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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut	init_n_lod
MATN1	4146	broad.mit.edu	37	1	31188944	31188944	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:31188944G>A	uc001brz.2	-	5	1053	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.A258V	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	340	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCACAGCCGCCTTGATGTC	0.572000													59	18					0	0	0.048971	0	0	
Unknown	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	T	T	rs4950650		TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:148889678C>T	uc009wkv.1	+	7		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000													5	51					0	0	0.038147	0	0	
HRNR	388697	broad.mit.edu	37	1	152192589	152192589	+	Nonsense_Mutation	SNP	G	A	A	rs115929005		TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:152192589G>A	uc001ezt.1	-	3	1592	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	506	5.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTTGTCGTTCACCCCTA	0.557000													181	268					0	0	0.048971	0	0	
ARHGEF11	9826	broad.mit.edu	37	1	156909511	156909511	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:156909511C>T	uc001fqo.2	-	36	4845	c.3805G>A	c.(3805-3807)GGG>AGG	p.G1269R	ARHGEF11_uc010phu.1_Missense_Mutation_p.G685R|ARHGEF11_uc001fqn.2_Missense_Mutation_p.G1309R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1269					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCAGCCCTGCAAGCTGG	0.612000													20	21					0	0	0.043863	0	0	
ARHGAP30	257106	broad.mit.edu	37	1	161018192	161018192	+	Silent	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:161018192G>A	uc001fxl.2	-	12	2965	c.2619C>T	c.(2617-2619)GAC>GAT	p.D873D	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.D719D|ARHGAP30_uc009wtx.2_Silent_p.D546D	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	873	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTTGGCACAGTCAACCTCCA	0.587000													41	84					0	0	0.104719	0	0	
HMCN1	83872	broad.mit.edu	37	1	186057138	186057138	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:186057138T>A	uc001grq.1	+	61	9667	c.9438T>A	c.(9436-9438)AAT>AAA	p.N3146K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3146	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCCACCTCAATGTATATGGTG	0.343000													7	63					0	0	0.047766	0	0	
CACNA1S	779	broad.mit.edu	37	1	201023635	201023635	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:201023635C>T	uc001gvv.2	-	29	3891	c.3664G>A	c.(3664-3666)GTT>ATT	p.V1222I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1222	IV.|Extracellular (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAATTACAACGTTCCCGCAG	0.498000													5	29					0	0	0.014758	0	0	
PIK3C2B	5287	broad.mit.edu	37	1	204429064	204429064	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:204429064G>C	uc001haw.2	-	9	1987	c.1508C>G	c.(1507-1509)GCC>GGC	p.A503G	PIK3C2B_uc010pqv.1_Missense_Mutation_p.A503G|PIK3C2B_uc001hax.1_Missense_Mutation_p.A503G|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	503					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAGACTCAGGGCCTGCCTGGG	0.577000													4	16					0	0	0.009096	0	0	
ANKRD30A	91074	broad.mit.edu	37	10	37431066	37431066	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:37431066C>A	uc001iza.1	+	7	1172	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAGGAAGACCTAGGAAGATC	0.403000													44	78					1.57945e-13	1.8909e-13	0.042209	1	0	
CHUK	1147	broad.mit.edu	37	10	101979084	101979084	+	Silent	SNP	G	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:101979084G>C	uc001kqp.2	-	6	562	c.507C>G	c.(505-507)GCC>GCG	p.A169A		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	169	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CAACATCTTTGGCATATCCCA	0.313000													28	55					0	0	0.030593	0	0	
OR5W2	390148	broad.mit.edu	37	11	55681260	55681260	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:55681260A>T	uc010rir.1	-	1	799	c.799T>A	c.(799-801)TCT>ACT	p.S267T		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGATCTAGAGAATAGGAAGAA	0.438000													7	86					0	0	0.029380	0	0	
OR5M1	390168	broad.mit.edu	37	11	56380308	56380308	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:56380308G>A	uc001nja.1	-	1	671	c.671C>T	c.(670-672)GCG>GTG	p.A224V		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CCTGAAGATCGCTGCAAAAAT	0.443000													36	42					0	0	0.098360	0	0	
ZP1	22917	broad.mit.edu	37	11	60641001	60641001	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:60641001C>A	uc001nqd.2	+	8	1414	c.1394C>A	c.(1393-1395)CCC>CAC	p.P465H	ZP1_uc001nqe.2_Missense_Mutation_p.P172H	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	465	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						AGTGCCAACCCCTTCCAGCAG	0.637000													42	61					1.32136e-16	1.62776e-16	0.104719	1	0	
NRXN2	9379	broad.mit.edu	37	11	64375009	64375009	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:64375009C>T	uc001oap.2	-	8	2171	c.1660G>A	c.(1660-1662)GTG>ATG	p.V554M	NRXN2_uc001oar.2_Missense_Mutation_p.V1600M|NRXN2_uc001oas.2_Missense_Mutation_p.V1530M|NRXN2_uc001oao.2_Missense_Mutation_p.V240M|NRXN2_uc001oaq.2_Missense_Mutation_p.V1267M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	554	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCTGAGGTCACGCCGGGGCGC	0.756000													6	5					0	0	0.021553	0	0	
CNTN5	53942	broad.mit.edu	37	11	99872816	99872816	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:99872816G>T	uc001pga.2	+	9	1267	c.928G>T	c.(928-930)GTT>TTT	p.V310F	CNTN5_uc009ywv.1_Missense_Mutation_p.V310F|CNTN5_uc001pfz.2_Missense_Mutation_p.V310F|CNTN5_uc001pgb.2_Missense_Mutation_p.V236F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	310	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCTTTCACGGTTACAGCTGC	0.333000													10	8					4.68919e-08	5.31441e-08	0.069234	1	0	
PIWIL1	9271	broad.mit.edu	37	12	130841471	130841471	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr12:130841471C>A	uc001uik.2	+	13	1503	c.1413C>A	c.(1411-1413)TAC>TAA	p.Y471*	PIWIL1_uc001uij.1_Nonsense_Mutation_p.Y471*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	471					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGTTTGATTACAATCCACAAT	0.363000													14	33					0.00244969	0.00270421	0.020292	1	0	
DACH1	1602	broad.mit.edu	37	13	72440210	72440210	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr13:72440210G>T	uc010thn.1	-	2	1115	c.692C>A	c.(691-693)ACC>AAC	p.T231N	DACH1_uc010tho.1_Missense_Mutation_p.T231N|DACH1_uc010thp.1_Missense_Mutation_p.T231N	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	231	Interaction with SIX6 and HDAC3 (By similarity).|DACHbox-N.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCAGCTTGGTGTAGACCGT	0.617000													19	96					1.01871e-10	1.20265e-10	0.049695	1	0	
RTN1	6252	broad.mit.edu	37	14	60194301	60194301	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr14:60194301C>T	uc001xen.1	-	3	1310	c.1101G>A	c.(1099-1101)TCG>TCA	p.S367S	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	367					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGGTTTCATACGATAATCCCT	0.622000													3	10					0	0	0.004672	0	0	
HIF1A	3091	broad.mit.edu	37	14	62207881	62207881	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr14:62207881G>A	uc001xfq.2	+	12	2472	c.2068G>A	c.(2068-2070)GTG>ATG	p.V690M	HIF1A_uc001xfr.2_Missense_Mutation_p.V690M|HIF1A_uc001xfs.2_Missense_Mutation_p.V691M	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	690	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AAGCCCTAACGTGTTATCTGT	0.343000													18	4					0	0	0.038395	0	0	
DUOX1	53905	broad.mit.edu	37	15	45444704	45444704	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr15:45444704C>T	uc001zus.1	+	26	3760	c.3414C>T	c.(3412-3414)ATC>ATT	p.I1138I	DUOX1_uc001zut.1_Silent_p.I1138I|DUOX1_uc010bee.1_Silent_p.I518I|DUOX1_uc001zuu.2_Silent_p.I280I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1138	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCACCGCCATCGTCCTCACAG	0.662000													22	9					0	0	0.076483	0	0	
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	RNA	SNP	C	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr15:82635163C>G	uc002bgx.2	-	5		c.417G>C						A6NI86	GG6LA_HUMAN	Homo sapiens cDNA FLJ40113 fis, clone TESTI2008621.												0						CCCTGTTCTCCGCAGCCCGAA	0.478000													8	18					0	0	0.047766	0	0	
NTRK3	4916	broad.mit.edu	37	15	88576112	88576112	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr15:88576112G>T	uc002bme.1	-	13	1723	c.1561C>A	c.(1561-1563)CAC>AAC	p.H521N	NTRK3_uc002bmh.2_Missense_Mutation_p.H513N|NTRK3_uc002bmf.1_Missense_Mutation_p.H521N|NTRK3_uc010upl.1_Missense_Mutation_p.H423N|NTRK3_uc010bnh.1_Missense_Mutation_p.H513N|NTRK3_uc002bmg.2_Missense_Mutation_p.H521N|NTRK3_uc010bni.2_RNA	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	521	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGCAGTTGTGTCCCTGACGG	0.587000			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			17	28					4.7546e-09	5.46137e-09	0.028581	1	0	
CLCN7	1186	broad.mit.edu	37	16	1510888	1510888	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:1510888C>T	uc002clv.2	-	5	523	c.413G>A	c.(412-414)GGC>GAC	p.G138D	CLCN7_uc002clw.2_Missense_Mutation_p.G114D	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	138	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GGCCACGAGGCCCGTGAGGAT	0.642000													3	41					0	0	0.004672	0	0	
ZNF500	26048	broad.mit.edu	37	16	4802555	4802555	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:4802555G>A	uc002cxp.1	-	6	1512	c.1265C>T	c.(1264-1266)TCG>TTG	p.S422L	ZNF500_uc002cxo.1_Missense_Mutation_p.S214L|ZNF500_uc010uxt.1_Missense_Mutation_p.S422L	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	422	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GCTGAAGTGCGAGCTGTTGTT	0.687000													2	1					0	0	0.004672	0	0	
A2BP1	54715	broad.mit.edu	37	16	7629790	7629790	+	Silent	SNP	C	T	T	rs145861898	byFrequency	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:7629790C>T	uc002cys.2	+	6	1270	c.282C>T	c.(280-282)GAC>GAT	p.D94D	A2BP1_uc010buf.1_Silent_p.D94D|A2BP1_uc002cyr.1_Silent_p.D93D|A2BP1_uc002cyt.2_Silent_p.D94D|A2BP1_uc010uxz.1_Silent_p.D137D|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.D94D|A2BP1_uc010uyb.1_Silent_p.D94D|A2BP1_uc002cyw.2_Silent_p.D114D|A2BP1_uc002cyy.2_Silent_p.D114D|A2BP1_uc002cyx.2_Silent_p.D114D|A2BP1_uc010uyc.1_Silent_p.D114D	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	94					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AGACAGATGACGCAGCACCGA	0.517000													27	113					0	0	0.041601	0	0	
ZNF821	55565	broad.mit.edu	37	16	71894501	71894501	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:71894501C>T	uc010vmj.1	-	7	1035	c.659G>A	c.(658-660)GGG>GAG	p.G220E	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.G70E|ZNF821_uc002fbf.2_Missense_Mutation_p.G178E|ZNF821_uc002fbg.3_Missense_Mutation_p.G70E|ZNF821_uc002fbh.3_Missense_Mutation_p.G178E|ZNF821_uc002fbi.3_Missense_Mutation_p.G17E	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AATATCCTTCCCCTCAGCACT	0.493000													7	64					0	0	0.029380	0	0	
MYO1C	4641	broad.mit.edu	37	17	1383891	1383891	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:1383891T>C	uc002fsp.2	-	7	1056	c.836A>G	c.(835-837)AAC>AGC	p.N279S	MYO1C_uc002fsn.2_Missense_Mutation_p.N260S|MYO1C_uc002fso.2_Missense_Mutation_p.N244S|MYO1C_uc010vqj.1_Missense_Mutation_p.N244S|MYO1C_uc010vqk.1_Missense_Mutation_p.N255S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	279	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTCTTGTCGTTGATGGAGGA	0.607000													21	61					0	0	0.062417	0	0	
PLD2	5338	broad.mit.edu	37	17	4721623	4721623	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:4721623G>T	uc002fzc.2	+	19	2053	c.1952G>T	c.(1951-1953)CGG>CTG	p.R651L	PLD2_uc010vsj.1_3'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.R651L	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	651	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TCAGATGGGCGGACGGTTCTG	0.567000													9	54					1.12685e-05	1.26029e-05	0.047766	1	0	
HS3ST3B1	9953	broad.mit.edu	37	17	14204920	14204920	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:14204920G>A	uc002goh.1	+	1	415	c.85G>A	c.(85-87)GTG>ATG	p.V29M	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	29	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		cccgccgccggTGAGGAGGAA	0.622000													23	19					0	0	0.076483	0	0	
SUZ12P	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	C	C	rs112064181	by1000genomes	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:29061941T>C	uc002hfn.1	+	2		c.1143T>C			SUZ12P_uc002hfo.2_Intron|SUZ12P_uc002hfp.2_RNA|SUZ12P_uc002hfq.2_RNA					Homo sapiens cDNA clone IMAGE:5299523, containing frame-shift errors.												0						TAGATTTCTTTGAACTCGGAA	0.303000													8	69					0	0	0.038147	0	0	
TANC2	26115	broad.mit.edu	37	17	61497864	61497864	+	Silent	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:61497864G>A	uc002jal.3	+	25	4544	c.4521G>A	c.(4519-4521)CCG>CCA	p.P1507P	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.P618P	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1507							binding			ovary(2)	2						ACACTTCCCCGGCTCATCAGG	0.587000													5	45					0	0	0.021553	0	0	
SPHK1	8877	broad.mit.edu	37	17	74382134	74382134	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:74382134A>G	uc002jrf.1	+	5	888	c.79A>G	c.(79-81)AAG>GAG	p.K27E	SPHK1_uc002jrg.1_5'UTR|SPHK1_uc010wtc.1_Missense_Mutation_p.K113E|SPHK1_uc002jrh.2_Missense_Mutation_p.K41E|SPHK1_uc002jrj.2_Missense_Mutation_p.K113E|SPHK1_uc002jri.2_Missense_Mutation_p.K27E|SPHK1_uc002jrk.3_Missense_Mutation_p.K27E	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	27	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GCGCGGCGGCAAGGGCAAGGC	0.657000											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	15					0	0	0.038395	0	0	
UPF1	5976	broad.mit.edu	37	19	18966037	18966037	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:18966037C>T	uc002nkg.2	+	11	1838	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	UPF1_uc002nkf.2_Silent_p.A510A	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	521					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACCACCTGGCCCGGCAAGGCA	0.662000													22	28					0	0	0.069288	0	0	
PLEKHG2	64857	broad.mit.edu	37	19	39912813	39912813	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:39912813C>G	uc010xuz.1	+	17	1887	c.1562C>G	c.(1561-1563)TCT>TGT	p.S521C	PLEKHG2_uc010xuy.1_Missense_Mutation_p.S462C|PLEKHG2_uc002olj.2_Missense_Mutation_p.S521C|PLEKHG2_uc010xva.1_Missense_Mutation_p.S299C	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	521					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTTCAGGCTCTGCACCCCCT	0.582000													6	17					0	0	0.021553	0	0	
TGFB1	7040	broad.mit.edu	37	19	41847896	41847896	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:41847896T>G	uc002oqh.1	-	5	1619	c.752A>C	c.(751-753)CAT>CCT	p.H251P	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	251					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)	GTTCATGCCATGAATGGTGGC	0.607000													8	36					0	0	0.038147	0	0	
PPFIA3	8541	broad.mit.edu	37	19	49637939	49637939	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:49637939A>G	uc002pmr.2	+	12	1753	c.1421A>G	c.(1420-1422)GAT>GGT	p.D474G	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.D398G|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.D342G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	474	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AAGCTTCAGGATGAGTTGCTG	0.607000													11	134					0	0	0.105934	0	0	
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:49926533G>C	uc002pnn.1	-	1	166	c.64C>G	c.(64-66)CTG>GTG	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	parathyroid hormone 2 preproprotein	22					neuropeptide signaling pathway	extracellular region					0				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.597000													3	29					0	0	0.014758	0	0	
SIGLEC7	27036	broad.mit.edu	37	19	51656357	51656357	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:51656357G>A	uc002pvv.1	+	7	1328	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R327Q|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	420	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GATAACCCCCGACACCATGGC	0.547000													70	112					0	0	0.048971	0	0	
LILRA2	11027	broad.mit.edu	37	19	55086410	55086410	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:55086410C>T	uc002qgg.3	+	4	654	c.565C>T	c.(565-567)CGC>TGC	p.R189C	LILRA2_uc010ern.2_Missense_Mutation_p.R189C|LILRA2_uc002qgf.2_Missense_Mutation_p.R189C|LILRA2_uc010yfe.1_Missense_Mutation_p.R189C|LILRA2_uc010yff.1_Missense_Mutation_p.R177C|LILRA2_uc010ero.2_Missense_Mutation_p.R177C|LILRA2_uc010yfg.1_Missense_Mutation_p.R189C	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	189	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCGAGTCGCAGGTGGTC	0.572000													75	83					0	0	0.048971	0	0	
NLRP8	126205	broad.mit.edu	37	19	56467135	56467135	+	Missense_Mutation	SNP	G	A	A	rs147105419	byFrequency	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:56467135G>A	uc002qmh.2	+	3	1782	c.1711G>A	c.(1711-1713)GTG>ATG	p.V571M	NLRP8_uc010etg.2_Missense_Mutation_p.V571M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	571						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCTTCGGCCGTGGAACAGTC	0.493000													5	53					0	0	0.021553	0	0	
TTC21B	79809	broad.mit.edu	37	2	166802093	166802093	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:166802093G>A	uc002udk.2	-	4	503	c.370C>T	c.(370-372)CAT>TAT	p.H124Y	TTC21B_uc002udl.2_Missense_Mutation_p.H124Y|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	124	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCTTTATCATGGCGACCAATG	0.353000													26	28					0	0	0.108266	0	0	
C2orf60	129450	broad.mit.edu	37	2	200797977	200797977	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:200797977G>A	uc002uvi.3	-	8	1027	c.761C>T	c.(760-762)CCA>CTA	p.P254L	C2orf60_uc002uvj.3_Missense_Mutation_p.P91L|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.P91L	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	254	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						GCATTCAGATGGAAGGTGCTT	0.378000													52	88					0	0	0.048971	0	0	
MDH1B	130752	broad.mit.edu	37	2	207619947	207619947	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:207619947C>T	uc002vbs.2	-	5	751	c.696G>A	c.(694-696)AGG>AGA	p.R232R	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.R232R|MDH1B_uc010fuj.2_Silent_p.R134R|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	232					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGAGAGGCACCCTGCTTCGGA	0.552000													28	29					0	0	0.108266	0	0	
FOXA2	3170	broad.mit.edu	37	20	22563496	22563496	+	Silent	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr20:22563496G>T	uc002wsn.2	-	3	556	c.366C>A	c.(364-366)GGC>GGA	p.G122G	FOXA2_uc002wsm.2_Silent_p.G128G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	122					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					GGGCCAGGCCGCCCATGGCCC	0.756000													4	16					0.00909568	0.00991196	0.009096	1	0	
ADRM1	11047	broad.mit.edu	37	20	60883474	60883474	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr20:60883474C>T	uc002ycn.2	+	9	1145	c.1065C>T	c.(1063-1065)CTC>CTT	p.L355L	ADRM1_uc002yco.2_Silent_p.L355L	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	355					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGCCCCCTCATGTGCCAGT	0.697000													14	12					0	0	0.024245	0	0	
ERC2	26059	broad.mit.edu	37	3	56468846	56468846	+	Silent	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr3:56468846G>A	uc003dhr.1	-	2	446	c.190C>T	c.(190-192)CTG>TTG	p.L64L		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	64						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGATCACTCAGATACATGGGT	0.512000													64	85					0	0	0.048971	0	0	
KIF4B	285643	broad.mit.edu	37	5	154394974	154394974	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:154394974C>A	uc010jih.1	+	1	1715	c.1555C>A	c.(1555-1557)CAA>AAA	p.Q519K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	519	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCTCTCCATCAAGCTCAGAT	0.488000													36	67					5.8336e-16	7.08366e-16	0.059317	1	0	
NKX2-5	1482	broad.mit.edu	37	5	172661792	172661792	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:172661792C>T	uc003mcm.1	-	1	471	c.295G>A	c.(295-297)GAC>AAC	p.D99N	NKX2-5_uc011dfe.1_Missense_Mutation_p.D99N|NKX2-5_uc010jjt.1_Missense_Mutation_p.D99N	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	99	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGTCGGGGTCGCTGTAGGCA	0.657000													16	26					0	0	0.043863	0	0	
HIST1H3E	8353	broad.mit.edu	37	6	26225435	26225435	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:26225435G>T	uc003nhb.2	+	2	413	c.53G>T	c.(52-54)CGC>CTC	p.R18L	HIST1H3E_uc003nhc.3_Missense_Mutation_p.R18L	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AAAGCACCGCGCAAACAGCTG	0.592000													50	20					2.01872e-29	2.63986e-29	0.048971	1	0	
CCHCR1	54535	broad.mit.edu	37	6	31124558	31124558	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:31124558C>T	uc003nsr.3	-	3	303	c.180G>A	c.(178-180)ATG>ATA	p.M60I	CCHCR1_uc011dne.1_Missense_Mutation_p.M60I|CCHCR1_uc003nsq.3_Missense_Mutation_p.M113I|CCHCR1_uc003nsp.3_Missense_Mutation_p.M149I|CCHCR1_uc010jsk.1_Missense_Mutation_p.M60I|TCF19_uc003nss.2_5'Flank|TCF19_uc003nst.2_5'Flank	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	60					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CCCGTTCCCACATGGTCACTT	0.592000													75	36					0	0	0.048971	0	0	
MYO6	4646	broad.mit.edu	37	6	76623819	76623819	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:76623819G>A	uc003pih.1	+	34	3758	c.3479G>A	c.(3478-3480)CGG>CAG	p.R1160Q	MYO6_uc003pii.1_Missense_Mutation_p.R1137Q|MYO6_uc003pij.1_Missense_Mutation_p.R108Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1169					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCCAGGCAGCGGGAGATTGAA	0.493000													43	89					0	0	0.042209	0	0	
CASP8AP2	9994	broad.mit.edu	37	6	90576103	90576103	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:90576103C>T	uc003pnr.2	+	8	3290	c.3094C>T	c.(3094-3096)CCC>TCC	p.P1032S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1032S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1032S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1032					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TATTGCTGTACCCTCTTCTGA	0.303000													7	13					0	0	0.038147	0	0	
TXNDC3	51314	broad.mit.edu	37	7	37890317	37890317	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:37890317G>A	uc003tfn.2	+	5	550	c.178G>A	c.(178-180)GAA>AAA	p.E60K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	60	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GAACGAAGACGAAATTCTGCA	0.323000									Kartagener_syndrome				42	52					0	0	0.039052	0	0	
GLI3	2737	broad.mit.edu	37	7	42005045	42005045	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:42005045G>T	uc011kbh.1	-	15	3717	c.3626C>A	c.(3625-3627)CCT>CAT	p.P1209H	GLI3_uc011kbg.1_Missense_Mutation_p.P1150H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1209					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCCCAGCAGGCCCGCTCCT	0.652000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				31	43					1.7881e-09	2.08204e-09	0.037714	1	0	
COG5	10466	broad.mit.edu	37	7	107053002	107053002	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:107053002C>T	uc003ved.2	-	7	1232	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	COG5_uc003vec.2_Missense_Mutation_p.R236Q|COG5_uc003vee.2_Missense_Mutation_p.R236Q	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	236					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CACTTCAAGTCGGGCTCTTGC	0.323000													36	57					0	0	0.086207	0	0	
PREX2	80243	broad.mit.edu	37	8	69002905	69002905	+	Silent	SNP	C	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr8:69002905C>T	uc003xxv.1	+	20	2232	c.2205C>T	c.(2203-2205)GTC>GTT	p.V735V	PREX2_uc003xxu.1_Silent_p.V735V|PREX2_uc011lez.1_Silent_p.V670V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	735	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATGCCAGTGTCATTGCACACG	0.473000													38	54					0	0	0.080422	0	0	
CNBD1	168975	broad.mit.edu	37	8	87917328	87917328	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr8:87917328T>G	uc003ydy.2	+	3	226	c.178T>G	c.(178-180)TTA>GTA	p.L60V		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	60										ovary(3)	3						GAGCAATATCTTATCAGCTCA	0.338000													9	14					0	0	0.058154	0	0	
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr9:20414379G>A	uc003zoe.2	-	5	724	c.465C>T	c.(463-465)AGC>AGT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Silent_p.S123S	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.149000			T	MLL	ALL								4	22					0	0	0.009096	0	0	
TMEM8B	51754	broad.mit.edu	37	9	35853551	35853551	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr9:35853551G>A	uc003zym.2	+	14	2148	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	TMEM8B_uc003zyo.2_Missense_Mutation_p.R378H	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	378	Cytoplasmic (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						ACGTGGCGCCGCTGGCTTTTC	0.597000													38	11					0	0	0.086207	0	0	
VCX3A	51481	broad.mit.edu	37	X	6451825	6451825	+	Silent	SNP	C	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:6451825C>A	uc004crs.2	-	3	829	c.522G>T	c.(520-522)CTG>CTT	p.L174L	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	174	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|8.|Glu-rich.				brain development	nucleolus					0						TCTCCTGACTCAGTGGTTCCT	0.587000													75	341					7.53784e-56	1.00112e-55	0.048971	1	0	
VCX	26609	broad.mit.edu	37	X	7812018	7812018	+	Silent	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:7812018G>T	uc004crz.2	+	3	801	c.582G>T	c.(580-582)CCG>CCT	p.P194P		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	194	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|10.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGGAACCACCGAGTCAGGAGA	0.582000													34	250					8.28887e-21	1.05157e-20	0.048971	1	0	
CCNB3	85417	broad.mit.edu	37	X	50056925	50056925	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:50056925G>T	uc004dox.3	+	8	3791	c.3493G>T	c.(3493-3495)GTG>TTG	p.V1165L	CCNB3_uc004doy.2_Missense_Mutation_p.V1165L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.V57L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1165					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGCCATTCTTGTGGACTGGTT	0.443000													34	54					1.30998e-17	1.63748e-17	0.080422	1	0	
SSX7	280658	broad.mit.edu	37	X	52682034	52682034	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:52682034A>C	uc004dqx.1	-	3	229	c.70T>G	c.(70-72)TCC>GCC	p.S24A		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	24	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					TCATCGAAGGACTAGGAAAAG	0.423000													3	103					0	0	0.009096	0	0	
ITIH5L	347365	broad.mit.edu	37	X	54817436	54817436	+	Silent	SNP	T	C	C			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:54817436T>C	uc004dtj.2	-	4	480	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	150	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCTGAAGCAGTTCCTCATAGG	0.582000													9	28					0	0	0.047766	0	0	
ZCCHC13	389874	broad.mit.edu	37	X	73524418	73524418	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:73524418G>A	uc004ebs.3	+	1	394	c.317G>A	c.(316-318)CGT>CAT	p.R106H		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	106	CCHC-type 4.						nucleic acid binding|zinc ion binding				0						GACTGTGATCGTCAGAAAGAG	0.532000													36	28					0	0	0.080422	0	0	
RPS6KA6	27330	broad.mit.edu	37	X	83319320	83319320	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:83319320G>A	uc004eej.1	-	22	2280	c.2203C>T	c.(2203-2205)CGG>TGG	p.R735W	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R735W|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R632W	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	735					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTCATGCTCCGTCGCTGGGCT	0.448000													6	5					0	0	0.029380	0	0	
USP54	159195	broad.mit.edu	37	10	75290191	75290194	+	Frame_Shift_Del	DEL	CTGA	-	-			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:75290191_75290194delCTGA	uc001juo.2	-	12	1552_1555	c.1535_1538delTCAG	c.(1534-1539)GTCAGCfs	p.V512fs	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Frame_Shift_Del_p.V512fs|USP54_uc010qkl.1_Frame_Shift_Del_p.V512fs	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	512_513					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GATCATATTGCTGACTGTCTCTTT	0.480													37	44	---	---	---	---						.
HECTD2	143279	broad.mit.edu	37	10	93170292	93170292	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:93170292delA	uc001khl.2	+	1	197	c.97delA	c.(97-99)AAGfs	p.K33fs	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Frame_Shift_Del_p.K33fs|HECTD2_uc010qnm.1_Frame_Shift_Del_p.K33fs|HECTD2_uc001khm.2_RNA	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	33					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						AGAGCGCGAGAAGCTGCCGCC	0.736													2	4	---	---	---	---						.
FPR3	2359	broad.mit.edu	37	19	52327718	52327734	+	Frame_Shift_Del	DEL	CTTACGTGTCTTCGCTG	-	-	rs116930736	by1000genomes	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:52327718_52327734delCTTACGTGTCTTCGCTG	uc002pxt.1	+	2	901_917	c.717_733delCTTACGTGTCTTCGCTG	c.(715-735)CCCTTACGTGTCTTCGCTGCTfs	p.P239fs		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	239_245	Helical; Name=6; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						CCAGCCGTCCCTTACGTGTCTTCGCTGCTGTGGTGGC	0.438													11	24	---	---	---	---						.
CSF1R	1436	broad.mit.edu	37	5	149437078	149437078	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08									Somatic	Phase_I	Capture				Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:149437078delA	uc003lrl.2	-	15	2405	c.2210delT	c.(2209-2211)TTCfs	p.F737fs	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Frame_Shift_Del_p.F737fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	737	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGCTCAGAGAAGGAGTCATT	0.577													43	84	---	---	---	---						.
