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
TNFRSF25	8718	broad.mit.edu	37	1	6522120	6522120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:6522120C>A	uc001anh.3	-	8	974	c.886G>T	c.(886-888)Gag>Tag	p.E296*	TNFRSF25_uc001ana.3_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Nonsense_Mutation_p.E287*|TNFRSF25_uc001anf.3_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.3_Nonsense_Mutation_p.E242*	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	287					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGTCTCGGGGTAGCCA	0.627												
LPHN2	23266	broad.mit.edu	37	1	82456163	82456163	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:82456163G>C	uc001dit.4	+	20	3727	c.3546G>C	c.(3544-3546)aaG>aaC	p.K1182N	LPHN2_uc001dis.3_Missense_Mutation_p.K162N|LPHN2_uc001diu.3_Missense_Mutation_p.K1182N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.K809N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1238					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTGCACAAGGGTGACTATA	0.413												
DCAF8	5824	broad.mit.edu	37	1	160254853	160254853	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:160254853A>G	uc001fvs.2	-	0	89	c.62T>C	c.(61-63)cTt>cCt	p.L21P	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.L21P|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTTCCAGAAGCTCCTCCAA	0.597												
ARID4B	51742	broad.mit.edu	37	1	235345301	235345301	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:235345301C>T	uc021pks.1	-	19	3310	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	ARID4B_uc001hwq.3_Missense_Mutation_p.C978Y|ARID4B_uc001hwr.3_Missense_Mutation_p.C892Y|ARID4B_uc001hws.4_Missense_Mutation_p.C892Y|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.C659Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGGTGAACAACTCTCCTC	0.493												
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:247875180C>T	uc001idj.1	-	0	878	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(2)|p.R293H(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCCTTATTACGAAGCGTATA	0.438												
COMMD3-BMI1	648	broad.mit.edu	37	10	22615862	22615862	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:22615862T>G	uc009xkg.3	+	6	620	c.585T>G	c.(583-585)taT>taG	p.Y195*	COMMD3-BMI1_uc001irh.3_Nonsense_Mutation_p.Y52*	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	52	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										CCAGCAAGTATTGTCCTATTT	0.343												
C10orf71	118461	broad.mit.edu	37	10	50531485	50531485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:50531485G>A	uc021pqb.1	+	0	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	C10orf71_uc021pqa.1_Missense_Mutation_p.E298K|C10orf71_uc021pqc.1_Missense_Mutation_p.E299K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	299										endometrium(1)	1						AACCGTCCCAGAAAGCAAAGC	0.542												
PTEN	5728	broad.mit.edu	37	10	89711882	89711882	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:89711882C>G	uc001kfb.3	+	5	1532	c.500C>G	c.(499-501)aCt>aGt	p.T167S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	167	Phosphatase tensin-type.		T -> P (in breast cancer; severely reduced protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.V166fs*17(6)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.T167I(2)|p.V166fs*10(2)|p.Y27fs*1(2)|p.T167S(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.V166I(1)|p.V166L(1)|p.G165_K342del(1)|p.T167P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGGGAGTAACTATTCCCAGT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
KNDC1	85442	broad.mit.edu	37	10	135012314	135012314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:135012314A>C	uc001llz.1	+	13	2303	c.2302A>C	c.(2302-2304)Aac>Cac	p.N768H	KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	768	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCCCAGCAAACCAGCCAGA	0.731												
MYOD1	4654	broad.mit.edu	37	11	17741852	17741852	+	Missense_Mutation	SNP	G	G	T	rs143600911		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr11:17741852G>T	uc001mni.3	+	0	743	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	175					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCTGGCGCCGCAGCCGCCTT	0.741												
OVOS2	144203	broad.mit.edu	37	12	31288993	31288993	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:31288993G>A	uc010sjy.1	-	16	2328	c.2328C>T	c.(2326-2328)gtC>gtT	p.V776V						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAGGTTGGGAGACTTCTAGAG	0.423												
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:129558863C>A	uc009zyl.1	-	8	3185	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	953						integral to membrane		p.E953*(2)|p.F952L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458												
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr13:101795440G>A	uc001vox.1	-	16	2298	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	NALCN_uc001voy.3_Silent_p.I418I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(4)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468												
CDKL1	8814	broad.mit.edu	37	14	50862534	50862534	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:50862534A>G	uc010anu.2	-	4	623	c.623T>C	c.(622-624)gTt>gCt	p.V208A	CDKL1_uc001wxz.3_Missense_Mutation_p.V19A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	18	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACATTTGAAAACAACTCCATA	0.398												
KCNH5	27133	broad.mit.edu	37	14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:63447847C>T	uc001xfx.3	-	5	736	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_uc001xfy.3_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.3_Missense_Mutation_p.A171T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	229					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A229T(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383												
HERC2	8924	broad.mit.edu	37	15	28460793	28460793	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:28460793A>G	uc001zbj.3	-	38	6290	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2062					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCAGTGAAGGGTGCGTGC	0.607												
FRMD5	84978	broad.mit.edu	37	15	44181021	44181021	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:44181021C>T	uc001ztl.3	-	8	955	c.778G>A	c.(778-780)Gta>Ata	p.V260I	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.V26I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	260	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTCTGACTTACGTATAAATAG	0.498												
SLTM	79811	broad.mit.edu	37	15	59186379	59186379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59186379G>A	uc002afp.3	-	10	1479	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	SLTM_uc002afn.3_Missense_Mutation_p.P33L|SLTM_uc002afo.3_Missense_Mutation_p.P446L|SLTM_uc002afq.3_Missense_Mutation_p.P33L|SLTM_uc010bgd.3_Missense_Mutation_p.P33L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	464					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTTAGAGGGATCACCTTT	0.318												
GCNT3	9245	broad.mit.edu	37	15	59911701	59911701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59911701C>T	uc002age.3	+	2	1713	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GCNT3_uc002agd.3_Nonsense_Mutation_p.Q422*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q422*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	422					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATGCTCTTCAGTGCTTAGA	0.458												
RASGRF1	5923	broad.mit.edu	37	15	79320175	79320175	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:79320175G>A	uc002beq.3	-	8	1664	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	RASGRF1_uc002bep.3_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.4_Missense_Mutation_p.T430M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	430					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGTTCTCCGTCTCACTTAC	0.547												
RPL3L	6123	broad.mit.edu	37	16	2002950	2002950	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:2002950C>T	uc002cnh.3	-	2	337	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGAGACCTCGAGGGGTGGC	0.607												
ATF7IP2	80063	broad.mit.edu	37	16	10524503	10524503	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:10524503G>A	uc002czw.3	+	1	185	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGAAGTAAACGGAAGATATTA	0.348												
ABCC1	4363	broad.mit.edu	37	16	16218658	16218658	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:16218658G>A	uc010bvi.3	+	24	3778	c.3603G>A	c.(3601-3603)gtG>gtA	p.V1201V	ABCC1_uc010bvj.3_Silent_p.V1142V|ABCC1_uc010bvk.3_Silent_p.V1145V|ABCC1_uc010bvl.3_Silent_p.V1201V|ABCC1_uc010bvm.3_Silent_p.V1086V|ABCC1_uc002del.4_Silent_p.V1095V|ABCC1_uc021tds.1_Intron|ABCC1_uc021tdt.1_Intron	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCTGGCCGTGCGGCTGGAGT	0.592												
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:24921737_24921739delCAG	uc002dmu.3	+	14	1992_1994	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_uc002dms.3_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.2_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.3_In_Frame_Del_p.S436del|SLC5A11_uc010vce.2_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.3_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.3_In_Frame_Del_p.S215del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	592					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542												
CLEC3A	10143	broad.mit.edu	37	16	78064579	78064579	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:78064579C>T	uc002ffh.4	+	2	516	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CLEC3A_uc021tlr.1_Silent_p.N93N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	145	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTGACGTCAACGGAATCGCTA	0.527												
MYH1	4619	broad.mit.edu	37	17	10415407	10415407	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:10415407C>A	uc002gmo.3	-	12	1344	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	417	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTTTGACCTTTGGTGAC	0.463												
MYO19	80179	broad.mit.edu	37	17	34864958	34864958	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:34864958C>T	uc010wcy.2	-	14	2166	c.1174G>A	c.(1174-1176)Gta>Ata	p.V392I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.V392I|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	392	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.V392V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCACTGATACCAGCCAGTCA	0.537												
MPP3	4356	broad.mit.edu	37	17	41898381	41898381	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:41898381C>T	uc002ieh.3	-	8	1066	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MPP3_uc002iei.4_Missense_Mutation_p.A244T|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Missense_Mutation_p.A244T|MPP3_uc010wik.2_Missense_Mutation_p.A269T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	244	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAAGGGATGGCCCGGTCCTCC	0.677												
SPIRE1	56907	broad.mit.edu	37	18	12496095	12496095	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr18:12496095C>A	uc002kre.3	-	6	1026	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.2_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.2_Missense_Mutation_p.G327C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	327						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGAATATCACCATTCACCTAA	0.358												
ILF3	3609	broad.mit.edu	37	19	10798360	10798360	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:10798360G>A	uc002mpn.3	+	17	2715	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	ILF3_uc002mpo.3_Missense_Mutation_p.D804N|ILF3_uc002mpq.3_Silent_p.P102P	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	800	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCGGATCCGACTACAACTA	0.617												
LDLR	3949	broad.mit.edu	37	19	11233883	11233883	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:11233883C>A	uc002mqk.4	+	14	2361	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	LDLR_uc010xlk.2_Missense_Mutation_p.S725Y|LDLR_uc010xll.2_Missense_Mutation_p.S684Y|LDLR_uc021upc.1_Missense_Mutation_p.S604Y|LDLR_uc010xln.2_Missense_Mutation_p.S547Y|LDLR_uc010xlo.2_Missense_Mutation_p.S557Y|LDLR_uc010xlm.2_Missense_Mutation_p.S578Y|LDLR_uc021upd.1_Missense_Mutation_p.S462Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	725	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAGGAGACATCCACCGTCAGG	0.607												
FBL	2091	broad.mit.edu	37	19	40328442	40328442	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:40328442G>A	uc002omn.3	-	5	705	c.591C>T	c.(589-591)ggC>ggT	p.G197G	FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	197					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGAGGTCACGGCCAGAGCGGT	0.473												
ZNF180	7733	broad.mit.edu	37	19	44981674	44981674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:44981674G>A	uc002ozf.4	-	4	1306	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q317*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCATGTTTTGAGTAAGGGAG	0.378												
FPR3	2359	broad.mit.edu	37	19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:52327921G>A	uc002pxt.1	+	1	1104	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_uc021uyq.1_Missense_Mutation_p.R307H	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473												
DYNC2LI1	51626	broad.mit.edu	37	2	44023908	44023908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:44023908G>A	uc002rtl.3	+	7	731	c.631G>A	c.(631-633)Gca>Aca	p.A211T	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.A210T|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.A84T|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.A84T	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	210						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGATTTGTTGCACATTATTA	0.343												
ZRANB3	84083	broad.mit.edu	37	2	135960424	135960424	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:135960424A>G	uc002tum.3	-	19	3236	c.3119T>C	c.(3118-3120)cTc>cCc	p.L1040P	ZRANB3_uc002tuk.3_Missense_Mutation_p.L583P|ZRANB3_uc002tul.3_Missense_Mutation_p.L1038P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1040						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGCAGAGAGTCTGCAG	0.478												
MMP24	10893	broad.mit.edu	37	20	33851598	33851598	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr20:33851598C>T	uc002xbu.2	+	4	825	c.822C>T	c.(820-822)aaC>aaT	p.N274N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	274					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCACAGGGAACGACCTCTTCC	0.627												
NUP210	23225	broad.mit.edu	37	3	13379344	13379344	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:13379344C>T	uc003bxv.1	-	25	3628	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1182					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACCTGGGTGCCCGTCCTCAT	0.627												
XCR1	2829	broad.mit.edu	37	3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	rs140218706		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:46063343C>T	uc003cpe.3	-	2	321	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.A33T|XCR1_uc021wwx.1_Missense_Mutation_p.A33T	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	33					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567												
CP	1356	broad.mit.edu	37	3	148895735	148895735	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:148895735T>G	uc003ewy.4	-	16	3163	c.2910A>C	c.(2908-2910)caA>caC	p.Q970H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.Q122H|CP_uc003ewx.4_Missense_Mutation_p.Q751H|CP_uc003ewz.3_Missense_Mutation_p.Q970H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	970	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGTGAGGCCTTGTAGGTTTC	0.378												
MECOM	2122	broad.mit.edu	37	3	169099085	169099085	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:169099085C>A	uc011bpj.1	-	1	668	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	89							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTCCTGCCCCAGGCATATTT	0.473												
PIK3CA	5290	broad.mit.edu	37	3	178916641	178916661	+	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	uc003fjk.3	+	1	185_205	c.28_48delCTGTGGGGCATCCACTTGATG	c.(28-48)ctgtggggcatccacttgatgdel	p.LWGIHLM10del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	10					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G12D(4)|p.W11L(3)|p.I13_R19del(2)|p.E9_R19del(2)|p.L15_V22>PM(2)|p.L10_M16del(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	0.394		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
LIMCH1	22998	broad.mit.edu	37	4	41652554	41652554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:41652554G>A	uc003gvz.4	+	17	3382	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	LIMCH1_uc003gwe.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E592K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E445K|LIMCH1_uc011byu.2_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E438K|LIMCH1_uc011byv.2_Missense_Mutation_p.E355K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	604					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTCCACTGGAGCTGAAACA	0.527												
NPY2R	4887	broad.mit.edu	37	4	156135822	156135822	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:156135822G>C	uc003ioq.3	+	1	1220	c.731G>C	c.(730-732)aGt>aCt	p.S244T	NPY2R_uc003ior.3_Missense_Mutation_p.S244T|NPY2R_uc021xtm.1_Missense_Mutation_p.S244T	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	244					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CGCATTTGGAGTAAATTGAAG	0.433												
FTMT	94033	broad.mit.edu	37	5	121187974	121187974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:121187974G>A	uc003kss.3	+	0	325	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	106	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592												
FCHSD1	89848	broad.mit.edu	37	5	141029038	141029038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:141029038C>T	uc003llk.3	-	4	350	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	100									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGAGTCGGGTTTGGCC	0.637												
WBSCR17	64409	broad.mit.edu	37	7	71175882	71175882	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:71175882G>C	uc003tvy.3	+	9	1637	c.1637G>C	c.(1636-1638)aGc>aCc	p.S546T	WBSCR17_uc003tvz.3_Missense_Mutation_p.S245T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	546	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTCAAGAGCAGCCTGTAC	0.612												
PCLO	27445	broad.mit.edu	37	7	82595090	82595090	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:82595090T>A	uc003uhx.2	-	3	4303	c.4014A>T	c.(4012-4014)aaA>aaT	p.K1338N	PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTTACTGTTTTTTCTTTCC	0.338												
DYNC1I1	1780	broad.mit.edu	37	7	95457400	95457400	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:95457400C>T	uc003uoc.4	+	4	674	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	DYNC1I1_uc003uod.4_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Intron|DYNC1I1_uc010lfl.3_Missense_Mutation_p.L122F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	133					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCCTCAGTGCTCCAGCTGCA	0.443												
AP3M2	10947	broad.mit.edu	37	8	42024775	42024776	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:42024775_42024776insGT	uc003xop.3	+	7	1188_1189	c.897_898insGT	c.(895-900)cagacgfs	p.Q299fs	AP3M2_uc003xoo.3_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	299	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GACCCAAGCAGACGATGGGGAA	0.515												
ST18	9705	broad.mit.edu	37	8	53073986	53073986	+	Missense_Mutation	SNP	G	G	A	rs2303460	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:53073986G>A	uc003xqz.2	-	8	1699	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	515			R -> C (in dbSNP:rs2303460).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGAGAGGGCGTTTACCGAAA	0.433												
DCAF13	25879	broad.mit.edu	37	8	104427337	104427338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:104427337_104427338insG	uc003yln.3	+	0	396_397	c.119_120insG	c.(118-120)gagfs	p.E40fs	SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTAGTACTGAGGGGGCAAGAA	0.663												
ASAP1	50807	broad.mit.edu	37	8	131124496	131124496	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:131124496C>G	uc003yta.2	-	23	2473	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	ASAP1_uc003ysz.2_Missense_Mutation_p.D560H|ASAP1_uc011liw.2_Missense_Mutation_p.D742H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	749					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGCTTGTCCTGGGGGGAG	0.542												
FAM75C1	441452	broad.mit.edu	37	9	90537612	90537612	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:90537612C>T	uc010mqi.3	+	3	2819	c.2790C>T	c.(2788-2790)gcC>gcT	p.A930A	FAM75C1_uc004apq.4_Silent_p.A913A|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCATGTCAGCCAGAAGGAGTA	0.547												
ZNF618	114991	broad.mit.edu	37	9	116750662	116750662	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:116750662G>A	uc004bid.3	+	2	238	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.3_Missense_Mutation_p.E47K|ZNF618_uc011lxi.2_Missense_Mutation_p.E47K|ZNF618_uc011lxj.2_Missense_Mutation_p.E47K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGTGCCAGCCGAGGCCTCGCT	0.602												
OR5C1	392391	broad.mit.edu	37	9	125551633	125551633	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:125551633C>T	uc011lzd.2	+	0	422	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACAGCTATGTCGCAGCGTCTA	0.572												
BCOR	54880	broad.mit.edu	37	X	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:39932171G>A	uc004den.4	-	3	2720	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_uc004dep.4_Nonsense_Mutation_p.R810*|BCOR_uc004deo.4_Nonsense_Mutation_p.R810*|BCOR_uc004dem.4_Nonsense_Mutation_p.R810*|BCOR_uc004deq.4_Nonsense_Mutation_p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	810					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
OTUD5	55593	broad.mit.edu	37	X	48814319	48814319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:48814319C>T	uc004dlu.3	-	0	575	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	OTUD5_uc004dlt.4_Missense_Mutation_p.G172S|OTUD5_uc004dlv.3_Missense_Mutation_p.G172S|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	172	Gly-rich.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TAGCCTGCGCCGACCTCCTCA	0.687												
MED12	9968	broad.mit.edu	37	X	70349202	70349202	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:70349202G>A	uc004dyy.3	+	25	3813	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.3_Missense_Mutation_p.R1205H|MED12_uc004dza.3_Missense_Mutation_p.R1052H|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1205					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTGCGACCGCCACCTGCTG	0.582			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)