Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CATSPER1	117144	broad.mit.edu	37	11	65790439	65790439	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:65790439C>T	ENST00000312106.5	-	2	1447	c.1310G>A	c.(1309-1311)cGg>cAg	p.R437Q		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	437					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GATCATTTCCCGGAAGCCCTG	0.552000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	79					0	0	0.076483	0	0
UGGT1	56886	broad.mit.edu	37	2	128873862	128873862	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:128873862A>T	ENST00000375990.3	+	8	1148	c.745A>T	c.(745-747)Att>Ttt	p.I249F	UGGT1_ENST00000259253.6_Missense_Mutation_p.I273F			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	273					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACCACAGTGATTGGTGAAAA	0.328000													4	70					0	0	0.009096	0	0
HSPG2	3339	broad.mit.edu	37	1	22173050	22173050	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:22173050G>C	ENST00000374695.3	-	63	8286	c.8207C>G	c.(8206-8208)tCa>tGa	p.S2736*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2736	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCACGTGTGAGGAGGATGA	0.622000													4	98					0	0	0.009096	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	36					0	0	0.115264	0	0
RELN	5649	broad.mit.edu	37	7	103137192	103137192	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:103137192C>T	ENST00000424685.2	-	56	9133	c.8974G>A	c.(8974-8976)Gag>Aag	p.E2992K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.E2992K|RELN_ENST00000428762.1_Missense_Mutation_p.E2992K			P78509	RELN_HUMAN	reelin	2992					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATCCATCTCATGGAGCAAA	0.408000													8	49					0	0	0.069234	0	0
CEP72	55722	broad.mit.edu	37	5	634005	634005	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:634005C>T	ENST00000264935.5	+	5	724	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	212					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGGCAGGCCTCCCGGGAGCAC	0.657000													6	184					0	0	0.021553	0	0
EP400	57634	broad.mit.edu	37	12	132547172	132547172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:132547172C>T	ENST00000333577.4	+	48	8477	c.8368C>T	c.(8368-8370)Cag>Tag	p.Q2790*	EP400_ENST00000330386.6_Nonsense_Mutation_p.Q2673*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q2753*|EP400_ENST00000332482.4_Nonsense_Mutation_p.Q2717*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q2754*			Q96L91	EP400_HUMAN	E1A binding protein p400	2790					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACGACCTCTCAGGTGCAAGT	0.607000													14	60					0	0	0.119110	0	0
RALGAPB	57148	broad.mit.edu	37	20	37195789	37195789	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:37195789G>A	ENST00000262879.6	+	26	4152	c.3868G>A	c.(3868-3870)Gat>Aat	p.D1290N	RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1287N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1069N|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1290N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1290	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCAAATATGGATCTTATGCC	0.378000													32	50					0	0	0.050027	0	0
RIF1	55183	broad.mit.edu	37	2	152331516	152331516	+	Silent	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:152331516T>C	ENST00000243326.4	+	35	7833	c.7350T>C	c.(7348-7350)tgT>tgC	p.C2450C	RIF1_ENST00000444746.2_Silent_p.C2450C|RIF1_ENST00000428287.2_Silent_p.C2424C|RIF1_ENST00000453091.2_Silent_p.C2424C|RIF1_ENST00000430328.2_Silent_p.C2424C			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2450	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACTAAGTTGTATGGCAAACT	0.343000													19	22					0	0	0.049695	0	0
NPTXR	23467	broad.mit.edu	37	22	39219239	39219239	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr22:39219239T>A	ENST00000333039.2	-	4	1250	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	376	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CCAGCCATTGTCCTTCAGGCT	0.657000													9	42					0	0	0.047766	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477597	35477597	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:35477597A>G	ENST00000357182.4	-	8	1183	c.956T>C	c.(955-957)gTt>gCt	p.V319A	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.V319A|ZMYM6_ENST00000373340.2_Missense_Mutation_p.V319A	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	319					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ATGACATGAAACCTGGACACC	0.343000													11	52					0	0	0.069234	0	0
NBN	4683	broad.mit.edu	37	8	90983437	90983437	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:90983437G>A	ENST00000265433.3	-	6	820	c.666C>T	c.(664-666)ttC>ttT	p.F222F	NBN_ENST00000409330.1_Silent_p.F140F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	222					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTTCCCTTTGAAGATTTGTT	0.289000								Homologous recombination					5	25					0	0	0.014758	0	0
CROT	54677	broad.mit.edu	37	7	86991112	86991112	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:86991112C>G	ENST00000331536.3	+	6	676	c.491C>G	c.(490-492)tCt>tGt	p.S164C	CROT_ENST00000442291.1_Missense_Mutation_p.S164C|CROT_ENST00000419147.2_Missense_Mutation_p.S192C	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	164					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATGCTATTTTCTACCTGCAAG	0.323000													5	90					0	0	0.014758	0	0
SORCS3	22986	broad.mit.edu	37	10	106802863	106802863	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:106802863C>G	ENST00000369701.3	+	5	1232	c.1005C>G	c.(1003-1005)cgC>cgG	p.R335R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	335						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGCATGAACGCATCACACCCA	0.453000													73	116					0	0	0.139131	0	0
C7orf26	79034	broad.mit.edu	37	7	6641768	6641768	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:6641768A>G	ENST00000344417.5	+	5	1412	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	C7orf26_ENST00000359073.5_Missense_Mutation_p.N285S|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	382										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTGCCCCATAATAAGTAAGTA	0.512000											OREG0017863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	112					0	0	0.009096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415472	105415472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr14:105415472C>A	ENST00000333244.5	-	7	6435	c.6316G>T	c.(6316-6318)Gaa>Taa	p.E2106*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2106						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTCTCATTTCCACCTTGGGG	0.592000													122	48					1.64933e-60	2.05944e-60	0.139131	1	0
REPS1	85021	broad.mit.edu	37	6	139251135	139251135	+	Silent	SNP	A	A	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:139251135A>C	ENST00000450536.2	-	9	1810	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	REPS1_ENST00000258062.5_Silent_p.P412P|REPS1_ENST00000409812.2_Silent_p.P412P|REPS1_ENST00000367663.4_Silent_p.P412P|REPS1_ENST00000415951.2_Silent_p.P412P			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	412						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTCAGCTCAGGCCATGTCT	0.448000													4	60					0	0	0.009096	0	0
NUDCD2	134492	broad.mit.edu	37	5	162883952	162883952	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:162883952C>G	ENST00000302764.4	-	3	462	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	NUDCD2_ENST00000517501.1_Missense_Mutation_p.E100Q	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	125						intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TGGAATCTCTCTAATGTAAGC	0.323000													6	37					0	0	0.029380	0	0
ZNF319	57567	broad.mit.edu	37	16	58031380	58031380	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:58031380C>T	ENST00000299237.2	-	2	1412	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGTCTTCTCGCAGACTGCG	0.607000													19	64					0	0	0.043863	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885798	180885798	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:180885798C>A	ENST00000367588.4	+	2	614	c.559C>A	c.(559-561)Cct>Act	p.P187T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	187										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGCCCGTGGCCTCCAGAAGC	0.647000													42	117					5.20837e-25	6.29913e-25	0.104719	1	0
APOL5	80831	broad.mit.edu	37	22	36123141	36123141	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr22:36123141G>A	ENST00000249044.2	+	3	1026	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	342					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGCTGGACCGGCTCACCCAGC	0.627000													27	33					0	0	0.091800	0	0
DVL3	1857	broad.mit.edu	37	3	183885740	183885740	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:183885740G>T	ENST00000313143.3	+	13	1633	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R445M	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	462	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ACGGACCGGAGGGAGGCCCGC	0.572000													21	57					4.35082e-09	4.87883e-09	0.055883	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409829	56409829	+	Silent	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:56409829T>A	ENST00000544374.1	-	1	118	c.90A>T	c.(88-90)ctA>ctT	p.L30L	OR5AP2_ENST00000302981.1_Silent_p.L29L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGACTCCTTGTAGATCTGGAT	0.398000													8	41					0	0	0.038147	0	0
SRCAP	10847	broad.mit.edu	37	16	30749478	30749478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:30749478C>A	ENST00000262518.4	+	34	8502	c.8117C>A	c.(8116-8118)tCa>tAa	p.S2706*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.S2548*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.S2644*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2706	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCTCATCTTCAGCCACTTCC	0.602000													12	117					1.08611e-07	1.19472e-07	0.080935	1	0
ZBTB40	9923	broad.mit.edu	37	1	22818015	22818015	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:22818015C>T	ENST00000404138.1	+	4	1331	c.820C>T	c.(820-822)Cca>Tca	p.P274S	ZBTB40_ENST00000375647.4_Missense_Mutation_p.P274S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P274S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	274					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AATTAAAGGTCCACAGAAGGA	0.383000													5	55					0	0	0.021553	0	0
KCNB1	3745	broad.mit.edu	37	20	47990416	47990416	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:47990416C>G	ENST00000371741.4	-	2	1847	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	561					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTCCATTTCAAGTTCTTCC	0.493000													9	125					0	0	0.058154	0	0
CCER1	196477	broad.mit.edu	37	12	91347524	91347524	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:91347524C>G	ENST00000358859.2	-	1	1429	c.996G>C	c.(994-996)gaG>gaC	p.E332D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		ccagctcctcctctccctcct	0.537000													22	30					0	0	0.062417	0	0
CENPF	1063	broad.mit.edu	37	1	214818019	214818019	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:214818019C>G	ENST00000366955.3	+	13	5274	c.5106C>G	c.(5104-5106)ctC>ctG	p.L1702L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1798					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCAGGACCTCAATCTAGACA	0.438000													4	82					0	0	0.009096	0	0
CDH8	1006	broad.mit.edu	37	16	61851435	61851435	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:61851435C>A	ENST00000577390.1	-	7	2179	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L	CDH8_ENST00000584337.1_Missense_Mutation_p.V409L|CDH8_ENST00000577730.1_Missense_Mutation_p.V409L|CDH8_ENST00000299345.6_Missense_Mutation_p.V409L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	409	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGCCCAATCACGGAGTTTAGA	0.438000													9	46					0.0581538	0.0597045	0.058154	1	0
B4GALT2	8704	broad.mit.edu	37	1	44447061	44447061	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:44447061T>C	ENST00000356836.6	+	2	1019	c.229T>C	c.(229-231)Tcc>Ccc	p.S77P	B4GALT2_ENST00000309519.7_Missense_Mutation_p.S106P|B4GALT2_ENST00000372324.1_Missense_Mutation_p.S77P|B4GALT2_ENST00000434555.2_Silent_p.A25A	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	77					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CGCCTCTAGCTCCGGGCTCCC	0.701000													4	70					0	0	0.014758	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97388160	97388160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:97388160T>A	ENST00000371224.2	-	8	1035	c.898A>T	c.(898-900)Aag>Tag	p.K300*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.K298*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	300	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	ACTCTAGACTTGGTTCCAAAT	0.408000													48	86					0	0	0.139131	0	0
RGPD8	727851	broad.mit.edu	37	2	113190969	113190969	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:113190969G>A	ENST00000302558.3	-	1	253	c.62C>T	c.(61-63)tCg>tTg	p.S21L	RGPD8_ENST00000330575.5_Missense_Mutation_p.S21L|RGPD8_ENST00000409750.1_Intron	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CTGTCGAGGCGACGGGGTGAG	0.751000													12	46					0	0	0.119110	0	0
ZFP36	7538	broad.mit.edu	37	19	39898488	39898488	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:39898488G>T	ENST00000597629.1	+	2	222	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	ZFP36_ENST00000248673.3_Missense_Mutation_p.D44Y|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	44					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCCCCTCCGACTCCAGCCC	0.726000													26	54					1.42536e-11	1.66292e-11	0.099896	1	0
PDE7A	5150	broad.mit.edu	37	8	66753652	66753652	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:66753652G>C	ENST00000401827.3	-	1	535	c.92C>G	c.(91-93)tCc>tGc	p.S31C	PDE7A_ENST00000396642.3_Missense_Mutation_p.S31C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	31	Poly-Ser.					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	AGCGGAGCTGGAGCTGAAGCT	0.632000													7	35					0	0	0.029380	0	0
TRIM63	84676	broad.mit.edu	37	1	26387753	26387753	+	Silent	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:26387753G>C	ENST00000374272.3	-	3	543	c.405C>G	c.(403-405)ctC>ctG	p.L135L	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	135	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCACACGTGAGACAGTAGA	0.552000													6	72					0	0	0.038147	0	0
HIF1AN	55662	broad.mit.edu	37	10	102300398	102300398	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:102300398C>A	ENST00000299163.5	+	3	536	c.436C>A	c.(436-438)Ctg>Atg	p.L146M	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	146	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TAGGTTGTATCTGCAGCAAAC	0.463000													7	184					1.06961e-07	1.1822e-07	0.038147	1	0
APBA2	321	broad.mit.edu	37	15	29346847	29346847	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:29346847C>A	ENST00000558402.1	+	5	1359	c.760C>A	c.(760-762)Cct>Act	p.P254T	APBA2_ENST00000558330.1_Missense_Mutation_p.P254T|APBA2_ENST00000558259.1_Missense_Mutation_p.P254T|APBA2_ENST00000411764.1_Missense_Mutation_p.P254T|APBA2_ENST00000561069.1_Missense_Mutation_p.P254T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	254	STXBP1-binding.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGCATGGGCCTGAGCCAGG	0.637000													30	58					4.34311e-12	5.09268e-12	0.059317	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948362	119948362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:119948362G>T	ENST00000307142.4	+	3	1034	c.838G>T	c.(838-840)Gga>Tga	p.G280*	SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.G280*|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.G280*	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	280						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGATGCGGGACTGCCCCG	0.537000													22	26					5.26018e-13	6.1995e-13	0.062417	1	0
KEAP1	9817	broad.mit.edu	37	19	10600365	10600365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:10600365C>A	ENST00000171111.5	-	4	2037	c.1490G>T	c.(1489-1491)tGg>tTg	p.W497L	KEAP1_ENST00000393623.2_Missense_Mutation_p.W497L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GATCATTCGCCACTCGTTCCT	0.592000													44	26					1.19451e-25	1.45228e-25	0.139131	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819635	159819635	+	RNA	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:159819635C>A	ENST00000497452.1	-	0	517																											ACAGTCAGTGCGAATTTGAAA	0.478000													34	126					3.62531e-18	4.3391e-18	0.069456	1	0
ACPT	93650	broad.mit.edu	37	19	51298186	51298186	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:51298186C>G	ENST00000270593.1	+	10	1130	c.1130C>G	c.(1129-1131)tCc>tGc	p.S377C	ACPT_ENST00000270594.3_Missense_Mutation_p.S284C	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	377						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATGGGGTCTCCTGCCATGGC	0.706000													8	115					0	0	0.058154	0	0
TRIM27	5987	broad.mit.edu	37	6	28891242	28891242	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:28891242G>C	ENST00000377199.3	-	1	524	c.168C>G	c.(166-168)tgC>tgG	p.C56W	TRIM27_ENST00000377194.3_Missense_Mutation_p.C56W	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	56					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AGGTCTCCCGGCACTGCGGGC	0.682000			T	RET	papillary thyroid								6	38					0	0	0.029380	0	0
SON	6651	broad.mit.edu	37	21	34922804	34922804	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr21:34922804C>T	ENST00000356577.4	+	3	1742	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P423S|SON_ENST00000300278.4_Missense_Mutation_p.P423S|SON_ENST00000290239.6_Missense_Mutation_p.P423S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	423					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTTTCTACCCCAGTGCCTGA	0.652000													16	72					0	0	0.132662	0	0
DPYSL2	1808	broad.mit.edu	37	8	26492307	26492307	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:26492307A>T	ENST00000311151.5	+	8	1114	c.702A>T	c.(700-702)gaA>gaT	p.E234D	DPYSL2_ENST00000523027.1_Missense_Mutation_p.E198D|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E198D|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	234					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCGAGGCCGAAGCCGTGAATC	0.572000													18	106					0	0	0.062417	0	0
VPS13C	54832	broad.mit.edu	37	15	62211643	62211643	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:62211643G>C	ENST00000261517.5	-	58	7556	c.7483C>G	c.(7483-7485)Cat>Gat	p.H2495D	VPS13C_ENST00000249837.3_Missense_Mutation_p.H2452D|VPS13C_ENST00000395898.3_Missense_Mutation_p.H2452D|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2495D	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2495					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTATATCCATGAGGTACTAAG	0.378000													23	112					0	0	0.076483	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	14					0	0	0.115264	0	0
COPG1	22820	broad.mit.edu	37	3	128979633	128979633	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:128979633A>G	ENST00000314797.6	+	12	1215	c.1111A>G	c.(1111-1113)Atc>Gtc	p.I371V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	371					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CATGTCAGAAATCTCGGATGA	0.602000													5	55					0	0	0.014758	0	0
TAF1L	138474	broad.mit.edu	37	9	32634735	32634735	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr9:32634735C>G	ENST00000242310.4	-	1	932	c.843G>C	c.(841-843)aaG>aaC	p.K281N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	281					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTTCTTCCTCTTTCTCCGAG	0.463000													4	95					0	0	0.009096	0	0
CHTF18	63922	broad.mit.edu	37	16	840384	840384	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:840384C>G	ENST00000317063.6	+	7	1328	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	CHTF18_ENST00000262315.9_Nonsense_Mutation_p.S246*|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.S274*			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	246					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAAGCTTTCAGACACCCTG	0.642000													3	25					0	0	0.115264	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683003	71683003	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:71683003G>A	ENST00000393524.2	-	17	4294	c.3561C>T	c.(3559-3561)ctC>ctT	p.L1187L	PHLPP2_ENST00000356272.3_Silent_p.L1254L|PHLPP2_ENST00000568954.1_Silent_p.L1254L|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Silent_p.L1289L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1254						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCACTTCAATGAGGTTCAGGC	0.527000													50	73					0	0	0.139131	0	0
COBL	23242	broad.mit.edu	37	7	51203960	51203960	+	Silent	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:51203960C>A	ENST00000395542.2	-	7	1111	c.927G>T	c.(925-927)tcG>tcT	p.S309S	COBL_ENST00000395540.2_Silent_p.S284S|COBL_ENST00000441453.1_Silent_p.S284S|COBL_ENST00000265136.7_Silent_p.S284S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	284	Pro-rich.							p.S284S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCTGCCCAGCGAGAGGGATG	0.577000													21	28					0.0105039	0.0108321	0.055883	1	0
CKAP4	10970	broad.mit.edu	37	12	106632898	106632898	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:106632898C>T	ENST00000378026.4	-	2	1849	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	571						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCAGATTGTTCTCGTTGGTTT	0.448000													7	184					0	0	0.029380	0	0
DPP10	57628	broad.mit.edu	37	2	116594317	116594317	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:116594317C>A	ENST00000410059.1	+	24	2657	c.2177C>A	c.(2176-2178)gCt>gAt	p.A726D	DPP10_ENST00000393147.2_Missense_Mutation_p.A730D|DPP10_ENST00000310323.8_Missense_Mutation_p.A719D|DPP10_ENST00000409163.1_Missense_Mutation_p.A676D	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	726					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATGGAACTGCTGACAGTAAG	0.358000													10	113					1.76689e-08	1.97175e-08	0.058154	1	0
AHNAK	79026	broad.mit.edu	37	11	62286885	62286885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:62286885C>A	ENST00000378024.4	-	5	15278	c.15004G>T	c.(15004-15006)Gag>Tag	p.E5002*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5002					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTCTGCCTCAGGAACAGTG	0.413000													25	97					9.90768e-06	1.05957e-05	0.099896	1	0
HS3ST1	9957	broad.mit.edu	37	4	11400725	11400725	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:11400725C>G	ENST00000002596.5	-	2	2079	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	302						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTCAAATGTTCTGCCAACAAG	0.418000													18	72					0	0	0.043863	0	0
OBSCN	84033	broad.mit.edu	37	1	228466505	228466505	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:228466505C>T	ENST00000570156.2	+	31	8336	c.8262C>T	c.(8260-8262)ggC>ggT	p.G2754G	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.G1172G|OBSCN_ENST00000284548.11_Silent_p.G2325G|OBSCN_ENST00000422127.1_Silent_p.G2325G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1755	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTTCAAGGGCAGTCAGGAGC	0.642000													17	68					0	0	0.033300	0	0
WNK1	65125	broad.mit.edu	37	12	968524	968524	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:968524G>T	ENST00000537687.1	+	6	2157	c.1514G>T	c.(1513-1515)cGt>cTt	p.R505L	WNK1_ENST00000340908.4_Missense_Mutation_p.R98L|WNK1_ENST00000530271.2_Missense_Mutation_p.R505L|WNK1_ENST00000535572.1_Missense_Mutation_p.R505L|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.R505L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	505					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.R505H(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTATGGCTACGTATTGAAGAT	0.348000													14	83					1.3612e-06	1.47623e-06	0.132662	1	0
LAMP1	3916	broad.mit.edu	37	13	113975949	113975949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr13:113975949G>T	ENST00000332556.4	+	8	1215	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.E288*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	341	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTGCAACGCGGAGGAGCACGT	0.557000													18	95					2.35188e-11	2.73007e-11	0.038395	1	0
FAT3	120114	broad.mit.edu	37	11	92087428	92087428	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:92087428C>G	ENST00000298047.6	+	1	2167	c.2150C>G	c.(2149-2151)tCa>tGa	p.S717*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.S567*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S717*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S717*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	717					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTTTTATTCAATTAATAGA	0.398000										TCGA Ovarian(4;0.039)			8	162					0	0	0.047766	0	0
CENPL	91687	broad.mit.edu	37	1	173772523	173772523	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:173772523G>C	ENST00000356198.2	-	6	964	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	CENPL_ENST00000345664.6_Missense_Mutation_p.L181V|CENPL_ENST00000367710.3_Missense_Mutation_p.L181V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	181					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AATAAGGGCAGACAGGTGAAA	0.423000													5	177					0	0	0.014758	0	0
WISP1	8840	broad.mit.edu	37	8	134233066	134233066	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:134233066C>A	ENST00000250160.6	+	3	698	c.592C>A	c.(592-594)Cgt>Agt	p.R198S	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	198					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACCGCACCCCGTGACACAGG	0.642000													17	40					1.99824e-07	2.18764e-07	0.033300	1	0
TNR	7143	broad.mit.edu	37	1	175334287	175334287	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:175334287C>T	ENST00000367674.1	-	12	3154	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	TNR_ENST00000263525.2_Missense_Mutation_p.E816K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	816	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E816Q(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCATCATCTCTTCCTCCTCA	0.532000													25	91					0	0	0.099896	0	0
PRSS8	5652	broad.mit.edu	37	16	31144086	31144086	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:31144086G>C	ENST00000317508.6	-	4	718	c.455C>G	c.(454-456)cCc>cGc	p.P152R	PRSS8_ENST00000568261.1_Missense_Mutation_p.P98R	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	152	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GAGGCAGATGGGCCGGATGTA	0.652000													23	223					0	0	0.083992	0	0
KCNT1	57582	broad.mit.edu	37	9	138683691	138683691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr9:138683691C>A	ENST00000298480.5	+	31	3688	c.3614C>A	c.(3613-3615)cCt>cAt	p.P1205H	KCNT1_ENST00000488444.2_Missense_Mutation_p.P1184H|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1183H|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1160H|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1162H|KCNT1_ENST00000371757.2_Missense_Mutation_p.P1184H|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1170H|KCNT1_ENST00000263604.3_Missense_Mutation_p.P1179H			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1184						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCATCAACCCTCCGCCCGAC	0.642000													47	32					1.63038e-21	1.96155e-21	0.139131	1	0
AGAP6	414189	broad.mit.edu	37	10	51768776	51768776	+	Silent	SNP	G	G	T	rs77193201		TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:51768776G>T	ENST00000374056.4	+	7	1220	c.822G>T	c.(820-822)ctG>ctT	p.L274L	AGAP6_ENST00000412531.3_Silent_p.L297L			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	297					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GGAAATGGCTGAAGACATGGA	0.438000													12	481					1.36491e-13	1.61689e-13	0.105934	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885129	88885129	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:88885129G>A	ENST00000319675.3	-	1	1167	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	357										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCTCCGAGGCGGGGTATGGGG	0.617000													36	50					0	0	0.054565	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	16					0	0	0.009096	0	0
ZNF318	24149	broad.mit.edu	37	6	43308072	43308072	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:43308072C>G	ENST00000361428.2	-	10	3741	c.3664G>C	c.(3664-3666)Gaa>Caa	p.E1222Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1222	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCTTTACTTCTTTCACAGCC	0.448000													37	239					0	0	0.074837	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968718	99968718	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:99968718G>C	ENST00000298999.3	+	5	1150	c.847G>C	c.(847-849)Gat>Cat	p.D283H	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D283H|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AACTTGCGTAGATTTTGAAGT	0.423000													16	67					0	0	0.132662	0	0
HMG20A	10363	broad.mit.edu	37	15	77769946	77769946	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:77769946C>T	ENST00000381714.3	+	8	1093	c.665C>T	c.(664-666)aCa>aTa	p.T222I	HMG20A_ENST00000336216.4_Missense_Mutation_p.T222I	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	222					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCTATATTTACAGAGGAATTC	0.333000													9	24					0	0	0.058154	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77329395	77329395	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:77329395G>A	ENST00000558012.1	+	15	1618	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E357K|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E358K|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E374K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	377	SH3.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GAACCCAGATGAGCTGGACCT	0.637000													4	70					0	0	0.021553	0	0
TLR4	7099	broad.mit.edu	37	9	120476775	120476775	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr9:120476775G>A	ENST00000355622.6	+	3	2470	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S750N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	790	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CGCCTTCTCAGCAGGAACACT	0.547000													5	86					0	0	0.014758	0	0
MOCS3	27304	broad.mit.edu	37	20	49576335	49576335	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:49576335C>T	ENST00000244051.1	+	1	973	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	319					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGTGGCTCCTCAGCCACTGAT	0.587000													18	102					0	0	0.043863	0	0
ALPK1	80216	broad.mit.edu	37	4	113352234	113352234	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:113352234C>T	ENST00000458497.1	+	11	1810	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	ALPK1_ENST00000504176.2_Missense_Mutation_p.H433Y|ALPK1_ENST00000177648.9_Missense_Mutation_p.H511Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	511							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAAAAGCCACATTGTCAAAG	0.403000													19	23					0	0	0.055883	0	0
FAM47C	442444	broad.mit.edu	37	X	37028517	37028517	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chrX:37028517C>G	ENST00000358047.3	+	1	2086	c.2034C>G	c.(2032-2034)ctC>ctG	p.L678L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	678										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCCATCTCTGCCCGGAGC	0.642000													8	44					0	0	0.047766	0	0
LINGO4	339398	broad.mit.edu	37	1	151773522	151773522	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:151773522C>T	ENST00000368820.3	-	2	2596	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	553						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGGGCAATCAGGCCAAAGC	0.562000													9	309					0	0	0.058154	0	0
TPD52	7163	broad.mit.edu	37	8	80976821	80976821	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:80976821C>T	ENST00000379096.5	-	2	141	c.27G>A	c.(25-27)ctG>ctA	p.L9L	TPD52_ENST00000537855.1_Silent_p.L49L|TPD52_ENST00000518937.1_Silent_p.L9L|TPD52_ENST00000520527.1_Silent_p.L49L|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000517427.1_Silent_p.L49L|TPD52_ENST00000448733.2_Silent_p.L49L|TPD52_ENST00000379097.3_Silent_p.L49L	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	49					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGTCTGTTCTCAGCAGACCTG	0.463000													17	90					0	0	0.043863	0	0
KEL	3792	broad.mit.edu	37	7	142641793	142641793	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:142641793G>A	ENST00000355265.2	-	12	1824	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	450					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCGAGTGATGAGGGCATCCC	0.612000													7	25					0	0	0.047766	0	0
KAT6A	7994	broad.mit.edu	37	8	41800300	41800300	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:41800300C>T	ENST00000485568.1	-	14	2858	c.2447G>A	c.(2446-2448)tGa>tAa	p.*816*	KAT6A_ENST00000396930.3_Intron|KAT6A_ENST00000406337.1_Intron|KAT6A_ENST00000265713.2_Intron			Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	0					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AGAGACTATTCATGCCCTTAC	0.358000													5	90					0	0	0.029380	0	0
POTEF	728378	broad.mit.edu	37	2	130831864	130831864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:130831864C>A	ENST00000357462.5	-	15	3274	c.3181G>T	c.(3181-3183)Gag>Tag	p.E1061*	POTEF_ENST00000409914.2_Nonsense_Mutation_p.E1061*			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1061	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCATCATACTCCTGCTTGCTG	0.537000													96	70					6.29576e-42	7.77712e-42	0.139131	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464745	5464745	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:5464745C>T	ENST00000296564.7	+	13	5520	c.5298C>T	c.(5296-5298)ctC>ctT	p.L1766L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1766										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCGGACCCTCAACATCCTCA	0.517000													5	32					0	0	0.014758	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770546	19770546	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr21:19770546G>A	ENST00000284885.3	-	2	279	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	82	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAAGAACTTTGAAATCCACTG	0.383000													23	20					0	0	0.069288	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304692	67304692	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:67304692G>A	ENST00000299798.11	+	16	2335	c.2270G>A	c.(2269-2271)tGt>tAt	p.C757Y		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	757					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCCCAACCTGTGCAGAAAAG	0.557000													13	15					0	0	0.105934	0	0
REXO2	25996	broad.mit.edu	37	11	114310214	114310214	+	Translation_Start_Site	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:114310214G>A	ENST00000265881.5	+	0	107				RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_De_novo_Start_InFrame|REXO2_ENST00000539275.1_De_novo_Start_InFrame|REXO2_ENST00000539754.1_De_novo_Start_InFrame	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2						nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GCCAGCGCCGGCTGCGAGACT	0.697000											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	19					0	0	0.115264	0	0
RARS2	57038	broad.mit.edu	37	6	88240532	88240532	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:88240532C>G	ENST00000369536.5	-	9	786	c.741G>C	c.(739-741)ttG>ttC	p.L247F		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	247					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTCAATGCTCAAGTCCCGAA	0.463000													13	52					0	0	0.093190	0	0
DLG5	9231	broad.mit.edu	37	10	79580869	79580869	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:79580869G>C	ENST00000372391.2	-	15	3378	c.3373C>G	c.(3373-3375)Cca>Gca	p.P1125A	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1125					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATCACTACTGGAGCAAGCTTC	0.597000													5	79					0	0	0.014758	0	0
TMF1	7110	broad.mit.edu	37	3	69097684	69097684	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:69097684C>G	ENST00000543976.1	-	2	418	c.172G>C	c.(172-174)Gat>Cat	p.D58H	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D58H|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	58					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTTGAAGTATCCCATCCTCCA	0.373000													4	94					0	0	0.009096	0	0
MTTP	4547	broad.mit.edu	37	4	100518350	100518350	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:100518350C>A	ENST00000457717.1	+	9	1292	c.1036C>A	c.(1036-1038)Caa>Aaa	p.Q346K	MTTP_ENST00000511045.1_Missense_Mutation_p.Q373K|MTTP_ENST00000265517.5_Missense_Mutation_p.Q346K|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	346	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAGATCCTTCAAATACTAAA	0.428000													8	68					0.000274275	0.000287989	0.047766	1	0
NLRP1	22861	broad.mit.edu	37	17	5436173	5436173	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:5436173C>T	ENST00000345221.3	-	11	3819	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K	NLRP1_ENST00000269280.4_Missense_Mutation_p.E1089K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E1059K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E1059K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E1089K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E1093K|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1089					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCAACTACCTCAGTAGCCACA	0.612000													9	45					0	0	0.047766	0	0
PRLHR	2834	broad.mit.edu	37	10	120354367	120354367	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:120354367G>A	ENST00000239032.2	-	2	528	c.390C>T	c.(388-390)ggC>ggT	p.G130G	PRLHR_ENST00000369169.1_Silent_p.G130G	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	130					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACAGGCCGCCGCCGAACACCC	0.657000													15	36					0	0	0.146539	0	0
CCL24	6369	broad.mit.edu	37	7	75441236	75441236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:75441236C>A	ENST00000416943.1	-	4	331	c.238G>T	c.(238-240)Gag>Tag	p.E80*	CCL24_ENST00000222902.2_Nonsense_Mutation_p.E80*	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	80					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						TGGACCCACTCCTGCTTGGGG	0.602000													34	45					1.30293e-26	1.60095e-26	0.059317	1	0
RBM17	84991	broad.mit.edu	37	10	6157223	6157223	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:6157223G>A	ENST00000446108.1	+	11	1695	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	RBM17_ENST00000379888.4_Missense_Mutation_p.E351K|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	351	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCTGATGATGAAGCAGTACG	0.338000													3	25					0	0	0.115264	0	0
NEDD4	4734	broad.mit.edu	37	15	56126273	56126273	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:56126273T>C	ENST00000508342.1	-	22	3949	c.3650A>G	c.(3649-3651)tAc>tGc	p.Y1217C	NEDD4_ENST00000506154.1_Missense_Mutation_p.Y1201C|NEDD4_ENST00000435532.3_Missense_Mutation_p.Y798C|NEDD4_ENST00000338963.2_Missense_Mutation_p.Y1145C			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1217	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATTTGCACTGTAGCCATTTTT	0.318000													35	64					0	0	0.064281	0	0
DPPA2	151871	broad.mit.edu	37	3	109031471	109031471	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:109031471G>A	ENST00000478945.1	-	3	348	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	34						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATATTTGCGTCATCTTTAA	0.413000													5	89					0	0	0.014758	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683851	71683851	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:71683851G>A	ENST00000393524.2	-	17	3446	c.2713C>T	c.(2713-2715)Ccg>Tcg	p.P905S	PHLPP2_ENST00000356272.3_Missense_Mutation_p.P972S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P972S|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P1007S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	972	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATGGTCAGCGGAGTGGAAGAT	0.498000													42	61					0	0	0.092188	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411807	105411807	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr14:105411807G>C	ENST00000333244.5	-	7	10100	c.9981C>G	c.(9979-9981)atC>atG	p.I3327M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3327						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAGGCCTGGATGGACTTGC	0.602000													33	294					0	0	0.139131	0	0
BTNL8	79908	broad.mit.edu	37	5	180338435	180338435	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:180338435C>A	ENST00000231229.4	+	3	728	c.494C>A	c.(493-495)gCg>gAg	p.A165E	BTNL8_ENST00000340184.4_Missense_Mutation_p.A165E|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49E|BTNL8_ENST00000400707.3_Missense_Mutation_p.A40E|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165E|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCACAGCGAAGTGGAAA	0.537000													8	203					0.000157383	0.000166007	0.038147	1	0
DYNLT3	6990	broad.mit.edu	37	X	37700311	37700311	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chrX:37700311T>A	ENST00000378578.4	-	4	370	c.244A>T	c.(244-246)Agc>Tgc	p.S82C	DYNLT3_ENST00000432389.2_Missense_Mutation_p.S88C|DYNLT3_ENST00000378581.3_Missense_Mutation_p.S82C|TM4SF2_ENST00000465127.1_Intron	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	82					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity			endometrium(1)|lung(1)|skin(1)	3						AAACAGGAGCTGGCTGTGTGA	0.423000													9	28					0	0	0.080935	0	0
ZBP1	81030	broad.mit.edu	37	20	56186808	56186808	+	Silent	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:56186808G>T	ENST00000340462.4	-	5	1060	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZBP1_ENST00000395822.3_Silent_p.A208A|ZBP1_ENST00000343535.4_Silent_p.A283A|ZBP1_ENST00000371173.3_Silent_p.A283A			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	283						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGGGGATGTGGGCAGGGCCCT	0.642000													17	15					5.03518e-11	5.81564e-11	0.043863	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951590	130951590	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:130951590G>A	ENST00000312988.7	-	4	925	c.825C>T	c.(823-825)gtC>gtT	p.V275V		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	275					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGCTGAGATGACTGGGGCGT	0.597000													6	133					0	0	0.099896	0	0
LRRC23	10233	broad.mit.edu	37	12	7014909	7014909	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:7014909G>C	ENST00000007969.8	+	2	332	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	LRRC23_ENST00000433346.1_Missense_Mutation_p.E38Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E38Q|LRRC23_ENST00000443597.2_Missense_Mutation_p.E38Q|LRRC23_ENST00000436789.1_Missense_Mutation_p.E38Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000323702.5_Missense_Mutation_p.E38Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	38										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agagggggaagagTTCCCTGA	0.547000													15	59					0	0	0.146539	0	0
CWH43	80157	broad.mit.edu	37	4	49046815	49046815	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:49046815A>G	ENST00000226432.4	+	14	1999	c.1816A>G	c.(1816-1818)Act>Gct	p.T606A	CWH43_ENST00000513409.1_Missense_Mutation_p.T579A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	606					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATCGACAGCACTGATCATGA	0.358000													9	59					0	0	0.058154	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563471	56563471	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:56563471C>G	ENST00000394023.3	-	25	2662	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E822Q|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E853Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E853Q	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	822	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ttctccttctcAGGATCGACT	0.582000													5	61					0	0	0.014758	0	0
UMOD	7369	broad.mit.edu	37	16	20355378	20355378	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:20355378G>A	ENST00000396134.2	-	7	1521	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	UMOD_ENST00000570689.1_Silent_p.V433V|UMOD_ENST00000396142.2_Silent_p.V433V|UMOD_ENST00000396138.4_Silent_p.V482V|UMOD_ENST00000302509.4_Silent_p.V433V|UMOD_ENST00000424589.1_Silent_p.V466V	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	433	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCTTCAGGCTGACTTTCATGT	0.532000													4	64					0	0	0.021553	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072413	34072413	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr21:34072413C>T	ENST00000382499.2	-	4	330	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SYNJ1_ENST00000382491.3_Missense_Mutation_p.D72N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D72N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D72N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D111N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	72							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.D72H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AACATAGTATCACCTGCAAAA	0.343000													13	41					0	0	0.105934	0	0
FLNC	2318	broad.mit.edu	37	7	128493015	128493015	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:128493015C>G	ENST00000325888.8	+	37	6399	c.6138C>G	c.(6136-6138)gtC>gtG	p.V2046V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V2013V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2046					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGTGCGGGTCTGGGGCAAGG	0.617000													14	61					0	0	0.146539	0	0
PROCA1	147011	broad.mit.edu	37	17	27031336	27031336	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:27031336G>C	ENST00000301039.2	-	3	538	c.345C>G	c.(343-345)ttC>ttG	p.F115L	PROCA1_ENST00000439862.3_Missense_Mutation_p.F117L|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	143					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGCCATACCGGAATCGCTCCA	0.637000													55	142					0	0	0.139131	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789495	17789495	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr9:17789495G>A	ENST00000380607.4	+	6	691	c.571G>A	c.(571-573)Gat>Aat	p.D191N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D144N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	191	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGAGAAATTTGATGAGTCTAA	0.408000													14	18					0	0	0.119110	0	0
RPTOR	57521	broad.mit.edu	37	17	78599561	78599561	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:78599561C>A	ENST00000306801.3	+	2	595	c.233C>A	c.(232-234)aCc>aAc	p.T78N	RPTOR_ENST00000570891.1_Missense_Mutation_p.T78N|RPTOR_ENST00000544334.2_Missense_Mutation_p.T78N|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	78					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGGTGAAGACCACGCCCTGT	0.547000													26	81					3.73988e-18	4.45316e-18	0.116897	1	0
IQSEC3	440073	broad.mit.edu	37	12	280452	280452	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:280452C>G	ENST00000382841.2	+	13	2657	c.2245C>G	c.(2245-2247)Cca>Gca	p.P749A	IQSEC3_ENST00000538872.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_Intron|IQSEC3_ENST00000326261.4_Intron	NM_015232.1	NP_056047.1	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	0	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CACCATTTTACCAATTTCAAG	0.478000													12	47					0	0	0.132662	0	0
FCAMR	83953	broad.mit.edu	37	1	207143467	207143467	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:207143467C>T	ENST00000324852.4	-	1	478	c.4G>A	c.(4-6)Gat>Aat	p.D2N	FCAMR_ENST00000400962.3_Missense_Mutation_p.D2N|FCAMR_ENST00000450945.2_Missense_Mutation_p.D2N	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	0						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GCCTCTCCATCCATCTCAGTC	0.493000													7	115					0	0	0.038147	0	0
OR10G8	219869	broad.mit.edu	37	11	123901033	123901033	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:123901033G>C	ENST00000431524.1	+	1	737	c.704G>C	c.(703-705)aGa>aCa	p.R235T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGGAAGCACAGAGCCTTTCAG	0.547000													28	85					0	0	0.134883	0	0
FAT3	120114	broad.mit.edu	37	11	92531712	92531712	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:92531712G>T	ENST00000298047.6	+	9	5550	c.5533G>T	c.(5533-5535)Gcc>Tcc	p.A1845S	FAT3_ENST00000525166.1_Missense_Mutation_p.A1695S|FAT3_ENST00000409404.2_Missense_Mutation_p.A1845S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1845	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAACCATTGCCCATTTCCA	0.458000										TCGA Ovarian(4;0.039)			17	24					3.41278e-10	3.92215e-10	0.033300	1	0
LPPR4	9890	broad.mit.edu	37	1	99771934	99771934	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:99771934C>G	ENST00000370185.3	+	7	2157	c.1660C>G	c.(1660-1662)Cgg>Ggg	p.R554G	LPPR4_ENST00000457765.1_Missense_Mutation_p.R496G|LPPR4_ENST00000370184.1_Missense_Mutation_p.R396G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		554							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAGCTCTGCTCGGGCCAAGTG	0.537000													13	139					0	0	0.119110	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:7577538C>A	ENST00000420246.2	-	7	875	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	77					1.12685e-05	1.19955e-05	0.047766	1	0
COL8A2	1296	broad.mit.edu	37	1	36564747	36564747	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:36564747C>G	ENST00000397799.1	-	4	759	c.535G>C	c.(535-537)Ggg>Cgg	p.G179R	COL8A2_ENST00000481785.1_Missense_Mutation_p.G114R|COL8A2_ENST00000303143.4_Missense_Mutation_p.G179R			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	179	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGGCACCCCTTGGGCACCT	0.697000													9	15					0	0	0.047766	0	0
CUL9	23113	broad.mit.edu	37	6	43152373	43152373	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:43152373G>A	ENST00000252050.4	+	2	409	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	CUL9_ENST00000372647.2_Missense_Mutation_p.E109K|CUL9_ENST00000354495.3_Missense_Mutation_p.E109K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	109					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGCCTGGATGAAGTGGCAAT	0.612000													15	245					0	0	0.146539	0	0
PAX1	5075	broad.mit.edu	37	20	21687351	21687351	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:21687351G>T	ENST00000398485.2	+	2	616	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	PAX1_ENST00000444366.2_Missense_Mutation_p.D164Y|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	188	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CAAGCAAGGAGACCCTGGCAT	0.637000													16	79					0.000308642	0.000322608	0.132662	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879390	3879390	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr18:3879390A>T	ENST00000315677.3	-	4	1274	c.679T>A	c.(679-681)Tgc>Agc	p.C227S	DLGAP1_ENST00000581527.1_Missense_Mutation_p.C227S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.C227S|DLGAP1_ENST00000515196.2_Missense_Mutation_p.C227S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	227					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGGTCGGGGCACCTGCCCATG	0.657000													28	112					0	0	0.116897	0	0
NYAP2	57624	broad.mit.edu	37	2	226273727	226273727	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:226273727G>A	ENST00000272907.6	+	2	544	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	NYAP2_ENST00000409269.2_Missense_Mutation_p.R44Q	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	44																	GATATTGCTCGAGAGAATGAT	0.408000													17	70					0	0	0.146539	0	0
F3	2152	broad.mit.edu	37	1	94998772	94998772	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:94998772C>G	ENST00000334047.7	-	4	628	c.465G>C	c.(463-465)gtG>gtC	p.V155V	F3_ENST00000370207.4_Silent_p.V155V|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	155					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CGGTCACATTCACTTTTGTTC	0.403000													23	18					0	0	0.069288	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465424	77465424	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:77465424C>A	ENST00000282849.5	-	3	681	c.263G>T	c.(262-264)cGa>cTa	p.R88L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	88					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGCGCCGATCGCTTTTTCCT	0.483000													111	172					1.93806e-58	2.40695e-58	0.139131	1	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	23					0	0	0.115264	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703454	33703454	+	Silent	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:33703454G>T	ENST00000253188.3	-	4	746	c.600C>A	c.(598-600)ctC>ctA	p.L200L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	200					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CGCCGATGATGAGGGACAAGG	0.652000													8	39					1.06961e-07	1.1822e-07	0.038147	1	0
EWSR1	2130	broad.mit.edu	37	22	29695251	29695251	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr22:29695251G>C	ENST00000397938.2	+	15	1927	c.1608G>C	c.(1606-1608)tgG>tgC	p.W536C	EWSR1_ENST00000406548.1_Missense_Mutation_p.W535C|EWSR1_ENST00000332050.6_Missense_Mutation_p.W463C|EWSR1_ENST00000331029.7_Missense_Mutation_p.W498C|EWSR1_ENST00000332035.6_Missense_Mutation_p.W480C|EWSR1_ENST00000414183.2_Missense_Mutation_p.W541C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTTCGCCTGGAGAACAGAGT	0.517000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								19	126					0	0	0.055883	0	0
TYK2	7297	broad.mit.edu	37	19	10476195	10476195	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:10476195C>T	ENST00000525621.1	-	7	1490	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TYK2_ENST00000529370.1_Missense_Mutation_p.E337K|TYK2_ENST00000264818.6_Missense_Mutation_p.E337K|TYK2_ENST00000524462.1_Missense_Mutation_p.E152K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	337	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTGCTCACCTCCTCCTTGTTC	0.637000													5	104					0	0	0.014758	0	0
CDON	50937	broad.mit.edu	37	11	125887079	125887079	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:125887079C>T	ENST00000392693.3	-	6	959	c.832G>A	c.(832-834)Gat>Aat	p.D278N	CDON_ENST00000263577.7_Missense_Mutation_p.D278N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	278	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCAACGCTATCAGTGGCAAGA	0.498000													29	51					0	0	0.116897	0	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:158225110C>A	ENST00000289429.5	+	2	828	c.295C>A	c.(295-297)Cgt>Agt	p.R99S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	99					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000													7	86					2.0095e-06	2.16913e-06	0.029380	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018914	161018914	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:161018914G>A	ENST00000368013.3	-	12	2217	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	ARHGAP30_ENST00000368016.3_Silent_p.L633L|ARHGAP30_ENST00000368015.1_Silent_p.L456L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	633					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCCCTCCAGACTCCCTGAA	0.577000													27	266					0	0	0.116897	0	0
ASXL3	80816	broad.mit.edu	37	18	31323142	31323142	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr18:31323142C>T	ENST00000269197.5	+	12	3330	c.3330C>T	c.(3328-3330)ctC>ctT	p.L1110L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGCTAAGCTCTTTGCAAAGC	0.537000													15	43					0	0	0.119110	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238423	71238423	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:71238423C>T	ENST00000398536.4	+	1	111	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	26						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGCTGTGGCTCTGGCTGTGGG	0.667000													10	294					0	0	0.080935	0	0
GMDS	2762	broad.mit.edu	37	6	1742745	1742745	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:1742745C>T	ENST00000380815.4	-	8	1116	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	GMDS_ENST00000530927.1_Missense_Mutation_p.E253K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	283					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCGACAAATTCCCGGACACTA	0.458000													18	81					0	0	0.049695	0	0
AGBL1	123624	broad.mit.edu	37	15	86807741	86807741	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:86807741C>T	ENST00000441037.2	+	10	1296	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F	AGBL1_ENST00000421325.2_Missense_Mutation_p.L401F|AGBL1_ENST00000389298.3_Missense_Mutation_p.L132F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	401					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCCAATAGTCTCAGGAGAGA	0.483000													16	80					0	0	0.146539	0	0
DNAH9	1770	broad.mit.edu	37	17	11532805	11532805	+	Silent	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:11532805T>C	ENST00000262442.3	+	7	1490	c.1422T>C	c.(1420-1422)gcT>gcC	p.A474A	DNAH9_ENST00000454412.2_Silent_p.A474A|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	474	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGGAATGCTCTGAGTCAGC	0.498000													42	79					0	0	0.124865	0	0
OR6B1	135946	broad.mit.edu	37	7	143701741	143701741	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:143701741T>C	ENST00000408922.2	+	1	720	c.652T>C	c.(652-654)Tac>Cac	p.Y218H		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGTCCTGTCCTACGGATGCAT	0.463000													90	108					0	0	0.139131	0	0
NYAP2	57624	broad.mit.edu	37	2	226273717	226273717	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:226273717G>C	ENST00000272907.6	+	2	534	c.121G>C	c.(121-123)Gat>Cat	p.D41H	NYAP2_ENST00000409269.2_Missense_Mutation_p.D41H	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	41																	GAATGCGTCAGATATTGCTCG	0.418000													19	82					0	0	0.038395	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309925	89309925	+	RNA	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:89309925C>A	ENST00000493819.1	-	0	87																											GCAGGAGCCCCAGGAGCTGAG	0.567000													23	159					3.01185e-09	3.41048e-09	0.091800	1	0
RPAP1	26015	broad.mit.edu	37	15	41812941	41812941	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:41812941C>A	ENST00000304330.4	-	22	3559	c.3443G>T	c.(3442-3444)tGg>tTg	p.W1148L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1148	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCACAGCCCAGAGAGCCTG	0.657000													36	63					2.04263e-09	2.32438e-09	0.069456	1	0
UACA	55075	broad.mit.edu	37	15	70968880	70968880	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr15:70968880T>A	ENST00000322954.6	-	13	1268	c.1083A>T	c.(1081-1083)gaA>gaT	p.E361D	UACA_ENST00000560441.1_Missense_Mutation_p.E348D|UACA_ENST00000379983.2_Missense_Mutation_p.E348D|UACA_ENST00000539319.1_Missense_Mutation_p.E252D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	361						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCCTTAAGCTTTCTTCATGTT	0.333000													17	27					0	0	0.038395	0	0
TRO	7216	broad.mit.edu	37	X	54955213	54955213	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chrX:54955213G>A	ENST00000173898.7	+	12	2168	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D289N|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D217N	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	686					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CATGGATATCGACTGCCTAAC	0.542000													14	9					0	0	0.105934	0	0
DVL3	1857	broad.mit.edu	37	3	183885741	183885741	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:183885741G>T	ENST00000313143.3	+	13	1634	c.1386G>T	c.(1384-1386)agG>agT	p.R462S	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R445S	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	462	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGACCGGAGGGAGGCCCGCA	0.577000													21	58					4.35082e-09	4.87883e-09	0.055883	1	0
FDPS	2224	broad.mit.edu	37	1	155288031	155288031	+	Silent	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:155288031C>G	ENST00000356657.6	+	6	795	c.633C>G	c.(631-633)ctC>ctG	p.L211L	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Silent_p.L145L|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Silent_p.L211L	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	211					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGCTGAAGCTCTATTGCCGGG	0.542000													7	143					0	0	0.038147	0	0
ATP2A2	488	broad.mit.edu	37	12	110777138	110777138	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:110777138G>A	ENST00000395494.2	+	11	1954	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	ATP2A2_ENST00000539276.2_Missense_Mutation_p.R491K|ATP2A2_ENST00000308664.6_Missense_Mutation_p.R491K			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	491					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.R491K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCACGTGACAGAAAGTCAATG	0.388000													8	39					0	0	0.038147	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189656	57189656	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:57189656C>T	ENST00000504228.1	+	7	3406	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094W|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101W			Q6ZU35	K1211_HUMAN	KIAA1211	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAAGGGGTTTCGGGAGCAGCA	0.522000													18	25					0	0	0.038395	0	0
JUP	3728	broad.mit.edu	37	17	39912446	39912446	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:39912446G>A	ENST00000393931.3	-	13	2185	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	JUP_ENST00000393930.1_Silent_p.I689I|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.I689I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	689					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGGGCTCATTGATGGGAATCA	0.547000													4	48					0	0	0.009096	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26233309	26233309	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:26233309T>A	ENST00000354667.4	-	9	931	c.763A>T	c.(763-765)Aat>Tat	p.N255Y	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.N243Y	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	255	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCAAAATTGCCACCTATT	0.443000			T	ETV1	prostate								27	41					0	0	0.108266	0	0
CASS4	57091	broad.mit.edu	37	20	55033749	55033749	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr20:55033749G>A	ENST00000371336.3	+	6	2508	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	CASS4_ENST00000360314.3_Silent_p.A769A|CASS4_ENST00000434344.1_Silent_p.A332A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	769					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCTCCAGGCGGAGGCTGAGA	0.627000													15	16					0	0	0.033300	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192436	8192436	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:8192436C>T	ENST00000162391.3	+	2	1153	c.8C>T	c.(7-9)tCt>tTt	p.S3F	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S3F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	3					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ACCATGGCTTCTGACCTAGAG	0.522000													12	121					0	0	0.080935	0	0
ANK1	286	broad.mit.edu	37	8	41581127	41581127	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:41581127C>T	ENST00000396942.1	-	8	819	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	ANK1_ENST00000347528.4_Missense_Mutation_p.A246T|ANK1_ENST00000352337.4_Missense_Mutation_p.A246T|ANK1_ENST00000396945.1_Missense_Mutation_p.A246T|ANK1_ENST00000265709.8_Missense_Mutation_p.A279T|ANK1_ENST00000379758.2_Missense_Mutation_p.A246T|ANK1_ENST00000289734.7_Missense_Mutation_p.A246T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	246	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A246T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCGGGAGGCGATGTGCAGT	0.632000													13	72					0	0	0.119110	0	0
CD1B	910	broad.mit.edu	37	1	158300725	158300725	+	Silent	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:158300725G>T	ENST00000368168.3	-	2	296	c.189C>A	c.(187-189)ggC>ggA	p.G63G		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	63					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATATGGCAGTGCCTGAGTCGC	0.468000													125	362					4.43683e-73	5.57015e-73	0.139131	1	0
PPP2R5E	5529	broad.mit.edu	37	14	64006338	64006338	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr14:64006338G>A	ENST00000337537.3	-	2	668	c.66C>T	c.(64-66)gtC>gtT	p.V22V	PPP2R5E_ENST00000555899.1_Silent_p.V22V|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	22					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGGCTTTTCTGACGGACTTCC	0.463000													23	43					0	0	0.069288	0	0
HOXC5	3222	broad.mit.edu	37	12	54428155	54428155	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:54428155G>A	ENST00000312492.2	+	2	818	c.548G>A	c.(547-549)cGc>cAc	p.R183H	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_3'UTR	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	183					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CTCACTCGCCGCAGGCGCATA	0.512000													16	77					0	0	0.132662	0	0
KAT6A	7994	broad.mit.edu	37	8	41791420	41791420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr8:41791420C>A	ENST00000396930.3	-	18	4861	c.4318G>T	c.(4318-4320)Gag>Tag	p.E1440*	KAT6A_ENST00000406337.1_Nonsense_Mutation_p.E1440*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.E1440*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1440					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TAGGCGCCCTCATGCTCACTG	0.507000													72	111					5.72124e-26	6.99263e-26	0.139131	1	0
GUCY2C	2984	broad.mit.edu	37	12	14774061	14774061	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:14774061G>A	ENST00000261170.3	-	23	2827	c.2691C>T	c.(2689-2691)gcC>gcT	p.A897A		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	897	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGATTTCCAAGGCCATCTTGG	0.498000													21	69					0	0	0.062417	0	0
CENPU	79682	broad.mit.edu	37	4	185618908	185618908	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:185618908C>G	ENST00000281453.5	-	12	1106	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q		NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		346					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GACTTTCTCTCTTTAAGTTCA	0.323000													3	24					0	0	0.115264	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817950	22817950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:22817950C>G	ENST00000404138.1	+	4	1266	c.755C>G	c.(754-756)tCa>tGa	p.S252*	ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.S252*|ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.S252*	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	252					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGTCTTCTCAGATGCACTC	0.348000													9	75					0	0	0.080935	0	0
RGPD4	285190	broad.mit.edu	37	2	108496510	108496510	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:108496510G>A	ENST00000408999.3	+	21	5088	c.5011G>A	c.(5011-5013)Ggc>Agc	p.G1671S	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1671S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1671					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCACTTAAACGGCCTGCTTCG	0.448000													26	187					0	0	0.125774	0	0
MUC17	140453	broad.mit.edu	37	7	100679181	100679181	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:100679181C>T	ENST00000306151.4	+	3	4548	c.4484C>T	c.(4483-4485)tCt>tTt	p.S1495F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1495	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGTTCATCTCCTACACCT	0.502000													58	244					0	0	0.139131	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610105	39610105	+	Splice_Site	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:39610105G>A	ENST00000432096.2	+	2	143	c.129_splice	c.e2-1	p.E44_splice	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000223273.2_Splice_Site_p.E44_splice|YAE1D1_ENST00000448268.1_Splice_Site_p.E44_splice			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	44																	TTATTTTTAGGAAGGTTATAG	0.358000													6	59					0	0	0.021553	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32920762	32920762	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:32920762G>A	ENST00000374843.4	-	1	137	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.L18L|HLA-DMA_ENST00000395303.3_Silent_p.L18L|HLA-DMA_ENST00000395305.3_Silent_p.L18L|HLA-DMA_ENST00000464392.1_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	18						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						AGCAGCCACAGAAGTGGTAAC	0.537000													7	282					0	0	0.038147	0	0
XYLT1	64131	broad.mit.edu	37	16	17235050	17235050	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:17235050T>C	ENST00000261381.6	-	7	1631	c.1547A>G	c.(1546-1548)aAg>aGg	p.K516R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	516					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTTTCATCTTGGTCACCAG	0.502000													49	309					0	0	0.139131	0	0
FOXI1	2299	broad.mit.edu	37	5	169533097	169533097	+	Silent	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:169533097C>A	ENST00000449804.2	+	1	181	c.136C>A	c.(136-138)Cgg>Agg	p.R46R	FOXI1_ENST00000306268.6_Silent_p.R46R	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	46	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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|transcription regulatory region DNA binding	p.R46W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCCTCAGCGGCCCTCCTT	0.687000									Pendred syndrome				3	29					0.115264	0.117814	0.115264	1	0
BMPER	168667	broad.mit.edu	37	7	34182860	34182860	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:34182860G>T	ENST00000297161.2	+	15	2138	c.1764G>T	c.(1762-1764)atG>atT	p.M588I	BMPER_ENST00000426693.1_Missense_Mutation_p.M588I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	588					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGACAGACATGTGTGAATGTC	0.428000													24	87					1.85244e-09	2.11839e-09	0.083992	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99968962	99968962	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:99968962G>C	ENST00000298999.3	+	5	1394	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.G364A|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AGAGATAGTGGATTTAAGAAT	0.398000													23	113					0	0	0.076483	0	0
FDX1L	112812	broad.mit.edu	37	19	10421236	10421236	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr19:10421236C>T	ENST00000393708.3	-	5	496	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	FDX1L_ENST00000494368.1_Missense_Mutation_p.E25K|CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000541276.1_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	160	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TCCGCTCCTTCCAGCTCCGGT	0.592000													11	26					0	0	0.080935	0	0
MYOZ2	51778	broad.mit.edu	37	4	120085430	120085430	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:120085430C>T	ENST00000307128.5	+	5	654	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	147							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCCCTAAGTACTATCAATCTC	0.403000													8	33					0	0	0.038147	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951410	130951410	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:130951410G>C	ENST00000312988.7	-	4	1105	c.1005C>G	c.(1003-1005)atC>atG	p.I335M		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	335					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCTTGGTCTTGATGGTGGCGA	0.547000													22	127					0	0	0.062417	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	77					0.00909568	0.00942198	0.009096	1	0
FAM135A	57579	broad.mit.edu	37	6	71235143	71235143	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:71235143G>A	ENST00000418814.2	+	15	2970	c.2356G>A	c.(2356-2358)Gat>Aat	p.D786N	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Missense_Mutation_p.D573N|FAM135A_ENST00000505868.1_Missense_Mutation_p.D786N|FAM135A_ENST00000361499.3_Missense_Mutation_p.D590N|FAM135A_ENST00000457062.2_Missense_Mutation_p.D573N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	786										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCCAAACACTGATTTAGTCTT	0.353000													12	49					0	0	0.132662	0	0
PAFAH2	5051	broad.mit.edu	37	1	26299085	26299085	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:26299085C>T	ENST00000374282.3	-	10	1227	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PAFAH2_ENST00000374284.1_Missense_Mutation_p.V350I	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	350					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCCCGTACCATAACCTCC	0.527000													10	77					0	0	0.058154	0	0
SETBP1	26040	broad.mit.edu	37	18	42643107	42643107	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr18:42643107G>A	ENST00000282030.5	+	6	4531	c.4235G>A	c.(4234-4236)cGg>cAg	p.R1412Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCGAAGTGCGGAAGATGTGC	0.532000									Schinzel-Giedion syndrome				7	28					0	0	0.029380	0	0
PLXNA4	91584	broad.mit.edu	37	7	132169767	132169767	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:132169767G>A	ENST00000378539.5	-	5	1753	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	459	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCTGTGCCGAAGGACTAGG	0.433000													23	40					0	0	0.083992	0	0
EFCAB5	374786	broad.mit.edu	37	17	28435021	28435021	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:28435021G>A	ENST00000394835.3	+	23	4683	c.4491G>A	c.(4489-4491)ggG>ggA	p.G1497G	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Silent_p.G969G|EFCAB5_ENST00000320856.5_Silent_p.G1373G	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1497							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAATGCCAGGGGAAGGTTTGC	0.343000													45	86					0	0	0.139131	0	0
HSD17B11	51170	broad.mit.edu	37	4	88312133	88312133	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:88312133C>T	ENST00000358290.4	-	1	405	c.90G>A	c.(88-90)agG>agA	p.R30R	HSD17B11_ENST00000507286.1_Silent_p.R30R	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	30					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTGATTTTCTCCTCTTAGGAA	0.463000													3	43					0	0	0.115264	0	0
VPS8	23355	broad.mit.edu	37	3	184675167	184675167	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:184675167G>A	ENST00000287546.4	+	36	3212	c.3041G>A	c.(3040-3042)gGt>gAt	p.G1014D	VPS8_ENST00000436792.2_Missense_Mutation_p.G1012D|VPS8_ENST00000437079.3_Missense_Mutation_p.G1014D|VPS8_ENST00000446204.2_Missense_Mutation_p.G922D	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1014							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTTAGGGAAGGTATTCATGTA	0.318000													6	17					0	0	0.038147	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502747	140502747	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr5:140502747G>A	ENST00000194152.1	+	1	1167	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		389	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATCTACCGTTTATTCTAA	0.433000													69	42					0	0	0.139131	0	0
PNKD	25953	broad.mit.edu	37	2	219137401	219137401	+	Silent	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:219137401C>T	ENST00000248451.3	+	3	489	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron	NM_001077399.2	NP_001070867.1	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	0						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTGTCCAACACGGGCGAGT	0.602000											OREG0015199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	275					0	0	0.108266	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138200479	138200479	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr6:138200479G>A	ENST00000237289.4	+	7	1963	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	633	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.?(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CGAGTACAGAGAAAACAAACG	0.493000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								7	60					0	0	0.029380	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901366	74901366	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:74901366C>T	ENST00000569840.2	+	7	1380	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A280V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A269V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	269						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCTGGCTGCCCAGCGCCTG	0.652000													25	53					0	0	0.116897	0	0
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chrX:155254706C>T	ENST00000285718.7	+	0	1151				WASH6P_ENST00000461007.1_RNA														p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637000													4	7					0	0	0.014758	0	0
INTS4	92105	broad.mit.edu	37	11	77705651	77705651	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:77705651G>A	ENST00000534064.1	-	1	73	c.39C>T	c.(37-39)ttC>ttT	p.F13F	INTS4_ENST00000527522.1_Silent_p.F13F|INTS4_ENST00000529807.1_Silent_p.F13F	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	13					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCACTTTCGTGAATTCCTCAT	0.582000													21	98					0	0	0.076483	0	0
PKD1	5310	broad.mit.edu	37	16	2159023	2159023	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr16:2159023C>T	ENST00000262304.4	-	15	6353	c.6145G>A	c.(6145-6147)Gag>Aag	p.E2049K	PKD1_ENST00000423118.1_Missense_Mutation_p.E2049K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2049	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCGGTTCTCACTGCCCAGG	0.687000													6	39					0	0	0.021553	0	0
WDR1	9948	broad.mit.edu	37	4	10084647	10084647	+	Splice_Site	SNP	T	T	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr4:10084647T>A	ENST00000382452.2	-	10	1477	c.1196_splice	c.e10+1	p.S399_splice	WDR1_ENST00000502702.1_Splice_Site_p.S259_splice|WDR1_ENST00000499869.2_Splice_Site_p.S399_splice|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Splice_Site_p.S259_splice	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	399					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TGCTCTCACCTGTAGTCCCGC	0.627000													11	33					0	0	0.080935	0	0
BAZ2B	29994	broad.mit.edu	37	2	160204009	160204009	+	Silent	SNP	A	A	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:160204009A>G	ENST00000392783.2	-	31	5937	c.5442T>C	c.(5440-5442)agT>agC	p.S1814S	BAZ2B_ENST00000392782.1_Silent_p.S1778S|BAZ2B_ENST00000355831.2_Silent_p.S1780S|BAZ2B_ENST00000343439.5_Silent_p.S1714S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCACTTGCAAACTTGCTGATG	0.343000													13	63					0	0	0.105934	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645807	60645807	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr18:60645807G>A	ENST00000400316.4	+	17	4542	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	PHLPP1_ENST00000262719.5_Missense_Mutation_p.E1433K	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1433					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTGCTGCTGCGAGCTCAGCGC	0.622000													6	25					0	0	0.029380	0	0
CIT	11113	broad.mit.edu	37	12	120128116	120128116	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:120128116C>A	ENST00000392521.2	-	47	6081	c.6026G>T	c.(6025-6027)cGc>cTc	p.R2009L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1967L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1967					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTGTCCCTGCGCAGCTCGGT	0.726000													4	30					0.00909568	0.00942198	0.009096	1	0
NEBL	10529	broad.mit.edu	37	10	21120446	21120446	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:21120446G>C	ENST00000377122.4	-	15	1912	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	506					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGACATCAAGAGTGTCTGTG	0.423000													5	94					0	0	0.021553	0	0
EXOC4	60412	broad.mit.edu	37	7	133164812	133164812	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:133164812C>T	ENST00000253861.4	+	9	1366	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	EXOC4_ENST00000393161.2_Missense_Mutation_p.S446L|EXOC4_ENST00000539845.1_Missense_Mutation_p.S345L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	446					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGGTTCGAATCGTCCTCCCAT	0.483000													22	67					0	0	0.076483	0	0
RNF133	168433	broad.mit.edu	37	7	122338615	122338615	+	Missense_Mutation	SNP	T	T	C	rs140861967		TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:122338615T>C	ENST00000340112.2	-	1	595	c.358A>G	c.(358-360)Act>Gct	p.T120A	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	120	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCTTCTCAGTTGCCACTTTA	0.458000													8	155					0	0	0.038147	0	0
COG3	83548	broad.mit.edu	37	13	46054293	46054293	+	Silent	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr13:46054293G>A	ENST00000349995.5	+	4	529	c.417G>A	c.(415-417)gaG>gaA	p.E139E		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	139					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGTTTCAGGAGCAGTGTGATG	0.398000													14	37					0	0	0.146539	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767303	150767303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr7:150767303G>T	ENST00000485713.1	+	10	2359	c.1319G>T	c.(1318-1320)cGc>cTc	p.R440L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R440L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R431L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R358L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R426L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	440					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTCCCCCGCAACATCTCA	0.632000													11	108					0.00010058	0.000106578	0.093190	1	0
ATP13A3	79572	broad.mit.edu	37	3	194180676	194180676	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr3:194180676C>T	ENST00000439040.1	-	5	1041	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A84T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	84					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CGAATTTTTGCACAAAACCAC	0.323000													14	25					0	0	0.132662	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122313	46122313	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr10:46122313C>G	ENST00000374366.3	-	8	1201	c.736G>C	c.(736-738)Gat>Cat	p.D246H	ZFAND4_ENST00000344646.5_Missense_Mutation_p.D320H|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	320							zinc ion binding										CAGCTATTATCTTCCTTAAGA	0.433000													7	56					0	0	0.029380	0	0
ABCA10	10349	broad.mit.edu	37	17	67148250	67148250	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:67148250G>A	ENST00000269081.4	-	37	5240	c.4331C>T	c.(4330-4332)cCt>cTt	p.P1444L	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1444					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACCTGGGTAGGTTCTTTCAT	0.383000													4	96					0	0	0.009096	0	0
RP11-435B5.3	0	broad.mit.edu	37	1	143378195	143378196	+	RNA	INS	-	-	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr1:143378195_143378196insT	ENST00000431621.1	+	0	901_902				RP11-435B5.5_ENST00000428624.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							TCAATGAGGAATTGATAACAAG	0.332													11	46	---	---	---	---					
RIF1	55183	broad.mit.edu	37	2	152330523	152330524	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr2:152330523_152330524insA	ENST00000243326.4	+	34	7624_7625	c.7141_7142insA	c.(7141-7143)aaafs	p.K2381fs	RIF1_ENST00000444746.2_Frame_Shift_Ins_p.K2381fs|RIF1_ENST00000428287.2_Frame_Shift_Ins_p.K2355fs|RIF1_ENST00000430328.2_Frame_Shift_Ins_p.K2355fs|RIF1_ENST00000453091.2_Frame_Shift_Ins_p.K2355fs			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2381	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATATTTCTGAAAAAACAGTA	0.317													20	93	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													8	61	---	---	---	---					
TECTA	7007	broad.mit.edu	37	11	121000388	121000388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr11:121000388delG	ENST00000392793.1	+	10	2680	c.2409delG	c.(2407-2409)tcfs	p.S803fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.S803fs			O75443	TECTA_HUMAN	tectorin alpha	803	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCATCCTTCGGGGAAGCTGG	0.438													50	124	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125397413	125397414	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr12:125397413_125397414insT	ENST00000536769.1	-	1	2480_2481	c.904_905insA	c.(904-906)aggfs	p.R302fs	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Frame_Shift_Ins_p.R226fs|UBC_ENST00000339647.5_Frame_Shift_Ins_p.R302fs			P0CG48	UBC_HUMAN	ubiquitin C	302	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CATCCCACCTCTGAGACGGAGC	0.530													11	232	---	---	---	---					
AOC4P	90586	broad.mit.edu	37	17	41020041	41020042	+	RNA	INS	-	-	C			TCGA-78-7149-01A-11D-2036-08	TCGA-78-7149-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e21232-2edd-413b-aca5-f1db86fbdda9	0fd5c9a4-bf18-487c-8ada-873b032ac3da	g.chr17:41020041_41020042insC	ENST00000585538.1	+	0	880_881					NR_002773.1																						CTGCTAGTGAACCACAAGGCCC	0.604													17	53	---	---	---	---					
