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
FUK	197258	broad.mit.edu	37	16	70497537	70497537	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:70497537C>T	ENST00000288078.6	+	3	326	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.R32W|FUK_ENST00000378912.2_Missense_Mutation_p.R32W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	32						cytoplasm	ATP binding|fucokinase activity	p.R32W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACTGGAAGTGCGGCAGAAGCG	0.617000													4	151					0	0	0.014758	0	0
MMP12	4321	broad.mit.edu	37	11	102743653	102743653	+	RNA	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:102743653G>T	ENST00000532855.1	-	0	388							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H98N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTGAAATGATGGACATCGGGG	0.507000													9	27					1.12685e-05	1.31908e-05	0.004482	1	0
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:155874261C>A	ENST00000368323.3	-	5	474	c.270G>T	c.(268-270)atG>atT	p.M90I	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I|RIT1_ENST00000539040.1_Missense_Mutation_p.M54I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433000													21	47					6.44725e-10	8.38564e-10	0.014323	1	0
QRFPR	84109	broad.mit.edu	37	4	122261661	122261661	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:122261661G>T	ENST00000394427.2	-	2	856	c.445C>A	c.(445-447)Cat>Aat	p.H149N	QRFPR_ENST00000334383.5_Missense_Mutation_p.H149N	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	149			H -> Q (in dbSNP:rs11947418).			plasma membrane	neuropeptide Y receptor activity	p.H149N(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTAAAAGGATGCACAAGTCCC	0.468000													11	38					4.36969e-10	5.75873e-10	0.016723	1	0
SAP30BP	29115	broad.mit.edu	37	17	73702103	73702103	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:73702103G>T	ENST00000584667.1	+	10	933	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C	SAP30BP_ENST00000355423.3_Missense_Mutation_p.G210C	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	226	Thr-rich.				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.G226C(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTTGTGACGGGCACCAAAAA	0.577000													7	31					2.0095e-06	2.39455e-06	0.029380	1	0
KCNA1	3736	broad.mit.edu	37	12	5021401	5021401	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:5021401C>T	ENST00000382545.3	+	2	1964	c.857C>T	c.(856-858)aCc>aTc	p.T286I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	286					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.T286I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGCAGGCCACCTCCCTGGCC	0.542000													25	71					0	0	0.024334	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993970	106993970	+	RNA	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:106993970C>A	ENST00000390624.2	-	0	273																											ATGAAACCCACTCCAGCCCCT	0.527000													41	105					2.77807e-22	4.38759e-22	0.013114	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													13	101					0	0	0.020292	0	0
XYLT1	64131	broad.mit.edu	37	16	17211541	17211541	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:17211541G>T	ENST00000261381.6	-	11	2603	c.2519C>A	c.(2518-2520)gCg>gAg	p.A840E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	840					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.A840E(1)|p.A840V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCAGAGGCGCAACGAGGAA	0.542000													13	40					4.3838e-07	5.33951e-07	0.016723	1	0
SKIV2L	6499	broad.mit.edu	37	6	31930285	31930285	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:31930285G>C	ENST00000375394.2	+	11	1247	c.1134G>C	c.(1132-1134)ggG>ggC	p.G378G	SKIV2L_ENST00000544581.1_Silent_p.G185G	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	378	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.G378G(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACATTCGGGGATGTGGGGC	0.562000													10	45					0	0	0.010729	0	0
AKIP1	56672	broad.mit.edu	37	11	8933196	8933196	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:8933196C>G	ENST00000529876.1	+	1	461	c.200C>G	c.(199-201)cCg>cGg	p.P67R	AKIP1_ENST00000525005.1_Missense_Mutation_p.P67R|AKIP1_ENST00000299576.5_Missense_Mutation_p.P67R|AKIP1_ENST00000309357.4_Missense_Mutation_p.P67R|AKIP1_ENST00000309377.4_Missense_Mutation_p.P67R|AKIP1_ENST00000396648.2_Missense_Mutation_p.P67R|AKIP1_ENST00000534147.1_Missense_Mutation_p.P67R|AKIP1_ENST00000534506.1_Missense_Mutation_p.P67R			Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	67						nucleus	protein binding	p.P67R(1)		kidney(1)|large_intestine(2)|lung(2)	5						GCAGCCGGCCCGCAGCGCGTT	0.741000													3	6					0	0	0.009096	0	0
KIF5B	3799	broad.mit.edu	37	10	32307277	32307277	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:32307277G>C	ENST00000302418.4	-	22	2863	c.2406C>G	c.(2404-2406)ctC>ctG	p.L802L	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	802					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.L802L(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CCTGAACAAAGAGTTTGCGCA	0.368000			T	"""RET, ALK"""	NSCLC								10	86					0	0	0.013537	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332776	22332776	+	RNA	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:22332776G>C	ENST00000558896.1	+	0	583																											GCCTATGACAGGTATGTTGCC	0.488000													6	46					0	0	0.029380	0	0
CTNNB1	1499	broad.mit.edu	37	3	41280817	41280817	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:41280817T>C	ENST00000349496.5	+	15	2610	c.2330T>C	c.(2329-2331)tTt>tCt	p.F777S	CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.F770S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.F777S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.F777S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.F777S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	777	Interaction with SCRIB (By similarity).				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.F777S(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGCCTGGTTTGATACTGAC	0.478000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	31					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776174	77776174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:77776174C>A	ENST00000521891.2	+	11	10672	c.10224C>A	c.(10222-10224)tgC>tgA	p.C3408*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C3382*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C3363*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C3359*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C3392W(1)|p.C3392*(1)		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)			GCAGAAAGTGCCAGATGATGT	0.413000										HNSCC(33;0.089)			4	10					0.00909568	0.00962787	0.009096	1	0
KBTBD7	84078	broad.mit.edu	37	13	41766583	41766583	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:41766583A>G	ENST00000379483.3	-	1	2119	c.1811T>C	c.(1810-1812)cTt>cCt	p.L604P		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	604							protein binding	p.L604P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AAACTGCAAAAGGCCTAACAT	0.423000													3	141					0	0	0.004672	0	0
CELF4	56853	broad.mit.edu	37	18	34853003	34853003	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:34853003C>G	ENST00000420428.2	-	7	1320	c.925G>C	c.(925-927)Gcc>Ccc	p.A309P	CELF4_ENST00000588597.1_Missense_Mutation_p.A298P|CELF4_ENST00000591287.1_Missense_Mutation_p.A308P|CELF4_ENST00000361795.5_Missense_Mutation_p.A307P|CELF4_ENST00000334919.5_Missense_Mutation_p.A299P|CELF4_ENST00000601019.1_Missense_Mutation_p.A307P|CELF4_ENST00000603232.1_Missense_Mutation_p.A308P|CELF4_ENST00000591282.1_Missense_Mutation_p.A309P|CELF4_ENST00000412753.1_Missense_Mutation_p.A308P	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	309	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A309P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ATAGGTGCGGCCGCCAGGCCA	0.657000													4	50					0	0	0.009096	0	0
FMN2	56776	broad.mit.edu	37	1	240255621	240255621	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:240255621G>A	ENST00000319653.9	+	1	442	c.212G>A	c.(211-213)aGa>aAa	p.R71K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	71					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	p.R214K(1)		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)			TCCGACTCCAGAGCCTCGGTG	0.667000													3	15					0	0	0.004672	0	0
OR2T6	254879	broad.mit.edu	37	1	248550951	248550951	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:248550951C>T	ENST00000355728.2	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTACCCTCATGGGGCTCT	0.423000													15	124					0	0	0.027356	0	0
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:125047562C>A	ENST00000522917.1	+	19	2537	c.2331C>A	c.(2329-2331)gtC>gtA	p.V777V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	777						integral to membrane		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498000													17	69					3.32936e-07	4.08977e-07	0.006122	1	0
CC2D1B	200014	broad.mit.edu	37	1	52824928	52824928	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:52824928T>A	ENST00000371586.2	-	10	1258	c.1120A>T	c.(1120-1122)Acc>Tcc	p.T374S	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.T374S	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	374								p.T374S(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTACCTGGGGTTGCTGGGACG	0.627000													19	44					0	0	0.006122	0	0
PPFIA4	8497	broad.mit.edu	37	1	203020922	203020922	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:203020922G>C	ENST00000367240.2	+	13	2001	c.1474G>C	c.(1474-1476)Gtg>Ctg	p.V492L	PPFIA4_ENST00000599966.1_Missense_Mutation_p.V7L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.V517L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V7L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.V220L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.V7L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	7	SAM 2.				cell communication	cell surface|cytoplasm	protein binding	p.V7L(1)|p.V664L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCAGCAGACGTGCGGTTCTC	0.637000													6	24					0	0	0.021553	0	0
PDCD11	22984	broad.mit.edu	37	10	105166430	105166430	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:105166430A>G	ENST00000369797.3	+	7	847	c.753A>G	c.(751-753)ggA>ggG	p.G251G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	251	S1 motif 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.G251G(1)		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)		GCAACGGAGGAGTTGTTAGTC	0.483000													23	63					0	0	0.014323	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817138	129817138	+	RNA	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:129817138G>A	ENST00000507643.1	+	0	720							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										AGAACCTGCGGGAGTCGCAGC	0.522000													3	44					0	0	0.014758	0	0
TNP1	7141	broad.mit.edu	37	2	217724644	217724644	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:217724644C>T	ENST00000236979.2	-	1	143	c.114G>A	c.(112-114)ctG>ctA	p.L38L	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	38					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	p.L38L(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTACTTTTCAGGTTGCCCT	0.532000													25	125					0	0	0.027356	0	0
OR14C36	127066	broad.mit.edu	37	1	248512808	248512808	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:248512808G>T	ENST00000317861.1	+	1	732	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L244L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTCACATCCTGGTGGTGTCAG	0.498000													18	80					1.02788e-11	1.41068e-11	0.033300	1	0
BAZ2A	11176	broad.mit.edu	37	12	57003980	57003980	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:57003980A>T	ENST00000179765.5	-	10	1908	c.1709T>A	c.(1708-1710)gTa>gAa	p.V570E	BAZ2A_ENST00000379441.3_Missense_Mutation_p.V572E|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V602E|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V600E			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	602	MBD.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.V602E(2)|p.V638E(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GACACTGTGTACCACGTTGCG	0.488000													34	92					0	0	0.023175	0	0
OR52N2	390077	broad.mit.edu	37	11	5841596	5841596	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:5841596C>A	ENST00000317037.2	+	1	53	c.31C>A	c.(31-33)Cca>Aca	p.P11T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P11T(1)		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)		CAGCCTGACCCCAGGATTCTT	0.512000													28	85					1.7881e-09	2.29569e-09	0.037714	1	0
FAM47C	442444	broad.mit.edu	37	X	37028496	37028496	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:37028496C>T	ENST00000358047.3	+	1	2065	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	671								p.P671P(3)		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						CGGAGCCCCCCGAGACTGGAG	0.647000													7	20					0	0	0.010729	0	0
ALG12	79087	broad.mit.edu	37	22	50302947	50302947	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:50302947G>A	ENST00000330817.5	-	6	986	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	238					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.P238L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTTTCCTTCCGGCCAAGTGAG	0.502000													4	87					0	0	0.009096	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982143	61982143	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:61982143C>T	ENST00000370263.4	-	5	841	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	207					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G207N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACCCACTCGCCACTCTCCCA	0.582000													13	46					0	0	0.024245	0	0
MMP25	64386	broad.mit.edu	37	16	3107615	3107615	+	Splice_Site	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:3107615G>A	ENST00000336577.4	+	7	1243		c.e7+1		RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25						inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TTCTTCAAAGGTGAGTCATTT	0.517000													8	104					0	0	0.004482	0	0
NOS1	4842	broad.mit.edu	37	12	117726019	117726019	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:117726019C>A	ENST00000344089.3	-	6	1728	c.1043G>T	c.(1042-1044)cGg>cTg	p.R348L	NOS1_ENST00000317775.6_Silent_p.T329T|NOS1_ENST00000338101.4_Silent_p.T329T	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	0					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	p.T329T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGTGCATCCCGTTTCCTGGA	0.512000													19	68					1.96292e-10	2.60414e-10	0.010504	1	0
EXOSC10	5394	broad.mit.edu	37	1	11151600	11151600	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:11151600G>A	ENST00000544779.1	-	4	432	c.427C>T	c.(427-429)Cct>Tct	p.P143S	EXOSC10_ENST00000304457.7_Missense_Mutation_p.P143S|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P143S			Q01780	EXOSX_HUMAN	exosome component 10	143					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	p.P143S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGCCGGCAGGGAGGACAGGC	0.463000													10	51					0	0	0.008291	0	0
DANCR	57291	broad.mit.edu	37	4	53579678	53579678	+	RNA	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:53579678C>A	ENST00000411630.2	+	0	252					NR_024031.1																						ACTACAGGCACAAGCCATTGA	0.343000													5	13					0.00198382	0.00215727	0.029380	1	0
SMO	6608	broad.mit.edu	37	7	128846405	128846405	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:128846405T>C	ENST00000249373.3	+	6	1521	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	414					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V414A(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTGCTCATCGTGGGAGGCTAC	0.572000			Mis		skin basal cell								47	179					0	0	0.014410	0	0
OR14A16	284532	broad.mit.edu	37	1	247978952	247978952	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247978952A>G	ENST00000357627.1	-	1	79	c.80T>C	c.(79-81)aTt>aCt	p.I27T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I27T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAAGAAGAGAATCGAATGCAA	0.393000													13	48					0	0	0.020292	0	0
PDZD2	23037	broad.mit.edu	37	5	32074612	32074612	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:32074612G>A	ENST00000438447.1	+	18	3788	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1134K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1134					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E1134K(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATCCGAGGCTGAGGCCAAGCC	0.602000													7	41					0	0	0.029380	0	0
PRKD1	5587	broad.mit.edu	37	14	30066795	30066795	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:30066795C>T	ENST00000331968.5	-	16	2565	c.2336G>A	c.(2335-2337)gGc>gAc	p.G779D	PRKD1_ENST00000415220.2_Missense_Mutation_p.G787D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	779	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G779D(4)|p.G779A(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGGAATGTGCCGCTTAGGCT	0.463000													4	107					0	0	0.009096	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	72					0	0	0.004672	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156542	55156542	+	Silent	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:55156542T>A	ENST00000257290.5	+	22	3274	c.2943T>A	c.(2941-2943)cgT>cgA	p.R981R	FIP1L1_ENST00000507166.1_Silent_p.R741R	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	981					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R981R(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CACGCATGCGTGTGGACTCAG	0.448000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	76					0	0	0.018920	0	0
ZNF195	7748	broad.mit.edu	37	11	3380496	3380496	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:3380496T>C	ENST00000354599.6	-	4	1630	c.1526A>G	c.(1525-1527)gAc>gGc	p.D509G	ZNF195_ENST00000399602.4_Missense_Mutation_p.D581G|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.D513G|ZNF195_ENST00000526601.1_Missense_Mutation_p.D562G|ZNF195_ENST00000429541.2_Missense_Mutation_p.D513G|ZNF195_ENST00000005082.9_Missense_Mutation_p.D558G	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D509G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCCACATTCGTCACATTTGTA	0.403000													3	112					0	0	0.004672	0	0
MS4A15	219995	broad.mit.edu	37	11	60531432	60531432	+	Splice_Site	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:60531432G>T	ENST00000405633.3	+	2	304		c.e2+1		MS4A15_ENST00000528170.1_Splice_Site|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15							integral to membrane	receptor activity	p.?(1)		breast(1)|large_intestine(2)|lung(3)	6						AGTTTTGGGGGTAAGAACAGC	0.557000													6	12					0.00116845	0.00128464	0.021553	1	0
PLXNA4	91584	broad.mit.edu	37	7	131887475	131887475	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:131887475G>T	ENST00000359827.3	-	12	3478	c.2516C>A	c.(2515-2517)cCt>cAt	p.P839H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P839H			Q9HCM2	PLXA4_HUMAN	plexin A4	839	PSI 3.					integral to membrane|intracellular|plasma membrane		p.P839H(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTGGGCAGGGCAGTGCTG	0.657000													9	33					0.000442599	0.000494816	0.006214	1	0
GRIK2	2898	broad.mit.edu	37	6	102250223	102250223	+	Silent	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:102250223C>G	ENST00000369138.1	+	8	1603	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L	GRIK2_ENST00000369134.4_Silent_p.L322L|GRIK2_ENST00000421544.1_Silent_p.L371L|GRIK2_ENST00000318991.6_Silent_p.L371L|GRIK2_ENST00000369137.3_Silent_p.L371L|GRIK2_ENST00000413795.1_Silent_p.L371L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	371					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L371L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGGAAGGCCTCACAGGCAGAA	0.338000													5	9					0	0	0.021553	0	0
CLCN1	1180	broad.mit.edu	37	7	143029825	143029825	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:143029825C>A	ENST00000343257.2	+	12	1347	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P420P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGTTGATGCCCCGCGAAGCCA	0.522000													56	206					4.83215e-14	6.91797e-14	0.014410	1	0
ZNF285	26974	broad.mit.edu	37	19	44896581	44896581	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:44896581A>T	ENST00000330997.4	-	3	129	c.65T>A	c.(64-66)cTg>cAg	p.L22Q	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.L29Q|ZNF285_ENST00000544719.2_Missense_Mutation_p.L22Q	NM_152354.3	NP_689567.3			zinc finger protein 285									p.L22Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CAATAGTGCCAGCTCTTCCTT	0.448000													35	108					0	0	0.015359	0	0
ZAN	7455	broad.mit.edu	37	7	100349509	100349509	+	RNA	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:100349509C>A	ENST00000542585.1	+	0	1929				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P594H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTCCCACAGAAAAA	0.468000													14	51					7.93312e-07	9.56782e-07	0.020292	1	0
SRSF1	6426	broad.mit.edu	37	17	56083844	56083844	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:56083844T>C	ENST00000582730.2	-	2	362	c.239A>G	c.(238-240)gAt>gGt	p.D80G	SRSF1_ENST00000584773.1_Missense_Mutation_p.D80G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Missense_Mutation_p.D80G	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	80	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	p.D80G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGTACCCATCGTAATCATA	0.637000													4	31					0	0	0.014758	0	0
KEL	3792	broad.mit.edu	37	7	142641808	142641808	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:142641808C>A	ENST00000355265.2	-	12	1809	c.1335G>T	c.(1333-1335)gcG>gcT	p.A445A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	445					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A445A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATCCCGGATCGCAGTGAATA	0.602000													13	38					6.31663e-08	7.80751e-08	0.024245	1	0
GPRIN1	114787	broad.mit.edu	37	5	176023823	176023823	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:176023823G>T	ENST00000303991.4	-	2	3190	c.3013C>A	c.(3013-3015)Ccc>Acc	p.P1005T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	1005	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane		p.P1005T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGCCGTGGGTCCCGCCCGC	0.706000													4	17					0.00024832	0.000280771	0.009096	1	0
SHROOM3	57619	broad.mit.edu	37	4	77675651	77675651	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:77675651A>T	ENST00000296043.6	+	7	4968	c.4015A>T	c.(4015-4017)Acg>Tcg	p.T1339S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1339					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.T1338S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACTGGCAGGAACGCAAGGGCT	0.607000													17	79					0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763345	77763345	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:77763345G>A	ENST00000521891.2	+	10	4636	c.4188G>A	c.(4186-4188)aaG>aaA	p.K1396K	ZFHX4_ENST00000518282.1_Silent_p.K1370K|ZFHX4_ENST00000455469.2_Silent_p.K1351K|ZFHX4_ENST00000050961.6_Silent_p.K1351K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K1396K(1)		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)			ATGTCTACAAGTATCGCTGTA	0.428000										HNSCC(33;0.089)			10	44					0	0	0.006214	0	0
NMT1	4836	broad.mit.edu	37	17	43175845	43175845	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:43175845G>T	ENST00000592782.1	+	8	940	c.809G>T	c.(808-810)cGg>cTg	p.R270L	NMT1_ENST00000258960.2_Missense_Mutation_p.R270L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	270					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	p.R270L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ATCACCAGGCGGGTTCACCTG	0.532000													32	118					5.8336e-16	8.7946e-16	0.015359	1	0
NRROS	375387	broad.mit.edu	37	3	196386667	196386667	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:196386667G>T	ENST00000328557.4	+	3	356	c.153G>T	c.(151-153)gtG>gtT	p.V51V		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species									p.V51V(1)									TCGCTTCGGTGCCCAGCAGCC	0.652000													7	24					2.0095e-06	2.39455e-06	0.029380	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755360	140755360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:140755360C>A	ENST00000517434.1	+	1	1710	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.D570E(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667000													39	148					8.69298e-16	1.29097e-15	0.027894	1	0
PTGFR	5737	broad.mit.edu	37	1	78959135	78959135	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:78959135A>T	ENST00000370756.3	+	2	944	c.707A>T	c.(706-708)cAg>cTg	p.Q236L	PTGFR_ENST00000370758.1_Missense_Mutation_p.Q236L|PTGFR_ENST00000370757.3_Missense_Mutation_p.Q236L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	236					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.Q236L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AAAAGTCAGCAGCACAGACAA	0.413000													21	64					0	0	0.024334	0	0
TNS1	7145	broad.mit.edu	37	2	218669198	218669198	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:218669198G>A	ENST00000171887.4	-	33	5644	c.5192C>T	c.(5191-5193)gCc>gTc	p.A1731V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1731						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.A1731V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTTTGGCCGGCATTCAGCAT	0.612000													4	124					0	0	0.014758	0	0
SERINC4	619189	broad.mit.edu	37	15	44087738	44087738	+	Splice_Site	SNP	C	C	T	rs74494149		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:44087738C>T	ENST00000319327.6	-	11	1425	c.1189_splice	c.e11-1	p.G397_splice	SERINC4_ENST00000249714.3_Splice_Site_p.G153_splice|SERINC4_ENST00000299969.6_Splice_Site_p.G323_splice|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000409291.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	397					phospholipid biosynthetic process	integral to membrane		p.G153G(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CACCCCTTTGCCCTGGAGAGA	0.557000													4	93					0	0	0.009096	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802719	185802719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:185802719G>T	ENST00000302277.6	+	4	3190	c.2596G>T	c.(2596-2598)Gaa>Taa	p.E866*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866						intracellular	zinc ion binding	p.E866*(1)		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						TGCAAAAATCGAAAGGAACTC	0.353000													22	64					2.89027e-11	3.91268e-11	0.014323	1	0
KIF21B	23046	broad.mit.edu	37	1	200969648	200969648	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:200969648C>A	ENST00000332129.2	-	11	1871	c.1555G>T	c.(1555-1557)Gct>Tct	p.A519S	KIF21B_ENST00000461742.2_Missense_Mutation_p.A519S|KIF21B_ENST00000422435.2_Missense_Mutation_p.A519S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A519S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	519					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A519S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGGAGAAGCACCCAGGGAG	0.657000													21	88					9.95505e-16	1.46745e-15	0.014323	1	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964831	31964831	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:31964831G>T	ENST00000391624.1	+	1	73	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.G16W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCATGGCTATGggtgctgtgg	0.567000													10	47					0.0167234	0.0175155	0.016723	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735567	55735567	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:55735567G>C	ENST00000312345.2	-	1	423	c.373C>G	c.(373-375)Cta>Gta	p.L125V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L125V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCATCACTAGAGGATACTGC	0.438000													7	30					0	0	0.029380	0	0
AADACL4	343066	broad.mit.edu	37	1	12711299	12711299	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:12711299C>T	ENST00000376221.1	+	2	326	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	109						integral to membrane	carboxylesterase activity	p.S109F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCAGCATCCTCCAGACCCCGG	0.562000													21	52					0	0	0.014323	0	0
AKAP13	11214	broad.mit.edu	37	15	86266516	86266516	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:86266516G>A	ENST00000394518.2	+	26	6805	c.6710G>A	c.(6709-6711)aGt>aAt	p.S2237N	AKAP13_ENST00000394510.2_Missense_Mutation_p.S482N|AKAP13_ENST00000361243.2_Missense_Mutation_p.S2241N|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2237	Interaction with ESR1.|PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S2241N(1)|p.S317N(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTGATGGGAGTGTGTTTCTG	0.413000													5	67					0	0	0.014758	0	0
KMT2C	58508	broad.mit.edu	37	7	151962175	151962175	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:151962175A>C	ENST00000355193.2	-	8	1350	c.1132T>G	c.(1132-1134)Tta>Gta	p.L378V	KMT2C_ENST00000262189.6_Missense_Mutation_p.L378V					lysine (K)-specific methyltransferase 2C									p.L378V(2)									GCACGTTTTAATGGAGTAACC	0.453000													8	311					0	0	0.028581	0	0
CEP170	9859	broad.mit.edu	37	1	243354382	243354382	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:243354382C>A	ENST00000366542.1	-	8	1097	c.1046G>T	c.(1045-1047)aGa>aTa	p.R349I	CEP170_ENST00000366544.1_Missense_Mutation_p.R349I|CEP170_ENST00000366543.1_Missense_Mutation_p.R349I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	349						centriole|microtubule|spindle		p.R349I(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTCTTCTGTTCTTTCCCATAG	0.403000													3	12					0.014758	0.0155388	0.014758	1	0
PARP10	84875	broad.mit.edu	37	8	145058247	145058247	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:145058247A>G	ENST00000313028.7	-	7	1800	c.1706T>C	c.(1705-1707)gTg>gCg	p.V569A	PARP10_ENST00000524918.1_Missense_Mutation_p.V569A|PARP10_ENST00000525773.1_Missense_Mutation_p.V581A	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	569						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.V569A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGGAGCACTGGGAGGGC	0.652000													11	38					0	0	0.010729	0	0
PDGFD	80310	broad.mit.edu	37	11	103780477	103780477	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:103780477T>C	ENST00000302251.5	-	7	1491	c.1040A>G	c.(1039-1041)cAg>cGg	p.Q347R	PDGFD_ENST00000393158.2_Missense_Mutation_p.Q353R	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	353					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	p.Q353R(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTGATCCAACTGGATGTCAAC	0.448000													28	130					0	0	0.030593	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982144	61982144	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:61982144C>T	ENST00000370263.4	-	5	840	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	207					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G207N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ACCCACTCGCCACTCTCCCAG	0.582000													13	47					0	0	0.024245	0	0
MXRA5	25878	broad.mit.edu	37	X	3240769	3240769	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:3240769G>C	ENST00000217939.6	-	5	3111	c.2957C>G	c.(2956-2958)tCa>tGa	p.S986*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	986						extracellular region		p.S986*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTGGTTGTGACTTAGTCTC	0.478000													4	61					0	0	0.009096	0	0
GALR1	2587	broad.mit.edu	37	18	74980579	74980579	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:74980579A>G	ENST00000299727.3	+	3	771	c.771A>G	c.(769-771)ggA>ggG	p.G257G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	257					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.G257G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGTGTTTGGAATCTCCTGGC	0.557000													26	170					0	0	0.012213	0	0
TMEM202	338949	broad.mit.edu	37	15	72698971	72698971	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:72698971T>C	ENST00000567679.1	+	2	128	c.110T>C	c.(109-111)tTc>tCc	p.F37S	TMEM202_ENST00000341689.3_Silent_p.F122F			A6NGA9	TM202_HUMAN	transmembrane protein 202	35						integral to membrane		p.F122F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGGCCTTCTTTCTCATCTCTG	0.463000													28	85					0	0	0.015359	0	0
TMC5	79838	broad.mit.edu	37	16	19451966	19451966	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:19451966G>T	ENST00000396229.2	+	3	1355	c.606G>T	c.(604-606)ctG>ctT	p.L202L	TMC5_ENST00000381414.4_Silent_p.L202L|TMC5_ENST00000542583.2_Silent_p.L202L|TMC5_ENST00000541464.1_Silent_p.L202L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	202						integral to membrane		p.G203*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGACTCTCTGGGAAAGCCTG	0.468000													33	87					1.26612e-14	1.8391e-14	0.015359	1	0
GLRX	2745	broad.mit.edu	37	5	95152247	95152247	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:95152247C>A	ENST00000379979.4	-	2	342	c.291G>T	c.(289-291)acG>acT	p.T97T	GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000505427.1_Silent_p.T97T|GLRX_ENST00000237858.6_Silent_p.T97T|GLRX_ENST00000512469.2_Silent_p.T97T|GLRX_ENST00000508780.1_Silent_p.T97T	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	97	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	p.T97T(1)		endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GCTTTAGCCGCGTCAGCAGTT	0.512000													21	46					2.89027e-11	3.91268e-11	0.014323	1	0
ZFP28	140612	broad.mit.edu	37	19	57066566	57066566	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:57066566G>A	ENST00000301318.3	+	8	2483	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K804K(1)		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)		ATCAACATAAGAGAGTTCATA	0.378000													4	140					0	0	0.009096	0	0
CHML	1122	broad.mit.edu	37	1	241797243	241797243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:241797243G>A	ENST00000366553.1	-	1	1989	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	609					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P609L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATTTGGAGGTGGAGGGCAGAA	0.473000													23	83					0	0	0.014323	0	0
CTPS1	1503	broad.mit.edu	37	1	41456895	41456895	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:41456895G>A	ENST00000372621.4	+	6	1122	c.614G>A	c.(613-615)aGa>aAa	p.R205K	CTPS1_ENST00000543104.1_Missense_Mutation_p.R212K|CTPS1_ENST00000541520.1_5'UTR|CTPS1_ENST00000372616.1_Missense_Mutation_p.R205K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	205					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.R205K(2)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CGGGAACTTAGAGGACTTGGG	0.388000													14	51					0	0	0.028581	0	0
KDR	3791	broad.mit.edu	37	4	55968660	55968660	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:55968660G>T	ENST00000263923.4	-	14	2298	c.2003C>A	c.(2002-2004)aCg>aAg	p.T668K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	668	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.T668M(1)|p.T668K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTGTGATCGTGGGTGCCAC	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	56					1.56452e-12	2.1772e-12	0.007413	1	0
TAF1L	138474	broad.mit.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	rs147409173		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr9:32633525G>A	ENST00000242310.4	-	1	2142	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448000													4	159					0	0	0.009096	0	0
NUP50	10762	broad.mit.edu	37	22	45574368	45574368	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:45574368T>C	ENST00000347635.3	+	5	1056	c.590T>C	c.(589-591)aTt>aCt	p.I197T	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.I169T|NUP50_ENST00000396096.2_Missense_Mutation_p.I169T	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	197	5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity).				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	p.I197T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTAGCAAACATTGAACAGCAA	0.423000													4	108					0	0	0.009096	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985809	11985809	+	RNA	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:11985809C>T	ENST00000434078.2	+	0	608					NR_027425.1																						AAGTAATGTCCGTTGTGACAA	0.483000													6	21					0	0	0.021553	0	0
MYO7B	4648	broad.mit.edu	37	2	128347795	128347795	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:128347795G>A	ENST00000389524.4	+	16	2036	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	MYO7B_ENST00000409816.2_Silent_p.K661K|MYO7B_ENST00000428314.1_Silent_p.K661K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	661	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.K661K(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATGAGTACAAGAAGCCGCTGG	0.552000													9	33					0	0	0.010729	0	0
BRINP2	57795	broad.mit.edu	37	1	177249934	177249934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:177249934G>A	ENST00000361539.4	+	8	1934	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		541						extracellular region		p.W541*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGGGCAGCTGGTTTGACCCT	0.552000													4	30					0	0	0.009096	0	0
CDH24	64403	broad.mit.edu	37	14	23517504	23517504	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:23517504G>C	ENST00000397359.3	-	13	2404	c.2145C>G	c.(2143-2145)ggC>ggG	p.G715G	CDH24_ENST00000487137.2_Silent_p.G677G|CDH24_ENST00000267383.5_Silent_p.G715G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.G677G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	715					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	p.G677G(1)|p.G715G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		gcgcgggagggccgggcgccg	0.781000													8	38					0	0	0.003080	0	0
DSC2	1824	broad.mit.edu	37	18	28650692	28650692	+	Splice_Site	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:28650692C>A	ENST00000280904.6	-	14	2693	c.2250_splice	c.e14+1	p.V750_splice	DSC2_ENST00000251081.6_Splice_Site_p.V750_splice	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	750					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.V750V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GACTACTTACCACTTTGTCAT	0.368000													16	48					5.01169e-05	5.73177e-05	0.033300	1	0
DHRS2	10202	broad.mit.edu	37	14	24114489	24114489	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:24114489T>A	ENST00000344777.7	+	9	1319	c.881T>A	c.(880-882)gTg>gAg	p.V294E	DHRS2_ENST00000250383.6_3'UTR	NM_182908.4	NP_878912.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	p.V294E(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGCGTAGCTGTGGTCCCAGGC	0.597000													31	87					0	0	0.009535	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472159	25472159	+	RNA	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:25472159G>C	ENST00000453082.2	+	0	1201					NR_003343.1																						TGAAGCTCAGGACCTTCCTAG	0.632000													26	47					0	0	0.024334	0	0
KEAP1	9817	broad.mit.edu	37	19	10600006	10600006	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:10600006C>A	ENST00000171111.5	-	5	2117	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	KEAP1_ENST00000393623.2_Missense_Mutation_p.G524C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G524C(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCATCATAGCCCCCAGCAGCA	0.582000													11	24					0.000978159	0.00108745	0.010729	1	0
BAGE2	85319	broad.mit.edu	37	21	11049502	11049502	+	RNA	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:11049502A>C	ENST00000470054.1	-	0	606									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCACGTTTTAATGGAGTAACC	0.458000													8	137					0	0	0.003080	0	0
ERBB2	2064	broad.mit.edu	37	17	37876038	37876038	+	Splice_Site	SNP	A	A	T	rs112734930		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:37876038A>T	ENST00000406381.2	+	18	2318		c.e18-1		ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000445658.2_Splice_Site	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.?(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTCTCCTGCAGCTGTGTGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			36	98					0	0	0.025465	0	0
ARGFX	503582	broad.mit.edu	37	3	121305205	121305205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:121305205C>A	ENST00000334384.3	+	4	716	c.706C>A	c.(706-708)Ctt>Att	p.L236I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	236						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L236I(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ACTGTACAATCTTCCTGATGA	0.463000													28	102					4.7796e-09	5.98202e-09	0.024334	1	0
PAPPA2	60676	broad.mit.edu	37	1	176811543	176811543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:176811543C>A	ENST00000367662.3	+	23	6493	c.5329C>A	c.(5329-5331)Ctg>Atg	p.L1777M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1777					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1777M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACTGTGACCTGGATGAGTG	0.488000													17	32					5.26018e-13	7.42394e-13	0.012319	1	0
BRD9	65980	broad.mit.edu	37	5	865601	865601	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:865601G>A	ENST00000323510.4	-	12	1332	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	BRD9_ENST00000483173.1_Missense_Mutation_p.R488C|BRD9_ENST00000388890.4_Missense_Mutation_p.R425C|BRD9_ENST00000467963.1_Missense_Mutation_p.R541C			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	541							nucleic acid binding	p.E444_R445>DC(1)|p.E540_R541>DC(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAGCCGCCGCGCTCCGCCTGT	0.647000													29	119					0	0	0.037714	0	0
KDM4D	55693	broad.mit.edu	37	11	94731100	94731100	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:94731100G>C	ENST00000335080.5	+	3	1396	c.564G>C	c.(562-564)acG>acC	p.T188T	KDM4D_ENST00000536741.1_Silent_p.T188T	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	188	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T188T(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGAAAACCACGTTTGCTTGGC	0.512000													28	97					0	0	0.030593	0	0
ECT2L	345930	broad.mit.edu	37	6	139135693	139135693	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:139135693A>G	ENST00000423192.1	+	3	293	c.132A>G	c.(130-132)caA>caG	p.Q44Q	ECT2L_ENST00000541398.1_5'UTR|ECT2L_ENST00000367682.2_Silent_p.Q44Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	44					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Q44Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AGCAACGTCAAGAATTCTTAT	0.358000			"""N, Splice, Mis"""		ETP ALL								5	45					0	0	0.021553	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886910	9886910	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:9886910A>T	ENST00000306084.6	+	2	633	c.434A>T	c.(433-435)aAa>aTa	p.K145I	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K78I|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K78I|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	145	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K78I(1)|p.K145I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATCCAGCCCAAAGAGAGTAAC	0.562000													39	99					0	0	0.021022	0	0
OR8H1	219469	broad.mit.edu	37	11	56057967	56057967	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:56057967G>T	ENST00000313022.2	-	1	599	c.572C>A	c.(571-573)aCa>aAa	p.T191K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T191K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AATGTCGTATGTGTCCATGCA	0.433000													29	69					1.7881e-09	2.29569e-09	0.037714	1	0
KLHL11	55175	broad.mit.edu	37	17	40010662	40010662	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:40010662G>A	ENST00000319121.3	-	2	1517	c.1457C>T	c.(1456-1458)tCg>tTg	p.S486L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	486						extracellular region		p.S486L(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTTGGTGCCGATTCCAAGTT	0.458000													37	119					0	0	0.017118	0	0
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:79689917C>A	ENST00000261205.4	+	7	1200	c.543C>A	c.(541-543)taC>taA	p.Y181*	SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	181	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.Y181*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGATCCTTACGTGAAAGTGT	0.433000													11	49					5.50884e-06	6.48674e-06	0.013537	1	0
GALR1	2587	broad.mit.edu	37	18	74980858	74980858	+	Nonstop_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:74980858A>C	ENST00000299727.3	+	3	1050	c.1050A>C	c.(1048-1050)tgA>tgC	p.*350C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	0					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.*350C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCATGTGTGATAAAAGATAG	0.383000													8	114					0	0	0.004482	0	0
ITGAX	3687	broad.mit.edu	37	16	31382711	31382711	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:31382711C>G	ENST00000268296.4	+	16	2019	c.1898C>G	c.(1897-1899)cCc>cGc	p.P633R	ITGAX_ENST00000562522.1_Missense_Mutation_p.P633R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	633					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.P633R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCGAGATCCCCAGGTCTGCG	0.587000													10	40					0	0	0.008291	0	0
PIGB	9488	broad.mit.edu	37	15	55611455	55611455	+	Silent	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:55611455A>C	ENST00000164305.5	+	1	298	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	PIGB_ENST00000539642.1_5'UTR|PIGB_ENST00000569909.1_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	3					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	p.R3R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		AGGGATGAGGAGGCCCCTAAG	0.597000													4	18					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:7578235T>C	ENST00000420246.2	-	6	746	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542000		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)			4	53					0	0	0.009096	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639438	146639438	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:146639438C>T	ENST00000254101.3	-	3	369	c.231G>A	c.(229-231)cgG>cgA	p.R77R	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	77					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		p.R77R(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TAACAGTGGGCCGGGCCTGCT	0.522000													63	333					0	0	0.014410	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020938	33020938	+	RNA	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:33020938G>T	ENST00000565407.2	+	0	346				RP11-19N8.2_ENST00000567619.1_RNA														p.V116L(1)									GTATTACTGTGTGAAACACAC	0.577000													53	181					2.47907e-22	3.94667e-22	0.014410	1	0
GZMH	2999	broad.mit.edu	37	14	25075882	25075882	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:25075882C>T	ENST00000216338.4	-	5	712	c.668G>A	c.(667-669)gGg>gAg	p.G223E	GZMH_ENST00000557220.2_Missense_Mutation_p.G92E|GZMH_ENST00000382548.4_Missense_Mutation_p.G137E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	223	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.G223E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TGGAGGTGTCCCTTTTTTGTT	0.517000													32	112					0	0	0.009535	0	0
PCDH8	5100	broad.mit.edu	37	13	53418865	53418865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:53418865G>T	ENST00000377942.3	-	3	3246	c.3043C>A	c.(3043-3045)Cag>Aag	p.Q1015K	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q918K	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1015					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.Q1015K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TAGACGCTCTGCAGCCCCACT	0.582000													21	106					1.96292e-10	2.60414e-10	0.010504	1	0
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:34006261C>T	ENST00000373381.4	-	60	9671	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3139	Sushi 25.					integral to membrane|plasma membrane	protein binding	p.G3021G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCACCTTCCCATTGGGGA	0.602000													27	88					0	0	0.027356	0	0
OSBP	5007	broad.mit.edu	37	11	59376080	59376080	+	Silent	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:59376080T>A	ENST00000263847.1	-	3	1178	c.699A>T	c.(697-699)acA>acT	p.T233T		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	233					lipid transport	Golgi membrane	oxysterol binding	p.T233T(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTGCAGAGCTGTGCCATGCT	0.498000													22	77					0	0	0.010504	0	0
TNKS2	80351	broad.mit.edu	37	10	93621874	93621874	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:93621874C>G	ENST00000371627.4	+	26	3779	c.3400C>G	c.(3400-3402)Cta>Gta	p.L1134V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1134	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.L1134V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGTAAATGGCCTAGCATTAGC	0.398000													6	48					0	0	0.029380	0	0
CD22	933	broad.mit.edu	37	19	35829190	35829190	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:35829190A>C	ENST00000085219.5	+	6	1171	c.1105A>C	c.(1105-1107)Aat>Cat	p.N369H	CD22_ENST00000419549.2_Missense_Mutation_p.N197H|CD22_ENST00000270311.6_Missense_Mutation_p.N249H|CD22_ENST00000536635.2_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.N369H|CD22_ENST00000594250.1_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	369	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding	p.N369H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTGGTACCACAATGGGAAAGA	0.502000													25	79					0	0	0.027356	0	0
PRKX	5613	broad.mit.edu	37	X	3573373	3573373	+	Missense_Mutation	SNP	C	C	A	rs145956134		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:3573373C>A	ENST00000262848.5	-	3	770	c.416G>T	c.(415-417)cGc>cTc	p.R139L	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	139	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity	p.R139L(1)		kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CCCCCGGTTGCGCAGGTAGCT	0.602000													25	17					2.61193e-14	3.76648e-14	0.009535	1	0
PADI4	23569	broad.mit.edu	37	1	17668890	17668890	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:17668890G>A	ENST00000375448.4	+	8	954	c.928G>A	c.(928-930)Gcg>Acg	p.A310T	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	310					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.A310T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGAGGTGTACGCGTGCAGGTG	0.627000													8	21					0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92531077	92531077	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:92531077C>A	ENST00000298047.6	+	9	4915	c.4898C>A	c.(4897-4899)aCg>aAg	p.T1633K	FAT3_ENST00000409404.2_Missense_Mutation_p.T1633K|FAT3_ENST00000525166.1_Missense_Mutation_p.T1483K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1633	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T1633K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACATGACGACGATGGGTCAG	0.458000										TCGA Ovarian(4;0.039)			20	69					1.15919e-05	1.34899e-05	0.008871	1	0
FAM46A	55603	broad.mit.edu	37	6	82461603	82461603	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:82461603C>G	ENST00000369754.3	-	2	625	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	FAM46A_ENST00000369756.3_Missense_Mutation_p.G167R|FAM46A_ENST00000320172.6_Missense_Mutation_p.G86R			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	86								p.G86R(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TTGCCGCGCCCGTGAATCGGA	0.652000													6	70					0	0	0.003080	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454982	84454982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:84454982G>C	ENST00000377084.2	-	1	1546	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	221	LRRCT 1.					integral to membrane		p.L221V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTCAGGGAGAGCAGATCACAG	0.542000													11	55					0	0	0.010729	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	53					0	0	0.014758	0	0
RP1L1	94137	broad.mit.edu	37	8	10465434	10465434	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:10465434C>T	ENST00000382483.3	-	4	6397	c.6174G>A	c.(6172-6174)ccG>ccA	p.P2058P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2058					intracellular signal transduction			p.P2058P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCGGGGCCTCTA	0.617000													59	183					0	0	0.014410	0	0
TRPC1	7220	broad.mit.edu	37	3	142496497	142496497	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:142496497G>A	ENST00000273482.6	+	4	945	c.554G>A	c.(553-555)tGt>tAt	p.C185Y	TRPC1_ENST00000476941.1_Missense_Mutation_p.C219Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	219					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.C185Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATATATCGATGTTTGGCCAGT	0.313000													16	48					0	0	0.006122	0	0
CTSZ	1522	broad.mit.edu	37	20	57576645	57576645	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:57576645T>A	ENST00000217131.5	-	3	480	c.362A>T	c.(361-363)cAg>cTg	p.Q121L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	121					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	p.Q121L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GATGACGTTCTGCACGGACAG	0.612000													20	47					0	0	0.008871	0	0
LSS	4047	broad.mit.edu	37	21	47642573	47642573	+	Silent	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:47642573T>A	ENST00000397728.3	-	4	477	c.399A>T	c.(397-399)tcA>tcT	p.S133S	LSS_ENST00000522411.1_Intron|LSS_ENST00000356396.4_Silent_p.S133S|LSS_ENST00000457828.2_Silent_p.S53S|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	133					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.V134L(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGAGCTGCACTGACCGCAGGT	0.587000													3	38					0	0	0.004672	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871865	51871865	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:51871865C>A	ENST00000371497.5	+	2	2755	c.1868C>A	c.(1867-1869)gCc>gAc	p.A623D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A620D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A620D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	623					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A623D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACGAAGAGGCCTCATCTTTC	0.522000													24	110					4.4004e-07	5.33951e-07	0.018920	1	0
FBXO22	26263	broad.mit.edu	37	15	76222283	76222283	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:76222283G>T	ENST00000308275.3	+	6	792	c.687G>T	c.(685-687)aaG>aaT	p.K229N	FBXO22_ENST00000540507.1_Missense_Mutation_p.K125N|FBXO22_ENST00000453211.2_Missense_Mutation_p.K229N	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	229					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.K229N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATTGCTGTAAGGTGGGAGCCA	0.428000													24	103					5.45024e-15	7.97498e-15	0.018920	1	0
PARD3	56288	broad.mit.edu	37	10	34400444	34400444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:34400444G>A	ENST00000374789.3	-	25	4049	c.3724C>T	c.(3724-3726)Cag>Tag	p.Q1242*	PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q1152*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q1205*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q1196*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q1130*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q1239*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q1226*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q1182*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1242					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.Q1242*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGTAGTTCTGCTCCCAAGAG	0.557000													21	60					0	0	0.018920	0	0
CUL7	9820	broad.mit.edu	37	6	43017790	43017790	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:43017790A>G	ENST00000535468.1	-	6	1818	c.1732T>C	c.(1732-1734)Tgg>Cgg	p.W578R	CUL7_ENST00000265348.3_Missense_Mutation_p.W494R	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	494					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.W494R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTCCCACCACTCAGCCAGG	0.562000													34	91					0	0	0.017118	0	0
NMT1	4836	broad.mit.edu	37	17	43175846	43175846	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:43175846G>T	ENST00000592782.1	+	8	941	c.810G>T	c.(808-810)cgG>cgT	p.R270R	NMT1_ENST00000258960.2_Silent_p.R270R			P30419	NMT1_HUMAN	N-myristoyltransferase 1	270					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	p.R270L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCACCAGGCGGGTTCACCTGG	0.532000													32	113					5.8336e-16	8.7946e-16	0.015359	1	0
PPARG	5468	broad.mit.edu	37	3	12458450	12458450	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:12458450C>A	ENST00000397026.2	+	8	1384	c.1001C>A	c.(1000-1002)aCa>aAa	p.T334K	PPARG_ENST00000397010.2_Missense_Mutation_p.T328K|PPARG_ENST00000309576.6_Missense_Mutation_p.T328K|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.T328K|PPARG_ENST00000397015.2_Missense_Mutation_p.T328K|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.T356K			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	356	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.T356K(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATCATTTACACAATGCTGGCC	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						9	45					0.00621372	0.00664801	0.006214	1	0
IRF7	3665	broad.mit.edu	37	11	614252	614252	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:614252A>G	ENST00000397566.1	-	4	1049	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	IRF7_ENST00000397574.2_Missense_Mutation_p.W201R|IRF7_ENST00000348655.6_Missense_Mutation_p.W201R|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000397570.1_Missense_Mutation_p.W201R|IRF7_ENST00000330243.5_Missense_Mutation_p.W214R|IRF7_ENST00000525445.1_Missense_Mutation_p.W95R	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	201					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W214R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGCCCCCCATGACGCTGTC	0.677000													11	18					0	0	0.008291	0	0
HMGB4	127540	broad.mit.edu	37	1	34330081	34330081	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:34330081C>T	ENST00000522796.1	+	4	2194	c.289C>T	c.(289-291)Cca>Tca	p.P97S	HMGB4_ENST00000519684.1_Missense_Mutation_p.P97S|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	97						nucleus	DNA binding	p.P97S(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGACGGCCTCCATCATCCTT	0.542000													26	131					0	0	0.024334	0	0
OR2C3	81472	broad.mit.edu	37	1	247695442	247695442	+	Silent	SNP	G	G	A	rs148160393	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247695442G>A	ENST00000366487.3	-	2	733	c.372C>T	c.(370-372)taC>taT	p.Y124Y	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y123Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGATGGCAGCGTAGCGGTCAT	0.562000													4	32					0	0	0.009096	0	0
SLC30A6	55676	broad.mit.edu	37	2	32422894	32422894	+	Splice_Site	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:32422894A>G	ENST00000282587.5	+	10	701	c.665_splice	c.e10+1	p.N222_splice	SLC30A6_ENST00000538303.1_Splice_Site_p.N193_splice|SLC30A6_ENST00000435660.1_Splice_Site_p.N222_splice|SLC30A6_ENST00000406369.1_Splice_Site_p.N148_splice|SLC30A6_ENST00000379343.2_Splice_Site_p.N262_splice|SLC30A6_ENST00000357055.3_Splice_Site_p.N25_splice	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	222						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	p.N222D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATTGAAATTAAGTGAGTATT	0.373000													17	55					0	0	0.006122	0	0
ACAN	176	broad.mit.edu	37	15	89382102	89382102	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:89382102C>A	ENST00000439576.2	+	3	653	c.279C>A	c.(277-279)cgC>cgA	p.R93R	ACAN_ENST00000558207.1_Silent_p.R93R|ACAN_ENST00000352105.7_Silent_p.R93R|ACAN_ENST00000561243.1_Silent_p.R93R|ACAN_ENST00000559004.1_Silent_p.R93R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	93					cell adhesion		hyaluronic acid binding|sugar binding	p.R93R(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAAGGGCGCGTGCGGGTCA	0.622000													25	78					2.41591e-17	3.6982e-17	0.024334	1	0
TMC5	79838	broad.mit.edu	37	16	19451967	19451967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:19451967G>T	ENST00000396229.2	+	3	1356	c.607G>T	c.(607-609)Gga>Tga	p.G203*	TMC5_ENST00000381414.4_Nonsense_Mutation_p.G203*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.G203*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.G203*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	203						integral to membrane		p.G203*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGACTCTCTGGGAAAGCCTGA	0.473000													29	87					5.60225e-13	7.85104e-13	0.009535	1	0
PLXNA2	5362	broad.mit.edu	37	1	208216417	208216417	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:208216417G>A	ENST00000367033.3	-	21	4763	c.4006C>T	c.(4006-4008)Cgg>Tgg	p.R1336W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1336					axon guidance	integral to membrane|intracellular|plasma membrane		p.R1336W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCAGCTCCCGCAGGACGGGG	0.607000													25	40					0	0	0.009535	0	0
SPG7	6687	broad.mit.edu	37	16	89603223	89603223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:89603223G>T	ENST00000341316.2	+	10	1382	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	339					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.G459*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAAGCTCAGAGGAAAGACCCC	0.597000													21	242					4.35082e-09	5.47983e-09	0.010504	1	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	267					0	0	0.021553	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889331	15889331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:15889331C>A	ENST00000285670.2	-	4	539	c.365G>T	c.(364-366)gGa>gTa	p.G122V	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.G54V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	54					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.G54E(1)|p.G54V(1)|p.G122V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACTTTGTTCTCCACTTCCATT	0.318000													6	34					3.59834e-05	4.13913e-05	0.021553	1	0
F2	2147	broad.mit.edu	37	11	46748375	46748375	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:46748375G>A	ENST00000311907.5	+	9	1174	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	F2_ENST00000530231.1_Missense_Mutation_p.G373D	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	373	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.G373D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCAGAGATCGGCATGTCACCT	0.617000													4	111					0	0	0.021553	0	0
BBS7	55212	broad.mit.edu	37	4	122774156	122774156	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:122774156C>T	ENST00000264499.4	-	8	987	c.804G>A	c.(802-804)gtG>gtA	p.V268V	BBS7_ENST00000506636.1_Silent_p.V268V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	268					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.V268V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAAAACTATACACTTCCACCA	0.318000									Bardet-Biedl syndrome				9	20					0	0	0.004482	0	0
RYR3	6263	broad.mit.edu	37	15	33962735	33962735	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:33962735G>A	ENST00000389232.4	+	38	5908	c.5838G>A	c.(5836-5838)acG>acA	p.T1946T	RYR3_ENST00000415757.3_Silent_p.T1946T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1946	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1946T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCAGCCGACGGAGGAGGAGG	0.453000													5	98					0	0	0.003080	0	0
ISL1	3670	broad.mit.edu	37	5	50683340	50683340	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:50683340T>A	ENST00000230658.7	+	3	820	c.235T>A	c.(235-237)Tgc>Agc	p.C79S	ISL1_ENST00000511384.1_Missense_Mutation_p.C79S|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	79	LIM zinc-binding 2.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C79S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CGGGATCAAATGCGCCAAGTG	0.627000													6	12					0	0	0.021553	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328953	44328953	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:44328953C>T	ENST00000216180.3	+	4	855	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	PNPLA3_ENST00000423180.2_Missense_Mutation_p.P224S|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	228					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	p.P228S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				AGCTTTTGTCCCCCCGGATCT	0.547000													38	86					0	0	0.036044	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100390	27100390	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:27100390T>G	ENST00000607124.1	-	1	139	c.140A>C	c.(139-141)aAg>aCg	p.K47T	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K47T|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K47T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	47					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.K47T(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTGGACCTGCTTCAGAACCTT	0.552000													5	260					0	0	0.021553	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725310	140725310	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:140725310C>A	ENST00000253812.6	+	1	1710	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.D570D(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.672000													11	192					4.14922e-12	5.73399e-12	0.028581	1	0
KIF5A	3798	broad.mit.edu	37	12	57974844	57974844	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:57974844G>A	ENST00000455537.2	+	24	2918	c.2644G>A	c.(2644-2646)Gcc>Acc	p.A882T	KIF5A_ENST00000286452.5_Missense_Mutation_p.A793T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	882					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.A882T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACTGAAGGAGGCCAAGGAGGG	0.577000													11	20					0	0	0.010729	0	0
CHKB	1120	broad.mit.edu	37	22	51020255	51020255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:51020255C>A	ENST00000406938.2	-	3	587	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	124					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	p.A124S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GCAAGTATGGCGAACATCACG	0.612000													20	65					5.26018e-13	7.42394e-13	0.012319	1	0
WDR89	112840	broad.mit.edu	37	14	64066555	64066555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:64066555G>A	ENST00000394942.2	-	2	194	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	WDR89_ENST00000267522.3_Nonsense_Mutation_p.Q36*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	36								p.Q36*(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTTCCTGCTTGGACAGTCTTT	0.348000													8	117					0	0	0.006214	0	0
NLRP7	199713	broad.mit.edu	37	19	55445884	55445884	+	Missense_Mutation	SNP	C	C	A	rs150034626	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:55445884C>A	ENST00000588756.1	-	9	2930	c.2444G>T	c.(2443-2445)cGc>cTc	p.R815L	NLRP7_ENST00000340844.2_Missense_Mutation_p.R815L|NLRP7_ENST00000590030.1_Missense_Mutation_p.R815L|NLRP7_ENST00000328092.5_Missense_Mutation_p.R787L|NLRP7_ENST00000592784.1_Missense_Mutation_p.R815L|NLRP7_ENST00000448121.2_Missense_Mutation_p.R787L|NLRP7_ENST00000446217.1_Missense_Mutation_p.R843L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	815							ATP binding	p.R815L(1)|p.R787L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGTTTTGGGCGTGTCATGGT	0.512000													28	97					6.07407e-21	9.51764e-21	0.034045	1	0
FGF23	8074	broad.mit.edu	37	12	4479687	4479687	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:4479687A>T	ENST00000237837.1	-	3	723	c.578T>A	c.(577-579)cTg>cAg	p.L193Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	193					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	p.L193Q(1)		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)			CCGGGGCTTCAGCACGTTCAG	0.682000													4	36					0	0	0.009096	0	0
TNNI3	7137	broad.mit.edu	37	19	55666180	55666180	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:55666180G>A	ENST00000344887.5	-	6	443	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.H76Y|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	101					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	p.H101Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACACGGGCGTGGAGCTGTCGG	0.572000													10	28					0	0	0.006214	0	0
DST	667	broad.mit.edu	37	6	56418066	56418066	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:56418066A>G	ENST00000370754.5	-	61	15430	c.15431T>C	c.(15430-15432)gTa>gCa	p.V5144A	DST_ENST00000370788.2_Missense_Mutation_p.V2878A|DST_ENST00000244364.6_Missense_Mutation_p.V2552A|DST_ENST00000361203.3_Missense_Mutation_p.V4964A|DST_ENST00000446842.2_Missense_Mutation_p.V4640A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.V4966A|DST_ENST00000421834.2_Missense_Mutation_p.V2878A			Q03001	DYST_HUMAN	dystonin	4964					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	p.V4966A(1)|p.V2552A(1)		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)			GAGAGTCTCTACTTGCTCTTT	0.358000													17	213					0	0	0.008871	0	0
PIGB	9488	broad.mit.edu	37	15	55611459	55611459	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:55611459C>A	ENST00000164305.5	+	1	302	c.11C>A	c.(10-12)cCc>cAc	p.P4H	PIGB_ENST00000539642.1_5'UTR|PIGB_ENST00000569909.1_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	4					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	p.P4H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATGAGGAGGCCCCTAAGCAAG	0.592000													3	19					0.00909568	0.00962787	0.009096	1	0
SQSTM1	8878	broad.mit.edu	37	5	179260106	179260106	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:179260106A>G	ENST00000389805.4	+	6	1007	c.829A>G	c.(829-831)Agc>Ggc	p.S277G	SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277G|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193G	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	p.S277G(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGTTCCAGCACAGAGGA	0.597000													13	53					0	0	0.024245	0	0
XAB2	56949	broad.mit.edu	37	19	7687539	7687539	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:7687539C>A	ENST00000358368.4	-	11	1417	c.1380G>T	c.(1378-1380)acG>acT	p.T460T	XAB2_ENST00000534844.1_Silent_p.T457T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	460					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.T457T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGGCAGCGCCGTGGCCTTCT	0.682000								Direct reversal of damage;Nucleotide excision repair (NER)					19	50					2.4624e-09	3.12113e-09	0.008871	1	0
NRXN3	9369	broad.mit.edu	37	14	80130126	80130126	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:80130126G>T	ENST00000281127.7	+	3	1314	c.435G>T	c.(433-435)caG>caT	p.Q145H	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.Q145H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Q777H|NRXN3_ENST00000554719.1_Missense_Mutation_p.Q777H|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Missense_Mutation_p.Q145H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	145	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.Q145H(1)|p.Q777H(1)		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)		TATAGGAACAGGGGAAAATTG	0.423000													5	22					0.0215528	0.0224555	0.021553	1	0
TM2D3	80213	broad.mit.edu	37	15	102191956	102191956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:102191956G>A	ENST00000333202.3	-	2	117	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	TM2D3_ENST00000559107.1_Nonsense_Mutation_p.Q38*|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	38						integral to membrane		p.Q38*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATTGACTGAGCCAGCGCC	0.448000													13	180					0	0	0.028581	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130126	187130126	+	Missense_Mutation	SNP	C	C	T	rs138444697		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:187130126C>T	ENST00000378802.4	+	9	1502	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	400					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R400C(1)|p.R400S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TTTATTTGCCCGTAGTGTTAG	0.433000													13	119					0	0	0.020292	0	0
CCDC108	255101	broad.mit.edu	37	2	219873855	219873855	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:219873855T>A	ENST00000341552.5	-	29	4671	c.4588A>T	c.(4588-4590)Agg>Tgg	p.R1530W	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1530W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1530W|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1530						integral to membrane	structural molecule activity	p.R1530W(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATACTGCCTCATGAGCTGC	0.582000													11	32					0	0	0.016723	0	0
BRD9	65980	broad.mit.edu	37	5	865602	865602	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:865602C>A	ENST00000323510.4	-	12	1331	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	BRD9_ENST00000483173.1_Missense_Mutation_p.E487D|BRD9_ENST00000388890.4_Missense_Mutation_p.E424D|BRD9_ENST00000467963.1_Missense_Mutation_p.E540D			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	540							nucleic acid binding	p.E444_R445>DC(1)|p.E540_R541>DC(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCCGCCGCGCTCCGCCTGTG	0.642000													28	122					1.88708e-17	2.91108e-17	0.037714	1	0
PUS7L	83448	broad.mit.edu	37	12	44148626	44148626	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:44148626G>A	ENST00000416848.2	-	2	911	c.423C>T	c.(421-423)gcC>gcT	p.A141A	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.A141A|PUS7L_ENST00000344862.5_Silent_p.A141A|PUS7L_ENST00000553166.1_Silent_p.A141A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	141					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.A141A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTACATCACAGGCAAAATTAT	0.368000													14	45					0	0	0.020292	0	0
CLPB	81570	broad.mit.edu	37	11	72006575	72006575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:72006575C>A	ENST00000294053.3	-	13	1710	c.1537G>T	c.(1537-1539)Gct>Tct	p.A513S	CLPB_ENST00000437826.2_Missense_Mutation_p.A468S|CLPB_ENST00000538021.1_Missense_Mutation_p.A121S|CLPB_ENST00000340729.5_Missense_Mutation_p.A454S|CLPB_ENST00000543042.1_Missense_Mutation_p.A312S|CLPB_ENST00000538039.1_Missense_Mutation_p.A483S	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	513					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	p.A513S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATCTCCAAAGCTTCCTGCCTC	0.567000													12	34					1.49906e-05	1.73438e-05	0.020292	1	0
SLC36A2	153201	broad.mit.edu	37	5	150722498	150722498	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:150722498G>T	ENST00000335244.4	-	4	520	c.391C>A	c.(391-393)Cta>Ata	p.L131I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.L131I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	131					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.L131I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGCTTCTAGTCCATGCATC	0.512000													17	54					5.3912e-06	6.38601e-06	0.006122	1	0
FAM117B	150864	broad.mit.edu	37	2	203630353	203630353	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:203630353C>T	ENST00000303116.6	+	8	1646	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	FAM117B_ENST00000392238.2_Silent_p.L546L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	546								p.L302L(1)|p.L546L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GACAACCACTCTGCTGCAGCC	0.557000													19	73					0	0	0.008871	0	0
IKZF3	22806	broad.mit.edu	37	17	37944531	37944531	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:37944531C>A	ENST00000346872.3	-	6	750	c.689G>T	c.(688-690)aGc>aTc	p.S230I	IKZF3_ENST00000377958.2_Missense_Mutation_p.S143I|IKZF3_ENST00000535189.1_Missense_Mutation_p.S196I|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.S87I|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S230I|IKZF3_ENST00000467757.1_Missense_Mutation_p.S174I|IKZF3_ENST00000346243.3_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	230					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S230I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGTCAGTGCTCTGAAGAAA	0.483000													7	29					8.12818e-05	9.24291e-05	0.029380	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807447	41807447	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:41807447G>T	ENST00000392006.3	+	11	1698	c.1525G>T	c.(1525-1527)Gtt>Ttt	p.V509F	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V509F|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V395F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V420F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V409F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	509	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.V509F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTAGACAAATGTTTATGGGTC	0.443000													36	120					6.53348e-20	1.01575e-19	0.017118	1	0
OR2B11	127623	broad.mit.edu	37	1	247615143	247615143	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247615143C>T	ENST00000318749.6	-	1	165	c.142G>A	c.(142-144)Gcc>Acc	p.A48T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48T(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGATGATGGCGACGTTCCCC	0.582000													40	126					0	0	0.025465	0	0
TTLL5	23093	broad.mit.edu	37	14	76231102	76231102	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:76231102G>T	ENST00000298832.9	+	19	1900	c.1695G>T	c.(1693-1695)agG>agT	p.R565S	TTLL5_ENST00000557636.1_Missense_Mutation_p.R579S|TTLL5_ENST00000554510.1_Missense_Mutation_p.R74S|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.R116S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	565					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.R565S(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGGCAATGAGGCCAAAATACC	0.498000													8	34					1.76689e-08	2.19757e-08	0.006214	1	0
CHKB	1120	broad.mit.edu	37	22	51021107	51021107	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:51021107C>T	ENST00000406938.2	-	1	321	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	CHKB_ENST00000463053.1_Intron	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	35					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	p.R35Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGCGCGCCGCCGTTTTGGGGT	0.711000													5	10					0	0	0.014758	0	0
CDH8	1006	broad.mit.edu	37	16	61687897	61687897	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:61687897C>T	ENST00000577390.1	-	12	2969	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	CDH8_ENST00000299345.6_Missense_Mutation_p.G672E|CDH8_ENST00000577730.1_Missense_Mutation_p.G672E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	672					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G672E(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTCCTCCCCTCCTCCTTCATC	0.398000													36	169					0	0	0.030466	0	0
SSPO	23145	broad.mit.edu	37	7	149480000	149480000	+	RNA	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:149480000C>T	ENST00000378016.2	+	0	1966							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCAGTGTGCGCCGAGCTTC	0.662000													5	34					0	0	0.021553	0	0
RYR2	6262	broad.mit.edu	37	1	237765338	237765338	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:237765338C>A	ENST00000366574.2	+	35	4927	c.4610C>A	c.(4609-4611)aCa>aAa	p.T1537K	RYR2_ENST00000360064.6_Missense_Mutation_p.T1535K|RYR2_ENST00000542537.1_Missense_Mutation_p.T1521K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1537	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T1535K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACCGAGTACAAAATTATTT	0.308000													8	29					0.000442599	0.000494816	0.006214	1	0
APBA2	321	broad.mit.edu	37	15	29390729	29390729	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:29390729G>T	ENST00000558402.1	+	10	1887	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	APBA2_ENST00000561069.1_Missense_Mutation_p.D430Y|APBA2_ENST00000558330.1_Missense_Mutation_p.D418Y|APBA2_ENST00000411764.1_Missense_Mutation_p.D418Y|APBA2_ENST00000558259.1_Missense_Mutation_p.D430Y			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	430	PID.				nervous system development|protein transport		protein binding	p.D430Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GACGGAAGTGGACCTCTTCAT	0.438000													17	54					8.28177e-16	1.23915e-15	0.007413	1	0
SYT6	148281	broad.mit.edu	37	1	114680333	114680333	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:114680333C>A	ENST00000393296.1	-	3	932	c.855G>T	c.(853-855)gtG>gtT	p.V285V	SYT6_ENST00000369547.1_Silent_p.V200V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	285	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V200V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCGGTGCACCCGGGTCT	0.552000													20	40					6.44725e-10	8.38564e-10	0.014323	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964342	88964342	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:88964342C>A	ENST00000333190.4	+	4	2655	c.2046C>A	c.(2044-2046)atC>atA	p.I682I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	682						intracellular	zinc ion binding	p.I682I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAACCACATCAGCATGACCA	0.433000										HNSCC(36;0.09)			14	45					6.72482e-11	9.04216e-11	0.024245	1	0
SEC16B	89866	broad.mit.edu	37	1	177901694	177901694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:177901694delT	ENST00000308284.6	-	24	3032	c.2943delA	c.(2941-2943)gafs	p.E981fs	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	981					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATCCTCGGCCTTCACCCCCAC	0.662													2	4	---	---	---	---					
TTC7A	57217	broad.mit.edu	37	2	47233194	47233195	+	Frame_Shift_Del	DEL	CG	CG	-	rs142616749		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:47233194_47233195delCG	ENST00000319190.5	+	9	1567_1568	c.1199_1200delCG	c.(1198-1200)tfs	p.S400fs	TTC7A_ENST00000394850.2_Frame_Shift_Del_p.S400fs|TTC7A_ENST00000263737.6_Frame_Shift_Del_p.S46fs|TTC7A_ENST00000409245.1_Frame_Shift_Del_p.S366fs|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	400							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCATGCTCTCGGAGGTACGGC	0.584													11	65	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73676086	73676093	+	Frame_Shift_Del	DEL	ACTCACAC	ACTCACAC	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:73676086_73676093delACTCACAC	ENST00000264448.6	+	8	2540_2547	c.2429_2436delACTCACAC	c.(2428-2436)tfs	p.YSH810fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.YSH810fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.YSH768fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	810	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTAGTGCATACTCACACAGAGAGAAGC	0.505													32	122	---	---	---	---					
LINC00698	285401	broad.mit.edu	37	3	63083118	63083119	+	RNA	INS	-	-	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:63083118_63083119insT	ENST00000468072.1	+	0	125					NR_027104.1																						GGAGGCTCCACTTGGTCTCCAG	0.559													23	144	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													2	4	---	---	---	---					
OSTCP1	202459	broad.mit.edu	37	6	159262512	159262512	+	RNA	DEL	A	A	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:159262512delA	ENST00000522287.1	-	0	831					NR_028496.1																						TCAGCAGGGGAAAAAAAAATA	0.328													2	4	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													5	5	---	---	---	---					
LAMC3	10319	broad.mit.edu	37	9	133946977	133946977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr9:133946977delG	ENST00000361069.4	+	18	3309	c.3176delG	c.(3175-3177)agfs	p.R1059fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1059	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGGCCCCAAGGGGGGACGTC	0.657													16	65	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	2	---	---	---	---					
PPIAP14	5486	broad.mit.edu	37	18	5002846	5002846	+	RNA	DEL	C	C	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:5002846delC	ENST00000584204.1	-	0	243																											GTCATGCCTTCTTTCACCTTG	0.473													20	58	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37248431	37248454	+	RNA	DEL	AGGGAGGAAGGAAGGAAGGAAGGA	AGGGAGGAAGGAAGGAAGGAAGGA	-	rs141334489	by1000genomes	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	ENST00000591629.1	-	0	282					NR_024391.1																						ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag	0.402													3	6	---	---	---	---					
DOT1L	84444	broad.mit.edu	37	19	2213544	2213544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:2213544delA	ENST00000398665.3	+	17	1600	c.1564delA	c.(1564-1566)acfs	p.N522fs	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	522						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGAGAAGAACGCCCAGCT	0.607													22	54	---	---	---	---					
