	1646	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACTAGAGAGAGACCTTATGGA	0.398000													5	75					0	0	0.001168	0	0
APC	324	broad.mit.edu	37	5	112174586	112174586	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:112174586G>C	ENST00000457016.1	+	16	3675	c.3295G>C	c.(3295-3297)Gtt>Ctt	p.V1099L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V1099L|APC_ENST00000257430.4_Missense_Mutation_p.V1099L			P25054	APC_HUMAN	adenomatous polyposis coli	1099	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAGGAATGTGTTTCTCCATA	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	62					0	0	0.005443	0	0
KCNT2	343450	broad.mit.edu	37	1	196205163	196205163	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:196205163G>T	ENST00000367433.5	-	26	3278	c.3177C>A	c.(3175-3177)atC>atA	p.I1059I	KCNT2_ENST00000367431.4_Silent_p.I1017I|KCNT2_ENST00000294725.8_Silent_p.I1083I|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1083						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTTAATCAGGATGTAGGAGA	0.313000													32	178					1.414e-09	2.47184e-09	0.003755	1	0
MCM6	4175	broad.mit.edu	37	2	136626280	136626280	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:136626280G>C	ENST00000264156.2	-	4	576	c.516C>G	c.(514-516)ttC>ttG	p.F172L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	172					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTGTGTATTTGAACTGCTGTT	0.458000													10	107					0	0	0.001855	0	0
OR51L1	119682	broad.mit.edu	37	11	5021050	5021050	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:5021050G>T	ENST00000321543.1	+	1	838	c.838G>T	c.(838-840)Gac>Tac	p.D280Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATGGCAGACATCTACCT	0.458000													13	74					0.00316338	0.00408603	0.003163	1	0
EXO1	9156	broad.mit.edu	37	1	242048760	242048760	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:242048760G>T	ENST00000366548.3	+	15	2949	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	EXO1_ENST00000518483.1_Missense_Mutation_p.G786W|EXO1_ENST00000348581.5_Missense_Mutation_p.G786W	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	786	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAACAAGCCGGGGTTACAGAT	0.428000								Editing and processing nucleases					13	56					1.49906e-05	2.15143e-05	0.002450	1	0
GRK5	2869	broad.mit.edu	37	10	121212764	121212764	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:121212764G>A	ENST00000392870.2	+	15	1979	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	GRK5_ENST00000369108.3_Silent_p.L445L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	550					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGAAAGGGCTGCTCCAGAGAC	0.562000													9	85					0	0	0.008291	0	0
HSH2D	84941	broad.mit.edu	37	19	16268358	16268358	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:16268358C>G	ENST00000253680.6	+	9	1343	c.812C>G	c.(811-813)gCc>gGc	p.A271G	HSH2D_ENST00000593154.2_Silent_p.G271G|HSH2D_ENST00000397372.4_Missense_Mutation_p.A181G|HSH2D_ENST00000588246.1_Silent_p.G271G			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	271						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCCTGTGTGGCCACATCTCTC	0.607000													13	30					0	0	0.003163	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406028	105406028	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:105406028C>T	ENST00000333244.5	-	7	15879	c.15760G>A	c.(15760-15762)Gat>Aat	p.D5254N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D252N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5254						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTCTGCATCTGCCTCTGGG	0.517000													18	254					0	0	0.007413	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229215	124229215	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:124229215C>G	ENST00000330342.3	+	12	1646	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	466					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACACTGGCCTCATCTACAACG	0.532000													6	61					0	0	0.001168	0	0
ZFP28	140612	broad.mit.edu	37	19	57065506	57065506	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:57065506A>G	ENST00000301318.3	+	8	1423	c.1352A>G	c.(1351-1353)aAt>aGt	p.N451S	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TATAAATGTAATGAATGTGGG	0.428000													10	64					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139209815	139209815	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:139209815C>T	ENST00000395297.1	-	8	937	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	256										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGTGGAGACGGAGACCCCG	0.602000										HNSCC(54;0.14)			7	63					0	0	0.003080	0	0
ELAVL1	1994	broad.mit.edu	37	19	8056590	8056590	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:8056590C>T	ENST00000407627.2	-	2	239	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	ELAVL1_ENST00000351593.5_Missense_Mutation_p.R64Q|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R37Q|ELAVL1_ENST00000593807.1_Missense_Mutation_p.R37Q	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	37	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAACAGGCTTCGTAACTCATC	0.468000													10	109					0	0	0.000978	0	0
ENPP5	59084	broad.mit.edu	37	6	46135475	46135475	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:46135475C>A	ENST00000371383.2	-	3	785	c.525G>T	c.(523-525)acG>acT	p.T175T	ENPP5_ENST00000230565.3_Silent_p.T175T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	175						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GCTCTTTTGACGTAAACCATT	0.418000													9	87					1.12685e-05	1.64775e-05	0.004482	1	0
ZNF813	126017	broad.mit.edu	37	19	53994790	53994790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:53994790G>T	ENST00000396403.4	+	4	1432	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTCATAGTGGAGAGAAACCC	0.403000													8	53					1.12685e-05	1.64775e-05	0.004482	1	0
TSEN15	116461	broad.mit.edu	37	1	184041382	184041382	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:184041382A>C	ENST00000361641.1	+	4	524	c.445A>C	c.(445-447)Aca>Cca	p.T149P	TSEN15_ENST00000423085.2_Intron|TSEN15_ENST00000533373.1_Intron	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA processing	nucleolus	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						GTCTGATTCTACAATAGTCTA	0.388000													9	68					0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248059060	248059060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:248059060C>A	ENST00000537741.1	+	3	429	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	OR2W3_ENST00000360358.3_Missense_Mutation_p.P58T			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTCCACACCCCCATGTACTT	0.572000													20	137					5.26018e-13	1.00245e-12	0.001882	1	0
TLL2	7093	broad.mit.edu	37	10	98127859	98127859	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:98127859G>A	ENST00000357947.3	-	21	3259	c.3034C>T	c.(3034-3036)Cac>Tac	p.H1012Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	1012					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCTTCATGTGCAGGGCATCC	0.413000													15	49					0	0	0.002450	0	0
PSMD3	5709	broad.mit.edu	37	17	38151470	38151470	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:38151470G>T	ENST00000264639.4	+	8	1312	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	PSMD3_ENST00000541736.1_Missense_Mutation_p.D242Y	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	380	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCAGGTCCTGGATCAGTTTGG	0.517000													21	200					1.2644e-06	1.95332e-06	0.001523	1	0
QRICH2	84074	broad.mit.edu	37	17	74274093	74274093	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:74274093G>A	ENST00000262765.5	-	15	4775	c.4596C>T	c.(4594-4596)tgC>tgT	p.C1532C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1532							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGAGCCCAGGCACTGGGCGT	0.627000													5	59					0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85446009	85446009	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:85446009G>C	ENST00000393217.2	+	7	794	c.733G>C	c.(733-735)Gag>Cag	p.E245Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	245	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTTGGAAAGAGAAATTTAA	0.254000													4	80					0	0	0.001168	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214651	3214651	+	RNA	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:3214651A>G	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ATGGCCTATGACCGCTACCTG	0.557000													9	34					0	0	0.004482	0	0
RPL10A	4736	broad.mit.edu	37	6	35438059	35438059	+	Silent	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:35438059C>G	ENST00000322203.6	+	5	441	c.414C>G	c.(412-414)ctC>ctG	p.L138L	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	138					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CTTCCCTGCTCACACACAACG	0.488000													4	53					0	0	0.000248	0	0
IFNLR1	163702	broad.mit.edu	37	1	24507323	24507323	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:24507323G>A	ENST00000327535.1	-	2	92	c.80C>T	c.(79-81)cCc>cTc	p.P27L	IFNLR1_ENST00000374421.3_Missense_Mutation_p.P27L|IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000327575.2_Missense_Mutation_p.P27L|IFNLR1_ENST00000374418.3_Missense_Mutation_p.P27L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CACATTCTGGGGAGGGGCCAG	0.607000													4	30					0	0	0.000248	0	0
PLEC	5339	broad.mit.edu	37	8	145003898	145003898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:145003898C>A	ENST00000322810.4	-	23	3419	c.3250G>T	c.(3250-3252)Gga>Tga	p.G1084*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.G933*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G951*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G974*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G915*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.G925*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G947*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.G947*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1084	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTCGGGTCCGAAGCCGCCC	0.687000													8	7					0.000274275	0.000374012	0.004482	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060173	35060173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:35060173C>A	ENST00000373913.3	+	3	533	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P18Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P18Q|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P18Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	18					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCCTAGACCCACCCCACGAG	0.721000													4	49					3.59834e-05	5.1326e-05	0.001168	1	0
VEGFC	7424	broad.mit.edu	37	4	177648948	177648948	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:177648948C>A	ENST00000280193.2	-	3	951	c.536G>T	c.(535-537)aGc>aTc	p.S179I	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	179					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCTGAGGTAGCTCGTGCTGGT	0.512000													19	42					1.01871e-10	1.82896e-10	0.008871	1	0
SH2D4A	63898	broad.mit.edu	37	8	19218793	19218793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:19218793G>T	ENST00000265807.3	+	6	1085	c.674G>T	c.(673-675)aGc>aTc	p.S225I	SH2D4A_ENST00000519207.1_Missense_Mutation_p.S225I|SH2D4A_ENST00000518040.1_Missense_Mutation_p.S180I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	225						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATTTGTAAGAGCTGGAAAGAA	0.383000													5	30					1.06961e-07	1.73906e-07	0.003080	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697378	17697378	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:17697378G>C	ENST00000399080.2	-	1	2328	c.2305C>G	c.(2305-2307)Cag>Gag	p.Q769E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	769										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATGTCCCTGTTTTCTTTCC	0.338000													15	64					0	0	0.002450	0	0
WBP5	51186	broad.mit.edu	37	X	102612910	102612910	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:102612910T>A	ENST00000372661.3	+	3	609	c.298T>A	c.(298-300)Tac>Aac	p.Y100N	WBP5_ENST00000372656.3_Missense_Mutation_p.Y100N	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	100										breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AAaccatccttacccctattt	0.318000													14	55					0	0	0.001855	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827767	45827767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:45827767G>T	ENST00000314134.3	+	1	1811	c.415G>T	c.(415-417)Ggt>Tgt	p.G139C	SLC35C1_ENST00000456334.1_Missense_Mutation_p.G126C|SLC35C1_ENST00000442528.2_Missense_Mutation_p.G126C	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	139						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAAGTACGTCGGTGTGGCCTT	0.597000													13	42					1.5842e-08	2.67874e-08	0.001855	1	0
USP6NL	9712	broad.mit.edu	37	10	11505354	11505354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:11505354C>G	ENST00000379237.1	-	15	1967	c.1573G>C	c.(1573-1575)Gtg>Ctg	p.V525L	USP6NL_ENST00000277575.5_Missense_Mutation_p.V542L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	525						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACACCCGCACCTCGGCAGGA	0.622000													21	144					0	0	0.008871	0	0
ZNF548	147694	broad.mit.edu	37	19	57910517	57910517	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:57910517A>G	ENST00000366197.5	+	3	1112	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.K300E|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATGTGGGAAATTCTTTCG	0.448000													12	46					0	0	0.001855	0	0
PAK3	5063	broad.mit.edu	37	X	110439737	110439737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:110439737C>A	ENST00000519681.1	+	17	1781	c.1339C>A	c.(1339-1341)Cca>Aca	p.P447T	PAK3_ENST00000360648.4_Missense_Mutation_p.P462T|PAK3_ENST00000417227.1_Missense_Mutation_p.P447T|PAK3_ENST00000425146.1_Missense_Mutation_p.P426T|PAK3_ENST00000372007.4_Missense_Mutation_p.P426T|PAK3_ENST00000372010.1_Missense_Mutation_p.P441T|PAK3_ENST00000446737.1_Missense_Mutation_p.P426T|PAK3_ENST00000518291.1_Missense_Mutation_p.P462T|PAK3_ENST00000262836.4_Missense_Mutation_p.P441T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	441	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTGGGAACCCCATATTGGAT	0.458000										TSP Lung(19;0.15)			21	113					7.92952e-12	1.48081e-11	0.003954	1	0
ZBTB3	79842	broad.mit.edu	37	11	62520142	62520142	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:62520142G>A	ENST00000394807.3	-	2	1270	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGCTCCTCCAGATGGGAAAGC	0.562000													5	59					0	0	0.001168	0	0
MARCH6	10299	broad.mit.edu	37	5	10382001	10382001	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:10382001T>A	ENST00000274140.5	+	4	412	c.280T>A	c.(280-282)Ttt>Att	p.F94I	MARCH6_ENST00000503788.1_Intron|MARCH6_ENST00000449913.2_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	94					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ACGATATTGGTTTCATTATAC	0.398000													30	161					0	0	0.002096	0	0
F8	2157	broad.mit.edu	37	X	154227864	154227864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:154227864C>G	ENST00000360256.4	-	2	355	c.155G>C	c.(154-156)aGa>aCa	p.R52T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	52	F5/8 type A 1.|Plastocyanin-like 1.				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)	TTTTGGCACTCTAGGAGGAAA	0.408000													13	184					0	0	0.001855	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912800	94912800	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:94912800G>T	ENST00000334708.3	-	3	849	c.785C>A	c.(784-786)aCc>aAc	p.T262N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	262					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGGAGGACGGTGCAAGCCAA	0.532000													13	104					9.05144e-12	1.68357e-11	0.001855	1	0
NPHS1	4868	broad.mit.edu	37	19	36342418	36342418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:36342418C>A	ENST00000378910.5	-	2	214	c.215G>T	c.(214-216)gGc>gTc	p.G72V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G72V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	72	Ig-like C2-type 1.				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)			GGGGTCGGGGCCCAGGAGCAG	0.657000													6	20					5.9392e-07	9.29875e-07	0.001168	1	0
RXFP3	51289	broad.mit.edu	37	5	33937388	33937388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:33937388C>A	ENST00000330120.3	+	1	898	c.543C>A	c.(541-543)taC>taA	p.Y181*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	181						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGACGCGCTACCATTCGGTGG	0.642000													5	37					1.23904e-05	1.79487e-05	0.000602	1	0
HEATR1	55127	broad.mit.edu	37	1	236759177	236759177	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:236759177C>G	ENST00000366582.3	-	7	1026	c.912G>C	c.(910-912)ttG>ttC	p.L304F	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.L304F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	304					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAGCACTATCAAGCAACTTA	0.388000													4	63					0	0	0.000248	0	0
TNS4	84951	broad.mit.edu	37	17	38643371	38643371	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:38643371G>A	ENST00000254051.6	-	4	1363	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	402					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGAGAAGCAGCTCCAGGTTG	0.587000													73	175					0	0	0.003610	0	0
NCAM1	4684	broad.mit.edu	37	11	113102471	113102471	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:113102471C>T	ENST00000316851.7	+	9	1164	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	NCAM1_ENST00000533760.1_Silent_p.S270S|NCAM1_ENST00000401611.2_Silent_p.S397S|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	398	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCACCGCCAGCAACACCATCG	0.587000													15	61					0	0	0.006122	0	0
TAB3	257397	broad.mit.edu	37	X	30872883	30872883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:30872883C>A	ENST00000378933.1	-	3	1076	c.899G>T	c.(898-900)tGt>tTt	p.C300F	TAB3_ENST00000288422.2_Missense_Mutation_p.C300F|TAB3_ENST00000378932.2_Missense_Mutation_p.C300F|TAB3_ENST00000378930.3_Missense_Mutation_p.C300F	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	300	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGGTGAAGGACATTGAGAAGG	0.493000													7	35					2.7689e-08	4.61483e-08	0.001984	1	0
SLC1A6	6511	broad.mit.edu	37	19	15072885	15072885	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:15072885C>T	ENST00000598504.1	-	8	2223	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SLC1A6_ENST00000430939.2_Silent_p.K224K|SLC1A6_ENST00000600144.1_Silent_p.K288K|SLC1A6_ENST00000221742.3_Silent_p.K288K|SLC1A6_ENST00000544886.2_Silent_p.K288K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	288					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGACTCTGCCCTTGTGTTTCA	0.577000													17	71					0	0	0.006122	0	0
MBNL3	55796	broad.mit.edu	37	X	131518705	131518705	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:131518705G>A	ENST00000394311.2	-	6	792	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MBNL3_ENST00000538204.1_Intron|MBNL3_ENST00000370857.3_Intron|MBNL3_ENST00000370853.3_Missense_Mutation_p.P315L|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.P219L|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.P280L|MBNL3_ENST00000370849.3_Missense_Mutation_p.P265L	NM_001170703.1	NP_001164174.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	315					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					ATTTGAAGCGGGTGCCATGCA	0.323000													6	20					0	0	0.001168	0	0
AGAP2	116986	broad.mit.edu	37	12	58125342	58125342	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:58125342T>A	ENST00000257897.3	-	9	1114	c.1029A>T	c.(1027-1029)aaA>aaT	p.K343N	AGAP2_ENST00000547588.1_Missense_Mutation_p.K679N	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	679	Interaction with PLCG1 (By similarity).				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						CACTCACCTGTTTGATGGGGA	0.537000													12	59					0	0	0.000978	0	0
EIF3E	3646	broad.mit.edu	37	8	109240518	109240518	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:109240518C>A	ENST00000220849.5	-	7	762	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.D141Y	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	234					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGGAAGAGGTCAATAATATTA	0.353000													10	76					2.27111e-07	3.65421e-07	0.001368	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801013	185801013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:185801013A>T	ENST00000302277.6	+	4	1484	c.890A>T	c.(889-891)aAa>aTa	p.K297I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	297						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGAGATAAAAGAAGTCTCT	0.358000													10	45					0	0	0.006214	0	0
CXCR1	3577	broad.mit.edu	37	2	219029723	219029723	+	Missense_Mutation	SNP	C	C	T	rs147031882	byFrequency	TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:219029723C>T	ENST00000295683.2	-	2	332	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	71			R -> C (in dbSNP:rs1805038).		dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGTGACGGAGCGGCCGACCCT	0.562000													12	86					0	0	0.001855	0	0
TMEM135	65084	broad.mit.edu	37	11	87020658	87020658	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:87020658A>G	ENST00000340353.7	+	9	1016	c.814A>G	c.(814-816)Aat>Gat	p.N272D	TMEM135_ENST00000305494.5_Missense_Mutation_p.N294D|TMEM135_ENST00000535167.1_Missense_Mutation_p.N155D|TMEM135_ENST00000532959.1_Missense_Mutation_p.N165D	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	294						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTCTTCTACAATAAAGAAAA	0.398000													24	112					0	0	0.003330	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581868	84581868	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:84581868C>T	ENST00000286744.5	+	16	1949	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A	ADAMTSL3_ENST00000567476.1_Silent_p.A575A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	575	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGTCAGCCTGCAGTACCA	0.552000													6	60					0	0	0.003080	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948736	2948736	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:2948736G>A	ENST00000380520.1	-	6	2921	c.927C>T	c.(925-927)gaC>gaT	p.D309D	SERPINB6_ENST00000335686.5_Silent_p.D309D|SERPINB6_ENST00000380529.1_Silent_p.D309D|SERPINB6_ENST00000380539.1_Silent_p.D309D|SERPINB6_ENST00000380524.1_Silent_p.D309D|SERPINB6_ENST00000380546.3_Silent_p.D309D			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	309					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ACAGAGACAGGTCTGTCTGGG	0.562000													17	59					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	34					0	0	0.004482	0	0
BUB1	699	broad.mit.edu	37	2	111411040	111411040	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:111411040A>G	ENST00000535254.1	-	16	1944	c.1877T>C	c.(1876-1878)gTg>gCg	p.V626A	BUB1_ENST00000409311.1_Missense_Mutation_p.V646A|BUB1_ENST00000302759.6_Missense_Mutation_p.V646A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	646					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAAGGCACCACCATGTTTTC	0.368000													12	62					0	0	0.003163	0	0
PAX7	5081	broad.mit.edu	37	1	19027165	19027165	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:19027165C>A	ENST00000420770.2	+	6	888	c.805C>A	c.(805-807)Cgc>Agc	p.R269S	PAX7_ENST00000400661.3_Missense_Mutation_p.R267S|PAX7_ENST00000375375.3_Missense_Mutation_p.R269S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	269					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CAGTAACCGCCGCGCCCGTTG	0.652000			T	FOXO1A	alveolar rhabdomyosarcoma								11	38					0.000978159	0.00128125	0.000978	1	0
CROCCP3	114819	broad.mit.edu	37	1	16812113	16812113	+	RNA	SNP	G	G	A	rs142394748	by1000genomes	TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:16812113G>A	ENST00000263511.4	-	0	1438					NR_023386.1																						ATCCTTCTCCGGATTCTGCTT	0.607000													4	10					0	0	0.000248	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406952	105406952	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:105406952G>T	ENST00000333244.5	-	7	14955	c.14836C>A	c.(14836-14838)Cac>Aac	p.H4946N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4946						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTTCGTGGTCAGCATCT	0.542000													10	29					0.000978159	0.00128125	0.000978	1	0
NT5DC1	221294	broad.mit.edu	37	6	116432047	116432047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:116432047G>T	ENST00000319550.4	+	4	374	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	98							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GACTCCAGAGGTGCTGGCAGA	0.507000													6	26					1.6384e-10	2.93022e-10	0.001984	1	0
POM121	9883	broad.mit.edu	37	7	72398960	72398960	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:72398960G>C	ENST00000395270.1	+	7	1306	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	POM121_ENST00000434423.2_Missense_Mutation_p.E354Q|POM121_ENST00000446813.1_Missense_Mutation_p.E89Q|POM121_ENST00000358357.3_Missense_Mutation_p.E89Q|POM121_ENST00000257622.4_Missense_Mutation_p.E89Q	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	354	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCATTTGAGCCCCTGGT	0.453000													21	234					0	0	0.001882	0	0
MYO18B	84700	broad.mit.edu	37	22	26423142	26423142	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr22:26423142A>G	ENST00000335473.7	+	43	7452	c.7202A>G	c.(7201-7203)aAg>aGg	p.K2401R	MYO18B_ENST00000407587.2_Missense_Mutation_p.K2402R|MYO18B_ENST00000536101.1_Missense_Mutation_p.K2401R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2401						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.K2402R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACCTTGGAAAGGAGCCGCTT	0.597000													7	54					0	0	0.003080	0	0
NXPH3	11248	broad.mit.edu	37	17	47656497	47656497	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:47656497C>T	ENST00000328741.5	+	2	956	c.594C>T	c.(592-594)atC>atT	p.I198I	NXPH3_ENST00000513748.1_Silent_p.I198I	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	198	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CAGCCAAGATCTGCTCCCGAG	0.602000													7	97					0	0	0.003080	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163743	12163743	+	Silent	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:12163743G>T	ENST00000379388.2	+	9	7538	c.7206G>T	c.(7204-7206)ggG>ggT	p.G2402G	HIVEP1_ENST00000541134.1_Silent_p.G267G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2402					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGTTGGGGGGATCCATG	0.542000													11	78					2.80697e-09	4.87031e-09	0.000978	1	0
TBC1D25	4943	broad.mit.edu	37	X	48419159	48419159	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:48419159C>A	ENST00000376771.4	+	6	2204	c.1863C>A	c.(1861-1863)ctC>ctA	p.L621L	TBC1D25_ENST00000537536.1_Silent_p.L367L|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	621						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGTTCCTCTGCCTGGCCA	0.602000													14	70					4.93089e-13	9.43566e-13	0.002450	1	0
IDO2	169355	broad.mit.edu	37	8	39871174	39871174	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr8:39871174G>C	ENST00000502986.2	+	10	1091	c.849G>C	c.(847-849)caG>caC	p.Q283H	IDO2_ENST00000389060.4_Missense_Mutation_p.Q270H|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	270					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTGCAGCTCAGAGCACAGTGC	0.488000													5	47					0	0	0.000602	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782420	62782420	+	Nonsense_Mutation	SNP	G	G	T	rs146789686		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:62782420G>T	ENST00000336232.2	-	2	146	c.11C>A	c.(10-12)tCg>tAg	p.S4*	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Nonsense_Mutation_p.S4*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.S4*|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	4					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGGATCTCCGAGAAGGTCAT	0.582000													17	55					5.01169e-05	7.12672e-05	0.004990	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609204	21609204	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:21609204G>T	ENST00000425654.2	+	14	2112	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	CNKSR2_ENST00000543067.1_Missense_Mutation_p.E525D|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E574D|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E574D|CNKSR2_ENST00000485012.1_3'UTR	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	574					regulation of signal transduction	cytoplasm|membrane	protein binding	p.E574D(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGACTGTGAGGGCTGGCTTT	0.393000													23	136					2.89027e-11	5.29124e-11	0.002299	1	0
PRKCZ	5590	broad.mit.edu	37	1	2082357	2082357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:2082357G>T	ENST00000400921.2	+	6	950	c.267G>T	c.(265-267)aaG>aaT	p.K89N	PRKCZ_ENST00000400920.1_Missense_Mutation_p.K89N|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	272	Interaction with SQSTM1 (By similarity).|OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCGGTTGAAGAAGAATGACC	0.557000													5	34					0.000602214	0.000800085	0.000602	1	0
OTOL1	131149	broad.mit.edu	37	3	161221673	161221673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:161221673C>A	ENST00000327928.4	+	4	1377	c.1377C>A	c.(1375-1377)gaC>gaA	p.D459E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	459	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTGAGGATGACAGCATTTTTA	0.428000													6	36					0.00448238	0.00575775	0.004482	1	0
SPTBN5	51332	broad.mit.edu	37	15	42160769	42160769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr15:42160769C>A	ENST00000320955.6	-	33	6111	c.5884G>T	c.(5884-5886)Gtg>Ttg	p.V1962L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1962					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)		TCCTGGCGCACGCGGGCTGCC	0.697000													6	32					8.12818e-05	0.000113844	0.001984	1	0
NLRP3	114548	broad.mit.edu	37	1	247587618	247587618	+	Silent	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:247587618G>C	ENST00000366497.2	+	4	1653	c.873G>C	c.(871-873)gtG>gtC	p.V291V	NLRP3_ENST00000366496.2_Silent_p.V291V|NLRP3_ENST00000336119.3_Silent_p.V291V|NLRP3_ENST00000391827.2_Silent_p.V291V|NLRP3_ENST00000348069.2_Silent_p.V291V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.V291V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAAGATCGTGAGAAAACCCT	0.567000													12	86					0	0	0.000978	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818967	200818967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:200818967G>T	ENST00000358823.2	+	11	3340	c.3070G>T	c.(3070-3072)Gat>Tat	p.D1024Y	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1008Y|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D1035Y	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1035						cytoplasm|microtubule	protein binding										ATGTTTTGGGGATGATGGAGA	0.433000													13	96					7.03913e-09	1.20782e-08	0.001368	1	0
PKHD1	5314	broad.mit.edu	37	6	51751952	51751952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:51751952T>A	ENST00000371117.3	-	44	7363	c.7088A>T	c.(7087-7089)aAc>aTc	p.N2363I	PKHD1_ENST00000340994.4_Missense_Mutation_p.N2363I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2363					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCAATGTTCTGAGTGAA	0.418000													13	66					0	0	0.003163	0	0
CDH23	64072	broad.mit.edu	37	10	73537642	73537642	+	Missense_Mutation	SNP	G	G	T	rs111033475		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:73537642G>T	ENST00000224721.6	+	38	5071	c.5066G>T	c.(5065-5067)cGc>cTc	p.R1689L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1684	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACACCTTCCGCATCGACAGA	0.567000													4	17					2.56e-06	3.87752e-06	0.000248	1	0
TAF1D	79101	broad.mit.edu	37	11	93469410	93469410	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:93469410C>T	ENST00000448108.2	-	6	1404	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GTAATATCCTCTTCTTCTAAG	0.363000													6	84					0	0	0.003080	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917607	46917607	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:46917607C>G	ENST00000429979.1	-	15	2506	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Q477H|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S583T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.Q634H|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.Q499H|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.Q477H|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S583T|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Q567H	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	634										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACTGGAAGCACTGTTTGTGAA	0.527000													4	30					0	0	0.001168	0	0
ACBD5	91452	broad.mit.edu	37	10	27508745	27508745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:27508745C>A	ENST00000396271.3	-	6	658	c.532G>T	c.(532-534)Gtt>Ttt	p.V178F	ACBD5_ENST00000375888.1_Missense_Mutation_p.V187F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.V69F|ACBD5_ENST00000375905.4_Missense_Mutation_p.V143F|ACBD5_ENST00000375901.1_Missense_Mutation_p.V69F	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	187					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTACCATTAACGGTTTTGGCG	0.383000													14	88					0.000151284	0.000209992	0.001855	1	0
POTEC	388468	broad.mit.edu	37	18	14542680	14542680	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:14542680C>A	ENST00000358970.5	-	1	465	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	156								p.D156Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACGATGAGATCCTTTCTGGGG	0.582000													17	123					1.67942e-08	2.82945e-08	0.006122	1	0
OLFM4	10562	broad.mit.edu	37	13	53602981	53602981	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:53602981G>T	ENST00000219022.2	+	1	88	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	4					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATGAGGCCCGGCCTCTCATT	0.582000													18	108					3.99206e-14	7.76697e-14	0.007413	1	0
OR4K1	79544	broad.mit.edu	37	14	20404272	20404272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:20404272G>T	ENST00000285600.4	+	1	506	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTATTTCCTGGGCGGTGGGCG	0.458000													10	73					0.000442599	0.000598281	0.006214	1	0
ZNF318	24149	broad.mit.edu	37	6	43323306	43323306	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:43323306T>A	ENST00000361428.2	-	4	1843	c.1766A>T	c.(1765-1767)tAt>tTt	p.Y589F	ZNF318_ENST00000318149.3_Missense_Mutation_p.Y589F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	589					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATCTTCGCATATTCTGGATT	0.493000													24	154					0	0	0.002780	0	0
TLR8	51311	broad.mit.edu	37	X	12938714	12938714	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:12938714C>G	ENST00000218032.6	+	2	1642	c.1555C>G	c.(1555-1557)Caa>Gaa	p.Q519E	TLR8_ENST00000311912.5_Missense_Mutation_p.Q537E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	519					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGCAATGCTCAAGTGTTAAG	0.353000													5	49					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543159	133543159	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:133543159G>T	ENST00000409261.1	-	14	1598	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q409K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	409							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCGCTTCTGTAGCTTTCTT	0.403000													9	63					0.00621372	0.00793785	0.006214	1	0
IQCJ	654502	broad.mit.edu	37	3	158983034	158983034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:158983034C>A	ENST00000482126.1	+	4	346	c.241C>A	c.(241-243)Cct>Act	p.P81T	IQCJ_ENST00000451172.1_Missense_Mutation_p.P108T|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAAGATTCATCCTTACATCTC	0.463000													14	108					1.52009e-12	2.87334e-12	0.003163	1	0
ALG9	79796	broad.mit.edu	37	11	111724370	111724370	+	Splice_Site	SNP	A	A	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:111724370A>G	ENST00000524880.1	-	11	1782		c.e11+1		ALG9_ENST00000398006.2_Splice_Site|ALG9_ENST00000531154.1_Splice_Site|ALG9_ENST00000527228.1_Splice_Site			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGAAAACTCACCAGAAATAG	0.368000													18	57					0	0	0.007413	0	0
TRRAP	8295	broad.mit.edu	37	7	98554089	98554089	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:98554089G>C	ENST00000359863.4	+	42	6352	c.6143G>C	c.(6142-6144)aGa>aCa	p.R2048T	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2029T|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2030T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2048	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCATTAAGAGAGGCCTGTCC	0.512000													11	93					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179477675	179477675	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:179477675C>T	ENST00000589042.1	-	265	49997	c.49773G>A	c.(49771-49773)ctG>ctA	p.L16591L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.L14950L|TTN_ENST00000342992.6_Silent_p.L14023L|TTN_ENST00000342175.6_Silent_p.L7718L|TTN_ENST00000359218.5_Silent_p.L7651L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L7526L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14950	Fibronectin type-III 20.						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)			TTCCAGTCTTCAGCATTTCAA	0.468000													5	34					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179477662	179477662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:179477662C>G	ENST00000589042.1	-	265	50010	c.49786G>C	c.(49786-49788)Gat>Cat	p.D16596H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14955H|TTN_ENST00000342992.6_Missense_Mutation_p.D14028H|TTN_ENST00000342175.6_Missense_Mutation_p.D7723H|TTN_ENST00000359218.5_Missense_Mutation_p.D7656H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7531H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14955	Fibronectin type-III 20.						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)			ACCCACTCATCTGTTCCAGTC	0.473000													3	32					0	0	0.004672	0	0
DSC1	1823	broad.mit.edu	37	18	28734892	28734892	+	Splice_Site	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:28734892T>A	ENST00000257197.3	-	5	733	c.471_splice	c.e5-1	p.I158_splice	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Splice_Site_p.I158_splice	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	158	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCAGATTGGATCTGCAGTAAT	0.368000													5	56					0	0	0.001984	0	0
GRM5	2915	broad.mit.edu	37	11	88386449	88386449	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:88386449C>T	ENST00000418177.2	-	4	1401	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	GRM5_ENST00000393297.1_Missense_Mutation_p.R345Q|GRM5_ENST00000305447.4_Missense_Mutation_p.R345Q|GRM5_ENST00000305432.5_Missense_Mutation_p.R345Q|GRM5_ENST00000455756.2_Missense_Mutation_p.R345Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	345					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGTTTCTGGCCGGAGCTTCAG	0.463000													10	69					0	0	0.008291	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520804	62520804	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:62520804G>A	ENST00000394807.3	-	2	608	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ACACCTTGACGATGTCATTCA	0.557000													10	121					0	0	0.006214	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24471069	24471069	+	Silent	SNP	T	T	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:24471069T>C	ENST00000382137.3	-	1	125	c.57A>G	c.(55-57)tcA>tcG	p.S19S	C1QTNF9B_ENST00000382145.1_Silent_p.S19S|C1QTNF9B_ENST00000382140.2_Silent_p.S19S|C1QTNF9B_ENST00000382057.3_Silent_p.S19S|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	19						collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGTGTCCTGTGAGTTTATGT	0.532000													10	61					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237947676	237947676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:237947676G>T	ENST00000366574.2	+	90	12981	c.12664G>T	c.(12664-12666)Gag>Tag	p.E4222*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4228*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4206*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4222					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAAGCGAGAAGGAGAG	0.542000													5	43					0.000602214	0.000800085	0.000602	1	0
ZNF77	58492	broad.mit.edu	37	19	2939382	2939382	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:2939382C>A	ENST00000314531.4	-	2	119	c.27G>T	c.(25-27)gtG>gtT	p.V9V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCACAGCCACTTCCTCAA	0.552000													8	73					1.58986e-06	2.42389e-06	0.008291	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187796	58187796	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:58187796G>T	ENST00000318203.5	+	3	980	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	95	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTATGATTGGTGGCCACTG	0.398000													13	62					4.3838e-07	6.93356e-07	0.001855	1	0
SRSF6	6431	broad.mit.edu	37	20	42089452	42089452	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr20:42089452C>G	ENST00000244020.3	+	6	890	c.784C>G	c.(784-786)Cga>Gga	p.R262G		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	262	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCACATTCTCGAAGCAGATC	0.458000													4	31					0	0	0.000248	0	0
GRM2	2912	broad.mit.edu	37	3	51749622	51749622	+	Silent	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:51749622T>A	ENST00000395052.3	+	4	2067	c.1833T>A	c.(1831-1833)ggT>ggA	p.G611G	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	611					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGCTGGGTGGTGTCTTCC	0.577000													16	79					0	0	0.003163	0	0
CEP41	95681	broad.mit.edu	37	7	130040584	130040584	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:130040584C>G	ENST00000223208.4	-	9	991	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CEP41_ENST00000541543.1_Missense_Mutation_p.E225Q|CEP41_ENST00000343969.5_Missense_Mutation_p.E241Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	241	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											AATCCACGCTCGCACATGGTG	0.498000													5	22					0	0	0.001168	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928640	10928640	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:10928640A>T	ENST00000283141.6	+	18	1741	c.1445A>T	c.(1444-1446)cAg>cTg	p.Q482L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	482						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccatagcttcagccggtccct	0.453000													7	40					0	0	0.001984	0	0
FST	10468	broad.mit.edu	37	5	52781838	52781838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr5:52781838C>T	ENST00000256759.3	+	6	1393	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	337					hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TACAGCTTTCCTATATCTTCT	0.378000													16	112					0	0	0.007413	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158681	48158681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:48158681C>T	ENST00000418331.2	+	10	2352	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	667	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTGGAAATTCCAGCAACGCA	0.453000													10	126					0	0	0.000978	0	0
ESYT3	83850	broad.mit.edu	37	3	138183186	138183186	+	Splice_Site	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:138183186G>C	ENST00000389567.4	+	9	1101		c.e9-1			NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3							integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACATTTTCCAGGGGGTGATCA	0.572000													6	47					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237754046	237754046	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:237754046G>T	ENST00000366574.2	+	31	4231	c.3914G>T	c.(3913-3915)aGc>aTc	p.S1305I	RYR2_ENST00000360064.6_Missense_Mutation_p.S1303I|RYR2_ENST00000542537.1_Missense_Mutation_p.S1289I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1305	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCGCCTGAGCATGCCGATC	0.502000													21	145					1.96292e-10	3.49716e-10	0.001523	1	0
MAP3K4	4216	broad.mit.edu	37	6	161527737	161527737	+	Splice_Site	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:161527737G>T	ENST00000392142.4	+	20	4196	c.4048_splice	c.e20+1	p.G1350_splice	MAP3K4_ENST00000366919.2_Splice_Site_p.G1300_splice|MAP3K4_ENST00000366920.2_Splice_Site_p.G1346_splice|MAP3K4_ENST00000348824.7_Splice_Site_p.G1296_splice	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1350	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAACAAAATTGGTAAGGAAAT	0.378000													16	42					6.72482e-11	1.21675e-10	0.003163	1	0
DNAH8	1769	broad.mit.edu	37	6	38980305	38980305	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:38980305C>G	ENST00000359357.3	+	89	13209	c.12955C>G	c.(12955-12957)Ctg>Gtg	p.L4319V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L4283V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGTCCACACTGGGCTTCTG	0.418000													7	173					0	0	0.004482	0	0
SAGE1	55511	broad.mit.edu	37	X	134983716	134983716	+	Splice_Site	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:134983716A>T	ENST00000535938.1	+	3	254		c.e3-1		SAGE1_ENST00000370709.3_Splice_Site|SAGE1_ENST00000324447.3_Splice_Site|SAGE1_ENST00000537770.1_Splice_Site	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1											breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATGTTTTTCAGCAAATGAGG	0.368000													15	130					0	0	0.003163	0	0
STT3A	3703	broad.mit.edu	37	11	125475572	125475572	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:125475572C>G	ENST00000392708.4	+	7	716	c.557C>G	c.(556-558)gCa>gGa	p.A186G	STT3A_ENST00000531491.1_Missense_Mutation_p.A94G|STT3A_ENST00000529196.1_Missense_Mutation_p.A186G	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	186					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGGATCAAGGCAGTAAAGACT	0.403000													24	123					0	0	0.003330	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	17					9.70103e-10	1.70226e-09	0.008291	1	0
RFT1	91869	broad.mit.edu	37	3	53145859	53145859	+	Silent	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr3:53145859C>T	ENST00000296292.3	-	7	823	c.762G>A	c.(760-762)caG>caA	p.Q254Q	RFT1_ENST00000394738.3_Silent_p.Q215Q	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	254					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTGTCAAAATCTGTTTCAAGA	0.408000													6	94					0	0	0.001168	0	0
ALPK2	115701	broad.mit.edu	37	18	56203730	56203730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr18:56203730C>A	ENST00000361673.3	-	5	3902	c.3689G>T	c.(3688-3690)tGg>tTg	p.W1230L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1230							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCCTGCCTCCCAATTTCCAGG	0.468000													19	128					4.35082e-09	7.52093e-09	0.001523	1	0
THSD7A	221981	broad.mit.edu	37	7	11675887	11675887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:11675887C>A	ENST00000423059.3	-	2	1143	c.892G>T	c.(892-894)Gag>Tag	p.E298*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	298						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTAATAAGCTCGCGGGCTTCT	0.458000										HNSCC(18;0.044)			19	126					2.35188e-11	4.33978e-11	0.006122	1	0
LOC81691	81691	broad.mit.edu	37	16	20838515	20838515	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr16:20838515G>A	ENST00000261377.6	+	9	1166	c.957G>A	c.(955-957)ctG>ctA	p.L319L	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.L319L|AC004381.6_ENST00000348433.6_Silent_p.L319L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TCAGAGCACTGAAAGTGAGTA	0.433000													9	126					0	0	0.008291	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591725	7591725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr19:7591725G>T	ENST00000264079.6	+	4	609	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	162					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAATGGCTCAGGGCTTGCTCT	0.617000													8	36					0.000673444	0.000892169	0.008291	1	0
ZNF777	27153	broad.mit.edu	37	7	149129311	149129311	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:149129311G>A	ENST00000247930.4	-	6	2375	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	684					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)			CCGCGTGCACGCGCTGATGGA	0.632000													7	85					0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155157032	155157032	+	Silent	SNP	A	A	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:155157032A>T	ENST00000357232.3	-	25	7406	c.7407T>A	c.(7405-7407)ccT>ccA	p.P2469P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2469	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAAAAGAAAGGAGATGAGG	0.368000													22	94					0	0	0.002780	0	0
TBR1	10716	broad.mit.edu	37	2	162280694	162280694	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:162280694G>A	ENST00000389554.3	+	6	2322	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	TBR1_ENST00000410035.1_Missense_Mutation_p.A382T|AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	669						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAAGAACTGCGCCAAGGACAT	0.706000													4	9					0	0	0.000248	0	0
NAV3	89795	broad.mit.edu	37	12	78443841	78443841	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:78443841G>A	ENST00000397909.2	+	10	2265	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	NAV3_ENST00000228327.6_Missense_Mutation_p.E698K|NAV3_ENST00000266692.7_Missense_Mutation_p.E698K|NAV3_ENST00000536525.2_Missense_Mutation_p.E698K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	698						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAATTTAGAAGAGACTATGTC	0.333000										HNSCC(70;0.22)			9	47					0	0	0.000978	0	0
ABCB4	5244	broad.mit.edu	37	7	87082309	87082309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:87082309C>A	ENST00000265723.4	-	6	598	c.487G>T	c.(487-489)Gga>Tga	p.G163*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.G163*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.G163*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.G163*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.G163*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	163	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCAAACCATCCTATTTCCTGT	0.388000													15	51					1.3612e-06	2.09589e-06	0.003163	1	0
TRAV1-2	28692	broad.mit.edu	37	14	22111117	22111117	+	RNA	SNP	A	A	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:22111117A>C	ENST00000390423.2	+	0	9																											CACCCACATGAAGTGTCTACC	0.498000													3	19					0	0	0.004672	0	0
EYS	346007	broad.mit.edu	37	6	66054047	66054047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:66054047C>T	ENST00000503581.1	-	10	2020	c.1483G>A	c.(1483-1485)Ggg>Agg	p.G495R	EYS_ENST00000370618.3_Missense_Mutation_p.G495R|EYS_ENST00000370621.3_Missense_Mutation_p.G495R|EYS_ENST00000342421.5_Missense_Mutation_p.G495R|EYS_ENST00000393380.2_Missense_Mutation_p.G495R|EYS_ENST00000370616.2_Missense_Mutation_p.G495R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	495					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCAATAACCCCTTGGCACTTT	0.348000													7	58					0	0	0.001984	0	0
CUBN	8029	broad.mit.edu	37	10	16975228	16975228	+	Silent	SNP	C	C	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:16975228C>A	ENST00000377833.4	-	40	6047	c.5982G>T	c.(5980-5982)ccG>ccT	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507000													10	42					4.68919e-08	7.67772e-08	0.008291	1	0
HIPK2	28996	broad.mit.edu	37	7	139415871	139415871	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr7:139415871G>C	ENST00000406875.3	-	2	1057	c.963C>G	c.(961-963)atC>atG	p.I321M	HIPK2_ENST00000428878.2_Missense_Mutation_p.I321M|HIPK2_ENST00000342645.6_Missense_Mutation_p.I321M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	321	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTCAGCGTGGATAAGACCTA	0.493000													5	57					0	0	0.000602	0	0
AACS	65985	broad.mit.edu	37	12	125626718	125626718	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr12:125626718C>G	ENST00000545511.1	+	7	5485	c.498C>G	c.(496-498)ttC>ttG	p.F166L	AACS_ENST00000316543.10_Missense_Mutation_p.F252L|AACS_ENST00000316519.6_Missense_Mutation_p.F654L|AACS_ENST00000261686.6_Missense_Mutation_p.L587V|AACS_ENST00000543665.1_Missense_Mutation_p.F86L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	654					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGGTGCTTTCTCGAACCCCG	0.567000													10	57					0	0	0.006214	0	0
NPAS3	64067	broad.mit.edu	37	14	34243708	34243708	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr14:34243708G>T	ENST00000346562.2	+	7	996	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	NPAS3_ENST00000357798.5_Missense_Mutation_p.D327Y|NPAS3_ENST00000356141.4_Missense_Mutation_p.D340Y|NPAS3_ENST00000551492.1_Missense_Mutation_p.D345Y|NPAS3_ENST00000548645.1_Missense_Mutation_p.D310Y	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGTAAATATGGACCTCAATAT	0.443000													11	88					0.000978159	0.00128125	0.000978	1	0
FAT4	79633	broad.mit.edu	37	4	126239597	126239597	+	Silent	SNP	G	G	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:126239597G>A	ENST00000394329.3	+	1	2044	c.2031G>A	c.(2029-2031)gtG>gtA	p.V677V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	677	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCATAAATGTGAGTCTTCTGG	0.493000													6	81					0	0	0.003080	0	0
OR8I2	120586	broad.mit.edu	37	11	55861085	55861085	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr11:55861085T>A	ENST00000302124.2	+	1	333	c.302T>A	c.(301-303)aTg>aAg	p.M101K	OR8I2_ENST00000560768.1_Missense_Mutation_p.M101K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTGTTCAAATGTACTTTTTT	0.393000													26	154					0	0	0.004656	0	0
GAS7	8522	broad.mit.edu	37	17	9837548	9837548	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:9837548C>G	ENST00000396115.1	-	9	950	c.640G>C	c.(640-642)Gcg>Ccg	p.A214P	GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.A226P|GAS7_ENST00000585266.1_Missense_Mutation_p.A210P|GAS7_ENST00000323816.4_Missense_Mutation_p.A210P|GAS7_ENST00000437099.2_Missense_Mutation_p.A210P|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.A134P|GAS7_ENST00000432992.2_Missense_Mutation_p.A274P|GAS7_ENST00000542249.1_Missense_Mutation_p.A219P	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	274	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGGGCCCACGCCTCTCCCAAG	0.597000			T	MLL	AML*								3	6					0	0	0.004672	0	0
WDR78	79819	broad.mit.edu	37	1	67327965	67327965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:67327965delC	ENST00000371026.3	-	7	1016	c.961delG	c.(961-963)atfs	p.D321fs	WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Del_p.D321fs|WDR78_ENST00000431318.1_Frame_Shift_Del_p.D67fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	321										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCATACAAATCCCAGGCAGTG	0.323													7	46	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240601376	240601376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr1:240601376delG	ENST00000319653.9	+	16	5156	c.4926delG	c.(4924-4926)acfs	p.T1642fs	FMN2_ENST00000545751.1_Frame_Shift_Del_p.T238fs	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1642	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGAGACCACGGCATATTTCT	0.378													19	131	---	---	---	---					
DYNC2LI1	51626	broad.mit.edu	37	2	44016794	44016794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:44016794delG	ENST00000398823.2	+	5	329	c.254delG	c.(253-255)tgfs	p.W85fs	DYNC2LI1_ENST00000406852.3_Frame_Shift_Del_p.W85fs|DYNC2LI1_ENST00000605786.1_Frame_Shift_Del_p.W85fs|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000260605.8_Frame_Shift_Del_p.W85fs|DYNC2LI1_ENST00000443170.3_5'UTR			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	85						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTCACTTTTGGGAACTCGGT	0.373													17	125	---	---	---	---					
SPTBN1	6711	broad.mit.edu	37	2	54826305	54826316	+	In_Frame_Del	DEL	CACAGACCTGTA	CACAGACCTGTA	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr2:54826305_54826316delCACAGACCTGTA	ENST00000333896.5	+	2	571_582	c.186_197delCACAGACCTGTA	c.(184-198)atc>at	p.ITDLY62del	SPTBN1_ENST00000356805.4_In_Frame_Del_p.ITDLY75del	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	75	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTGCCGGATCACAGACCTGTACACTGACCTT	0.542													11	73	---	---	---	---					
GC	2638	broad.mit.edu	37	4	72649702	72649702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr4:72649702delC	ENST00000273951.8	-	1	377	c.34delG	c.(34-36)cafs	p.A12fs	GC_ENST00000513476.1_Frame_Shift_Del_p.A12fs|GC_ENST00000504199.1_Frame_Shift_Del_p.A31fs	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	12					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TGTCCAAATGCCACAGCAAGC	0.383													10	77	---	---	---	---					
FCN1	2219	broad.mit.edu	37	9	137801876	137801876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr9:137801876delC	ENST00000371806.3	-	9	840	c.749delG	c.(748-750)gcfs	p.G250fs		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	250	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTTGTTGTGGCCCGTTAGAGA	0.502													8	266	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24835122	24835122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:24835122delG	ENST00000376454.3	+	21	5731	c.5701delG	c.(5701-5703)ccfs	p.A1901fs	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.A1222fs|KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.A1332fs|KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.A1307fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1901	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						tccttctcctgcctcctccgt	0.532													8	63	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129906484	129906499	+	Frame_Shift_Del	DEL	CTGCCAGGTAAAGTTC	CTGCCAGGTAAAGTTC	-	rs144673755		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr10:129906484_129906499delCTGCCAGGTAAAGTTC	ENST00000368654.3	-	13	3980_3995	c.3605_3620delGAACTTTACCTGGCAG	c.(3604-3621)gcfs	p.GTLPGS1202fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.GTLPGS842fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1202	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTCTTTTGCTGCCAGGTAAAGTTCCTGCCAGGTC	0.500													12	228	---	---	---	---					
EDNRB	1910	broad.mit.edu	37	13	78477331	78477332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:78477331_78477332insT	ENST00000377211.4	-	4	1182_1183	c.1030_1031insA	c.(1030-1032)ctgfs	p.L344fs	EDNRB_ENST00000446573.1_Frame_Shift_Ins_p.L254fs|EDNRB_ENST00000334286.5_Frame_Shift_Ins_p.L254fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	254					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGCAAGCAGATTCGCAGATAA	0.371													35	133	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													7	48	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	3	---	---	---	---					
ABCA8	10351	broad.mit.edu	37	17	66883566	66883566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chr17:66883566delG	ENST00000269080.2	-	23	3243	c.3106delC	c.(3106-3108)tgfs	p.L1036fs	ABCA8_ENST00000586539.1_Frame_Shift_Del_p.L1076fs|ABCA8_ENST00000430352.2_Frame_Shift_Del_p.L1076fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1036						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGAAGTACAGGGAAACATCC	0.413													28	215	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47028738	47028738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	55cd9373-3833-4d01-befb-7ede3d56deb3	g.chrX:47028738delC	ENST00000377604.3	+	3	784	c.42delC	c.(40-42)ggfs	p.G14fs	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Del_p.G14fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.G14fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	14					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACAGGACTGGCCGCTATGGAG	0.582													16	37	---	---	---	---					
WDR78	79819	broad.mit.edu	37	1	67327965	67327965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:67327965delC	ENST00000371026.3	-	7	1016	c.961delG	c.(961-963)atfs	p.D321fs	WDR78_ENST00000371023.3_Frame_Shift_Del_p.D321fs|WDR78_ENST00000431318.1_Frame_Shift_Del_p.D67fs|WDR78_ENST00000493572.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	321										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCATACAAATCCCAGGCAGTG	0.323													7	46	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240601376	240601376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr1:240601376delG	ENST00000319653.9	+	16	5156	c.4926delG	c.(4924-4926)acfs	p.T1642fs	FMN2_ENST00000545751.1_Frame_Shift_Del_p.T238fs	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1642	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGAGACCACGGCATATTTCT	0.378													19	131	---	---	---	---					
DYNC2LI1	51626	broad.mit.edu	37	2	44016794	44016794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:44016794delG	ENST00000398823.2	+	5	329	c.254delG	c.(253-255)tgfs	p.W85fs	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000406852.3_Frame_Shift_Del_p.W85fs|DYNC2LI1_ENST00000605786.1_Frame_Shift_Del_p.W85fs|DYNC2LI1_ENST00000260605.8_Frame_Shift_Del_p.W85fs			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	85						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTCACTTTTGGGAACTCGGT	0.373													17	125	---	---	---	---					
SPTBN1	6711	broad.mit.edu	37	2	54826305	54826316	+	In_Frame_Del	DEL	CACAGACCTGTA	CACAGACCTGTA	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr2:54826305_54826316delCACAGACCTGTA	ENST00000333896.5	+	2	571_582	c.186_197delCACAGACCTGTA	c.(184-198)atc>at	p.ITDLY62del	SPTBN1_ENST00000356805.4_In_Frame_Del_p.ITDLY75del	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	75	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTGCCGGATCACAGACCTGTACACTGACCTT	0.542													11	73	---	---	---	---					
GC	2638	broad.mit.edu	37	4	72649702	72649702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr4:72649702delC	ENST00000273951.8	-	1	377	c.34delG	c.(34-36)cafs	p.A12fs	GC_ENST00000504199.1_Frame_Shift_Del_p.A31fs|GC_ENST00000513476.1_Frame_Shift_Del_p.A12fs	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	12					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TGTCCAAATGCCACAGCAAGC	0.383													10	77	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cct>cGCAct	p.226_226P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													3	5	---	---	---	---					
FCN1	2219	broad.mit.edu	37	9	137801876	137801876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr9:137801876delC	ENST00000371806.3	-	9	840	c.749delG	c.(748-750)gcfs	p.G250fs		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	250	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTTGTTGTGGCCCGTTAGAGA	0.502													8	266	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24835122	24835122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:24835122delG	ENST00000376454.3	+	21	5731	c.5701delG	c.(5701-5703)ccfs	p.A1901fs	KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.A1222fs|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.A1332fs|KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.A1307fs|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1901	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						tccttctcctgcctcctccgt	0.532													8	63	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129906484	129906499	+	Frame_Shift_Del	DEL	CTGCCAGGTAAAGTTC	CTGCCAGGTAAAGTTC	-	rs144673755		TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr10:129906484_129906499delCTGCCAGGTAAAGTTC	ENST00000368654.3	-	13	3980_3995	c.3605_3620delGAACTTTACCTGGCAG	c.(3604-3621)gcfs	p.GTLPGS1202fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.GTLPGS842fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1202	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTCTTTTGCTGCCAGGTAAAGTTCCTGCCAGGTC	0.500													12	228	---	---	---	---					
EDNRB	1910	broad.mit.edu	37	13	78477331	78477332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr13:78477331_78477332insT	ENST00000377211.4	-	4	1182_1183	c.1030_1031insA	c.(1030-1032)ctgfs	p.L344fs	EDNRB_ENST00000446573.1_Frame_Shift_Ins_p.L254fs|EDNRB_ENST00000334286.5_Frame_Shift_Ins_p.L254fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	254					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGCAAGCAGATTCGCAGATAA	0.371													35	133	---	---	---	---					
ABCA8	10351	broad.mit.edu	37	17	66883566	66883566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chr17:66883566delG	ENST00000269080.2	-	23	3243	c.3106delC	c.(3106-3108)tgfs	p.L1036fs	ABCA8_ENST00000430352.2_Frame_Shift_Del_p.L1076fs|ABCA8_ENST00000586539.1_Frame_Shift_Del_p.L1076fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1036						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGAAGTACAGGGAAACATCC	0.413													28	215	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47028738	47028738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7661-01A-11D-2063-08	TCGA-44-7661-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2fbfff-3d7e-462c-9f32-e1f75fa8307f	0e687258-0534-4a9c-8083-57a927a7a604	g.chrX:47028738delC	ENST00000377604.3	+	3	784	c.42delC	c.(40-42)ggfs	p.G14fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.G14fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.G14fs|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	14					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACAGGACTGGCCGCTATGGAG	0.582													16	37	---	---	---	---