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
SNED1	25992	broad.mit.edu	37	2	242002212	242002212	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:242002212C>T	ENST00000310397.8	+	17	2262	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	SNED1_ENST00000401884.1_Silent_p.I754I|SNED1_ENST00000342631.6_Silent_p.I754I|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.I754I	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	754	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTCAGAAATCGATGAGTGCC	0.547000													11	7					0	0	0.010729	0	0
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97887907C>T	ENST00000356526.2	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000													40	56					0	0	0.009718	0	0
OR5R1	219479	broad.mit.edu	37	11	56184842	56184842	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:56184842G>A	ENST00000312253.1	-	1	866	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTAGACTATAGATTAGGGGGT	0.358000													32	51					0	0	0.004289	0	0
LRRC49	54839	broad.mit.edu	37	15	71256138	71256138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:71256138C>T	ENST00000260382.5	+	9	1048	c.788C>T	c.(787-789)tCc>tTc	p.S263F	LRRC49_ENST00000544974.2_Missense_Mutation_p.S253F|LRRC49_ENST00000443425.2_Missense_Mutation_p.S219F|LRRC49_ENST00000560369.1_Missense_Mutation_p.S268F|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	263						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GACAGTGTTTCCTGCCTTGCT	0.403000													97	107					0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10469091	10469091	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:10469091C>T	ENST00000382483.3	-	4	2740	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	839					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGAGGGTCCCCGCTGGGCCT	0.716000													11	11					0	0	0.010729	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006749	8006749	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8006749G>A	ENST00000380149.1	-	14	2346	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	ALOXE3_ENST00000318227.3_Silent_p.T748T|ALOXE3_ENST00000448843.2_Silent_p.T616T			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	616					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGGTCCCCTTGGTCTGGGGTG	0.572000													41	36					0	0	0.006999	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142540	18142540	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:18142540A>T	ENST00000278816.2	+	6	1409	c.759A>T	c.(757-759)gaA>gaT	p.E253D	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.E253D|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.E125D|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.E252D			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	253					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTGTGGAATCTGCCATGG	0.443000													49	77					0	0	0.014410	0	0
HECTD1	25831	broad.mit.edu	37	14	31626487	31626487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:31626487G>A	ENST00000399332.1	-	11	2133	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.R549*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	549					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATCATTTTTCGAATTAGAGCA	0.308000													27	38					0	0	0.004656	0	0
SORL1	6653	broad.mit.edu	37	11	121393634	121393634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121393634G>A	ENST00000260197.7	+	11	1661	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	511					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.G511E(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTCAGTGGGAAAGAACTTG	0.473000													24	39					0	0	0.005443	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849624	98849624	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:98849624G>A	ENST00000554295.1	-	0	1299					NR_033801.1																						AAGGTAAATAGCGCCAGGATC	0.483000													14	37					0	0	0.001855	0	0
FBXL4	26235	broad.mit.edu	37	6	99374370	99374370	+	Silent	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:99374370A>G	ENST00000369244.2	-	4	923	c.495T>C	c.(493-495)aaT>aaC	p.N165N	FBXL4_ENST00000229971.1_Silent_p.N165N			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	165					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CAGCTGGTGGATTTGGGGAAT	0.368000													19	40					0	0	0.002780	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620785	144620785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:144620785G>A	ENST00000262577.5	-	2	783	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	251					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGGCCACGGAATGAGAACC	0.642000													20	38					0	0	0.007413	0	0
CPS1	1373	broad.mit.edu	37	2	211457632	211457632	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:211457632C>T	ENST00000233072.5	+	11	1312	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CPS1_ENST00000430249.2_Silent_p.F378F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	372	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACCCTTCTTCGCTGTGCAGT	0.408000													56	71					0	0	0.014410	0	0
OTOL1	131149	broad.mit.edu	37	3	161214600	161214600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:161214600G>A	ENST00000327928.4	+	1	5	c.5G>A	c.(4-6)tGg>tAg	p.W2*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	2						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCAAATATGTGGATGTTTTCT	0.299000													7	6					0	0	0.001984	0	0
CXorf66	347487	broad.mit.edu	37	X	139038683	139038683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:139038683C>T	ENST00000370540.1	-	3	481	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	153	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGTTAACTTTCCTGCACTGTT	0.418000													115	12					0	0	0.014410	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806595	33806595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33806595C>T	ENST00000260908.7	-	2	751	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.E243K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E241K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	244						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTCAATTTTTCTTTATAACCA	0.358000													6	13					0	0	0.001168	0	0
PRKACA	5566	broad.mit.edu	37	19	14208443	14208443	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:14208443C>A	ENST00000308677.4	-	7	786	c.590G>T	c.(589-591)tGg>tTg	p.W197L	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189L	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GCACAAGGTCCAAGTGCGGCC	0.637000													27	37					4.7796e-09	5.05429e-09	0.004656	1	0
TCN1	6947	broad.mit.edu	37	11	59630112	59630112	+	Missense_Mutation	SNP	C	C	T	rs35287646	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:59630112C>T	ENST00000257264.3	-	3	447	c.343G>A	c.(343-345)Gat>Aat	p.D115N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	115					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.D115N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTGGTAATCATATATTAAG	0.363000													15	52					0	0	0.003163	0	0
FAM49A	81553	broad.mit.edu	37	2	16734264	16734264	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:16734264G>A	ENST00000381323.3	-	12	1132	c.912C>T	c.(910-912)ttC>ttT	p.F304F	FAM49A_ENST00000355549.2_Silent_p.F304F|FAM49A_ENST00000406434.1_Silent_p.F304F	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	304						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GCTTTGTAGTGAACCTGGATG	0.448000													16	28					0	0	0.008871	0	0
GON4L	54856	broad.mit.edu	37	1	155735348	155735348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155735348G>A	ENST00000437809.1	-	21	4038	c.3916C>T	c.(3916-3918)Cct>Tct	p.P1306S	GON4L_ENST00000368331.1_Missense_Mutation_p.P1306S|GON4L_ENST00000361040.5_Missense_Mutation_p.P1306S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.P1306S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1306					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCCCTGAGGGAGCGGCTCC	0.517000													20	46					0	0	0.010504	0	0
AOX1	316	broad.mit.edu	37	2	201523929	201523929	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:201523929C>T	ENST00000374700.2	+	28	3454	c.3213C>T	c.(3211-3213)caC>caT	p.H1071H	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1071					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGAATGTCCACCTGCGTGGAA	0.443000													26	29					0	0	0.003330	0	0
SCN5A	6331	broad.mit.edu	37	3	38592469	38592469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38592469C>T	ENST00000413689.1	-	28	5587	c.5394G>A	c.(5392-5394)tgG>tgA	p.W1798*	SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1765*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1798*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1744*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1798					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAATTTCTCCCAGATCTCAT	0.532000													34	27					0	0	0.012213	0	0
FAT3	120114	broad.mit.edu	37	11	92599969	92599969	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92599969C>T	ENST00000298047.6	+	21	11738	c.11721C>T	c.(11719-11721)atC>atT	p.I3907I	FAT3_ENST00000533797.1_Silent_p.I242I|FAT3_ENST00000409404.2_Silent_p.I3907I|FAT3_ENST00000525166.1_Silent_p.I3757I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3907	Laminin G-like.				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)				TCTTGGGCATCTCGGGCCGTG	0.602000										TCGA Ovarian(4;0.039)			174	230					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23894993	23894993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:23894993C>T	ENST00000355349.3	-	20	2359	c.2197G>A	c.(2197-2199)Gga>Aga	p.G733R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	733	Myosin head-like.		G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGAACTGTCCCTCAGGGATG	0.547000													30	49					0	0	0.003271	0	0
OR4X1	390113	broad.mit.edu	37	11	48286276	48286276	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:48286276G>A	ENST00000320048.1	+	1	864	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ACTCCTTCAGGAATGCTGAAG	0.408000													26	41					0	0	0.003954	0	0
NTRK2	4915	broad.mit.edu	37	9	87636271	87636271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:87636271G>A	ENST00000376214.1	+	21	3374	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	NTRK2_ENST00000277120.3_Missense_Mutation_p.M812I|NTRK2_ENST00000376213.1_Missense_Mutation_p.M796I|NTRK2_ENST00000323115.4_Missense_Mutation_p.M796I	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	796					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGCCCCACATGAGGAAGAACA	0.597000										TSP Lung(25;0.17)			26	43					0	0	0.006320	0	0
SCN11A	11280	broad.mit.edu	37	3	38926778	38926778	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38926778C>T	ENST00000302328.3	-	17	3263		c.e17+1		SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTGCCACTTACCTTTGGGCAA	0.408000													16	15					0	0	0.004990	0	0
OR8K5	219453	broad.mit.edu	37	11	55927659	55927659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55927659C>T	ENST00000313447.1	-	1	134	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCAAAATGATCATAGTTAGGT	0.428000													26	46					0	0	0.003330	0	0
FBXL4	26235	broad.mit.edu	37	6	99374369	99374369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:99374369G>A	ENST00000369244.2	-	4	924	c.496C>T	c.(496-498)Cca>Tca	p.P166S	FBXL4_ENST00000229971.1_Missense_Mutation_p.P166S			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	166					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCAGCTGGTGGATTTGGGGAA	0.368000													19	42					0	0	0.014323	0	0
TP53I13	90313	broad.mit.edu	37	17	27899364	27899364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:27899364C>T	ENST00000301057.7	+	6	833	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	240						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GGCGGGAATCCCTGGTAGGGA	0.657000													28	31					0	0	0.009535	0	0
PXDN	7837	broad.mit.edu	37	2	1653137	1653137	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:1653137C>T	ENST00000252804.4	-	17	2465	c.2415G>A	c.(2413-2415)acG>acA	p.T805T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	805					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T805T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGACGGTCTCCGTCCCGATCA	0.652000													20	26					0	0	0.012319	0	0
SERPINA6	866	broad.mit.edu	37	14	94780716	94780716	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:94780716G>A	ENST00000341584.3	-	2	416	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	90					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCAGGCCCTGGAGAAGCTGGG	0.547000													12	17					0	0	0.001855	0	0
OR51I1	390063	broad.mit.edu	37	11	5462139	5462139	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5462139G>A	ENST00000380211.1	-	1	605	c.606C>T	c.(604-606)ctC>ctT	p.L202L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCACCAAGAGCCCATAAA	0.443000													18	18					0	0	0.004990	0	0
KCTD2	23510	broad.mit.edu	37	17	73059116	73059116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:73059116C>T	ENST00000322444.6	+	6	772	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	KCTD2_ENST00000581589.1_Missense_Mutation_p.L57F	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTTTCAGATTCTTCAGGAGAG	0.542000													11	14					0	0	0.013537	0	0
RIBC2	26150	broad.mit.edu	37	22	45822019	45822019	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:45822019C>T	ENST00000342894.3	+	5	1062	c.648C>T	c.(646-648)atC>atT	p.I216I	RIBC2_ENST00000538017.1_Silent_p.I284I|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	216										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGAGCAGATCCGCCTAGTCC	0.637000													20	17					0	0	0.010504	0	0
FAM47B	170062	broad.mit.edu	37	X	34961495	34961495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:34961495C>T	ENST00000329357.5	+	1	583	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	183										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGTAAATATCCCTGTGGGGA	0.642000													15	5					0	0	0.004007	0	0
DNAH12	201625	broad.mit.edu	37	3	57488120	57488120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:57488120C>T	ENST00000351747.2	-	10	1353	c.1173G>A	c.(1171-1173)tgG>tgA	p.W391*	DNAH12_ENST00000389536.4_Nonsense_Mutation_p.W391*|DNAH12_ENST00000311202.6_Nonsense_Mutation_p.W391*	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	391	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACAGCCCAGTGTAACA	0.393000													21	41					0	0	0.010504	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565116	58565116	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:58565116C>T	ENST00000282326.1	+	6	1171	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCACTTCATCGAGCACCAGA	0.632000													26	35					0	0	0.006320	0	0
LRSAM1	90678	broad.mit.edu	37	9	130236188	130236188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:130236188C>T	ENST00000323301.4	+	10	1332	c.728C>T	c.(727-729)tCa>tTa	p.S243L	LRSAM1_ENST00000373324.4_Missense_Mutation_p.S243L|LRSAM1_ENST00000373322.1_Missense_Mutation_p.S243L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.S243L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	243					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACAGATTCTCAAGGGAGGAG	0.537000													38	33					0	0	0.014410	0	0
MON1A	84315	broad.mit.edu	37	3	49950665	49950665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49950665C>T	ENST00000417270.1	-	3	832	c.139G>A	c.(139-141)Gga>Aga	p.G47R	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.G136R|MON1A_ENST00000455683.2_Missense_Mutation_p.G136R			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	39							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCTCCATTCCCTGGGCCATT	0.547000													27	47					0	0	0.003954	0	0
ABCC12	94160	broad.mit.edu	37	16	48167670	48167670	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:48167670G>A	ENST00000311303.3	-	7	1401	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ABCC12_ENST00000416054.1_Silent_p.I352I|ABCC12_ENST00000448542.1_Silent_p.I352I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	352	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGTGGACACGATGGGGGCCA	0.502000													25	25					0	0	0.005443	0	0
ZNF493	284443	broad.mit.edu	37	19	21607153	21607153	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:21607153G>T	ENST00000392288.2	+	4	1801	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	ZNF493_ENST00000355504.4_Missense_Mutation_p.K436N|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTACACATAAGAGAATTCATA	0.353000													6	7					3.59834e-05	3.78839e-05	0.001168	1	0
SLC6A20	54716	broad.mit.edu	37	3	45823701	45823701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:45823701G>A	ENST00000358525.4	-	2	251	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SLC6A20_ENST00000456124.2_Missense_Mutation_p.P46S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.P46S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	46					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P46S(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATGATGTAGGGGACCAGGAAA	0.577000													10	27					0	0	0.008291	0	0
SDK1	221935	broad.mit.edu	37	7	4091412	4091412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:4091412C>T	ENST00000404826.2	+	19	3000	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	SDK1_ENST00000389531.3_Missense_Mutation_p.P954L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	954	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCACCACCCCTGGGGACGGG	0.522000													41	68					0	0	0.013114	0	0
ALPK1	80216	broad.mit.edu	37	4	113352004	113352004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:113352004C>T	ENST00000458497.1	+	11	1580	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	ALPK1_ENST00000504176.2_Missense_Mutation_p.P356L|ALPK1_ENST00000177648.9_Missense_Mutation_p.P434L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	434							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)		TCTTATGTTCCCGAGAGTTTC	0.423000													32	29					0	0	0.009535	0	0
CSMD2	114784	broad.mit.edu	37	1	34076734	34076734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:34076734G>A	ENST00000373381.4	-	41	6426	c.6250C>T	c.(6250-6252)Cca>Tca	p.P2084S	CSMD2_ENST00000373377.1_Missense_Mutation_p.P183S|CSMD2_ENST00000373380.1_Missense_Mutation_p.P957S|CSMD2_ENST00000373388.2_Missense_Mutation_p.P183S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2044						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGGAGCTTGGAAGCTCGCTT	0.557000													76	9					0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84303343	84303343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84303343G>A	ENST00000428679.2	-	18	2143	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	SNAP91_ENST00000520302.1_Missense_Mutation_p.P515L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P517L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P517L|SNAP91_ENST00000195649.6_Missense_Mutation_p.P517L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P517L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P517L|SNAP91_ENST00000437520.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	517	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607000													10	13					0	0	0.010729	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036297	71036297	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:71036297C>T	ENST00000333538.5	+	6	1624	c.990C>T	c.(988-990)ttC>ttT	p.F330F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	330	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGCTCGTTCGTGGTCAACA	0.507000													39	63					0	0	0.005524	0	0
AQP12B	653437	broad.mit.edu	37	2	241622081	241622081	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:241622081G>A	ENST00000407834.3	-	1	236	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	46						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCCGAGCTCGACCAGCGTCC	0.701000													17	19					0	0	0.004007	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000													4	57					0	0	0.003080	0	0
UBASH3A	53347	broad.mit.edu	37	21	43863490	43863490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:43863490C>T	ENST00000319294.6	+	13	1731	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A529V|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	567	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGGTGCACGGCGAGCATGGTG	0.587000													4	17					0	0	0.009096	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973992	143973992	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:143973992G>T	ENST00000409869.1	+	5	451	c.274G>T	c.(274-276)Gca>Tca	p.A92S	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.A92S			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	92	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGCTAAAATTGCAGATGGAGG	0.308000													32	45					4.39465e-27	4.72662e-27	0.013726	1	0
PAPPA	5069	broad.mit.edu	37	9	119158854	119158854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:119158854G>A	ENST00000328252.3	+	22	5212	c.4843G>A	c.(4843-4845)Gaa>Aaa	p.E1615K	PAPPA_ENST00000534838.1_Missense_Mutation_p.E653K|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1615					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGGCCCAAGAACACAGCCG	0.517000													39	75					0	0	0.005524	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354326	45354326	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:45354326C>T	ENST00000359271.2	+	2	901	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	217						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CACGGTACTCCTTTCTGGACC	0.632000													44	53					0	0	0.011902	0	0
ZNF831	128611	broad.mit.edu	37	20	57768375	57768375	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:57768375C>T	ENST00000371030.2	+	1	2301	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	767						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACCTGGCCCCCTCAAAGGGG	0.642000													11	20					0	0	0.010729	0	0
FAT4	79633	broad.mit.edu	37	4	126336140	126336140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126336140C>T	ENST00000394329.3	+	5	6035	c.6022C>T	c.(6022-6024)Cgg>Tgg	p.R2008W	FAT4_ENST00000335110.5_Missense_Mutation_p.R306W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2008	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCTTTGGATCGGGAAAGTCA	0.433000													54	71					0	0	0.014410	0	0
KRT78	196374	broad.mit.edu	37	12	53242411	53242411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:53242411G>A	ENST00000304620.4	-	1	367	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	102	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGAACTGGGGATCGATCTCA	0.572000													19	22					0	0	0.012319	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143169	12143169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:12143169G>A	ENST00000263035.4	+	10	1947	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	629					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAATCAGAAGGGGTTTCTAGA	0.473000													83	149					0	0	0.014410	0	0
CNOT1	23019	broad.mit.edu	37	16	58568274	58568274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58568274G>A	ENST00000317147.5	-	40	6004	c.5672C>T	c.(5671-5673)aCc>aTc	p.T1891I	CNOT1_ENST00000245138.4_Missense_Mutation_p.T742I|CNOT1_ENST00000569240.1_Missense_Mutation_p.T1886I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1891					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGATCATCGGTCTTCAGTAT	0.398000													11	10					0	0	0.010729	0	0
PRSS35	167681	broad.mit.edu	37	6	84234157	84234157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84234157G>A	ENST00000536636.1	+	3	1342	c.997G>A	c.(997-999)Gat>Aat	p.D333N	PRSS35_ENST00000369700.3_Missense_Mutation_p.D333N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	333	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CGAATCCAATGATCTCCTTTA	0.473000													39	47					0	0	0.006999	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889754	36889754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:36889754G>A	ENST00000397224.4	-	8	1814	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L	FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126L|FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	574					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P574L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGCCCGATCGGGGCAGTCCA	0.557000													35	39					0	0	0.003271	0	0
SCN11A	11280	broad.mit.edu	37	3	38936125	38936125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38936125C>T	ENST00000302328.3	-	15	2932	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	SCN11A_ENST00000450244.1_Missense_Mutation_p.D912N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D912N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D912N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	912					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D912N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAGTCCAATCATGCCTGACG	0.507000													67	80					0	0	0.014410	0	0
THEMIS	387357	broad.mit.edu	37	6	128134831	128134831	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:128134831A>C	ENST00000368250.1	-	5	1216	c.718T>G	c.(718-720)Tta>Gta	p.L240V	THEMIS_ENST00000543064.1_Missense_Mutation_p.L319V|THEMIS_ENST00000537166.1_Missense_Mutation_p.L284V|THEMIS_ENST00000368248.2_Missense_Mutation_p.L319V			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	319	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTGAAGCTAAGATTCTTGAT	0.453000													40	44					0	0	0.005524	0	0
OR51G1	79324	broad.mit.edu	37	11	4944768	4944768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4944768C>T	ENST00000321961.2	-	1	869	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGATGTTCACCAAAGCGA	0.502000													42	54					0	0	0.008740	0	0
FAM135A	57579	broad.mit.edu	37	6	71246050	71246050	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:71246050C>T	ENST00000418814.2	+	19	4667	c.4053C>T	c.(4051-4053)acC>acT	p.T1351T	FAM135A_ENST00000457062.2_Silent_p.T1138T|FAM135A_ENST00000505769.1_Silent_p.T931T|FAM135A_ENST00000361499.3_Silent_p.T1155T|FAM135A_ENST00000370479.3_Silent_p.T1138T|FAM135A_ENST00000505868.1_Silent_p.T1351T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1351										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						AACTTCATACCTTTCTGTCTC	0.348000													17	34					0	0	0.008871	0	0
FKBP5	2289	broad.mit.edu	37	6	35610510	35610510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35610510C>T	ENST00000542713.1	-	2	249	c.92G>A	c.(91-93)aGg>aAg	p.R31K	FKBP5_ENST00000536438.1_Missense_Mutation_p.R31K|FKBP5_ENST00000357266.4_Missense_Mutation_p.R31K|FKBP5_ENST00000539068.1_Missense_Mutation_p.R31K|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	31					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TAATACTCCCCTGTCTTTTTT	0.468000													52	66					0	0	0.014410	0	0
FAM3B	54097	broad.mit.edu	37	21	42716438	42716438	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:42716438G>T	ENST00000398652.3	+	5	506	c.440G>T	c.(439-441)gGa>gTa	p.G147V	FAM3B_ENST00000357985.2_Missense_Mutation_p.G108V|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.G131V|FAM3B_ENST00000398647.3_Missense_Mutation_p.G60V			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	108					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GTTGCCAGAGGAATAAACATT	0.433000													7	10					8.12818e-05	8.54245e-05	0.001984	1	0
SEC14L1	6397	broad.mit.edu	37	17	75196569	75196569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:75196569C>T	ENST00000413679.2	+	9	1126	c.823C>T	c.(823-825)Cca>Tca	p.P275S	SEC14L1_ENST00000431431.2_Missense_Mutation_p.P241S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P275S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P275S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P241S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.P275S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P275S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P275S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	275					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTAATAGATTCCAAAAGATGA	0.433000													27	46					0	0	0.006320	0	0
BMP15	9210	broad.mit.edu	37	X	50659043	50659043	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:50659043C>T	ENST00000252677.3	+	2	615	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	205					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCCTACGACTCCGTTTTATGT	0.433000													41	3					0	0	0.007835	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:51025846G>A	ENST00000442544.2	+	27	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.P992P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000													36	57					0	0	0.005524	0	0
PCLO	27445	broad.mit.edu	37	7	82453677	82453677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82453677G>A	ENST00000423517.2	-	19	14808	c.14471C>T	c.(14470-14472)cCt>cTt	p.P4824L	PCLO_ENST00000333891.8_Missense_Mutation_p.P4824L|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4686					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTGAGAGGATACCACCT	0.398000													15	32					0	0	0.006122	0	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:131916126G>A	ENST00000286355.5	-	7	3895	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_ENST00000377928.3_Silent_p.I601I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	601					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)			30	46					0	0	0.009535	0	0
KLKB1	3818	broad.mit.edu	37	4	187171498	187171498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187171498C>T	ENST00000264690.6	+	7	887	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H234Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	234	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGCACCTATCACCCCAACTG	0.458000													52	62					0	0	0.014410	0	0
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248201969C>T	ENST00000366479.2	+	1	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCCCATCCGTATAAGCAA	0.428000													43	58					0	0	0.008740	0	0
OR4K13	390433	broad.mit.edu	37	14	20502796	20502796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:20502796C>T	ENST00000315693.2	-	1	123	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAGCAGGTTTCCTAACACAAT	0.418000													24	22					0	0	0.002780	0	0
DNAJA3	9093	broad.mit.edu	37	16	4476020	4476020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4476020C>T	ENST00000431375.2	+	1	155	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	DNAJA3_ENST00000355296.4_Silent_p.P46P|DNAJA3_ENST00000262375.6_Silent_p.P46P			Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	0					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TGAGCGTCCCCGCCTTTGCGT	0.677000													7	6					0	0	0.003080	0	0
FBXL13	222235	broad.mit.edu	37	7	102665603	102665603	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:102665603G>A	ENST00000393772.2	-	6	828	c.402C>T	c.(400-402)tcC>tcT	p.S134S	FBXL13_ENST00000379308.3_Silent_p.S134S|FBXL13_ENST00000379305.3_Silent_p.S134S|FBXL13_ENST00000455112.2_Silent_p.S134S|FBXL13_ENST00000436908.1_Silent_p.S134S|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379306.3_Silent_p.S134S|FBXL13_ENST00000456695.1_Silent_p.S134S|FBXL13_ENST00000313221.4_Silent_p.S134S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	134										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGAAAATTGGATTCTTCTG	0.303000													18	21					0	0	0.006122	0	0
IMPDH2	3615	broad.mit.edu	37	3	49061839	49061839	+	Splice_Site	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49061839T>C	ENST00000326739.4	-	14	1563		c.e14-2			NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2						GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTCTCATACCTGCAGGCAGAA	0.483000													27	39					0	0	0.007291	0	0
LRRC32	2615	broad.mit.edu	37	11	76371341	76371341	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:76371341G>A	ENST00000407242.2	-	3	1538	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	LRRC32_ENST00000260061.5_Silent_p.G432G|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.G432G	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	432						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCCGGAGGGGCCAGGCTCAT	0.657000													16	8					0	0	0.004990	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294698	77294698	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:77294698C>T	ENST00000393774.3	+	2	277	c.153C>T	c.(151-153)tcC>tcT	p.S51S	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000450042.2_Silent_p.S34S	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	51										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGGCCGAATCCCCGCCGACTG	0.502000													29	29					0	0	0.008361	0	0
INHA	3623	broad.mit.edu	37	2	220440064	220440064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220440064C>T	ENST00000243786.2	+	2	1097	c.917C>T	c.(916-918)cCa>cTa	p.P306L		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	306					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGTCCCTTCCAGTCCCTGGG	0.632000													36	55					0	0	0.003755	0	0
PDZD3	79849	broad.mit.edu	37	11	119059487	119059487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:119059487C>T	ENST00000531114.1	+	7	1945	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	PDZD3_ENST00000525131.1_Nonsense_Mutation_p.R387*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.R386*|PDZD3_ENST00000392817.2_Nonsense_Mutation_p.R466*|PDZD3_ENST00000355547.5_Nonsense_Mutation_p.R400*			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	466					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTTGGCTCCCGACAGTGCTT	0.622000													42	44					0	0	0.011902	0	0
NR1I3	9970	broad.mit.edu	37	1	161200676	161200676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:161200676C>T	ENST00000367983.4	-	8	1138	c.844G>A	c.(844-846)Gat>Aat	p.D282N	NR1I3_ENST00000437437.2_Missense_Mutation_p.D253N|NR1I3_ENST00000515621.1_Missense_Mutation_p.D207N|NR1I3_ENST00000442691.2_Missense_Mutation_p.D286N|NR1I3_ENST00000511944.1_Silent_p.L139L|NR1I3_ENST00000511676.1_Missense_Mutation_p.D253N|NR1I3_ENST00000367984.4_Missense_Mutation_p.D243N|NR1I3_ENST00000511748.1_Silent_p.L110L|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000508740.1_Missense_Mutation_p.D258N|NR1I3_ENST00000412844.2_Missense_Mutation_p.D262N|NR1I3_ENST00000506209.1_Missense_Mutation_p.D253N|NR1I3_ENST00000505005.1_Missense_Mutation_p.D243N|NR1I3_ENST00000504010.1_Missense_Mutation_p.D214N|NR1I3_ENST00000367980.2_Missense_Mutation_p.D291N|NR1I3_ENST00000428574.2_Missense_Mutation_p.D287N|NR1I3_ENST00000508387.1_Silent_p.L110L|NR1I3_ENST00000367982.4_Missense_Mutation_p.D286N|NR1I3_ENST00000367985.3_Missense_Mutation_p.D248N|NR1I3_ENST00000512372.1_Missense_Mutation_p.D214N|NR1I3_ENST00000367981.3_Missense_Mutation_p.D258N|NR1I3_ENST00000367979.2_Missense_Mutation_p.D291N|NR1I3_ENST00000502985.1_Silent_p.L139L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	286					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCAGCTGATCAATCTCATCT	0.607000													18	29					0	0	0.010504	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422940	6422940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:6422940C>T	ENST00000449001.2	+	2	682	c.188C>T	c.(187-189)cCc>cTc	p.P63L	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.P95L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.P95L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.P95L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	95					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTTCACTCCCCCAAACTCAAG	0.637000													32	33					0	0	0.013726	0	0
OR11G2	390439	broad.mit.edu	37	14	20665716	20665716	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:20665716C>T	ENST00000357366.3	+	1	222	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGTTTACCTCCTGACCCTCA	0.567000													16	46					0	0	0.004990	0	0
OR2T4	127074	broad.mit.edu	37	1	248525497	248525497	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248525497G>A	ENST00000366475.1	+	1	615	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCCCGGGAGATTCATCATT	0.498000													63	96					0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31572901	31572901	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:31572901C>T	ENST00000379416.3	-	25	2868	c.2820G>A	c.(2818-2820)gaG>gaA	p.E940E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	940					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCTTACCTCCTCTGCAGGCA	0.577000													59	86					0	0	0.014410	0	0
NWD1	284434	broad.mit.edu	37	19	16908590	16908590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16908590C>T	ENST00000524140.2	+	16	3770	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	NWD1_ENST00000549814.1_Missense_Mutation_p.R1118C|NWD1_ENST00000523826.1_Missense_Mutation_p.R912C|NWD1_ENST00000339803.6_Missense_Mutation_p.R983C|NWD1_ENST00000379808.3_Missense_Mutation_p.R1118C|NWD1_ENST00000552788.1_Missense_Mutation_p.R1118C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1118							ATP binding	p.R983C(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGGGCTTTCGCCGATTCAT	0.537000													104	120					0	0	0.014410	0	0
SALL3	27164	broad.mit.edu	37	18	76754520	76754520	+	Silent	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:76754520G>T	ENST00000536229.3	+	1	2839	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	SALL3_ENST00000575389.2_Silent_p.L843L|SALL3_ENST00000537592.2_Silent_p.L843L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTGCCGCCCTGGAGAACCAGA	0.667000													5	74					3.59834e-05	3.78839e-05	0.001168	1	0
EPHB1	2047	broad.mit.edu	37	3	134670370	134670370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:134670370G>A	ENST00000398015.3	+	3	651	c.281G>A	c.(280-282)aGa>aAa	p.R94K	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	94						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTGTGAGAGACTGCAGC	0.532000													11	9					0	0	0.010729	0	0
MFGE8	4240	broad.mit.edu	37	15	89449929	89449929	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:89449929C>T	ENST00000539437.1	-	5	580	c.444G>A	c.(442-444)aaG>aaA	p.K148K	MFGE8_ENST00000542878.1_Silent_p.K112K|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.K156K|MFGE8_ENST00000268150.8_Silent_p.K156K|MFGE8_ENST00000566497.1_Silent_p.K156K			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	156	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTGAAGGCCTTCAGGTACT	0.537000													34	33					0	0	0.004289	0	0
TTBK2	146057	broad.mit.edu	37	15	43045283	43045283	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:43045283G>T	ENST00000267890.6	-	14	2269	c.2161C>A	c.(2161-2163)Cct>Act	p.P721T		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	721					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCACTAGGAGGTTCACCCTCT	0.463000													53	93					4.96213e-28	5.34177e-28	0.014410	1	0
SLC4A9	83697	broad.mit.edu	37	5	139741433	139741433	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:139741433C>T	ENST00000230993.6	+	4	653	c.618C>T	c.(616-618)gcC>gcT	p.A206A	SLC4A9_ENST00000432095.2_Silent_p.A182A|SLC4A9_ENST00000506545.1_Silent_p.A182A|SLC4A9_ENST00000507527.1_Silent_p.A206A|SLC4A9_ENST00000506757.2_Silent_p.A182A	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	206						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGAAGCCCCCCTGAGGG	0.502000													64	11					0	0	0.014410	0	0
E4F1	1877	broad.mit.edu	37	16	2282530	2282530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:2282530C>T	ENST00000301727.4	+	5	731	c.683C>T	c.(682-684)tCc>tTc	p.S228F	E4F1_ENST00000565090.1_Missense_Mutation_p.S228F|E4F1_ENST00000564139.1_Missense_Mutation_p.S228F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	228	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGTGGGGCCTCCTTCCGCACC	0.692000													17	13					0	0	0.006122	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142649704C>T	ENST00000355265.2	-	10	1569	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000													21	28					0	0	0.002780	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120310856	120310856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:120310856G>A	ENST00000397843.2	+	13	1184	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G237R|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G321R	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	340					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCACTTGTCGGAAGTCCCTC	0.373000			T	MLL	AML								39	59					0	0	0.009718	0	0
RBM47	54502	broad.mit.edu	37	4	40427972	40427972	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:40427972G>A	ENST00000319592.4	-	6	2233	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	RBM47_ENST00000381795.6_Silent_p.F508F|RBM47_ENST00000295971.7_Silent_p.F577F|RBM47_ENST00000514014.1_Silent_p.F539F|RBM47_ENST00000381793.2_Silent_p.F577F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	577	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CAGCAGCAGGGAAGGCCTGAG	0.587000													34	35					0	0	0.013726	0	0
CPNE9	151835	broad.mit.edu	37	3	9771260	9771260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9771260G>A	ENST00000383832.3	+	21	1736	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	516										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ACTGGCCAAGGATGTGCTGGC	0.622000													34	35					0	0	0.003755	0	0
MYH13	8735	broad.mit.edu	37	17	10263492	10263492	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10263492C>T	ENST00000418404.3	-	5	682	c.519G>A	c.(517-519)caG>caA	p.Q173Q	MYH13_ENST00000252172.4_Silent_p.Q173Q|MYH13_ENST00000570743.1_Silent_p.Q173Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	173	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGAGGATAGACTGGTTGTCTC	0.403000													14	15					0	0	0.001855	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702044	187702044	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:187702044C>T	ENST00000295131.2	-	5	771	c.732G>A	c.(730-732)ggG>ggA	p.G244G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	244					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATAACACTTCCCCTCAATTG	0.368000													22	51					0	0	0.002780	0	0
PSMA8	143471	broad.mit.edu	37	18	23759033	23759033	+	Splice_Site	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:23759033T>C	ENST00000308268.6	+	6	706	c.615_splice	c.e6-1	p.V206_splice	PSMA8_ENST00000343848.6_Splice_Site_p.V162_splice|PSMA8_ENST00000415576.2_Splice_Site_p.V200_splice	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CTACATTAGGTTGTCCAGTCT	0.289000													27	34					0	0	0.008361	0	0
ZNF319	57567	broad.mit.edu	37	16	58031661	58031661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58031661G>A	ENST00000299237.2	-	2	1131	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	170					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						CGCTGCCTCAGCTGGCTTGTA	0.622000													89	122					0	0	0.014410	0	0
UBE4B	10277	broad.mit.edu	37	1	10195157	10195157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:10195157C>T	ENST00000377157.3	+	15	2463	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	UBE4B_ENST00000343090.6_Missense_Mutation_p.H713Y|UBE4B_ENST00000253251.8_Missense_Mutation_p.H584Y	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	713					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTATATTTTTCACCCAAGATG	0.418000													20	7					0	0	0.007413	0	0
GPR98	84059	broad.mit.edu	37	5	89924507	89924507	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:89924507T>C	ENST00000405460.2	+	8	1463	c.1367T>C	c.(1366-1368)cTc>cCc	p.L456P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	456	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGAGTTCTCCATTTTGCA	0.478000													39	10					0	0	0.010771	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237372	30237372	+	Silent	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:30237372A>G	ENST00000378988.4	+	2	776	c.675A>G	c.(673-675)gaA>gaG	p.E225E		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGATCTGGGAATTCCTGAATA	0.483000													4	26					0	0	0.009096	0	0
RAF1	5894	broad.mit.edu	37	3	12645699	12645699	+	Missense_Mutation	SNP	G	G	A	rs80338796		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:12645699G>A	ENST00000251849.4	-	7	1209	c.770C>T	c.(769-771)tCg>tTg	p.S257L	RAF1_ENST00000442415.2_Missense_Mutation_p.S257L|RAF1_ENST00000542177.1_Missense_Mutation_p.S176L|RAF1_ENST00000534997.1_Missense_Mutation_p.S42L	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S257L(3)|p.S257W(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				46	51					0	0	0.011902	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2494649	2494649	+	Missense_Mutation	SNP	C	C	G	rs143633292	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:2494649C>G	ENST00000355716.4	+	8	1088	c.789C>G	c.(787-789)gaC>gaG	p.D263E		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	263					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CCCCTCCGGACGTCACCACGG	0.622000			"""Mis, N, F"""		follicular lymphoma								65	10					0	0	0.014410	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737022	142737022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:142737022G>A	ENST00000230173.6	+	20	3235	c.2759G>A	c.(2758-2760)tGg>tAg	p.W920*	GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892*	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTAGATGGCTGGATCACCTCC	0.463000													42	70					0	0	0.009718	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905264	74905264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:74905264G>A	ENST00000370891.2	+	22	2288	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E758K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E657K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E758K	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GTGTCTGTGGGAAATTCTCAC	0.458000													61	6					0	0	0.014410	0	0
CHD9	80205	broad.mit.edu	37	16	53279686	53279686	+	Silent	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:53279686A>T	ENST00000566029.1	+	15	3587	c.3378A>T	c.(3376-3378)ggA>ggT	p.G1126G	CHD9_ENST00000398510.3_Silent_p.G1126G|CHD9_ENST00000447540.1_Silent_p.G1126G|CHD9_ENST00000564845.1_Silent_p.G1126G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1126					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGGAGCAGGACAAACTAATG	0.323000													23	18					0	0	0.014323	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058877	152058877	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152058877C>T	ENST00000368806.1	-	3	1345	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	427							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGGAGTTCCTGATACTTCC	0.468000													59	79					0	0	0.014410	0	0
GDAP1	54332	broad.mit.edu	37	8	75263658	75263658	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:75263658G>A	ENST00000220822.7	+	2	347	c.267G>A	c.(265-267)gaG>gaA	p.E89E	GDAP1_ENST00000434412.2_Silent_p.E21E|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	89	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAATTTGTGAGGCCACTCAGA	0.418000													60	65					0	0	0.014410	0	0
POLL	27343	broad.mit.edu	37	10	103345652	103345652	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:103345652T>A	ENST00000370162.3	-	3	871	c.377A>T	c.(376-378)gAt>gTt	p.D126V	POLL_ENST00000370169.1_Missense_Mutation_p.D126V|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.D38V|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.D126V|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.D38V|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	126	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTACATCCACCAGCCT	0.527000								DNA polymerases (catalytic subunits)					21	22					0	0	0.002780	0	0
CDH9	1007	broad.mit.edu	37	5	26988490	26988490	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:26988490C>T	ENST00000231021.4	-	2	124		c.e2-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTTTTTCCTAAAGAGTAA	0.313000													10	3					0	0	0.006214	0	0
AFM	173	broad.mit.edu	37	4	74352687	74352687	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:74352687T>G	ENST00000226355.3	+	5	579	c.486T>G	c.(484-486)ttT>ttG	p.F162L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	162	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTATAGCTTTTTATATGAAG	0.428000													25	36					0	0	0.005443	0	0
ZNF284	342909	broad.mit.edu	37	19	44590447	44590447	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:44590447C>T	ENST00000421176.3	+	5	1032	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCACAATTCCCAGCTTCGGG	0.393000													27	35					0	0	0.003954	0	0
DUOX2	50506	broad.mit.edu	37	15	45386440	45386440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:45386440G>A	ENST00000389039.6	-	34	4940	c.4555C>T	c.(4555-4557)Cct>Tct	p.P1519S	DUOX2_ENST00000603300.1_Missense_Mutation_p.P1519S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1519					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATTCCTGGAGGGCCGCAGCTG	0.567000													18	34					0	0	0.007413	0	0
ADD2	119	broad.mit.edu	37	2	70900138	70900138	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:70900138C>T	ENST00000264436.3	-	15	2186	c.1741_splice	c.e15-1	p.G581_splice	ADD2_ENST00000407644.2_Splice_Site_p.G581_splice|ADD2_ENST00000355733.3_Splice_Site_p.E610_splice	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	581					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCTTTCTCTCCTGAAAAAAC	0.458000													10	25					0	0	0.001855	0	0
PDZD3	79849	broad.mit.edu	37	11	119059486	119059486	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:119059486C>T	ENST00000531114.1	+	7	1944	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	PDZD3_ENST00000525131.1_Silent_p.S386S|PDZD3_ENST00000322712.4_Silent_p.S385S|PDZD3_ENST00000392817.2_Silent_p.S465S|PDZD3_ENST00000355547.5_Silent_p.S399S			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	465					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	p.S385S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCTTGGCTCCCGACAGTGCT	0.617000													42	44					0	0	0.011902	0	0
TMEM179	388021	broad.mit.edu	37	14	105061533	105061533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105061533G>A	ENST00000341595.3	-	3	1396	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TMEM179_ENST00000556573.1_Missense_Mutation_p.S164F	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	164						integral to membrane		p.S164C(1)		endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		GTAGAAGGCGGAGTTGTCCAC	0.582000													29	39					0	0	0.010818	0	0
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9075173C>T	ENST00000397910.4	-	3	12476	c.12273G>A	c.(12271-12273)atG>atA	p.M4091I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCAAGGATCATTCCTCCAG	0.527000													37	35					0	0	0.003755	0	0
SCN9A	6335	broad.mit.edu	37	2	167136983	167136983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:167136983C>T	ENST00000375387.4	-	14	2570	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	SCN9A_ENST00000409672.1_Missense_Mutation_p.D732N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.D744N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D743N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	743						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACAAAAGGATCCATTACAATA	0.333000													10	7					0	0	0.006214	0	0
SLC13A5	284111	broad.mit.edu	37	17	6589655	6589655	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:6589655C>T	ENST00000433363.2	-	12	1811	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	SLC13A5_ENST00000573648.1_Silent_p.V480V|SLC13A5_ENST00000293800.6_Silent_p.V509V|SLC13A5_ENST00000381074.4_Silent_p.V483V	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	526						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCCTGTTTTCACCTGGAAAA	0.517000													22	33					0	0	0.002780	0	0
C1orf131	128061	broad.mit.edu	37	1	231362502	231362502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:231362502C>T	ENST00000318906.2	-	5	704	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	C1orf131_ENST00000366651.3_Missense_Mutation_p.E225K|C1orf131_ENST00000366649.2_Missense_Mutation_p.E226K			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	226	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTCTTCTTCCTTTGCTGCC	0.408000													30	54					0	0	0.009535	0	0
SGMS1	259230	broad.mit.edu	37	10	52071152	52071152	+	Silent	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:52071152T>C	ENST00000361781.2	-	9	1724	c.765A>G	c.(763-765)caA>caG	p.Q255Q	SGMS1_ENST00000429490.1_Silent_p.Q86Q	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	261					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTCTTCGCAGTTGGGCTTCCC	0.453000													19	13					0	0	0.007413	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303307	153303307	+	Missense_Mutation	SNP	C	C	T	rs147105602		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153303307C>T	ENST00000368739.3	-	9	1404	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R353Q			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	353					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.R353Q(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACAAGGTTCGGGCCACATC	0.562000													43	49					0	0	0.009718	0	0
ADD3	120	broad.mit.edu	37	10	111890164	111890164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:111890164C>T	ENST00000277900.8	+	13	2017	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ADD3_ENST00000360162.3_Missense_Mutation_p.P551L|ADD3_ENST00000356080.4_Missense_Mutation_p.P551L	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	551						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAGCTCCTCCTAACCCATTT	0.348000													27	48					0	0	0.008361	0	0
FRAS1	80144	broad.mit.edu	37	4	79199862	79199862	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:79199862G>A	ENST00000264895.6	+	10	1475	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	FRAS1_ENST00000264899.6_Silent_p.R345R|FRAS1_ENST00000325942.6_Silent_p.R345R	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	345					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCATTTCAAGGAATGGTTATT	0.328000													18	24					0	0	0.010504	0	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824280	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:54824280C>T	ENST00000243911.2	+	1	493	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCATCTCCCTGGTGGCCT	0.557000													34	47					0	0	0.003271	0	0
LRIG1	26018	broad.mit.edu	37	3	66432709	66432709	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:66432709T>A	ENST00000383703.3	-	17	3139	c.2536A>T	c.(2536-2538)Att>Ttt	p.I846F	LRIG1_ENST00000273261.3_Missense_Mutation_p.I869F|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	869						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTCTCAATGTGCCCATTG	0.572000													43	60					0	0	0.011902	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:99012478C>T	ENST00000393504.1	+	8	1262	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F|CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000													19	21					0	0	0.007413	0	0
PDHX	8050	broad.mit.edu	37	11	35016516	35016516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:35016516C>T	ENST00000448838.3	+	11	1500	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	PDHX_ENST00000477173.3_Intron|PDHX_ENST00000430469.2_Missense_Mutation_p.P208S|PDHX_ENST00000227868.4_Missense_Mutation_p.P435S	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	435					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GATTAACCCTCCTCAGGCCTG	0.498000													58	78					0	0	0.014410	0	0
TRPV6	55503	broad.mit.edu	37	7	142583159	142583159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142583159C>T	ENST00000359396.3	-	1	348	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	35					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGTTCTGCTCATCTCGGCTC	0.607000													37	48					0	0	0.009718	0	0
ETS2	2114	broad.mit.edu	37	21	40190484	40190484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:40190484C>T	ENST00000360214.3	+	8	1185	c.725C>T	c.(724-726)tCt>tTt	p.S242F	ETS2_ENST00000360938.3_Missense_Mutation_p.S242F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	242					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCCCAAGTCTCGGCTCAGC	0.547000													122	160					0	0	0.014410	0	0
ATP2A2	488	broad.mit.edu	37	12	110719708	110719708	+	Silent	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:110719708C>A	ENST00000395494.2	+	1	677	c.114C>A	c.(112-114)tcC>tcA	p.S38S	ATP2A2_ENST00000539276.2_Silent_p.S38S|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000308664.6_Silent_p.S38S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	38					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			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						GATGGGGCTCCAACGGTAGGT	0.677000													7	11					8.12818e-05	8.54245e-05	0.001984	1	0
DBR1	51163	broad.mit.edu	37	3	137881090	137881090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:137881090G>A	ENST00000260803.4	-	8	1429	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	DBR1_ENST00000505015.2_Missense_Mutation_p.P192S	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	426						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTCATCTGGATTAATAGAA	0.383000													228	289					0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207700144	207700144	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:207700144G>A	ENST00000367049.4	+	6	933	c.933G>A	c.(931-933)agG>agA	p.R311R	CR1_ENST00000367053.1_Silent_p.R311R|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Silent_p.R311R|CR1_ENST00000400960.2_Silent_p.R311R|CR1_ENST00000367050.4_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	311	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTACCCAAAGGGACAAGGACA	0.527000													71	139					0	0	0.014410	0	0
RFX6	222546	broad.mit.edu	37	6	117248364	117248364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:117248364C>T	ENST00000332958.2	+	17	2076	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	687					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.P687L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCATTTATCCCACTCTCCCT	0.522000													34	49					0	0	0.003271	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680581	9680581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:9680581G>A	ENST00000330255.4	-	4	515	c.503C>T	c.(502-504)tCc>tTc	p.S168F	DHRS7C_ENST00000571134.1_Missense_Mutation_p.S167F	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	168						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGTTCTCCGGGAGATCATGTT	0.473000													8	13					0	0	0.004482	0	0
GRIP2	80852	broad.mit.edu	37	3	14554361	14554361	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:14554361G>A	ENST00000273083.3	-	0	1708							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGGGATGACGGACTCTGGGG	0.612000													23	39					0	0	0.003954	0	0
LOXL4	84171	broad.mit.edu	37	10	100016611	100016611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:100016611C>T	ENST00000260702.3	-	9	1504	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	452	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCCCAGTTTTCACTGCACACG	0.617000													33	35					0	0	0.003271	0	0
AAMDC	28971	broad.mit.edu	37	11	77553552	77553552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:77553552C>T	ENST00000527134.1	+	3	158	c.10C>T	c.(10-12)Cct>Tct	p.P4S	AAMDC_ENST00000533193.1_Missense_Mutation_p.P4S|AAMDC_ENST00000304716.8_Missense_Mutation_p.P4S|AAMDC_ENST00000393427.2_Missense_Mutation_p.P4S|AAMDC_ENST00000526415.1_Missense_Mutation_p.P4S|AAMDC_ENST00000532481.1_Missense_Mutation_p.P4S|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Missense_Mutation_p.P4S|AAMDC_ENST00000525034.1_Missense_Mutation_p.P23S					adipogenesis associated, Mth938 domain containing																		TATGACTTCCCCTGAAATTGC	0.373000													23	25					0	0	0.002780	0	0
AHNAK	79026	broad.mit.edu	37	11	62303492	62303492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62303492G>A	ENST00000378024.4	-	3	353	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	AHNAK_ENST00000530124.1_Nonsense_Mutation_p.Q27*|AHNAK_ENST00000257247.7_Nonsense_Mutation_p.Q27*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	27	PDZ.				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)				TCGTCCCTCTGGGCGATGGTC	0.642000													21	23					0	0	0.003330	0	0
COL3A1	1281	broad.mit.edu	37	2	189861125	189861125	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:189861125G>A	ENST00000304636.3	+	24	1834	c.1662_splice	c.e24-1	p.G555_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G555_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	555	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTTATTAGGGAAGTCAAGGA	0.423000													12	28					0	0	0.013537	0	0
TSKS	60385	broad.mit.edu	37	19	50247522	50247522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:50247522G>A	ENST00000246801.3	-	8	1409	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	TSKS_ENST00000358830.3_Missense_Mutation_p.R243W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	443							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGGTGGGACCGATCCAGGTTC	0.592000													27	32					0	0	0.004656	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627525	21627525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:21627525G>A	ENST00000425654.2	+	19	2872	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E828K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E828K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E779K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	828					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCCCTTAGCTGAGAGTGAGAG	0.552000													38	2					0	0	0.008740	0	0
UBE2Q2P1	388165	broad.mit.edu	37	15	85098251	85098251	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:85098251G>A	ENST00000339094.1	-	0	1341					NR_003661.2																						GCTTAGGAAGGTTATATAATC	0.378000													4	7					0	0	0.009096	0	0
TENM3	55714	broad.mit.edu	37	4	183600840	183600840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:183600840G>A	ENST00000511685.1	+	8	1471	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	TENM3_ENST00000406950.2_Missense_Mutation_p.D450N					teneurin transmembrane protein 3																		GGAGCTCCTGGATGGCAGCAG	0.537000													30	37					0	0	0.009535	0	0
UHMK1	127933	broad.mit.edu	37	1	162487890	162487890	+	Splice_Site	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:162487890A>G	ENST00000489294.1	+	7	1182		c.e7-1		UHMK1_ENST00000282169.8_Splice_Site|UHMK1_ENST00000545294.1_Splice_Site|UHMK1_ENST00000538489.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTAATAATCAGATGTTGTAG	0.308000													14	17					0	0	0.003163	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227192753	227192753	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:227192753G>A	ENST00000366769.3	-	34	6103	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	CDC42BPA_ENST00000334218.5_Silent_p.I1666I|CDC42BPA_ENST00000366764.2_Silent_p.I1576I|CDC42BPA_ENST00000366767.3_Silent_p.I1523I|CDC42BPA_ENST00000366766.2_Silent_p.I1639I|CDC42BPA_ENST00000366765.3_Silent_p.I1617I|CDC42BPA_ENST00000535525.1_Silent_p.I1584I	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1617					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GGGATTTGGTGATAGATGGAA	0.532000													30	44					0	0	0.007291	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905807	54905807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:54905807G>A	ENST00000293373.6	+	9	938	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G237S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	287					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTGTCTGCAGGGCTCCCTCTA	0.532000													32	38					0	0	0.003755	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100992	85100992	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:85100992G>A	ENST00000566428.1	+	2	946	c.315G>A	c.(313-315)aaG>aaA	p.K105K	KIAA0513_ENST00000567328.1_Silent_p.K105K|KIAA0513_ENST00000258180.3_Silent_p.K105K|KIAA0513_ENST00000538274.1_Silent_p.K105K			O60268	K0513_HUMAN	KIAA0513	105						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACGTGGAGAAGATCTTCTCTG	0.622000													24	21					0	0	0.002780	0	0
AUTS2	26053	broad.mit.edu	37	7	70252365	70252365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:70252365G>A	ENST00000342771.4	+	18	2800	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	AUTS2_ENST00000406775.2_Missense_Mutation_p.D803N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	827										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGACAGAGATAGAGATGT	0.582000													24	10					0	0	0.004656	0	0
ABCC9	10060	broad.mit.edu	37	12	22001151	22001151	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:22001151C>T	ENST00000261200.4	-	23	2798	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.E897E|ABCC9_ENST00000261201.4_Silent_p.E933E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGTTTTCCTCTCTAAAGTAG	0.413000													28	51					0	0	0.012213	0	0
MGAM	8972	broad.mit.edu	37	7	141765557	141765557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:141765557G>A	ENST00000475668.2	+	40	4750	c.4696G>A	c.(4696-4698)Gag>Aag	p.E1566K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1566	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGAGTACGAGATGTGTGT	0.498000													12	23					0	0	0.001855	0	0
NF1	4763	broad.mit.edu	37	17	29483086	29483086	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:29483086A>T	ENST00000358273.4	+	2	529	c.146A>T	c.(145-147)tAc>tTc	p.Y49F	NF1_ENST00000356175.3_Missense_Mutation_p.Y49F|NF1_ENST00000431387.4_Missense_Mutation_p.Y49F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	49					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTCCAAATACAAGTTTTCT	0.338000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	38					0	0	0.004990	0	0
CCDC148	130940	broad.mit.edu	37	2	159107317	159107317	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:159107317C>T	ENST00000283233.5	-	10	1531	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	CCDC148_ENST00000409187.1_Silent_p.K415K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	406	Glu/Lys-rich.									endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						gcaacaattccttcttcttcc	0.388000													5	6					0	0	0.000602	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540392	96540392	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:96540392G>A	ENST00000371321.3	+	4	700	c.618G>A	c.(616-618)agG>agA	p.R206R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	206					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACATCAGGATTGTAAGCA	0.373000													28	50					0	0	0.008361	0	0
DNAH17	8632	broad.mit.edu	37	17	76455103	76455103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:76455103G>A	ENST00000389840.5	-	61	9923	c.9799C>T	c.(9799-9801)Cgg>Tgg	p.R3267W	DNAH17_ENST00000585328.1_Missense_Mutation_p.R3276W|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTTGATCCGGGACAGCTTC	0.582000													37	51					0	0	0.003271	0	0
SF3B6	51639	broad.mit.edu	37	2	24290698	24290698	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:24290698C>T	ENST00000233468.4	-	4	525	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		104					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTTCTTTGTGTCCA	0.353000													48	60					0	0	0.014410	0	0
INO80	54617	broad.mit.edu	37	15	41372096	41372096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:41372096G>A	ENST00000361937.3	-	9	1358	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	INO80_ENST00000401393.3_Missense_Mutation_p.H312Y			Q9ULG1	INO80_HUMAN	INO80 complex subunit	312	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGCACTGGTGAGCAAGCTGA	0.527000													57	89					0	0	0.014410	0	0
CDH16	1014	broad.mit.edu	37	16	66948226	66948226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:66948226C>T	ENST00000299752.4	-	7	866	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CDH16_ENST00000570262.1_Missense_Mutation_p.A145T|CDH16_ENST00000568632.1_Missense_Mutation_p.A128T|CDH16_ENST00000565796.1_Missense_Mutation_p.A225T|CDH16_ENST00000394055.3_Missense_Mutation_p.A225T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	225	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGGCAGTGGCCTGGTGGCCT	0.587000													39	52					0	0	0.006999	0	0
PML	5371	broad.mit.edu	37	15	74290467	74290467	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:74290467G>A	ENST00000565898.1	+	2	336	c.252G>A	c.(250-252)tcG>tcA	p.S84S	PML_ENST00000564428.1_Silent_p.S84S|PML_ENST00000436891.3_Silent_p.S84S|PML_ENST00000435786.2_Silent_p.S84S|PML_ENST00000395132.2_Silent_p.S84S|PML_ENST00000395135.3_Silent_p.S84S|PML_ENST00000359928.4_Silent_p.S84S|PML_ENST00000354026.6_Silent_p.S84S|PML_ENST00000268058.3_Silent_p.S84S|PML_ENST00000563500.1_Silent_p.S84S|PML_ENST00000268059.6_Silent_p.S84S|PML_ENST00000569965.1_Silent_p.S84S|PML_ENST00000569477.1_Silent_p.S84S|PML_ENST00000567543.1_Silent_p.S84S			P29590	PML_HUMAN	promyelocytic leukemia	84					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.S84S(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGGAGGCGTCGGGCATGCAGT	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""								27	26					0	0	0.006320	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072820	74072820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:74072820C>T	ENST00000370367.3	+	2	225	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CCGCGCAGGCCGGGGCGGAGA	0.612000													15	42					0	0	0.002450	0	0
BRD4	23476	broad.mit.edu	37	19	15366341	15366341	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:15366341T>A	ENST00000263377.2	-	10	2035	c.1814A>T	c.(1813-1815)gAc>gTc	p.D605V	BRD4_ENST00000371835.4_Missense_Mutation_p.D605V|BRD4_ENST00000360016.5_Missense_Mutation_p.D605V	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	605					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTGCACTTGTCCTCTTCCTC	0.592000			T	C15orf55	lethal midline carcinoma of young people								60	73					0	0	0.014410	0	0
ZNF761	388561	broad.mit.edu	37	19	53959621	53959621	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53959621C>T	ENST00000454407.1	+	0	2313							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACGTCATCCCTTACATGCC	0.398000													29	58					0	0	0.010818	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669398	45669398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:45669398G>A	ENST00000322157.4	+	11	1574	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R366Q|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R442Q	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	446					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGTCATCCGAATGCTGCAT	0.373000													6	40					0	0	0.004482	0	0
ANO5	203859	broad.mit.edu	37	11	22257768	22257768	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:22257768G>A	ENST00000324559.8	+	8	1025	c.708G>A	c.(706-708)ggG>ggA	p.G236G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	236						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGTTTGGGATTGAAAGAC	0.388000													18	24					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179453361	179453361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179453361C>T	ENST00000589042.1	-	304	63315	c.63091G>A	c.(63091-63093)Gac>Aac	p.D21031N	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12091N|TTN_ENST00000342175.6_Missense_Mutation_p.D12158N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19390N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18463N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D11966N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19390	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATGGTCTGGGAGGAGA	0.448000													81	128					0	0	0.014410	0	0
PRX	57716	broad.mit.edu	37	19	40903777	40903777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:40903777G>A	ENST00000324001.7	-	7	752	c.482C>T	c.(481-483)cCc>cTc	p.P161L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	161	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAACTTGGGAAAGGAGAA	0.662000													12	13					0	0	0.013537	0	0
AMER3	205147	broad.mit.edu	37	2	131521642	131521642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:131521642C>T	ENST00000423981.1	+	2	2107	c.1997C>T	c.(1996-1998)aCt>aTt	p.T666I	AMER3_ENST00000321420.4_Missense_Mutation_p.T666I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGAGGTGACACTCTGGATGCA	0.657000													10	16					0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128478071	128478071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:128478071C>T	ENST00000325888.8	+	6	1261	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	FLNC_ENST00000346177.6_Missense_Mutation_p.R334C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	334					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						TGACAAGGATCGCACCTATGC	0.537000													24	38					0	0	0.005443	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641814	108641814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:108641814C>T	ENST00000218006.2	-	11	2530	c.2239G>A	c.(2239-2241)Ggt>Agt	p.G747S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	747	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATGGGGTACCCCGGACCATC	0.537000													32	4					0	0	0.009535	0	0
SCN10A	6336	broad.mit.edu	37	3	38739366	38739366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38739366C>T	ENST00000449082.2	-	27	5344	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1782					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTATATTTCGATTGGGTTT	0.473000													19	32					0	0	0.006122	0	0
SDK1	221935	broad.mit.edu	37	7	4091411	4091411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:4091411C>T	ENST00000404826.2	+	19	2999	c.2860C>T	c.(2860-2862)Cct>Tct	p.P954S	SDK1_ENST00000389531.3_Missense_Mutation_p.P954S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	954	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTCACCACCCCTGGGGACGG	0.527000													42	69					0	0	0.013114	0	0
KCNN2	3781	broad.mit.edu	37	5	113740319	113740319	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:113740319T>A	ENST00000512097.3	+	4	1785	c.767T>A	c.(766-768)aTt>aAt	p.I256N	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.I256N			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	256						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATGTGGATATTATTTTATCT	0.438000													40	6					0	0	0.006999	0	0
PSMC3	5702	broad.mit.edu	37	11	47446711	47446711	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:47446711C>T	ENST00000298852.3	-	3	403	c.246G>A	c.(244-246)gtG>gtA	p.V82V	PSMC3_ENST00000602866.1_Silent_p.V66V|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGTCTTGTTCACTTTGATTT	0.507000													33	47					0	0	0.003755	0	0
C12orf36	283422	broad.mit.edu	37	12	13526349	13526349	+	Missense_Mutation	SNP	G	G	A	rs143075618	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:13526349G>A	ENST00000318426.2	-	3	423	c.206C>T	c.(205-207)tCg>tTg	p.S69L	C12orf36_ENST00000527705.2_Missense_Mutation_p.S69L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCCAGGGAACGATTCCTCATT	0.453000													32	35					0	0	0.010818	0	0
SCAP	22937	broad.mit.edu	37	3	47470026	47470026	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:47470026G>A	ENST00000265565.5	-	4	799	c.387C>T	c.(385-387)atC>atT	p.I129I	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	129					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGTGGTTCCGGATCTCCTCCA	0.527000													68	80					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871598	51871598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:51871598G>A	ENST00000371497.5	+	2	2488	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G531E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G531E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	534					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCCCAAAACGGGGCCCCCAGC	0.552000													30	39					0	0	0.008361	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:247978344C>T	ENST00000357627.1	-	1	687	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000													15	14					0	0	0.004007	0	0
EGFR	1956	broad.mit.edu	37	7	55211097	55211097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:55211097G>A	ENST00000275493.2	+	3	517	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	EGFR_ENST00000344576.2_Missense_Mutation_p.E114K|EGFR_ENST00000420316.2_Missense_Mutation_p.E114K|EGFR_ENST00000342916.3_Missense_Mutation_p.E114K|EGFR_ENST00000442591.1_Missense_Mutation_p.E114K|EGFR_ENST00000455089.1_Missense_Mutation_p.E114K|EGFR_ENST00000454757.2_Missense_Mutation_p.E61K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	114					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E114K(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TATGTACTACGAAAATTCCTA	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	51					0	0	0.005443	0	0
BACH2	60468	broad.mit.edu	37	6	90642343	90642343	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:90642343C>T	ENST00000257749.4	-	9	3017	c.2310G>A	c.(2308-2310)ttG>ttA	p.L770L	BACH2_ENST00000343122.3_Silent_p.L770L|BACH2_ENST00000537989.1_Silent_p.L770L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	770						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGCCTGGCTCCAAGCAGCAGG	0.642000													40	37					0	0	0.005524	0	0
KRT40	125115	broad.mit.edu	37	17	39140424	39140424	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39140424G>A	ENST00000377755.4	-	1	136	c.102C>T	c.(100-102)ctC>ctT	p.L34L	KRT40_ENST00000398486.2_Silent_p.L34L			Q6A162	K1C40_HUMAN	keratin 40	34	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGGTACCGGGGAGACAAGCTG	0.577000													24	19					0	0	0.003954	0	0
TNC	3371	broad.mit.edu	37	9	117798450	117798450	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:117798450C>T	ENST00000350763.4	-	21	5994	c.5583G>A	c.(5581-5583)acG>acA	p.T1861T	TNC_ENST00000341037.4_Silent_p.T1679T|TNC_ENST00000340094.3_Silent_p.T1497T|TNC_ENST00000542877.1_Silent_p.T1498T|TNC_ENST00000423613.2_Silent_p.T1588T|TNC_ENST00000346706.3_Silent_p.T1315T|TNC_ENST00000535648.1_Silent_p.T1406T|TNC_ENST00000537320.1_Silent_p.T1224T|TNC_ENST00000345230.3_Silent_p.T1224T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1861	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGTGTATTCCGTGGCAGGCT	0.502000													39	64					0	0	0.006230	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351400	40351400	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:40351400C>T	ENST00000310169.2	+	4	1006	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	289					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGGCAGAAATCATGCCGGCCT	0.512000													58	62					0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			144	19					7.99487e-62	8.62984e-62	0.014410	1	0
BTG1	694	broad.mit.edu	37	12	92539259	92539259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:92539259G>A	ENST00000256015.3	-	1	414	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	18					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GAAGGACACGGCGGCGGCGAT	0.706000			T	MYC	BCLL								41	51					0	0	0.011902	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118368581	118368581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:118368581G>A	ENST00000528052.1	+	13	1428	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E453K|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E453K			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	453	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTTCTGTAGCGAAGACACAGT	0.507000													24	42					0	0	0.004656	0	0
TAOK2	9344	broad.mit.edu	37	16	30002663	30002663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:30002663C>T	ENST00000279394.3	+	19	3327	c.2924C>T	c.(2923-2925)cCc>cTc	p.P975L		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	864	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTGCTGGCTCCCCCAGGCCCC	0.716000													10	10					0	0	0.010729	0	0
ACVR1C	130399	broad.mit.edu	37	2	158399337	158399337	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:158399337C>T	ENST00000243349.7	-	6	1341	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ACVR1C_ENST00000409680.3_Silent_p.K277K|ACVR1C_ENST00000348328.5_Silent_p.K170K|ACVR1C_ENST00000335450.7_Silent_p.K247K	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	327	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTAAGATATTCTTTGATTTTA	0.368000													34	52					0	0	0.003271	0	0
CDH10	1008	broad.mit.edu	37	5	24488047	24488047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:24488047G>A	ENST00000264463.4	-	12	2599	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCCTCCGAGGAATAAATAAC	0.502000										HNSCC(23;0.051)			30	6					0	0	0.006320	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180696	142180696	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142180696G>A	ENST00000390368.2	-	0	228																											GGGTCTTGTCGATACCAGGAC	0.507000													56	245					0	0	0.014410	0	0
OR7E24	26648	broad.mit.edu	37	19	9361804	9361804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9361804G>A	ENST00000456448.1	+	1	199	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGGTGTCTCAGAATTCCTCCT	0.502000													11	14					0	0	0.010729	0	0
IGFL3	388555	broad.mit.edu	37	19	46627345	46627345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:46627345G>A	ENST00000341415.2	-	3	172	c.148C>T	c.(148-150)Cct>Tct	p.P50S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	50						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		TGCTCTGAAGGGTTGTAGATC	0.562000													41	45					0	0	0.006230	0	0
SORL1	6653	broad.mit.edu	37	11	121416054	121416054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121416054C>T	ENST00000260197.7	+	14	2096	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	656					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGCGGACCCCCCATGCCACA	0.542000													22	38					0	0	0.012319	0	0
LRRN4	164312	broad.mit.edu	37	20	6022301	6022301	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:6022301C>T	ENST00000378858.4	-	5	1814	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	530	Poly-Glu.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TCCCTTCCTCCTCCTCACTGT	0.637000													61	80					0	0	0.014410	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802053	95802053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:95802053C>T	ENST00000414645.2	+	19	2186	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	696						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AACTATTCTCCATATGTGAAT	0.323000													125	228					0	0	0.014410	0	0
PTPN3	5774	broad.mit.edu	37	9	112145746	112145746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:112145746G>A	ENST00000412145.1	-	18	4499	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	PTPN3_ENST00000394827.3_Missense_Mutation_p.T248I|PTPN3_ENST00000262539.3_Missense_Mutation_p.T626I|PTPN3_ENST00000374541.2_Missense_Mutation_p.T780I|PTPN3_ENST00000446349.1_Missense_Mutation_p.T604I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	780	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAGGCGATGGTGCAGTCCTC	0.592000													50	72					0	0	0.014410	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773280	208773280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:208773280G>A	ENST00000457206.1	-	7	2379	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	PLEKHM3_ENST00000389247.4_Silent_p.L636L|PLEKHM3_ENST00000427836.2_Silent_p.L636L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	0					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTGTTGAAGGAGGTATTCTC	0.438000													34	44					0	0	0.004878	0	0
PAPOLG	64895	broad.mit.edu	37	2	61021139	61021139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:61021139C>T	ENST00000238714.3	+	19	2051	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	601					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GTATCACCCCCCACTGTGTGT	0.393000													32	48					0	0	0.013726	0	0
RBM25	58517	broad.mit.edu	37	14	73580994	73580994	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:73580994G>A	ENST00000261973.7	+	18	2677	c.2391_splice	c.e18-1	p.V798_splice	RBM25_ENST00000527432.1_Splice_Site_p.V798_splice|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	798	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCTCTTTTAGGTTATGGCTCA	0.259000													12	24					0	0	0.001855	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951599	30951599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:30951599C>T	ENST00000402321.1	-	3	930	c.613G>A	c.(613-615)Gac>Aac	p.D205N	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D205N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D205N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D205N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	205					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGTTGGGGTCGTAGTAGCGA	0.627000													30	59					0	0	0.007291	0	0
PAPPA	5069	broad.mit.edu	37	9	118949457	118949457	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:118949457T>A	ENST00000328252.3	+	2	809	c.440T>A	c.(439-441)aTc>aAc	p.I147N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	147					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTCTTATATCTCACGTGAC	0.453000													34	31					0	0	0.006230	0	0
OR2A25	392138	broad.mit.edu	37	7	143771930	143771930	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143771930G>A	ENST00000408898.2	+	1	656	c.618G>A	c.(616-618)ctG>ctA	p.L206L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGTCTGTGCTGGTGGGAGCCT	0.438000													64	54					0	0	0.014410	0	0
MYF6	4618	broad.mit.edu	37	12	81101504	81101504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:81101504G>A	ENST00000228641.3	+	1	228	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	2					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGAACATGATGATGGACCTTT	0.463000													36	41					0	0	0.005524	0	0
IL17RA	23765	broad.mit.edu	37	22	17589371	17589371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:17589371C>T	ENST00000319363.6	+	13	1395	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	421	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGGCCATCTCGGAGGCAGGA	0.637000													31	42					0	0	0.010818	0	0
CACNA1D	776	broad.mit.edu	37	3	53814129	53814129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:53814129G>A	ENST00000288139.3	+	39	4842	c.4724G>A	c.(4723-4725)cGa>cAa	p.R1575Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1540Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1555Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R447Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1555					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTTTGGTTCGAACGGCTCTT	0.468000													33	32					0	0	0.003755	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200847	67200847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67200847G>A	ENST00000312629.5	+	10	880	c.835G>A	c.(835-837)Gat>Aat	p.D279N	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	279	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAAAACCATGGATAAGATCAT	0.627000													44	54					0	0	0.014410	0	0
FAM9B	171483	broad.mit.edu	37	X	9000489	9000489	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:9000489G>A	ENST00000362066.3	-	2	365	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FAM9B_ENST00000428477.1_Silent_p.V14V|FAM9B_ENST00000327220.5_Silent_p.V14V			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	14						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ATTCATCACGGACTGGATCCT	0.393000													53	3					0	0	0.014410	0	0
OR4S2	219431	broad.mit.edu	37	11	55418847	55418847	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55418847C>T	ENST00000312422.2	+	1	468	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACTCCATTATCCAAGTGGCTC	0.433000													64	86					0	0	0.014410	0	0
LAMA2	3908	broad.mit.edu	37	6	129766889	129766889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:129766889G>A	ENST00000421865.2	+	45	6401	c.6352G>A	c.(6352-6354)Gaa>Aaa	p.E2118K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2118	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCCATCAAGGAACTTGAGGA	0.378000													15	19					0	0	0.002450	0	0
RELN	5649	broad.mit.edu	37	7	103197509	103197509	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:103197509C>T	ENST00000424685.2	-	38	5871	c.5712G>A	c.(5710-5712)acG>acA	p.T1904T	RELN_ENST00000428762.1_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T			P78509	RELN_HUMAN	reelin	1904					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)		AAAGTATATTCGTTGTTTGAG	0.403000													26	35					0	0	0.003954	0	0
SUOX	6821	broad.mit.edu	37	12	56397533	56397533	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:56397533G>A	ENST00000394109.3	+	3	1084	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Silent_p.G120G|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Silent_p.G120G|SUOX_ENST00000266971.3_Silent_p.G120G|SUOX_ENST00000548274.1_Silent_p.G120G			P51687	SUOX_HUMAN	sulfite oxidase	120	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TACATCCAGGGGGGCCTTCAA	0.567000													47	60					0	0	0.014410	0	0
GOLM1	51280	broad.mit.edu	37	9	88661463	88661463	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:88661463T>A	ENST00000388712.3	-	5	557	c.389A>T	c.(388-390)aAt>aTt	p.N130I	GOLM1_ENST00000388711.3_Missense_Mutation_p.N130I|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	130						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCTGCCGTAATTCCTCTGCAG	0.532000													7	9					0	0	0.008291	0	0
KRT84	3890	broad.mit.edu	37	12	52777539	52777539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:52777539C>T	ENST00000257951.3	-	2	656	c.590G>A	c.(589-591)tGg>tAg	p.W197*	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	197	Coil 1A.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGAAGCTCCACTTGGTCTC	0.507000													30	32					0	0	0.012213	0	0
SYT16	83851	broad.mit.edu	37	14	62551057	62551057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:62551057G>A	ENST00000430451.2	+	5	1775	c.1578G>A	c.(1576-1578)atG>atA	p.M526I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	526	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGTGGAAATGATCAAAGGCA	0.537000													22	22					0	0	0.010504	0	0
RABL6	55684	broad.mit.edu	37	9	139722973	139722973	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:139722973T>G	ENST00000371663.4	+	4	616	c.341T>G	c.(340-342)tTa>tGa	p.L114*	RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000357466.2_Nonsense_Mutation_p.L114*|RABL6_ENST00000371671.4_Nonsense_Mutation_p.L114*|RABL6_ENST00000371675.3_5'UTR|RABL6_ENST00000311502.7_Nonsense_Mutation_p.L114*|RABL6_ENST00000432842.2_Nonsense_Mutation_p.L76*	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		GGCGACGGCTTAAAGATGGAG	0.572000													19	24					0	0	0.012319	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459118	1459118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:1459118C>T	ENST00000359801.3	-	3	622	c.586G>A	c.(586-588)Gga>Aga	p.G196R	SIRPB2_ENST00000444444.1_Missense_Mutation_p.G98R|SIRPB2_ENST00000381630.1_Missense_Mutation_p.G98R|SIRPB2_ENST00000537284.1_Missense_Mutation_p.G58R	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	196	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACCAGCTCCCTGGAACCAC	0.577000													25	38					0	0	0.003330	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:70146759G>A	ENST00000335568.5	+	1	543	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E181K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	181					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTACACAATTGAAAGGCACAG	0.418000													45	46					0	0	0.010771	0	0
CDK8	1024	broad.mit.edu	37	13	26967593	26967593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:26967593C>T	ENST00000381527.3	+	7	1239	c.736C>T	c.(736-738)Cct>Tct	p.P246S	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	246	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AACTAGTAATCCTTATCACCA	0.343000													59	89					0	0	0.014410	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61004923	61004923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:61004923G>A	ENST00000373880.4	+	5	967	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.E209K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	235										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CTGCAGCACTGAATTCAATAC	0.428000													21	19					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9065029	9065029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9065029G>A	ENST00000397910.4	-	3	22620	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7475	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGAGAAAGGATGAATTTTC	0.473000													44	68					0	0	0.013114	0	0
NR3C2	4306	broad.mit.edu	37	4	149075792	149075792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:149075792G>A	ENST00000355292.3	-	5	2649	c.2287C>T	c.(2287-2289)Cca>Tca	p.P763S	NR3C2_ENST00000344721.4_Missense_Mutation_p.P759S|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Missense_Mutation_p.P759S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P763S|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	759	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCTGTATCTGGTTTTGAGCTG	0.488000													79	90					0	0	0.014410	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552480	140552480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140552480G>A	ENST00000231137.3	+	1	238	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTATTTCTGGGAATGTCTTG	0.483000													30	10					0	0	0.009535	0	0
C1orf173	127254	broad.mit.edu	37	1	75055579	75055579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:75055579C>T	ENST00000326665.5	-	12	2130	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E441K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	638	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTAAGGATTCCTCAATTGGA	0.413000													36	48					0	0	0.004878	0	0
NOB1	28987	broad.mit.edu	37	16	69788587	69788587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:69788587C>A	ENST00000268802.5	-	2	135	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	36	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCCGAATCTCAGTGACCACC	0.632000													20	22					1.9806e-07	2.09073e-07	0.014323	1	0
CNBD2	140894	broad.mit.edu	37	20	34571961	34571961	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:34571961C>T	ENST00000373973.3	+	5	638	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CNBD2_ENST00000538900.1_Silent_p.F155F|CNBD2_ENST00000349339.1_Silent_p.F155F					cyclic nucleotide binding domain containing 2																		GCTTTTATTTCATCTACCTGG	0.522000													35	35					0	0	0.012213	0	0
CDH11	1009	broad.mit.edu	37	16	64982634	64982634	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:64982634G>A	ENST00000394156.3	-	13	2404	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGAAGCCCAGATAAAGCAAT	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	12					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113246620	113246620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:113246620C>T	ENST00000297405.5	-	68	10958	c.10714G>A	c.(10714-10716)Gaa>Aaa	p.E3572K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E3403K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3502K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3532K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3572						integral to membrane|plasma membrane		p.E3532*(1)|p.E3572*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTTTCTTCCTTCATTTTC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	61					0	0	0.004878	0	0
APOB	338	broad.mit.edu	37	2	21229594	21229594	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:21229594C>T	ENST00000233242.1	-	26	10273	c.10146G>A	c.(10144-10146)gaG>gaA	p.E3382E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3382	LDL receptor binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGGTGCCCTCTAATTTGT	0.413000													248	369					0	0	0.014410	0	0
RNF150	57484	broad.mit.edu	37	4	141789438	141789438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:141789438C>T	ENST00000306799.3	-	7	1821	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	RNF150_ENST00000379512.2_Missense_Mutation_p.D291N|RNF150_ENST00000515673.1_Missense_Mutation_p.D432N|RNF150_ENST00000420921.2_Missense_Mutation_p.D291N	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	432						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCTTCACAGTCCTGGTCAGTG	0.483000													12	28					0	0	0.010729	0	0
GPR128	84873	broad.mit.edu	37	3	100368614	100368614	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:100368614G>T	ENST00000273352.3	+	11	1610	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	GPR128_ENST00000475887.1_Missense_Mutation_p.G153C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	448					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTCTGTTACTGGTCTGGCTCT	0.368000													4	62					1.23904e-05	1.30678e-05	0.000602	1	0
XPO5	57510	broad.mit.edu	37	6	43543521	43543521	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:43543521C>A	ENST00000265351.7	-	1	291	c.81G>T	c.(79-81)caG>caT	p.Q27H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	27	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCGGTAGCGCTGGGTGGAGT	0.672000													49	72					1.78197e-24	1.9097e-24	0.014410	1	0
GATAD2B	57459	broad.mit.edu	37	1	153800700	153800700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153800700G>A	ENST00000368655.4	-	2	367	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	42						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTTTCAGACGTTCCATGGCC	0.502000													65	115					0	0	0.014410	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623849	21623849	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21623849G>A	ENST00000304418.3	-	1	373	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCTTCAGGAGGGAGTACATGG	0.542000													24	31					0	0	0.002780	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422255	89422255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:89422255G>A	ENST00000359595.3	-	4	953	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	HAPLN3_ENST00000562889.1_Missense_Mutation_p.P309S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	247	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CGGTGGCGGGGGCCGTAGCTT	0.682000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	11					0	0	0.010729	0	0
ADAM2	2515	broad.mit.edu	37	8	39645760	39645760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:39645760G>A	ENST00000265708.4	-	9	756	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ADAM2_ENST00000521880.1_Missense_Mutation_p.S218L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S199L|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	218	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATATTAAATGAAACAAAAAT	0.239000													4	17					0	0	0.000602	0	0
ZNF251	90987	broad.mit.edu	37	8	145947332	145947332	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:145947332A>T	ENST00000292562.7	-	5	1988	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AAGCTTTTCCATATTCATTAC	0.468000													33	39					0	0	0.012213	0	0
RALGDS	5900	broad.mit.edu	37	9	135983586	135983586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:135983586G>A	ENST00000393160.3	-	6	1174	c.821C>T	c.(820-822)cCa>cTa	p.P274L	RALGDS_ENST00000372047.3_Missense_Mutation_p.P317L|RALGDS_ENST00000372062.3_Missense_Mutation_p.P300L|RALGDS_ENST00000372050.3_Missense_Mutation_p.P329L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.P400L|RALGDS_ENST00000393157.3_Missense_Mutation_p.P328L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	329					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGCTGGCGCTGGAGCCGATTC	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								24	29					0	0	0.014323	0	0
TENM4	26011	broad.mit.edu	37	11	78498042	78498042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:78498042C>T	ENST00000278550.7	-	16	2728	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCCGCTGGTCGCAGGCTGCC	0.697000													5	2					0	0	0.000602	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681538	44681538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:44681538C>T	ENST00000381176.4	-	4	501	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	123						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTCGTAGTTCATTGCCGAGT	0.552000													64	82					0	0	0.014410	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228328	74228328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:74228328C>T	ENST00000316292.9	-	5	1769	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	EEF1A1_ENST00000309268.6_Missense_Mutation_p.G260S|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G260S	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	260						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.G260C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGAACAGTACCAATACCTAAA	0.413000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	32					0	0	0.009535	0	0
IL5RA	3568	broad.mit.edu	37	3	3137086	3137086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:3137086C>T	ENST00000446632.2	-	8	1326	c.752G>A	c.(751-753)gGa>gAa	p.G251E	IL5RA_ENST00000383846.1_Missense_Mutation_p.G251E|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.G251E|IL5RA_ENST00000256452.3_Missense_Mutation_p.G251E|IL5RA_ENST00000311981.8_Missense_Mutation_p.G251E|IL5RA_ENST00000456302.1_Missense_Mutation_p.G251E|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.G251E	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	251					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGACGAGTTCCTTCAATCTC	0.358000													17	19					0	0	0.007413	0	0
RBM41	55285	broad.mit.edu	37	X	106312492	106312492	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:106312492G>A	ENST00000372487.1	-	6	1094	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	RBM41_ENST00000372479.3_Silent_p.T356T	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	356	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TACTGGGAAAGGTGATAAAAG	0.423000													30	6					0	0	0.009535	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478974	110478974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:110478974G>A	ENST00000378402.5	+	50	8685	c.8581G>A	c.(8581-8583)Gat>Aat	p.D2861N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2861					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTTGAAAAGGATGTGGTTCT	0.388000										HNSCC(38;0.096)			9	5					0	0	0.013537	0	0
FAM169B	283777	broad.mit.edu	37	15	98995102	98995102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:98995102C>T	ENST00000558256.1	-	5	571	c.322G>A	c.(322-324)Gag>Aag	p.E108K	FAM169B_ENST00000332908.4_Missense_Mutation_p.E108K	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	108										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCCAGGGCCTCGTCCTCTGGG	0.557000													14	19					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113303898	113303898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:113303898G>A	ENST00000297405.5	-	56	9059	c.8815C>T	c.(8815-8817)Cca>Tca	p.P2939S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2770S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2869S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2899S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2939	Sushi 20.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATTGGCTGGAATTCCAGGA	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	40					0	0	0.006320	0	0
NUP98	4928	broad.mit.edu	37	11	3803334	3803334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:3803334G>A	ENST00000324932.7	-	2	434	c.14C>T	c.(13-15)tCa>tTa	p.S5L	NUP98_ENST00000355260.3_Missense_Mutation_p.S5L|NUP98_ENST00000397004.4_Missense_Mutation_p.S5L|NUP98_ENST00000397007.4_Missense_Mutation_p.S5L|NUP98_ENST00000359171.4_Missense_Mutation_p.S5L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	5					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTTCCAAATGATTTGTTAAA	0.358000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								14	21					0	0	0.002450	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370480	130370480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:130370480G>A	ENST00000529410.1	+	6	635	c.156G>A	c.(154-156)atG>atA	p.M52I	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.M52I|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.M52I|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.M52I|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.M52I|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.M52I			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	52					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGAATGAGATGGAAAATGTTA	0.393000													11	23					0	0	0.001855	0	0
MEP1A	4224	broad.mit.edu	37	6	46766888	46766888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:46766888C>T	ENST00000230588.4	+	5	241	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	78	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTGGACGTTCCCCATTCCTTA	0.443000													18	28					0	0	0.008871	0	0
MASP2	10747	broad.mit.edu	37	1	11106674	11106674	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:11106674G>A	ENST00000400897.3	-	3	366	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MASP2_ENST00000400898.3_Silent_p.F117F	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	117	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTCGGAGCGGAAGGTAATGT	0.627000													25	2					0	0	0.003330	0	0
RALY	22913	broad.mit.edu	37	20	32661652	32661652	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:32661652C>T	ENST00000246194.3	+	5	859	c.357C>T	c.(355-357)taC>taT	p.Y119Y	RALY_ENST00000375114.3_Intron|RALY_ENST00000493399.1_Intron	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	119						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ATGATTACTACCGGGACGACT	0.572000													23	32					0	0	0.003330	0	0
CHD5	26038	broad.mit.edu	37	1	6209357	6209357	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:6209357C>T	ENST00000262450.3	-	8	1209	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCTGGGTCCAGGCATACGA	0.657000													8	14					0	0	0.003080	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119243	38119243	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:38119243G>C	ENST00000406386.3	+	7	935	c.680G>C	c.(679-681)gGa>gCa	p.G227A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	227					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGCTCCGGGGAGAAAGCGGG	0.647000													9	12					0	0	0.004482	0	0
PCDH15	65217	broad.mit.edu	37	10	55955622	55955622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:55955622G>A	ENST00000373965.2	-	11	1520	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	PCDH15_ENST00000395446.1_Missense_Mutation_p.P376S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P376S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P381S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P354S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P354S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P376S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P339S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P376S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P376S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P376S|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.P376S|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	376	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAAAGGCAGGAAGAGGATGA	0.368000										HNSCC(58;0.16)			21	38					0	0	0.014323	0	0
EPHB3	2049	broad.mit.edu	37	3	184298380	184298380	+	Missense_Mutation	SNP	C	C	T	rs146519815		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:184298380C>T	ENST00000330394.2	+	12	2815	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	788	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GATGACCCCTCCGATCCTACC	0.652000													24	43					0	0	0.003330	0	0
TG	7038	broad.mit.edu	37	8	133899155	133899155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:133899155G>A	ENST00000220616.4	+	9	1578	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	TG_ENST00000377869.1_Missense_Mutation_p.G513E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	513					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGAATGGAGGGAGACAAGAA	0.448000													24	36					0	0	0.002780	0	0
OR52E6	390078	broad.mit.edu	37	11	5862787	5862787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5862787C>T	ENST00000329322.5	-	1	340	c.341G>A	c.(340-342)aGc>aAc	p.S114N	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S118N	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATACGATGCTCTCCATGAC	0.448000													70	96					0	0	0.014410	0	0
OR13C2	392376	broad.mit.edu	37	9	107367090	107367090	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107367090C>T	ENST00000542196.1	-	1	861	c.819G>A	c.(817-819)ttG>ttA	p.L273L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGGTAGCATCCAAGTCATCCG	0.418000													38	59					0	0	0.008740	0	0
MC2R	4158	broad.mit.edu	37	18	13885332	13885332	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:13885332G>A	ENST00000327606.3	-	2	366	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	62					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGCTACAGATGAAAAAGTACA	0.408000													14	18					0	0	0.002450	0	0
KRT9	3857	broad.mit.edu	37	17	39728108	39728108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39728108C>T	ENST00000246662.4	-	1	202	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	46	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R46L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGAGCTGAATCGGCCCCCTCC	0.682000													4	5					0	0	0.009096	0	0
ZNF665	79788	broad.mit.edu	37	19	53667831	53667831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53667831G>A	ENST00000600412.1	-	2	1832	c.1717C>T	c.(1717-1719)Cgt>Tgt	p.R573C	ZNF665_ENST00000396424.3_Missense_Mutation_p.R638C			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGGTTGAACGAACACTGAAG	0.393000													25	43					0	0	0.004656	0	0
RP1	6101	broad.mit.edu	37	8	55542301	55542301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:55542301G>A	ENST00000220676.1	+	4	6007	c.5859G>A	c.(5857-5859)atG>atA	p.M1953I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1953					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTATGGATGAAAATACACC	0.333000													13	13					0	0	0.001855	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397508	57397508	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57397508G>A	ENST00000300101.2	-	2	1279	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGAGAAAAGGAAAATACCAA	0.512000													29	35					0	0	0.007291	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111098	7111098	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:7111098G>A	ENST00000306904.5	+	1	934	c.747G>A	c.(745-747)cgG>cgA	p.R249R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	249	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGTGTCCGGGACGACTGTC	0.652000													12	32					0	0	0.001855	0	0
OR13C2	392376	broad.mit.edu	37	9	107367354	107367354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107367354C>T	ENST00000542196.1	-	1	597	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGCCAGTTTCATGACAGCCA	0.398000													53	38					0	0	0.014410	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531774	71531774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:71531774C>T	ENST00000393330.2	-	9	955	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TSPAN8_ENST00000546561.1_Missense_Mutation_p.E135K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E135K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.E52K			P19075	TSN8_HUMAN	tetraspanin 8	135					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E135K(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATTGTTTTTCACTTTCCCCT	0.338000													176	251					0	0	0.014410	0	0
BCAN	63827	broad.mit.edu	37	1	156621460	156621460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156621460G>A	ENST00000329117.4	+	7	1612	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	BCAN_ENST00000361588.5_Missense_Mutation_p.E426K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	426	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCAGCAGAGGCCCCTAG	0.562000													56	61					0	0	0.014410	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821044	35821044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:35821044G>A	ENST00000399989.1	+	2	1010	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MAGEB16_ENST00000399988.1_Missense_Mutation_p.G244E|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G244E|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G276E|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G244E	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	244	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCATCTTTGGAGAGCCCAGA	0.488000													13	0					0	0	0.003163	0	0
OR6C1	390321	broad.mit.edu	37	12	55714467	55714467	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55714467C>T	ENST00000379668.2	+	1	122	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCTTTGTCTTCCTGCTCATCA	0.423000													21	34					0	0	0.002780	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948233	62948233	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62948233G>A	ENST00000403374.2	-	7	774	c.471C>T	c.(469-471)acC>acT	p.T157T	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.T323T|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	323					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTGCTTCATGGTGGATTTCA	0.398000													22	20					0	0	0.014323	0	0
CLIC5	53405	broad.mit.edu	37	6	45882144	45882144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:45882144G>A	ENST00000185206.6	-	5	1038	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	CLIC5_ENST00000339561.6_Missense_Mutation_p.L137F|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Missense_Mutation_p.L137F	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	296	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCTCTTTCAAGAGCTGGCATG	0.473000													35	30					0	0	0.003755	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452686	130452686	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:130452686G>T	ENST00000356763.3	-	4	1713	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	386					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGGTCTGTAGGCAGGATGTT	0.403000													42	73					1.57019e-19	1.67824e-19	0.007835	1	0
TRAF5	7188	broad.mit.edu	37	1	211545749	211545749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:211545749C>T	ENST00000336184.2	+	11	1439	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	TRAF5_ENST00000367004.3_Missense_Mutation_p.S460F|TRAF5_ENST00000261464.5_Missense_Mutation_p.S460F|TRAF5_ENST00000427925.2_Missense_Mutation_p.S354F	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	460	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TCACACCTGTCCCTATACTTT	0.557000													34	78					0	0	0.004289	0	0
ACAD10	80724	broad.mit.edu	37	12	112182701	112182701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:112182701G>A	ENST00000455480.2	+	14	2239	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E259K|ACAD10_ENST00000313698.4_Missense_Mutation_p.E657K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E657K	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	657				H -> R (in Ref. 2; BAC03869).			acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TATCTCTCCAGAGAGCCTCTC	0.587000													29	38					0	0	0.006320	0	0
OR51I1	390063	broad.mit.edu	37	11	5461959	5461959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5461959C>T	ENST00000380211.1	-	1	785	c.786G>A	c.(784-786)atG>atA	p.M262I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTGAATCATGGAGACAG	0.483000													28	41					0	0	0.007291	0	0
SRL	6345	broad.mit.edu	37	16	4242767	4242767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4242767C>T	ENST00000399609.3	-	6	821	c.809G>A	c.(808-810)gGg>gAg	p.G270E	SRL_ENST00000537996.1_Missense_Mutation_p.G228E	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	729	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GAAGAGGGCCCCGTAAACCCG	0.552000													42	46					0	0	0.007835	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040908	96040908	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:96040908C>T	ENST00000295225.5	+	5	534	c.399C>T	c.(397-399)ttC>ttT	p.F133F	KCNIP3_ENST00000360990.3_Silent_p.F111F|KCNIP3_ENST00000468529.1_Silent_p.F107F|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	133	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATGCACACTTCCTCTTCAACG	0.637000													35	74					0	0	0.006230	0	0
KRT39	390792	broad.mit.edu	37	17	39122874	39122874	+	Missense_Mutation	SNP	G	G	A	rs147200744		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39122874G>A	ENST00000355612.2	-	1	270	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	79	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGAGAAAAACGGGCATTGAAG	0.512000													108	114					0	0	0.014410	0	0
VANGL1	81839	broad.mit.edu	37	1	116228028	116228028	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:116228028C>T	ENST00000355485.2	+	7	1465	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	VANGL1_ENST00000310260.3_Silent_p.F398F|VANGL1_ENST00000369510.3_Silent_p.F396F|VANGL1_ENST00000369509.1_Silent_p.F398F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	398					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGCCATTTTCCCCTCCATGG	0.612000													40	5					0	0	0.008740	0	0
C19orf66	55337	broad.mit.edu	37	19	10200677	10200677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10200677C>T	ENST00000397881.3	+	5	662	c.185C>T	c.(184-186)tCc>tTc	p.S62F	C19orf66_ENST00000253110.11_Missense_Mutation_p.S113F|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.S113F			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	113										large_intestine(3)|skin(1)	4						TTTGCCTGCTCCTCCTGCGAC	0.602000													11	6					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10443353C>T	ENST00000245503.5	-	12	1423	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	MYH2_ENST00000532183.1_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E347K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423000													33	53					0	0	0.004878	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416206	105416206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105416206G>A	ENST00000333244.5	-	7	5701	c.5582C>T	c.(5581-5583)tCc>tTc	p.S1861F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1861						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)			CCCCTGCATGGAGGGGAGGCT	0.642000													93	139					0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	G	A	rs145961628		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:10273906G>A	ENST00000396573.2	-	3	672	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_ENST00000404927.2_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	121					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F121L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGGGGACGAAGGTGTGGG	0.602000													39	48					0	0	0.006999	0	0
OR14K1	343170	broad.mit.edu	37	1	247902828	247902828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:247902828G>A	ENST00000283225.2	+	1	912	c.912G>A	c.(910-912)tgG>tgA	p.W304*	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						AAGTCCTGTGGAATGTTAgaa	0.403000													19	22					0	0	0.010504	0	0
ZNF440	126070	broad.mit.edu	37	19	11943726	11943726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11943726C>T	ENST00000304060.5	+	4	1899	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTGGGAAACCCTTCGGATCT	0.468000													14	20					0	0	0.002450	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871782	51871782	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:51871782C>T	ENST00000371497.5	+	2	2672	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	TSHZ2_ENST00000603338.2_Silent_p.A592A|TSHZ2_ENST00000329613.6_Silent_p.A592A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	595					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACACCTGGCCCCTTACACTC	0.517000													45	39					0	0	0.010771	0	0
LMOD2	442721	broad.mit.edu	37	7	123296126	123296126	+	Silent	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:123296126T>C	ENST00000458573.2	+	1	266	c.109T>C	c.(109-111)Ttg>Ctg	p.L37L	LMOD2_ENST00000456238.2_Silent_p.L37L	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	37	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										AGAGAGAGAGTTGGAAGACAT	0.537000													14	14					0	0	0.004007	0	0
PICALM	8301	broad.mit.edu	37	11	85701401	85701401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:85701401G>A	ENST00000526033.1	-	13	1595	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Missense_Mutation_p.P434S|PICALM_ENST00000356360.5_Missense_Mutation_p.P434S	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	434					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTTAAGCTTGGAATGGCATCA	0.353000			T	"""MLLT10, MLL"""	"""TALL, AML, """								22	35					0	0	0.014323	0	0
UTP20	27340	broad.mit.edu	37	12	101731947	101731947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:101731947G>A	ENST00000261637.4	+	30	3934	c.3760G>A	c.(3760-3762)Gac>Aac	p.D1254N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1254					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TATTGTAATGGACATAGTTGA	0.423000													46	55					0	0	0.014410	0	0
GRM5	2915	broad.mit.edu	37	11	88386377	88386377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:88386377C>T	ENST00000418177.2	-	4	1473	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	GRM5_ENST00000305432.5_Missense_Mutation_p.G369E|GRM5_ENST00000393297.1_Missense_Mutation_p.G369E|GRM5_ENST00000305447.4_Missense_Mutation_p.G369E|GRM5_ENST00000455756.2_Missense_Mutation_p.G369E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	369					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGTGGAAACCCTTCCAGTCG	0.383000													23	29					0	0	0.002780	0	0
ANO5	203859	broad.mit.edu	37	11	22301197	22301197	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:22301197C>T	ENST00000324559.8	+	22	2945	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	876						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAAGATTCTCCATGATTTTG	0.348000													13	28					0	0	0.004007	0	0
VN1R4	317703	broad.mit.edu	37	19	53770607	53770607	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:53770607G>A	ENST00000311170.4	-	1	365	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	104					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGATCACCTGGAAGACACTCA	0.488000										HNSCC(26;0.072)			13	19					0	0	0.001855	0	0
ACSF3	197322	broad.mit.edu	37	16	89199645	89199645	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:89199645C>T	ENST00000317447.4	+	8	1718	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ACSF3_ENST00000406948.3_Silent_p.F447F|ACSF3_ENST00000378345.4_Silent_p.F182F	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	447					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGAGTGCATTCACCCTGGATG	0.557000													24	27					0	0	0.014323	0	0
FBN2	2201	broad.mit.edu	37	5	127863635	127863635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:127863635C>T	ENST00000508053.1	-	10	1436	c.462G>A	c.(460-462)atG>atA	p.M154I	FBN2_ENST00000262464.4_Missense_Mutation_p.M154I|FBN2_ENST00000508989.1_Missense_Mutation_p.M121I			P35556	FBN2_HUMAN	fibrillin 2	154	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCCACCATTCATGCATCTCA	0.368000													22	8					0	0	0.004656	0	0
ME1	4199	broad.mit.edu	37	6	84025054	84025054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84025054C>T	ENST00000369705.3	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ME1_ENST00000543031.1_Missense_Mutation_p.E152K|ME1_ENST00000541327.1_Missense_Mutation_p.E61K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	227					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCCATGAATTCGTCCAAAAAA	0.303000													22	43					0	0	0.005443	0	0
TLR4	7099	broad.mit.edu	37	9	120475290	120475290	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:120475290A>G	ENST00000355622.6	+	3	985	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Y255C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	295					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						TACTTAGACTACTACCTCGAT	0.338000													36	36					0	0	0.005524	0	0
ZNF609	23060	broad.mit.edu	37	15	64967026	64967026	+	Missense_Mutation	SNP	C	C	T	rs142077559		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:64967026C>T	ENST00000326648.3	+	4	2101	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	658						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCCCGTCCCATTGCCCCT	0.488000													26	42					0	0	0.004656	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147716	100147716	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:100147716C>T	ENST00000231461.5	-	5	1225	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	305					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CATTTAAATCCTTAGGGAAGG	0.373000													15	4					0	0	0.002450	0	0
DNAH8	1769	broad.mit.edu	37	6	38704979	38704979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:38704979C>T	ENST00000359357.3	+	4	502	c.248C>T	c.(247-249)tCt>tTt	p.S83F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S300F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S83F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGGAGAATCTGAAAAACAT	0.323000													40	10					0	0	0.008740	0	0
ATP8A2	51761	broad.mit.edu	37	13	26116179	26116179	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:26116179G>A	ENST00000381655.2	+	9	916	c.774G>A	c.(772-774)ggG>ggA	p.G258G	ATP8A2_ENST00000255283.8_Silent_p.G218G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	218					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTTAGATGGGAAAAGGTATT	0.363000													11	32					0	0	0.013537	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039512	55039512	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:55039512C>T	ENST00000370862.3	+	1	463	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	43					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGCGGTACCTGTGGAGGGA	0.542000													40	44					0	0	0.005524	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091421	19091421	+	RNA	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:19091421A>T	ENST00000365494.1	+	0	93																											gaagagaggtagcgttttctc	0.488000													37	338					0	0	0.014410	0	0
BTBD3	22903	broad.mit.edu	37	20	11903873	11903873	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:11903873C>T	ENST00000405977.1	+	5	1753	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	BTBD3_ENST00000254977.3_Silent_p.H315H|BTBD3_ENST00000378226.2_Silent_p.H376H|BTBD3_ENST00000399006.2_Silent_p.H315H			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	376										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGCGCTGTCACCGTTTCCAGT	0.512000													20	30					0	0	0.007413	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:56330089C>T	ENST00000288221.6	-	3	1287	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000													36	53					0	0	0.013726	0	0
RALY	22913	broad.mit.edu	37	20	32661653	32661653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:32661653C>T	ENST00000246194.3	+	5	860	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RALY_ENST00000375114.3_Intron|RALY_ENST00000493399.1_Intron	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	120						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGATTACTACCGGGACGACTT	0.572000													22	31					0	0	0.002780	0	0
FASLG	356	broad.mit.edu	37	1	172634863	172634863	+	Missense_Mutation	SNP	G	G	A	rs80358236		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:172634863G>A	ENST00000367721.2	+	4	737	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	185					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGTGATCAATGAAACTGGGCT	0.463000													39	37					0	0	0.004289	0	0
GATSL3	652968	broad.mit.edu	37	22	30683443	30683443	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:30683443G>A	ENST00000407689.3	-	3	420	c.291C>T	c.(289-291)atC>atT	p.I97I	RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.I97I	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						CCGAACGGGCGATCTTGGTGA	0.612000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	30					0	0	0.009535	0	0
CNOT1	23019	broad.mit.edu	37	16	58585169	58585169	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:58585169A>T	ENST00000317147.5	-	24	3541	c.3209T>A	c.(3208-3210)aTt>aAt	p.I1070N	CNOT1_ENST00000441024.2_Missense_Mutation_p.I1070N|CNOT1_ENST00000245138.4_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.I1065N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1070					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAGTATTAATAGAAGGCTA	0.303000													61	59					0	0	0.014410	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215660	50215660	+	Silent	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:50215660A>G	ENST00000284509.6	-	17	1815	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	ATP8B4_ENST00000559829.1_Silent_p.Y558Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	558					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCCTTTGGAATAAAGCTTTA	0.378000													13	20					0	0	0.002450	0	0
SLC38A9	153129	broad.mit.edu	37	5	54993677	54993677	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:54993677T>A	ENST00000539768.1	-	1	109	c.110A>T	c.(109-111)aAa>aTa	p.K37I	SLC38A9_ENST00000318672.3_Missense_Mutation_p.K37I|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000396865.2_Missense_Mutation_p.K37I|SLC38A9_ENST00000504880.1_5'UTR			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	37					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGCTTACCTTTTGGATCTTAG	0.313000													20	4					0	0	0.012319	0	0
DPF1	8193	broad.mit.edu	37	19	38709273	38709273	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:38709273G>A	ENST00000416611.1	-	5	582	c.459C>T	c.(457-459)gaC>gaT	p.D153D	DPF1_ENST00000456296.1_Silent_p.D153D|DPF1_ENST00000355526.4_Silent_p.D179D|DPF1_ENST00000414789.1_Silent_p.D97D|DPF1_ENST00000420980.2_Silent_p.D179D|DPF1_ENST00000412732.1_Silent_p.D97D			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	179					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACCTCGAGGTCATGCGGAA	0.552000													26	31					0	0	0.004656	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958679	57958679	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:57958679C>T	ENST00000311591.3	+	1	774	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AGACCTTCTCCACCTGCGCCT	0.567000													30	44					0	0	0.009535	0	0
WNK2	65268	broad.mit.edu	37	9	96080313	96080313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:96080313C>T	ENST00000427277.2	+	29	6632	c.5468C>T	c.(5467-5469)tCc>tTc	p.S1823F	WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000297954.4_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	113					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCTAGGTTCCTGTGGTCCA	0.597000													37	41					0	0	0.014410	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500791	27500791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27500791G>A	ENST00000296097.3	+	4	701	c.283G>A	c.(283-285)Gac>Aac	p.D95N	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.D95N|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.D79N	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	95	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAATTTACGACCAGCATGG	0.418000													26	36					0	0	0.004656	0	0
DBX2	440097	broad.mit.edu	37	12	45410267	45410267	+	Silent	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:45410267A>T	ENST00000332700.6	-	4	993	c.822T>A	c.(820-822)tcT>tcA	p.S274S		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGGACATGGAGAAGGGAAAC	0.493000													41	57					0	0	0.009718	0	0
AKAP1	8165	broad.mit.edu	37	17	55187450	55187450	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:55187450C>T	ENST00000337714.3	+	3	2012	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	AKAP1_ENST00000572557.1_Silent_p.F593F|AKAP1_ENST00000539273.1_Silent_p.F593F|AKAP1_ENST00000571629.1_Silent_p.F593F	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	593					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGAGAGCTTCCAAAATGCCC	0.562000													59	63					0	0	0.014410	0	0
RAD51B	5890	broad.mit.edu	37	14	68934942	68934942	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:68934942C>T	ENST00000487270.1	+	10	1059	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RAD51B_ENST00000487861.1_Silent_p.I337I|RAD51B_ENST00000488612.1_Silent_p.I337I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000390683.3_Silent_p.I337I|RAD51B_ENST00000471583.1_Silent_p.I337I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	337					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTACACCATCAAGGAGGAAG	0.438000								Direct reversal of damage					60	91					0	0	0.014410	0	0
NCAM1	4684	broad.mit.edu	37	11	113078697	113078697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:113078697G>A	ENST00000316851.7	+	6	859	c.859G>A	c.(859-861)Gat>Aat	p.D287N	NCAM1_ENST00000533760.1_Missense_Mutation_p.D179N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D296N	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	297	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGCGAGCAGGATGCGACCAT	0.532000													5	15					0	0	0.000602	0	0
PRRX1	5396	broad.mit.edu	37	1	170688913	170688913	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:170688913G>A	ENST00000239461.6	+	2	601	c.288G>A	c.(286-288)agG>agA	p.R96R	PRRX1_ENST00000497230.2_Silent_p.R96R|PRRX1_ENST00000367760.3_Silent_p.R96R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGCGAAGGAATAGGACAA	0.473000													16	23					0	0	0.004007	0	0
NF1	4763	broad.mit.edu	37	17	29483087	29483087	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:29483087C>T	ENST00000358273.4	+	2	530	c.147C>T	c.(145-147)taC>taT	p.Y49Y	NF1_ENST00000356175.3_Silent_p.Y49Y|NF1_ENST00000431387.4_Silent_p.Y49Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	49					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTCCAAATACAAGTTTTCTT	0.338000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	38					0	0	0.007413	0	0
KLK10	5655	broad.mit.edu	37	19	51518160	51518160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51518160G>A	ENST00000309958.3	-	6	945	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	KLK10_ENST00000391805.1_Missense_Mutation_p.L243F|KLK10_ENST00000358789.3_Missense_Mutation_p.L243F	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	243	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCCACGAGAGGATGCCTTGG	0.542000													27	32					0	0	0.006320	0	0
SNAP91	9892	broad.mit.edu	37	6	84290235	84290235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:84290235G>A	ENST00000428679.2	-	24	2826	c.2233C>T	c.(2233-2235)Cct>Tct	p.P745S	SNAP91_ENST00000520302.1_Missense_Mutation_p.P715S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P740S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P745S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P740S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P438S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P745S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P745S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P438S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	745					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCATTGCAGGACTGGGTGGT	0.453000													36	56					0	0	0.006999	0	0
LRP3	4037	broad.mit.edu	37	19	33698215	33698215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:33698215C>T	ENST00000253193.7	+	7	2249	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	683					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TTCAGGGCCACCCTTGCCCTC	0.706000													4	11					0	0	0.001168	0	0
FBXO43	286151	broad.mit.edu	37	8	101146506	101146506	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:101146506C>T	ENST00000428847.2	-	4	2077	c.1761G>A	c.(1759-1761)agG>agA	p.R587R		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	587					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AACCAGGTATCCTAGCCTGTG	0.478000													36	59					0	0	0.005524	0	0
C2orf78	388960	broad.mit.edu	37	2	74041328	74041328	+	Silent	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:74041328A>G	ENST00000409561.1	+	2	943	c.822A>G	c.(820-822)caA>caG	p.Q274Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	274										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGTCTTCTCAACCCATCACAG	0.463000													43	63					0	0	0.014410	0	0
DDIT3	1649	broad.mit.edu	37	12	57911162	57911162	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57911162A>C	ENST00000551116.1	-	3	364	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	DDIT3_ENST00000547303.1_Missense_Mutation_p.F10V|DDIT3_ENST00000346473.3_Missense_Mutation_p.F10V|DDIT3_ENST00000552740.1_Missense_Mutation_p.F33V	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	10					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						AGTGTCCCGAAGGAGAAAGGC	0.527000			T	FUS	liposarcoma								22	36					0	0	0.012319	0	0
CIB3	117286	broad.mit.edu	37	19	16280506	16280506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16280506C>T	ENST00000269878.4	-	3	182	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	45							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GTGGTATAGTCGAGGGGCACG	0.582000													16	19					0	0	0.006122	0	0
SYT15	83849	broad.mit.edu	37	10	46965118	46965118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:46965118G>A	ENST00000374323.3	-	5	1573	c.986C>T	c.(985-987)cCc>cTc	p.P329L	SYT15_ENST00000374325.3_Missense_Mutation_p.P276L|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.P276L|SYT15_ENST00000503753.1_Missense_Mutation_p.P276L			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	276	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AAACTCCGAGGGGGGCTGGGG	0.642000													14	105					0	0	0.004990	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416205	105416205	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105416205G>A	ENST00000333244.5	-	7	5702	c.5583C>T	c.(5581-5583)tcC>tcT	p.S1861S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1861						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)			CCCCCTGCATGGAGGGGAGGC	0.647000													92	135					0	0	0.014410	0	0
TJP3	27134	broad.mit.edu	37	19	3738999	3738999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:3738999G>A	ENST00000541714.2	+	13	1960	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	TJP3_ENST00000539908.2_Missense_Mutation_p.D464N|TJP3_ENST00000262968.9_Missense_Mutation_p.D533N|TJP3_ENST00000589378.1_Missense_Mutation_p.D509N|TJP3_ENST00000382008.3_Missense_Mutation_p.D514N|TJP3_ENST00000587686.1_Missense_Mutation_p.D519N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	514	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCGTGGCGACGTCTTCCA	0.672000													38	44					0	0	0.005524	0	0
CCDC173	129881	broad.mit.edu	37	2	170507017	170507017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:170507017C>T	ENST00000447353.1	-	7	1079	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TCTTTCTCTTCGTTTCTCCAT	0.348000													11	11					0	0	0.010729	0	0
MAMDC2	256691	broad.mit.edu	37	9	72785459	72785459	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:72785459G>A	ENST00000377182.4	+	11	2180	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	521	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTACTCAGGAGAAAAGAAACC	0.488000													24	39					0	0	0.005443	0	0
BEND4	389206	broad.mit.edu	37	4	42119579	42119579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:42119579C>T	ENST00000502486.1	-	6	2140	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	521										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAGACTTCATCCTGAGAAGCC	0.527000													9	11					0	0	0.006214	0	0
SNTN	132203	broad.mit.edu	37	3	63638372	63638372	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:63638372C>T	ENST00000343837.3	+	1	29	c.9C>T	c.(7-9)ggC>ggT	p.G3G		NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	3						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						GAATGGGTGGCTGTATGCACA	0.478000													9	23					0	0	0.004482	0	0
FAM150A	389658	broad.mit.edu	37	8	53454993	53454993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:53454993C>T	ENST00000358543.4	-	2	453	c.203G>A	c.(202-204)aGa>aAa	p.R68K	FAM150A_ENST00000523939.1_Missense_Mutation_p.R68K	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	68						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTTAGAGTCTCTTGGGAATAT	0.274000													12	10					0	0	0.013537	0	0
KLHL32	114792	broad.mit.edu	37	6	97587033	97587033	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:97587033T>A	ENST00000369261.4	+	11	2101	c.1738T>A	c.(1738-1740)Ttc>Atc	p.F580I	KLHL32_ENST00000544166.1_Missense_Mutation_p.F136I|KLHL32_ENST00000539200.1_Missense_Mutation_p.F511I|KLHL32_ENST00000536676.1_Missense_Mutation_p.F544I	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	580										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGAAGAAGTATTCTATGGGCC	0.413000													52	51					0	0	0.014410	0	0
SALL1	6299	broad.mit.edu	37	16	51174131	51174131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:51174131C>T	ENST00000440970.1	-	2	2142	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E668K|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	668					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTGAACTGCTCGGACATGAGC	0.592000													42	51					0	0	0.008740	0	0
PKN3	29941	broad.mit.edu	37	9	131475654	131475654	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:131475654C>T	ENST00000291906.4	+	8	1473	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	360					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTTTGTCATCCCACTGGAGC	0.652000													42	73					0	0	0.008740	0	0
PTPN13	5783	broad.mit.edu	37	4	87622856	87622856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:87622856G>A	ENST00000436978.1	+	7	1577	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.R366Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.R366Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.R366Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.R366Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	366						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TATCACACTCGAGAATTGCCC	0.433000													32	34					0	0	0.013726	0	0
ATP12A	479	broad.mit.edu	37	13	25281489	25281489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:25281489C>T	ENST00000218548.6	+	17	2762	c.2429C>T	c.(2428-2430)cCc>cTc	p.P810L	ATP12A_ENST00000381946.3_Missense_Mutation_p.P804L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	804					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAGCTGTGCCCCTTTCTGATC	0.498000													65	66					0	0	0.014410	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976640	47976640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:47976640G>A	ENST00000543600.1	-	2	625	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	PTCHD4_ENST00000339488.4_Nonsense_Mutation_p.Q213*			Q6ZW05	CF138_HUMAN	patched domain containing 4	213						integral to membrane	hedgehog receptor activity										GAGTAGAGCTGGAGTTCTTGA	0.522000													20	31					0	0	0.010504	0	0
CNGA3	1261	broad.mit.edu	37	2	99012414	99012414	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:99012414C>G	ENST00000393504.1	+	8	1198	c.781C>G	c.(781-783)Ctg>Gtg	p.L261V	CNGA3_ENST00000436404.2_Missense_Mutation_p.L243V|CNGA3_ENST00000272602.2_Missense_Mutation_p.L261V|CNGA3_ENST00000409937.1_Missense_Mutation_p.L265V	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	261					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCCCACCGACCTGGCTTACTT	0.517000													24	36					0	0	0.004656	0	0
RAVER1	125950	broad.mit.edu	37	19	10433932	10433932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10433932C>A	ENST00000293677.6	-	5	1099	c.1018G>T	c.(1018-1020)Gga>Tga	p.G340*		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	323	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGGAGGAGTCCCTTCCCCCGA	0.672000													14	30					1.5739e-10	1.6673e-10	0.004007	1	0
TBC1D3F	84218	broad.mit.edu	37	17	36288236	36288236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:36288236G>A	ENST00000539424.1	+	2	1747	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	TBC1D3F_ENST00000378174.5_Missense_Mutation_p.G108S|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.G108S|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.G108S			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	108						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GAACATCCGGGGCCCGATGTG	0.557000													99	1009					0	0	0.014410	0	0
PARP9	83666	broad.mit.edu	37	3	122274967	122274967	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122274967C>T	ENST00000462315.1	-	4	344	c.49_splice	c.e4-1	p.E17_splice	PARP9_ENST00000360356.2_Splice_Site_p.E52_splice|PARP9_ENST00000471785.1_Splice_Site_p.E17_splice|PARP9_ENST00000477522.2_Splice_Site_p.E17_splice|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	52					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GAGCACCAGTCTCTGGAAAAG	0.333000													9	13					0	0	0.004482	0	0
ADCY8	114	broad.mit.edu	37	8	131859670	131859670	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:131859670C>T	ENST00000286355.5	-	11	4594	c.2502_splice	c.e11+1	p.E834_splice	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	834					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAATAAATACCTCTGGGTAGG	0.423000										HNSCC(32;0.087)			13	30					0	0	0.001855	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066504	46066504	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:46066504G>A	ENST00000334670.8	+	1	174	c.129G>A	c.(127-129)ctG>ctA	p.L43L	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	43	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCCCTCCCTGAGCCTGGTCT	0.711000													18	24					0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126372430	126372430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126372430G>A	ENST00000394329.3	+	9	10272	c.10259G>A	c.(10258-10260)gGa>gAa	p.G3420E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1718E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3420	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCCAATAGGAACTCATGTG	0.463000													33	52					0	0	0.004289	0	0
APC	324	broad.mit.edu	37	5	112174607	112174607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:112174607G>T	ENST00000457016.1	+	16	3696	c.3316G>T	c.(3316-3318)Gga>Tga	p.G1106*	APC_ENST00000508376.2_Nonsense_Mutation_p.G1106*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.G1106*			P25054	APC_HUMAN	adenomatous polyposis coli	1106	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1106*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTCACGGGGAGCCAATGG	0.393000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			18	6					1.67942e-08	1.77436e-08	0.006122	1	0
UNC45B	146862	broad.mit.edu	37	17	33513465	33513465	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33513465C>T	ENST00000268876.5	+	20	2780	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	UNC45B_ENST00000394570.2_Silent_p.L893L|UNC45B_ENST00000591048.1_Silent_p.L814L|UNC45B_ENST00000378449.1_Silent_p.L814L|UNC45B_ENST00000433649.1_Silent_p.L893L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	895					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCTGGAGATCCTGACTGTGGT	0.537000													26	33					0	0	0.003330	0	0
KHK	3795	broad.mit.edu	37	2	27317674	27317674	+	Silent	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27317674G>T	ENST00000260598.5	+	3	694	c.216G>T	c.(214-216)ctG>ctT	p.L72L	KHK_ENST00000490823.1_Intron|KHK_ENST00000260599.6_Intron	NM_006488.2	NP_006479.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	72					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGCTTCCTGGTGGCCGACT	0.622000													20	31					5.26018e-13	5.58719e-13	0.012319	1	0
RGPD4	285190	broad.mit.edu	37	2	108488174	108488174	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:108488174C>T	ENST00000408999.3	+	20	3791	c.3714C>T	c.(3712-3714)ccC>ccT	p.P1238P	RGPD4_ENST00000354986.4_Silent_p.P1238P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1238					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAATAAAACCCAATCCTGAAA	0.418000													114	148					0	0	0.014410	0	0
DIDO1	11083	broad.mit.edu	37	20	61537180	61537180	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:61537180G>A	ENST00000370371.4	-	6	2002	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	DIDO1_ENST00000354665.4_Silent_p.I549I|DIDO1_ENST00000370368.1_Silent_p.I549I|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000395343.1_Intron	NM_022105.4	NP_071388.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCCAGGGGATGGCTATCC	0.562000													37	46					0	0	0.005524	0	0
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:97165184G>A	ENST00000310865.3	-	0	754									neuralized E3 ubiquitin protein ligase 3																		CTGGCTGTGGGATCTGAGGCA	0.632000													31	40					0	0	0.010818	0	0
NEFM	4741	broad.mit.edu	37	8	24776032	24776032	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:24776032G>A	ENST00000221166.5	+	3	3446	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	NEFM_ENST00000518131.1_Silent_p.E670E|NEFM_ENST00000433454.2_Silent_p.E512E|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.E849E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	888	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCATGAAGAGACCTTTGAGG	0.418000													59	83					0	0	0.014410	0	0
POLG2	11232	broad.mit.edu	37	17	62487001	62487001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:62487001G>A	ENST00000539111.2	-	4	948	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTTTCCCCAGGGAAAATTGTA	0.403000													22	28					0	0	0.014323	0	0
KRT35	3886	broad.mit.edu	37	17	39637025	39637025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:39637025C>T	ENST00000246639.2	-	1	367	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	KRT35_ENST00000393989.1_Missense_Mutation_p.A109T			Q92764	KRT35_HUMAN	keratin 35	109	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGGTAGCCGGCCAGGCGGTCG	0.632000													27	51					0	0	0.007291	0	0
SOS1	6654	broad.mit.edu	37	2	39285890	39285890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:39285890G>A	ENST00000426016.1	-	4	355	c.269C>T	c.(268-270)gCc>gTc	p.A90V	SOS1_ENST00000395038.2_Missense_Mutation_p.A90V|SOS1_ENST00000402219.2_Missense_Mutation_p.A90V|SOS1_ENST00000428721.2_Missense_Mutation_p.A33V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	90					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGCTGATTGGGCATCAGCTAT	0.338000									Noonan syndrome				31	22					0	0	0.009535	0	0
OR6C2	341416	broad.mit.edu	37	12	55846618	55846618	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55846618C>T	ENST00000322678.1	+	1	621	c.621C>T	c.(619-621)atC>atT	p.I207I	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CACTCATTATCACCCTAGTTT	0.393000													44	66					0	0	0.010771	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695066	219695066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219695066C>T	ENST00000439262.2	-	4	288	c.193G>A	c.(193-195)Gag>Aag	p.E65K	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.E90K|PRKAG3_ENST00000529249.1_Missense_Mutation_p.E90K	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	90					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTGGCCTCCAGCCCGGTG	0.622000													19	28					0	0	0.008871	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430692	67430692	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67430692G>A	ENST00000349015.3	-	10	1590	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ALDH3B2_ENST00000530069.1_Silent_p.L384L	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	384					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ACGCTCACAGGAGGGTGCAGC	0.587000													71	86					0	0	0.014410	0	0
DGCR14	8220	broad.mit.edu	37	22	19121953	19121953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:19121953G>A	ENST00000252137.6	-	10	1230	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	396					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CTGTAGGGCTGGCGACATGGC	0.672000													22	41					0	0	0.012319	0	0
ZNF682	91120	broad.mit.edu	37	19	20117476	20117476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:20117476G>A	ENST00000397165.2	-	4	995	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF682_ENST00000397162.1_Missense_Mutation_p.H247Y|ZNF682_ENST00000595736.1_Missense_Mutation_p.H203Y|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.H247Y|ZNF682_ENST00000597972.1_Missense_Mutation_p.H285Y	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTCCTGTATGAATTTTCTTA	0.398000													34	37					0	0	0.012213	0	0
INPP5E	56623	broad.mit.edu	37	9	139324151	139324151	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:139324151G>A	ENST00000371712.3	-	10	2313	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	637						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGATGGTGCTGGAGTTCTGAC	0.463000													99	126					0	0	0.014410	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489468	133489468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:133489468G>A	ENST00000409261.1	-	17	5658	c.5285C>T	c.(5284-5286)tCt>tTt	p.S1762F	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1762F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S443F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S443F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1762							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTCATGGAAGAAACTGCAGA	0.587000													38	49					0	0	0.007835	0	0
CPEB1	64506	broad.mit.edu	37	15	83226583	83226583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:83226583G>A	ENST00000563800.1	-	4	2339	c.614C>T	c.(613-615)tCt>tTt	p.S205F	CPEB1_ENST00000568757.1_Missense_Mutation_p.S103F|CPEB1_ENST00000568128.1_Missense_Mutation_p.S178F|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000562019.1_Missense_Mutation_p.S178F|CPEB1_ENST00000450751.2_Missense_Mutation_p.S103F|CPEB1_ENST00000423133.2_Missense_Mutation_p.S103F|CPEB1_ENST00000398591.2_Missense_Mutation_p.S103F|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.S181F|CPEB1_ENST00000564522.1_Missense_Mutation_p.S103F			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	178	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTAGATCGAGAGTCCAGGAT	0.537000													34	41					0	0	0.012213	0	0
OR9K2	441639	broad.mit.edu	37	12	55524300	55524300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:55524300G>A	ENST00000305377.5	+	1	836	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGTCCACAGTTCTAAAGAT	0.368000													25	48					0	0	0.005443	0	0
NUP210L	91181	broad.mit.edu	37	1	154002386	154002386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:154002386C>T	ENST00000368559.3	-	28	3912	c.3841G>A	c.(3841-3843)Gaa>Aaa	p.E1281K	NUP210L_ENST00000368553.1_Missense_Mutation_p.E214K|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1281K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1281						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCTGTACTTCATCAGAGAGT	0.403000													21	30					0	0	0.003330	0	0
STAT4	6775	broad.mit.edu	37	2	192012849	192012849	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:192012849G>A	ENST00000392320.2	-	2	395	c.81C>T	c.(79-81)ccC>ccT	p.P27P	STAT4_ENST00000409995.1_Silent_p.P27P|STAT4_ENST00000358470.4_Silent_p.P27P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	27					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAATTTCCATGGGAAAGTTGT	0.393000													30	30					0	0	0.007291	0	0
MAFB	9935	broad.mit.edu	37	20	39316830	39316830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:39316830C>T	ENST00000373313.2	-	1	1050	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	MAFB_ENST00000396967.1_Missense_Mutation_p.V221M	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	221					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				AGCTCGCGCACGGACATGGAC	0.726000			T	IGH@	MM								5	10					0	0	0.000602	0	0
DSG1	1828	broad.mit.edu	37	18	28916319	28916319	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:28916319C>T	ENST00000257192.4	+	9	1220	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	336	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTCTAGCCCTTAGATTATG	0.289000													8	16					0	0	0.003080	0	0
MEIS1	4211	broad.mit.edu	37	2	66691305	66691305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:66691305C>T	ENST00000488550.1	+	7	994	c.695C>T	c.(694-696)tCc>tTc	p.S232F	MEIS1_ENST00000398506.2_Missense_Mutation_p.S230F|MEIS1_ENST00000444274.2_Missense_Mutation_p.S200F|MEIS1_ENST00000495021.2_Missense_Mutation_p.S167F|MEIS1_ENST00000560281.2_Missense_Mutation_p.S232F|MEIS1_ENST00000272369.9_Missense_Mutation_p.S232F|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.S232F			O00470	MEIS1_HUMAN	Meis homeobox 1	232	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCAGGCCCTTCCAGCGGTGGC	0.493000													5	7					0	0	0.000602	0	0
ZNF782	158431	broad.mit.edu	37	9	99581952	99581952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:99581952G>A	ENST00000481138.1	-	6	1014	c.353C>T	c.(352-354)tCa>tTa	p.S118L	ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGGTTTTCCTGAAATTTCTTG	0.403000													16	28					0	0	0.004007	0	0
NR1H2	7376	broad.mit.edu	37	19	50880885	50880885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:50880885C>T	ENST00000253727.5	+	3	258	c.23C>T	c.(22-24)tCc>tTc	p.S8F	NR1H2_ENST00000599105.1_Missense_Mutation_p.S8F|NR1H2_ENST00000593926.1_Missense_Mutation_p.S8F|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.S8F|NR1H2_ENST00000598168.1_Missense_Mutation_p.S8F	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	8					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCACGAGTTCCCTGGATACC	0.567000													16	22					0	0	0.007413	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757836	106757836	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:106757836C>T	ENST00000390611.2	-	0	194																											GCTGACGGATCCAGCTCACAC	0.547000													12	37					0	0	0.013537	0	0
DCHS1	8642	broad.mit.edu	37	11	6662256	6662256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6662256G>A	ENST00000299441.3	-	2	1000	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	197	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGACCGGGGCGTGTCTCC	0.597000													31	34					0	0	0.003271	0	0
NES	10763	broad.mit.edu	37	1	156640816	156640816	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156640816G>T	ENST00000368223.3	-	4	3296	c.3164C>A	c.(3163-3165)gCt>gAt	p.A1055D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1055	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTGGGGAGCCTGGAGGCC	0.662000													44	38					9.39024e-22	1.00544e-21	0.009718	1	0
PBRM1	55193	broad.mit.edu	37	3	52620643	52620643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:52620643C>T	ENST00000356770.4	-	19	3091	c.3089G>A	c.(3088-3090)cGg>cAg	p.R1030Q	PBRM1_ENST00000409767.1_Missense_Mutation_p.R1077Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1077Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1062Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1037Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1062Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1037Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1062Q			Q86U86	PB1_HUMAN	polybromo 1	1062	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGAATACCGTGATTCACA	0.448000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								25	34					0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	16	71012907	71012907	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:71012907C>T	ENST00000393567.2	-	30	4698	c.4548G>A	c.(4546-4548)agG>agA	p.R1516R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1516										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGTTTTTCCTGGCTTGAT	0.433000													14	31					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9077809	9077809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9077809C>T	ENST00000397910.4	-	3	9840	c.9637G>A	c.(9637-9639)Gaa>Aaa	p.E3213K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3214	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGGGTTCCTTGGAGCTC	0.478000													78	97					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23894992	23894992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:23894992C>T	ENST00000355349.3	-	20	2360	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	733	Myosin head-like.		G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGAACTGTCCCTCAGGGAT	0.542000													31	50					0	0	0.003755	0	0
LPA	4018	broad.mit.edu	37	6	160968946	160968946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:160968946C>T	ENST00000447678.1	-	33	5299	c.5179G>A	c.(5179-5181)Gga>Aga	p.G1727R	LPA_ENST00000316300.5_Missense_Mutation_p.G1727R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4235	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCCCGGTATCCTTTCCCATTC	0.488000													20	34					0	0	0.008871	0	0
ZFHX3	463	broad.mit.edu	37	16	72828134	72828134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:72828134G>A	ENST00000268489.5	-	9	9119	c.8447C>T	c.(8446-8448)cCc>cTc	p.P2816L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1902L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2816					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGACATGGAGGGGCTTTCAAA	0.463000													51	47					0	0	0.014410	0	0
INPP5A	3632	broad.mit.edu	37	10	134563050	134563050	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:134563050G>A	ENST00000368594.3	+	10	1039	c.762G>A	c.(760-762)acG>acA	p.T254T	INPP5A_ENST00000368593.3_Silent_p.T254T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	254					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCATGCAGACGGTCCGGGCCG	0.622000													18	36					0	0	0.007413	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645673	60645673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:60645673C>T	ENST00000400316.4	+	17	4408	c.2627C>T	c.(2626-2628)gCc>gTc	p.A876V	PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1388V	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1388					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						GCCGTGGAAGCCGTGCGCAAC	0.642000													8	6					0	0	0.010729	0	0
ZNF205	7755	broad.mit.edu	37	16	3168912	3168912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:3168912C>T	ENST00000382192.3	+	6	696	c.491C>T	c.(490-492)cCc>cTc	p.P164L	ZNF205_ENST00000219091.4_Missense_Mutation_p.P164L|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	164	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCAGGCTTTCCCTTCAGCAGG	0.642000													62	63					0	0	0.014410	0	0
NUP210	23225	broad.mit.edu	37	3	13377097	13377097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:13377097G>A	ENST00000254508.5	-	28	3782	c.3700C>T	c.(3700-3702)Ccg>Tcg	p.P1234S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1234					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P1234S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TACTGTGACGGGAGTCGGATC	0.612000													18	35					0	0	0.008871	0	0
HYDIN	54768	broad.mit.edu	37	16	71015379	71015379	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:71015379G>A	ENST00000393567.2	-	29	4575	c.4425C>T	c.(4423-4425)atC>atT	p.I1475I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1475										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGGCGATCTGTATCT	0.478000													32	61					0	0	0.011902	0	0
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274000													47	50					0	0	0.014410	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:94088518G>A	ENST00000553484.1	+	31	5159	c.5005G>A	c.(5005-5007)Gaa>Aaa	p.E1669K	UNC79_ENST00000256339.4_Missense_Mutation_p.E1470K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1647K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1647K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000													37	43					0	0	0.003271	0	0
AGXT	189	broad.mit.edu	37	2	241808730	241808730	+	Silent	SNP	G	G	A	rs145419586		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:241808730G>A	ENST00000307503.3	+	2	696	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	103					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCTGGTTGGGGCCAATGGCA	0.642000													47	61					0	0	0.014410	0	0
DNAAF1	123872	broad.mit.edu	37	16	84189324	84189324	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:84189324C>T	ENST00000378553.5	+	5	835	c.711C>T	c.(709-711)atC>atT	p.I237I	DNAAF1_ENST00000334315.5_Silent_p.I237I	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	237					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCCGGAGATCCTGAGCATTC	0.433000													22	34					0	0	0.012319	0	0
DPF1	8193	broad.mit.edu	37	19	38709272	38709272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:38709272G>A	ENST00000416611.1	-	5	583	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	DPF1_ENST00000456296.1_Missense_Mutation_p.L154F|DPF1_ENST00000355526.4_Missense_Mutation_p.L180F|DPF1_ENST00000414789.1_Missense_Mutation_p.L98F|DPF1_ENST00000420980.2_Missense_Mutation_p.L180F|DPF1_ENST00000412732.1_Missense_Mutation_p.L98F			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	180					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCACCTCGAGGTCATGCGGA	0.557000													26	32					0	0	0.004656	0	0
VWA3B	200403	broad.mit.edu	37	2	98744845	98744845	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:98744845G>A	ENST00000477737.1	+	6	1050	c.846G>A	c.(844-846)aaG>aaA	p.K282K	VWA3B_ENST00000451075.2_Silent_p.K132K|VWA3B_ENST00000435344.1_Silent_p.K282K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	282										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTTCTAAAGGATCTGAGTG	0.527000													21	28					0	0	0.002780	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621517	74621517	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:74621517G>A	ENST00000156626.7	-	9	1897	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	566					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGAAGTCATGGTTTATGTAAA	0.493000													23	34					0	0	0.003330	0	0
FYB	2533	broad.mit.edu	37	5	39202457	39202457	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:39202457C>T	ENST00000351578.6	-	2	796	c.606G>A	c.(604-606)ccG>ccA	p.P202P	FYB_ENST00000540520.1_Silent_p.P212P|FYB_ENST00000505428.1_Silent_p.P202P|FYB_ENST00000512982.1_Silent_p.P202P|FYB_ENST00000515010.1_Silent_p.P202P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	202					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TACTTAGGGGCGGCTTCTGGC	0.522000													41	11					0	0	0.007835	0	0
MYH7	4625	broad.mit.edu	37	14	23899827	23899827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:23899827G>A	ENST00000355349.3	-	11	1103	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	314	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCTCCTTGGGAGATGAATGC	0.567000													17	27					0	0	0.012319	0	0
PRIM2	5558	broad.mit.edu	37	6	57246869	57246869	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:57246869A>C	ENST00000607273.1	+	7	683	c.596A>C	c.(595-597)aAa>aCa	p.K199T	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	199					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CGAGGAAGGAAAGTCTATTTG	0.408000													12	45					0	0	0.013537	0	0
TACC2	10579	broad.mit.edu	37	10	123848060	123848060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:123848060G>A	ENST00000369005.1	+	5	5867	c.5527G>A	c.(5527-5529)Gat>Aat	p.D1843N	TACC2_ENST00000334433.3_Missense_Mutation_p.D1843N|TACC2_ENST00000453444.2_Missense_Mutation_p.D1843N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1843N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1843N|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1843						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGAGTCATGGATAAAGTCAC	0.458000													15	26					0	0	0.004990	0	0
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:39626980G>A	ENST00000265708.4	-	12	1246	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	ADAM2_ENST00000521880.1_Silent_p.F381F|ADAM2_ENST00000347580.4_Silent_p.F362F|ADAM2_ENST00000379853.2_Silent_p.F255F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443000													16	26					0	0	0.006122	0	0
NTRK1	4914	broad.mit.edu	37	1	156849090	156849090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:156849090G>A	ENST00000368196.3	+	14	2084	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	NTRK1_ENST00000524377.1_Missense_Mutation_p.G661E|NTRK1_ENST00000392302.2_Missense_Mutation_p.G625E|NTRK1_ENST00000358660.3_Missense_Mutation_p.G658E	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	661	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGGGCCAGGGACTGGTGGTC	0.587000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			32	38					0	0	0.010818	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	24					0	0	0.000602	0	0
LCP1	3936	broad.mit.edu	37	13	46721144	46721144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:46721144C>T	ENST00000398576.2	-	13	1461	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	LCP1_ENST00000323076.2_Missense_Mutation_p.G358E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	358	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTTGGGGTTCCCTCGGACAAC	0.542000			T	BCL6	NHL								38	44					0	0	0.004878	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695067	219695067	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219695067C>T	ENST00000439262.2	-	4	287	c.192G>A	c.(190-192)ctG>ctA	p.L64L	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Silent_p.L89L|PRKAG3_ENST00000529249.1_Silent_p.L89L	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	89					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTGGCCTCCAGCCCGGTGG	0.617000													18	29					0	0	0.007413	0	0
CNTN4	152330	broad.mit.edu	37	3	2928860	2928860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:2928860G>A	ENST00000397461.1	+	9	1276	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CNTN4_ENST00000418658.1_Missense_Mutation_p.E298K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E298K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E79K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	298	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGTGTAGCTGAAAATTCCAG	0.378000													7	17					0	0	0.003080	0	0
SFRP2	6423	broad.mit.edu	37	4	154702656	154702656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:154702656C>T	ENST00000274063.4	-	3	1119	c.835G>A	c.(835-837)Ggg>Agg	p.G279R		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	279	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCTCTGCCCCTTCTGCCAC	0.612000													23	23					0	0	0.003330	0	0
RBP4	5950	broad.mit.edu	37	10	95360699	95360699	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:95360699G>A	ENST00000371467.1	-	2	406	c.87C>T	c.(85-87)gtC>gtT	p.V29V	RBP4_ENST00000371464.3_Silent_p.V29V|RBP4_ENST00000371469.2_Silent_p.V27V|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	29					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGTTCTCCTTGACTCGGAAGC	0.716000													14	22					0	0	0.002450	0	0
USP4	7375	broad.mit.edu	37	3	49348150	49348150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49348150G>A	ENST00000351842.4	-	7	724	c.716C>T	c.(715-717)tCg>tTg	p.S239L	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.S286L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	286					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACAATTATACGAAGCAGAAAA	0.468000													22	20					0	0	0.002780	0	0
BANK1	55024	broad.mit.edu	37	4	102791789	102791789	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:102791789G>A	ENST00000504592.1	+	9	1264	c.846G>A	c.(844-846)gaG>gaA	p.E282E	BANK1_ENST00000508653.1_Silent_p.E164E|BANK1_ENST00000428908.1_Silent_p.E164E|BANK1_ENST00000444316.2_Silent_p.E267E|BANK1_ENST00000322953.4_Silent_p.E297E			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	297	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATTCAGGAGAGAGTTTGTGCC	0.378000													12	16					0	0	0.010729	0	0
SPATA17	128153	broad.mit.edu	37	1	217975134	217975134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:217975134C>T	ENST00000366933.4	+	9	1002	c.947C>T	c.(946-948)cCt>cTt	p.P316L	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	316						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAGTATGGTCCTATTTCTTAC	0.294000													12	13					0	0	0.003163	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122023	43122023	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:43122023G>A	ENST00000344697.2	-	2	1246	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	GTDC2_ENST00000441964.1_Silent_p.L301L	NM_032806.4	NP_116195.2																					GCCTCATTCAGAATGAGTCTG	0.552000													25	22					0	0	0.003330	0	0
RNLS	55328	broad.mit.edu	37	10	90034757	90034757	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:90034757C>T	ENST00000371947.3	-	7	2248	c.909G>A	c.(907-909)gcG>gcA	p.A303A	RNLS_ENST00000437752.1_Silent_p.A220A	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGGGGCTCTTCGCACATCCTA	0.448000													17	31					0	0	0.010504	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559541	129559541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:129559541C>T	ENST00000422113.2	-	9	2505	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D265N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	727						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTTTCCCATCGTAAATATCC	0.468000													23	40					0	0	0.004656	0	0
DNAH17	8632	broad.mit.edu	37	17	76455104	76455104	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:76455104G>A	ENST00000389840.5	-	61	9922	c.9798C>T	c.(9796-9798)tcC>tcT	p.S3266S	DNAH17_ENST00000585328.1_Silent_p.S3275S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTGATCCGGGACAGCTTCT	0.582000													38	51					0	0	0.003755	0	0
ABCG1	9619	broad.mit.edu	37	21	43693414	43693414	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:43693414G>A	ENST00000398437.1	+	5	992	c.842_splice	c.e5-1	p.E282_splice	ABCG1_ENST00000340588.4_Splice_Site_p.E244_splice|ABCG1_ENST00000347800.2_Splice_Site_p.E133_splice|ABCG1_ENST00000398449.3_Splice_Site_p.E136_splice|ABCG1_ENST00000398457.2_Splice_Site_p.E138_splice|ABCG1_ENST00000361802.2_Splice_Site_p.E136_splice|ABCG1_ENST00000343687.3_Splice_Site_p.E147_splice|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	136	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTTCTGCAGGGAGACGGGCAT	0.667000													50	56					0	0	0.014410	0	0
HDAC3	8841	broad.mit.edu	37	5	141004874	141004874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:141004874G>A	ENST00000305264.3	-	14	1197	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_5'UTR	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	373					anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTGGACACTAGGTGCATGGTT	0.502000													91	20					0	0	0.014410	0	0
PLCL2	23228	broad.mit.edu	37	3	17053118	17053118	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:17053118C>T	ENST00000418129.2	+	2	2367	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	PLCL2_ENST00000396755.2_Silent_p.I634I|PLCL2_ENST00000432376.1_Silent_p.I634I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	760	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACATTAAAATCATCAGTGGGC	0.488000													12	18					0	0	0.010729	0	0
INPPL1	3636	broad.mit.edu	37	11	71939529	71939529	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:71939529C>T	ENST00000298229.2	+	3	588	c.384C>T	c.(382-384)gaC>gaT	p.D128D	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	128					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACCGGATGACCGGGATGCCT	0.647000													28	62					0	0	0.007291	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478346	14478346	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:14478346G>A	ENST00000581457.1	-	0	1562					NR_024076.1																						ATGTTGGAAGGAGACATGGAT	0.498000													11	10					0	0	0.008291	0	0
MATR3	9782	broad.mit.edu	37	5	138651821	138651821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:138651821C>T	ENST00000394800.2	+	9	1622	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	MATR3_ENST00000394805.3_Missense_Mutation_p.P358L|MATR3_ENST00000502929.1_Missense_Mutation_p.P358L|MATR3_ENST00000503811.1_Missense_Mutation_p.P70L|MATR3_ENST00000510056.1_Missense_Mutation_p.P358L|MATR3_ENST00000504203.1_Missense_Mutation_p.P20L|MATR3_ENST00000502499.1_Missense_Mutation_p.P20L|MATR3_ENST00000361059.2_Missense_Mutation_p.P358L|MATR3_ENST00000509990.1_Missense_Mutation_p.P358L			P43243	MATR3_HUMAN	matrin 3	358						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCTGGGACCTCCACCTCCC	0.413000													37	9					0	0	0.007835	0	0
ALB	213	broad.mit.edu	37	4	74276095	74276095	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:74276095C>A	ENST00000295897.4	+	6	771	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K	ALB_ENST00000503124.1_Missense_Mutation_p.Q78K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.Q113K|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.Q228K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	228	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGCCAGTCTCCAAAAATTTGG	0.363000													31	43					2.49534e-26	2.67662e-26	0.010818	1	0
TTN	7273	broad.mit.edu	37	2	179469891	179469891	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179469891T>A	ENST00000589042.1	-	280	54237	c.54013A>T	c.(54013-54015)Act>Tct	p.T18005S	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9065S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9132S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T16364S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T15437S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8940S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16364	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATTACAGTTTCATTTTTG	0.468000													27	23					0	0	0.004656	0	0
LRP1B	53353	broad.mit.edu	37	2	141777574	141777574	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:141777574C>T	ENST00000389484.3	-	12	2858	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	629					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCTTTTTCCAGCCTGGCCA	0.428000										TSP Lung(27;0.18)			38	45					0	0	0.004289	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895792	59895792	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:59895792T>A	ENST00000256858.6	+	8	1657	c.1409T>A	c.(1408-1410)cTa>cAa	p.L470Q	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.L470Q			Q9P260	K1468_HUMAN	KIAA1468	470							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCTTCTTCTCTATCAAGTAAA	0.358000													13	16					0	0	0.001855	0	0
EPHA7	2045	broad.mit.edu	37	6	93956676	93956676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:93956676G>A	ENST00000369303.4	-	15	2744	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	854	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R854C(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTGGTAAACGATAACCTTCT	0.393000													16	29					0	0	0.003163	0	0
GON4L	54856	broad.mit.edu	37	1	155742989	155742989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155742989G>A	ENST00000437809.1	-	18	2485	c.2363C>T	c.(2362-2364)cCc>cTc	p.P788L	GON4L_ENST00000368331.1_Missense_Mutation_p.P788L|GON4L_ENST00000361040.5_Missense_Mutation_p.P788L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.P788L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	788					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCAAACAGGGAAATTCATT	0.408000													17	30					0	0	0.006122	0	0
EP300	2033	broad.mit.edu	37	22	41572331	41572331	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:41572331C>T	ENST00000263253.7	+	30	6079	c.4860C>T	c.(4858-4860)ccC>ccT	p.P1620P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1620	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCTCATCCCCTGCGATCTGA	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				40	74					0	0	0.007835	0	0
TECTA	7007	broad.mit.edu	37	11	121059869	121059869	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121059869G>A	ENST00000392793.1	+	22	6514	c.6243G>A	c.(6241-6243)agG>agA	p.R2081R	TECTA_ENST00000264037.2_Silent_p.R2081R			O75443	TECTA_HUMAN	tectorin alpha	2081					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)		GACCTATTAGGAGAAAAAGTA	0.428000													12	18					0	0	0.010729	0	0
CES3	23491	broad.mit.edu	37	16	67006373	67006373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67006373G>A	ENST00000303334.4	+	11	1477	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	CES3_ENST00000543856.1_Missense_Mutation_p.G108E|CES3_ENST00000394037.1_Missense_Mutation_p.G469E	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	469						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGTGTTCGGAGGTCCCTTC	0.572000													50	74					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418242	105418242	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105418242G>A	ENST00000333244.5	-	7	3665	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1182						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)			CCGAGGCCTCGATGGACTTGC	0.597000													46	139					0	0	0.014410	0	0
GPR32	2854	broad.mit.edu	37	19	51274067	51274067	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51274067C>T	ENST00000270590.4	+	1	347	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	70						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGACTGTCTTCCGTATGGCAC	0.572000													29	32					0	0	0.003755	0	0
ACVR1B	91	broad.mit.edu	37	12	52370179	52370179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:52370179C>T	ENST00000257963.4	+	3	477	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	ACVR1B_ENST00000541224.1_Missense_Mutation_p.P134S|ACVR1B_ENST00000542485.1_Missense_Mutation_p.P82S|ACVR1B_ENST00000426655.2_Missense_Mutation_p.P134S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P134S	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	134					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CATCGCCGGCCCGGTGTTCCT	0.537000													31	51					0	0	0.009535	0	0
SNHG12	85028	broad.mit.edu	37	1	28907033	28907033	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:28907033C>T	ENST00000488745.1	-	0	1100				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA																							TGTTCTGTCCCACCAGGCAGC	0.522000													18	40					0	0	0.008871	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:87738790C>T	ENST00000320005.5	-	3	354	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000													109	140					0	0	0.014410	0	0
PSG9	5678	broad.mit.edu	37	19	43772076	43772076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:43772076C>T	ENST00000244293.7	-	2	356	c.290G>A	c.(289-291)gGa>gAa	p.G97E	PSG9_ENST00000593948.1_Missense_Mutation_p.G97E|PSG9_ENST00000291752.5_Missense_Mutation_p.G97E|PSG9_ENST00000443718.3_Missense_Mutation_p.G97E|PSG9_ENST00000418820.2_Missense_Mutation_p.G97E|PSG9_ENST00000270077.3_Missense_Mutation_p.G97E|PSG9_ENST00000596730.1_Missense_Mutation_p.G97E			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	97	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGTTTCTCTTCCACTGTATGC	0.428000													80	130					0	0	0.014410	0	0
WDR96	80217	broad.mit.edu	37	10	105903397	105903397	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:105903397C>T	ENST00000357060.3	-	32	4060	c.3944_splice	c.e32-1	p.R1315_splice	WDR96_ENST00000428666.1_Splice_Site_p.R1287_splice	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1315								p.R1315R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTGGAAATCCTGGTATTAC	0.418000													17	18					0	0	0.004007	0	0
FAH	2184	broad.mit.edu	37	15	80473403	80473403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:80473403C>T	ENST00000539156.1	+	12	3110	c.872C>T	c.(871-873)tCc>tTc	p.S291F	FAH_ENST00000261755.5_Missense_Mutation_p.S361F|FAH_ENST00000407106.1_Missense_Mutation_p.S361F|FAH_ENST00000561421.1_Missense_Mutation_p.S361F			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	361					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTTCGGCTCCATGTTGGAA	0.502000									Tyrosinemia, type 1				26	24					0	0	0.007291	0	0
AADACL4	343066	broad.mit.edu	37	1	12711318	12711318	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:12711318C>T	ENST00000376221.1	+	2	345	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	115						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCGAGGCATCATCTTCTACC	0.577000													27	5					0	0	0.006320	0	0
ZNF99	7652	broad.mit.edu	37	19	22941701	22941701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:22941701C>T	ENST00000397104.3	-	5	736	c.737G>A	c.(736-738)gGa>gAa	p.G246E	ZNF99_ENST00000596209.1_Missense_Mutation_p.G337E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTTTCCAGTATGAAT	0.373000													14	16					0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71444066	71444066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:71444066G>A	ENST00000304743.2	+	6	1458	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PCNX_ENST00000439984.3_Missense_Mutation_p.E338K|PCNX_ENST00000238570.5_Missense_Mutation_p.E338K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	338						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATCTGGGGAATTTCAGCT	0.423000													29	36					0	0	0.008361	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303315	151303315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:151303315C>T	ENST00000370323.4	-	4	1094	c.778G>A	c.(778-780)Gag>Aag	p.E260K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E260K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	260	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGTGCTCCATCCCATCA	0.532000													45	6					0	0	0.010771	0	0
NRBP1	29959	broad.mit.edu	37	2	27664672	27664672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:27664672C>T	ENST00000233557.3	+	19	2433	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	NRBP1_ENST00000379852.3_Missense_Mutation_p.S534F|NRBP1_ENST00000379863.3_Missense_Mutation_p.S542F			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	534					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTCACCGTCTCCTCTTAGAGC	0.577000													64	54					0	0	0.014410	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975623	116975623	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:116975623T>G	ENST00000355044.3	+	9	1643	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	506						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATATGAAGTTAACACTAAG	0.303000													13	15					0	0	0.002450	0	0
TTLL2	83887	broad.mit.edu	37	6	167754748	167754748	+	Missense_Mutation	SNP	C	C	T	rs148357898		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:167754748C>T	ENST00000239587.5	+	3	1448	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	454					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGACTGTCTTCCTTATGATTC	0.493000													26	38					0	0	0.004656	0	0
TFB1M	51106	broad.mit.edu	37	6	155618167	155618167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:155618167C>T	ENST00000367166.4	-	4	521	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GAAATATTTTCAAGCCACTTG	0.368000													21	22					0	0	0.003330	0	0
CACNB4	785	broad.mit.edu	37	2	152729006	152729006	+	Splice_Site	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:152729006T>A	ENST00000360283.6	-	5	678	c.419_splice	c.e5-1	p.K141_splice	CACNB4_ENST00000539935.1_Splice_Site_p.K175_splice|CACNB4_ENST00000397327.2_Splice_Site_p.K128_splice|CACNB4_ENST00000427385.1_Splice_Site_p.K157_splice|CACNB4_ENST00000534999.1_Splice_Site_p.K141_splice|CACNB4_ENST00000201943.5_Splice_Site_p.K175_splice			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	175	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CCACTTGATTTCCTAGGATAT	0.383000													23	40					0	0	0.003330	0	0
BTBD3	22903	broad.mit.edu	37	20	11903874	11903874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:11903874C>T	ENST00000405977.1	+	5	1754	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	BTBD3_ENST00000254977.3_Missense_Mutation_p.R316C|BTBD3_ENST00000378226.2_Missense_Mutation_p.R377C|BTBD3_ENST00000399006.2_Missense_Mutation_p.R316C			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	377										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCGCTGTCACCGTTTCCAGTC	0.512000													20	33					0	0	0.007413	0	0
OR52B4	143496	broad.mit.edu	37	11	4389277	4389277	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4389277G>A	ENST00000408920.2	-	1	339	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATAGCTAAGGCCTGAGGAA	0.527000													13	19					0	0	0.001855	0	0
ALPI	248	broad.mit.edu	37	2	233323452	233323452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233323452G>A	ENST00000295463.3	+	10	1371	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	432					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAATGAGAGCGAGAGCGGTGA	0.652000													26	29					0	0	0.005443	0	0
NBEA	26960	broad.mit.edu	37	13	36006489	36006489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:36006489C>T	ENST00000540320.1	+	39	6797	c.6263C>T	c.(6262-6264)tCc>tTc	p.S2088F	NBEA_ENST00000379939.2_Missense_Mutation_p.S2085F|NBEA_ENST00000310336.4_Missense_Mutation_p.S2088F|NBEA_ENST00000400445.3_Missense_Mutation_p.S2088F			Q8NFP9	NBEA_HUMAN	neurobeachin	2088						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTTGGCTCCACTCATGCT	0.428000													7	11					0	0	0.003080	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69015058	69015058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:69015058C>T	ENST00000295381.3	+	4	855	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.L139F|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.L120F|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.L139F|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.L139F|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.L146F	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	146	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGTTAAATTCCTCAGGAGAGT	0.547000													30	38					0	0	0.006320	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492579	21492579	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:21492579G>A	ENST00000377142.4	-	2	1160	c.804C>T	c.(802-804)gcC>gcT	p.A268A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	268					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCACTGCTGGGCCTGGACCA	0.711000													39	60					0	0	0.014410	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:173494046G>A	ENST00000367714.3	-	20	2808	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000													28	35					0	0	0.006320	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217233	99217233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:99217233C>T	ENST00000394152.2	+	4	331	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.L2F|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.L2F	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TCTGAAGATGCTTAAAGAGCA	0.512000													48	79					0	0	0.013114	0	0
GPR158	57512	broad.mit.edu	37	10	25887846	25887846	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:25887846G>A	ENST00000376351.3	+	11	3650	c.3291G>A	c.(3289-3291)gaG>gaA	p.E1097E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCTCCCAGAGAGGGCAAAAG	0.512000													45	55					0	0	0.011902	0	0
FPR1	2357	broad.mit.edu	37	19	52249604	52249604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:52249604G>A	ENST00000595042.1	-	3	785	c.644C>T	c.(643-645)tCc>tTc	p.S215F	FPR1_ENST00000304748.4_Missense_Mutation_p.S215F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	215					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGCAACGATGGACATGGGTGC	0.527000													28	47					0	0	0.013726	0	0
DOCK3	1795	broad.mit.edu	37	3	51264789	51264789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:51264789C>T	ENST00000266037.9	+	16	1476	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	485	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTAATAGTCCTCGCTGGGG	0.468000													52	61					0	0	0.014410	0	0
FANK1	92565	broad.mit.edu	37	10	127677178	127677178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:127677178C>T	ENST00000368695.1	+	3	354	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	FANK1_ENST00000368689.1_Missense_Mutation_p.R78C|FANK1_ENST00000368693.1_Missense_Mutation_p.R84C|FANK1_ENST00000449042.2_Missense_Mutation_p.R78C	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	84	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGATTTCGCCTGAAGGT	0.522000													68	99					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237947970	237947970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:237947970G>A	ENST00000366574.2	+	90	13275	c.12958G>A	c.(12958-12960)Gaa>Aaa	p.E4320K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4326K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4304K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4320					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCTCGTCGAAGGTGCTAA	0.517000													27	36					0	0	0.009535	0	0
PREX2	80243	broad.mit.edu	37	8	69011978	69011978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:69011978C>T	ENST00000288368.4	+	23	2892	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	872					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCTAAATTCTCTAAATGAA	0.393000													32	32					0	0	0.012213	0	0
GABRG2	2566	broad.mit.edu	37	5	161580138	161580138	+	Nonsense_Mutation	SNP	C	C	T	rs121909674		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:161580138C>T	ENST00000356592.3	+	10	1652	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Q295*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Q390*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Q438*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	390					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGCAACCATTCAAATGAATAA	0.483000													40	9					0	0	0.006230	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142045754C>T	ENST00000390392.3	+	0	393																											CTCACTTATTCCTTCACCTAC	0.502000													63	80					0	0	0.014410	0	0
APBA1	320	broad.mit.edu	37	9	72046311	72046311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:72046311G>A	ENST00000265381.4	-	13	2668	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	816	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCTTCATATGAATCTGAGGG	0.622000													36	46					0	0	0.003755	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017247	72017247	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:72017247G>C	ENST00000378743.3	-	24	4995	c.4637C>G	c.(4636-4638)tCt>tGt	p.S1546C		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1546					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTATCATTAGATGGATCATA	0.353000													14	28					0	0	0.003163	0	0
BPTF	2186	broad.mit.edu	37	17	65914854	65914854	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:65914854C>T	ENST00000321892.4	+	14	5767	c.5706C>T	c.(5704-5706)tcC>tcT	p.S1902S	BPTF_ENST00000306378.6_Silent_p.S1776S|BPTF_ENST00000424123.3_Silent_p.S1763S|BPTF_ENST00000335221.5_Silent_p.S1902S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1902					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTAAAGTCCTTAGCTGGAG	0.428000													55	88					0	0	0.014410	0	0
RNF217	154214	broad.mit.edu	37	6	125404058	125404058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:125404058G>A	ENST00000521654.2	+	6	1604	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	RNF217_ENST00000275184.6_Missense_Mutation_p.R179Q|RNF217_ENST00000560949.1_Missense_Mutation_p.R300Q|RNF217_ENST00000368414.2_Missense_Mutation_p.R97Q|RNF217_ENST00000359704.2_3'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAGAGAAAACGATCACGGACA	0.393000													13	12					0	0	0.002450	0	0
EPOR	2057	broad.mit.edu	37	19	11489371	11489371	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11489371A>G	ENST00000592375.2	-	7	1015	c.911T>C	c.(910-912)tTc>tCc	p.F304S	EPOR_ENST00000222139.6_Missense_Mutation_p.F304S			P19235	EPOR_HUMAN	erythropoietin receptor	304						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACCTACCTGGAAGTTACCCTT	0.562000													45	49					0	0	0.013114	0	0
POLR1A	25885	broad.mit.edu	37	2	86310264	86310264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:86310264C>T	ENST00000263857.6	-	7	1136	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R253Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	253					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TAAGTATCCTCGTTTTCCTAT	0.443000													20	40					0	0	0.002780	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783702	149783702	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:149783702G>A	ENST00000427880.2	-	1	223	c.177C>T	c.(175-177)gcC>gcT	p.A59A	HIST2H2BF_ENST00000369167.1_Silent_p.A59A|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Silent_p.A59A			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGATGCCCATGGCCTTGGACG	0.607000													72	102					0	0	0.014410	0	0
KMT2C	58508	broad.mit.edu	37	7	151851222	151851222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:151851222G>A	ENST00000355193.2	-	49	12538	c.12320C>T	c.(12319-12321)tCa>tTa	p.S4107L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S4050L|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C									p.S4050*(1)|p.S4107*(1)									ATTCCTTCTTGATTCTGAACC	0.348000													14	18					0	0	0.002450	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631270	51631270	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51631270C>T	ENST00000440804.3	+	5	1147	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	SIGLEC9_ENST00000250360.3_Silent_p.F360F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	360					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCCTGGTCTTCCTGTCCTTCT	0.567000													87	80					0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531414	140531414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140531414G>A	ENST00000231136.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E390K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCTTTCGAGTTCCGCGT	0.672000													54	11					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179475012	179475012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179475012G>A	ENST00000589042.1	-	271	51465	c.51241C>T	c.(51241-51243)Cat>Tat	p.H17081Y	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H8141Y|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H8208Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H15440Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H14513Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8016Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15440	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACATAATGAAGAATTGGG	0.428000													72	95					0	0	0.014410	0	0
PROS1	5627	broad.mit.edu	37	3	93605254	93605254	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:93605254C>G	ENST00000394236.3	-	11	1565	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	PROS1_ENST00000407433.1_Missense_Mutation_p.E286Q	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	417	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AATCCATTTTCCGGCTTAAAA	0.373000													59	110					0	0	0.014410	0	0
ABCC8	6833	broad.mit.edu	37	11	17482077	17482077	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:17482077G>A	ENST00000302539.4	-	6	1094	c.969C>T	c.(967-969)atC>atT	p.I323I	ABCC8_ENST00000389817.3_Silent_p.I323I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	323	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTGGTCCACGATCCCAAAGA	0.602000													138	200					0	0	0.014410	0	0
CXCR1	3577	broad.mit.edu	37	2	219029360	219029360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219029360C>T	ENST00000295683.2	-	2	695	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	192					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGTGTCATTTCCCAGGACCTC	0.522000													25	35					0	0	0.004656	0	0
PTPRD	5789	broad.mit.edu	37	9	8317926	8317926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:8317926G>A	ENST00000381196.4	-	43	6230	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F	PTPRD_ENST00000397606.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000397611.3_Missense_Mutation_p.S1486F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1896F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S1486F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1874F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S1489F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1896F|PTPRD_ENST00000355233.5_Missense_Mutation_p.S1490F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1883F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1896	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCACGATAGGAAAACTGATA	0.408000										TSP Lung(15;0.13)			62	12					0	0	0.014410	0	0
BSN	8927	broad.mit.edu	37	3	49691891	49691891	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:49691891C>T	ENST00000296452.4	+	5	5016	c.4902C>T	c.(4900-4902)gcC>gcT	p.A1634A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1634					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGGGGTGCCCTCCCTGCTG	0.657000													11	16					0	0	0.010729	0	0
SYK	6850	broad.mit.edu	37	9	93606333	93606333	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:93606333C>T	ENST00000375754.4	+	2	301	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SYK_ENST00000375751.4_Silent_p.F51F|SYK_ENST00000375746.1_Silent_p.F51F|SYK_ENST00000375747.1_Silent_p.F51F|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	51	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGGTGGCTTCGCCCTGTCCG	0.637000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								13	10					0	0	0.001855	0	0
ATR	545	broad.mit.edu	37	3	142254971	142254971	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:142254971G>A	ENST00000350721.4	-	20	3919	c.3798C>T	c.(3796-3798)gcC>gcT	p.A1266A	ATR_ENST00000383101.3_Silent_p.A1202A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1266					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTGGAGAACGGCTTTTATCT	0.289000								Other conserved DNA damage response genes					22	44					0	0	0.012319	0	0
GALNTL6	442117	broad.mit.edu	37	4	173803993	173803993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:173803993G>A	ENST00000506823.1	+	8	1633	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.E309K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATGGTTTTGGGAATTGGGTGG	0.418000													49	69					0	0	0.014410	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216695	1216695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:1216695G>A	ENST00000304460.10	+	7	966	c.910G>A	c.(910-912)Gtg>Atg	p.V304M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	304					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAAGGACTCGGTGATTGTGTC	0.592000													19	9					0	0	0.012319	0	0
GPLD1	2822	broad.mit.edu	37	6	24460608	24460608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:24460608C>T	ENST00000230036.1	-	12	1017	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	303						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTGTGAAAATCATTTTTCTGC	0.363000													77	11					0	0	0.014410	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726794	8726794	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8726794G>A	ENST00000311434.9	-	14	1775	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	512					platelet activation	cytosol											CCACAGTCCGGGATGTGTCCA	0.522000													7	4					0	0	0.003080	0	0
OSBP2	23762	broad.mit.edu	37	22	31137152	31137152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:31137152C>T	ENST00000332585.6	+	2	753	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	OSBP2_ENST00000403222.3_Nonsense_Mutation_p.Q52*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.Q217*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.Q217*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.Q44*	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	217	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTACAGAAATCAGGGTGAAAT	0.532000													11	11					0	0	0.013537	0	0
STAB2	55576	broad.mit.edu	37	12	103984798	103984798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:103984798C>T	ENST00000388887.2	+	2	409	c.205C>T	c.(205-207)Cga>Tga	p.R69*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	69					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTAGGGGTTCGAGATTGCAG	0.458000													33	41					0	0	0.004878	0	0
NPAS4	266743	broad.mit.edu	37	11	66192014	66192014	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:66192014G>A	ENST00000311034.2	+	7	1829	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	551					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTTCCCAGAGCAACTGAGCC	0.582000													68	105					0	0	0.014410	0	0
CCDC73	493860	broad.mit.edu	37	11	32663598	32663598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:32663598C>T	ENST00000335185.5	-	13	1013	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	324										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTACCTTCTCCCTTTGCAGC	0.289000													7	8					0	0	0.001984	0	0
NEDD9	4739	broad.mit.edu	37	6	11213690	11213690	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:11213690G>T	ENST00000379446.5	-	2	449	c.283C>A	c.(283-285)Cca>Aca	p.P95T	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P95T|NEDD9_ENST00000379433.5_Missense_Mutation_p.P95T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	95					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTGGGTTTGGCACTTGATAG	0.562000													68	103					1.2582e-26	1.35082e-26	0.014410	1	0
TMEM182	130827	broad.mit.edu	37	2	103378691	103378691	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:103378691C>T	ENST00000412401.2	+	1	220	c.15C>T	c.(13-15)atC>atT	p.I5I	TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	5						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GACTAAATATCGCTATCTTCT	0.358000													11	8					0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38926777	38926777	+	Splice_Site	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38926777A>T	ENST00000302328.3	-	17	3263		c.e17+1		SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTGCCACTTACCTTTGGGCA	0.413000													16	15					0	0	0.004990	0	0
TYW5	129450	broad.mit.edu	37	2	200800763	200800763	+	Silent	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:200800763T>C	ENST00000354611.4	-	7	847	c.582A>G	c.(580-582)aaA>aaG	p.K194K	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	194	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						GTACTTCTGATTTAGTACCTA	0.284000													41	49					0	0	0.014410	0	0
ZNF582	147948	broad.mit.edu	37	19	56896237	56896237	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56896237C>T	ENST00000301310.4	-	5	707	c.549G>A	c.(547-549)aaG>aaA	p.K183K	ZNF582_ENST00000586929.1_Silent_p.K183K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TAAGGAGTTCCTTTTGCCAGA	0.338000													24	29					0	0	0.014323	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658470	111658470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:111658470C>T	ENST00000431670.2	+	7	2690	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	PHLDB2_ENST00000393923.3_Missense_Mutation_p.S744F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S760F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S717F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S717F|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S346F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	760						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AACATCGTTTCTAGAAAGGTA	0.378000													10	20					0	0	0.008291	0	0
TRPC5	7224	broad.mit.edu	37	X	111195505	111195505	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:111195505C>T	ENST00000262839.2	-	2	1062	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	48					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGCCTGCTTCACAGTGGCAT	0.547000													33	7					0	0	0.003271	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097473	202097473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:202097473C>T	ENST00000367282.4	+	2	1341	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	412						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCGCCATCACCCCAGTGCTG	0.652000													26	28					0	0	0.007291	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													21	32					0	0	0.012319	0	0
CCDC11	220136	broad.mit.edu	37	18	47769285	47769285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:47769285G>A	ENST00000398545.4	-	6	1315	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	400										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGAACTTGAAGTTTTCTT	0.368000													59	69					0	0	0.014410	0	0
MECOM	2122	broad.mit.edu	37	3	168840402	168840402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:168840402C>T	ENST00000464456.1	-	5	1580	c.380G>A	c.(379-381)aGt>aAt	p.S127N	MECOM_ENST00000460814.1_Missense_Mutation_p.S127N|MECOM_ENST00000494292.1_Missense_Mutation_p.S315N|MECOM_ENST00000468789.1_Missense_Mutation_p.S127N|MECOM_ENST00000433243.2_Missense_Mutation_p.S127N|MECOM_ENST00000472280.1_Missense_Mutation_p.S127N|MECOM_ENST00000392736.3_Missense_Mutation_p.S127N|MECOM_ENST00000264674.3_Missense_Mutation_p.S191N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGCTTTCCACTGTCATGTGA	0.433000													22	36					0	0	0.012319	0	0
MCC	4163	broad.mit.edu	37	5	112399763	112399763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:112399763C>T	ENST00000302475.4	-	12	2124	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	MCC_ENST00000408903.3_Missense_Mutation_p.D711N|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.D458N	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	521					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGCTGCCGTCCAGCTTCATG	0.607000													31	10					0	0	0.013726	0	0
OR51L1	119682	broad.mit.edu	37	11	5020353	5020353	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5020353C>T	ENST00000321543.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTACCATCCTGTCTGTCA	0.433000													57	61					0	0	0.014410	0	0
NLRC5	84166	broad.mit.edu	37	16	57100492	57100492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:57100492C>T	ENST00000436936.1	+	34	4513	c.4288C>T	c.(4288-4290)Cgc>Tgc	p.R1430C	NLRC5_ENST00000308149.7_Missense_Mutation_p.R1401C|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1430C|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1401C			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1430					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAATTTCCTCGCCAGGAAGA	0.637000													13	18					0	0	0.004007	0	0
OR9A4	130075	broad.mit.edu	37	7	141619141	141619141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:141619141C>T	ENST00000548136.1	+	1	525	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTCTTTTTCAAATCTGGCC	0.413000													66	88					0	0	0.014410	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:28913665C>T	ENST00000257192.4	+	7	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	266	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGATAATATCCCTTACATGG	0.393000													23	37					0	0	0.003330	0	0
MYO18A	399687	broad.mit.edu	37	17	27437624	27437624	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:27437624G>A	ENST00000527372.1	-	18	3097	c.2917C>T	c.(2917-2919)Ctg>Ttg	p.L973L	MYO18A_ENST00000531253.1_Silent_p.L973L|MYO18A_ENST00000533112.1_Silent_p.L973L|MYO18A_ENST00000354329.4_Silent_p.L973L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	973	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCAGAAACAGGTTGCTGATG	0.652000													13	12					0	0	0.002450	0	0
C6orf165	154313	broad.mit.edu	37	6	88173777	88173777	+	Missense_Mutation	SNP	G	G	A	rs146287743		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:88173777G>A	ENST00000507897.1	+	13	1761	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D560N|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	560										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		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;0.0419)		AGTACAAACTGATCTTAGTCA	0.413000													16	27					0	0	0.006122	0	0
ABCB1	5243	broad.mit.edu	37	7	87168615	87168615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:87168615C>T	ENST00000265724.3	-	20	2783	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	789	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACCATGTATCGGAGCCGCTT	0.522000													45	39					0	0	0.014410	0	0
KITLG	4254	broad.mit.edu	37	12	88912537	88912537	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:88912537G>A	ENST00000347404.5	-	4	872	c.300C>T	c.(298-300)atC>atT	p.I100I	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.I100I	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	100					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTTTGTCTATGATGGAATAAT	0.363000									Testicular Cancer, Familial Clustering of				24	34					0	0	0.004656	0	0
VCAN	1462	broad.mit.edu	37	5	82835116	82835116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:82835116G>A	ENST00000265077.3	+	8	6859	c.6294G>A	c.(6292-6294)tgG>tgA	p.W2098*	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W1111*|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2098	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCAAATTATGGTCTAGGCAAG	0.403000													28	6					0	0	0.008361	0	0
IL4R	3566	broad.mit.edu	37	16	27374340	27374340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:27374340G>A	ENST00000395762.2	+	11	1926	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	IL4R_ENST00000543915.2_Missense_Mutation_p.R556Q|IL4R_ENST00000380922.3_Missense_Mutation_p.R541Q|IL4R_ENST00000170630.2_Missense_Mutation_p.R556Q	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	556	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATCCTCCGCCGAAATGTCCTC	0.637000													21	17					0	0	0.010504	0	0
LSAMP	4045	broad.mit.edu	37	3	115738374	115738374	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:115738374G>T	ENST00000490035.1	-	3	1001	c.502C>A	c.(502-504)Ctt>Att	p.L168I	LSAMP_ENST00000539563.1_Missense_Mutation_p.L165I|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	168	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTTGGTGTAAGGTGTCTCCAG	0.463000													11	18					0.00829132	0.00868338	0.008291	1	0
OR10A2	341276	broad.mit.edu	37	11	6891566	6891566	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6891566T>G	ENST00000307322.4	+	1	643	c.581T>G	c.(580-582)gTc>gGc	p.V194G		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATTCTGGTGGTCATGATCCCC	0.498000													72	70					0	0	0.014410	0	0
NOVA1	4857	broad.mit.edu	37	14	26917170	26917170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:26917170C>T	ENST00000539517.2	-	5	1836	c.1519G>A	c.(1519-1521)Ggt>Agt	p.G507S	NOVA1_ENST00000465357.2_Missense_Mutation_p.G483S|NOVA1_ENST00000267422.7_Missense_Mutation_p.G385S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	510					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCACTCAACCCACTTTCTGA	0.428000													13	32					0	0	0.001855	0	0
MAP3K14	9020	broad.mit.edu	37	17	43347910	43347910	+	RNA	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:43347910A>G	ENST00000344686.2	-	0	1947							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTCCCTCACAGGCGGAGGCT	0.622000													12	22					0	0	0.013537	0	0
BRE	9577	broad.mit.edu	37	2	28521344	28521344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:28521344G>A	ENST00000344773.2	+	11	1212	c.1074G>A	c.(1072-1074)atG>atA	p.M358I	BRE_ENST00000379624.1_Missense_Mutation_p.M358I|BRE_ENST00000379632.2_Missense_Mutation_p.M358I|BRE_ENST00000342045.2_Missense_Mutation_p.M358I|BRE_ENST00000361704.2_Missense_Mutation_p.M358I	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	358	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GAAATGAAATGGCCAAAAGAG	0.433000													35	33					0	0	0.013726	0	0
SESN3	143686	broad.mit.edu	37	11	94924756	94924756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:94924756C>T	ENST00000536441.1	-	3	490	c.154G>A	c.(154-156)Gca>Aca	p.A52T	SESN3_ENST00000416495.2_Missense_Mutation_p.A52T|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.A52T|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	52					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACTGTGTTTGCTTGGACAACC	0.363000													23	17					0	0	0.002780	0	0
DNAH8	1769	broad.mit.edu	37	6	38793939	38793939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:38793939G>A	ENST00000359357.3	+	27	3458	c.3204G>A	c.(3202-3204)atG>atA	p.M1068I	DNAH8_ENST00000449981.2_Missense_Mutation_p.M1285I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M1068I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAGCCGATGAAATTGGCCT	0.358000													14	2					0	0	0.002450	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760641	102760641	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:102760641C>A	ENST00000417955.1	-	3	478	c.324G>T	c.(322-324)aaG>aaT	p.K108N	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.K108N|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.K181N|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.K108N|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.K108N			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	108					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TAAAATATGGCTTAAGCACTG	0.403000													33	67					3.03874e-20	3.25074e-20	0.003271	1	0
SEC24B	10427	broad.mit.edu	37	4	110451530	110451530	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:110451530C>T	ENST00000265175.5	+	19	3217	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	SEC24B_ENST00000399100.2_Silent_p.G1019G|SEC24B_ENST00000504968.2_Silent_p.G1084G	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1054					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGCATATGGCTCAACTGTCT	0.453000													31	33					0	0	0.009535	0	0
COL19A1	1310	broad.mit.edu	37	6	70897937	70897937	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:70897937C>T	ENST00000322773.4	+	47	3117	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I	COL19A1_ENST00000393344.1_Silent_p.I627I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1005	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTCCAGGCATCCCTGGCATTC	0.542000													15	12					0	0	0.003163	0	0
NBEA	26960	broad.mit.edu	37	13	36046664	36046664	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:36046664C>T	ENST00000540320.1	+	41	7110	c.6576C>T	c.(6574-6576)atC>atT	p.I2192I	NBEA_ENST00000379939.2_Silent_p.I2189I|NBEA_ENST00000310336.4_Silent_p.I2192I|NBEA_ENST00000400445.3_Silent_p.I2192I			Q8NFP9	NBEA_HUMAN	neurobeachin	2192						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAAGAAGATCGACACGAAAG	0.478000													20	22					0	0	0.010504	0	0
ANK3	288	broad.mit.edu	37	10	61830575	61830575	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:61830575G>T	ENST00000280772.1	-	37	10255	c.10064C>A	c.(10063-10065)tCc>tAc	p.S3355Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3355					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTGGTTGGAAGCCTTTTC	0.383000													42	55					2.24893e-16	2.3994e-16	0.009718	1	0
NCAPD3	23310	broad.mit.edu	37	11	134048799	134048799	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:134048799G>A	ENST00000534548.2	-	21	2656	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	864					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACACAGCTGGGCTATATCCC	0.428000													14	14					0	0	0.003163	0	0
MRGBP	55257	broad.mit.edu	37	20	61429957	61429957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:61429957C>T	ENST00000370487.3	+	3	360	c.289C>T	c.(289-291)Cca>Tca	p.P97S		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		TGAGATTCTTCCATTCCCGAA	0.458000													47	86					0	0	0.014410	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659634	63659634	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:63659634C>T	ENST00000523211.1	+	4	549	c.417C>T	c.(415-417)atC>atT	p.I139I	NKAIN3_ENST00000328472.5_Silent_p.I139I|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	139						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CAGGCTGCATCGTTGACTTCC	0.493000													26	17					0	0	0.004656	0	0
TRIM6	117854	broad.mit.edu	37	11	5625835	5625835	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5625835C>T	ENST00000380097.3	+	3	821	c.579C>T	c.(577-579)atC>atT	p.I193I	TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000278302.5_Silent_p.I165I|TRIM6_ENST00000506134.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Silent_p.I139I|TRIM6-TRIM34_ENST00000354852.5_Silent_p.I193I	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGCTTTTATCAGAGAGAAGA	0.473000													36	49					0	0	0.003271	0	0
MAFB	9935	broad.mit.edu	37	20	39316829	39316829	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:39316829A>T	ENST00000373313.2	-	1	1051	c.662T>A	c.(661-663)gTg>gAg	p.V221E	MAFB_ENST00000396967.1_Missense_Mutation_p.V221E	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	221					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CAGCTCGCGCACGGACATGGA	0.721000			T	IGH@	MM								4	11					0	0	0.009096	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599096	64599096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:64599096C>T	ENST00000342711.5	-	28	3184	c.3185G>A	c.(3184-3186)gGt>gAt	p.G1062D	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1062	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTGCAGCTCACCCAGCACCTG	0.687000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	14					0	0	0.005443	0	0
NACA	4666	broad.mit.edu	37	12	57111634	57111634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57111634G>A	ENST00000454682.1	-	3	3961	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTTTGGGGAGGGAGGAGT	0.662000			T	BCL6	NHL								72	93					0	0	0.014410	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352450	36352450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:36352450C>T	ENST00000312412.4	-	11	1336	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R291Q																kidney(1)|lung(3)	4						ATGCAGCATTCGGATGACAGA	0.373000													4	30					0	0	0.000602	0	0
GAK	2580	broad.mit.edu	37	4	906537	906537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:906537C>T	ENST00000314167.4	-	3	363	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	85	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AAGCAAACTTCTTGAATGATG	0.493000													19	21					0	0	0.007413	0	0
EHD3	30845	broad.mit.edu	37	2	31483665	31483665	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:31483665C>T	ENST00000322054.5	+	4	1077	c.792C>T	c.(790-792)atC>atT	p.I264I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	264					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCTCCTCATCCCTGACAACC	0.597000													27	35					0	0	0.005443	0	0
TTBK2	146057	broad.mit.edu	37	15	43045282	43045282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:43045282G>A	ENST00000267890.6	-	14	2270	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	721					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCCACTAGGAGGTTCACCCTC	0.468000													53	91					0	0	0.014410	0	0
TTBK1	84630	broad.mit.edu	37	6	43251561	43251561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:43251561C>T	ENST00000259750.4	+	14	3166	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1028						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCCCCGGTGTCCCCGCTGGAG	0.677000													25	27					0	0	0.004656	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19197388	19197388	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:19197388C>T	ENST00000446113.2	+	17	1871	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L	ZDHHC13_ENST00000399351.3_Silent_p.L454L	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	584					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CATGCAGAACCTGGCAGATTT	0.418000													32	46					0	0	0.010818	0	0
SEC16B	89866	broad.mit.edu	37	1	177915597	177915597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:177915597G>A	ENST00000308284.6	-	14	1822	c.1733C>T	c.(1732-1734)aCc>aTc	p.T578I	SEC16B_ENST00000464631.1_Missense_Mutation_p.T579I|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	578					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGTCTTCACGGTGTAGTGGCC	0.547000											OREG0014008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	6					0	0	0.003080	0	0
CCDC132	55610	broad.mit.edu	37	7	92887687	92887687	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:92887687T>G	ENST00000544910.1	+	9	689	c.469T>G	c.(469-471)Tta>Gta	p.L157V	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L187V|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.L187V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	187										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGATGTACGGTTAAGTGAAAT	0.303000													23	35					0	0	0.006320	0	0
COL4A2	1284	broad.mit.edu	37	13	111109710	111109710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:111109710G>A	ENST00000360467.5	+	21	1666	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	454	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCTGAAAGGAGCAAAAGG	0.627000													7	14					0	0	0.001984	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	44					0	0	0.000602	0	0
ERLIN2	11160	broad.mit.edu	37	8	37603117	37603117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:37603117C>T	ENST00000335171.6	+	7	793	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ERLIN2_ENST00000518586.1_3'UTR|ERLIN2_ENST00000523887.1_3'UTR|ERLIN2_ENST00000397228.2_Missense_Mutation_p.S152L|ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000519638.1_Intron	NM_001003790.3	NP_001003790.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	0					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			caggaatcttcataaaaggga	0.373000													13	18					0	0	0.004007	0	0
LCE2B	26239	broad.mit.edu	37	1	152659456	152659456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152659456C>T	ENST00000368780.3	+	2	191	c.137C>T	c.(136-138)tCt>tTt	p.S46F	LCE2B_ENST00000417924.2_Missense_Mutation_p.S46F	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	46	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627000													70	101					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:166929996C>T	ENST00000423058.2	-	1	153	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E46K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448000													69	98					0	0	0.014410	0	0
CCR4	1233	broad.mit.edu	37	3	32995250	32995250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:32995250G>A	ENST00000330953.5	+	2	504	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	112					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTGCAAGATGATTTCCTGGA	0.478000													95	144					0	0	0.014410	0	0
ADCY10	55811	broad.mit.edu	37	1	167792263	167792263	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:167792263T>C	ENST00000367848.1	-	29	4372	c.3875A>G	c.(3874-3876)gAc>gGc	p.D1292G	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.D1384G|ADCY10_ENST00000545172.1_Missense_Mutation_p.D1231G			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1384					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGCAGGATGTCCAAGCAGAC	0.498000													27	26					0	0	0.006320	0	0
FOCAD	54914	broad.mit.edu	37	9	20874701	20874701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:20874701C>T	ENST00000380249.1	+	21	2576	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	FOCAD_ENST00000338382.6_Missense_Mutation_p.P738S|FOCAD_ENST00000604828.1_3'UTR|FOCAD_ENST00000605086.1_Missense_Mutation_p.P174S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	738						integral to membrane	binding	p.P738A(1)									AATTCCCATTCCTGAAGAGTT	0.368000													45	11					0	0	0.010771	0	0
MUC16	94025	broad.mit.edu	37	19	9064001	9064001	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9064001G>A	ENST00000397910.4	-	3	23648	c.23445C>T	c.(23443-23445)ttC>ttT	p.F7815F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7817	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTCAAGGAAGGCAGGAG	0.527000													50	58					0	0	0.014410	0	0
ILDR2	387597	broad.mit.edu	37	1	166927084	166927084	+	Nonsense_Mutation	SNP	G	G	A	rs141350747		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:166927084G>A	ENST00000271417.3	-	2	356	c.301C>T	c.(301-303)Cga>Tga	p.R101*	ILDR2_ENST00000528703.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000529387.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.R101*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.R101*|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.R101*	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	101	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCTACTACTCGAACAGTCCTC	0.498000													39	54					0	0	0.006230	0	0
MEIS2	4212	broad.mit.edu	37	15	37184640	37184640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:37184640C>T	ENST00000338564.5	-	13	1593	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.D383N|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.D390N|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	390					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAACGTAGTCCCCTGGCATG	0.443000													85	128					0	0	0.014410	0	0
PARP15	165631	broad.mit.edu	37	3	122351038	122351038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122351038G>A	ENST00000483793.1	+	7	999	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	PARP15_ENST00000464300.2_Missense_Mutation_p.R515Q|PARP15_ENST00000493645.1_Missense_Mutation_p.R212Q|PARP15_ENST00000310366.4_Missense_Mutation_p.R281Q|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	493	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.R515Q(1)|p.R281Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTTCACCCGAACTTGTTCT	0.358000													21	26					0	0	0.002780	0	0
ENPP4	22875	broad.mit.edu	37	6	46107658	46107658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:46107658G>A	ENST00000321037.4	+	2	568	c.338G>A	c.(337-339)tGg>tAg	p.W113*		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	113						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCTTTTTGGTGGAATGAGGCA	0.443000													22	44					0	0	0.012319	0	0
NXPH1	30010	broad.mit.edu	37	7	8790861	8790861	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:8790861A>G	ENST00000405863.1	+	3	1189	c.278A>G	c.(277-279)aAc>aGc	p.N93S	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	93	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGGCTGAGGAACTCCACAGAC	0.483000													35	42					0	0	0.013726	0	0
ROPN1L	83853	broad.mit.edu	37	5	10442315	10442315	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:10442315G>A	ENST00000503804.1	+	2	557	c.36G>A	c.(34-36)caG>caA	p.Q12Q	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.Q12Q			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	12					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GCGCTCAGCAGATCCACATTC	0.662000													38	9					0	0	0.005524	0	0
TSPAN12	23554	broad.mit.edu	37	7	120450525	120450525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:120450525G>A	ENST00000222747.3	-	6	1067	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.Q154*	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	154					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					ACCTCTCTCTGAAAAAAATTC	0.398000													25	23					0	0	0.007291	0	0
DUSP13	51207	broad.mit.edu	37	10	76855508	76855508	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:76855508G>A	ENST00000491677.2	-	7	1148	c.606C>T	c.(604-606)acC>acT	p.T202T	DUSP13_ENST00000464872.1_Silent_p.T73T|DUSP13_ENST00000472493.2_Silent_p.T73T|DUSP13_ENST00000607131.1_Silent_p.T166T|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.T123T|DUSP13_ENST00000478873.2_Silent_p.T209T|DUSP13_ENST00000605915.1_Silent_p.T95T	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	65						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCACAACGTGGGTGATTCCCA	0.577000													51	61					0	0	0.014410	0	0
COL27A1	85301	broad.mit.edu	37	9	117072929	117072929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:117072929C>T	ENST00000356083.3	+	61	5928	c.5537C>T	c.(5536-5538)tCa>tTa	p.S1846L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1846	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTGCCTCATCAGGGAAGCAG	0.602000													35	42					0	0	0.003755	0	0
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:54783453G>A	ENST00000218436.6	-	8	3083	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1018					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGACTCCACGAACTTGGATT	0.522000													13	1					0	0	0.003163	0	0
TLR3	7098	broad.mit.edu	37	4	187004218	187004218	+	Missense_Mutation	SNP	G	G	A	rs144550375		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187004218G>A	ENST00000296795.2	+	4	1482	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	TLR3_ENST00000504367.1_Missense_Mutation_p.E183K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	460					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATATTTTCGAAATCTATCT	0.473000													21	30					0	0	0.012319	0	0
DKK3	27122	broad.mit.edu	37	11	11987501	11987501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:11987501G>A	ENST00000396505.2	-	7	923	c.685C>T	c.(685-687)Cct>Tct	p.P229S	DKK3_ENST00000525493.1_Missense_Mutation_p.P229S|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.P229S|DKK3_ENST00000450094.2_Missense_Mutation_p.P201S	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	229	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTGCACACAGGGAACAGCAGG	0.627000													14	17					0	0	0.001855	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040702	184040702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:184040702C>T	ENST00000342981.4	+	12	2303	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	EIF4G1_ENST00000350481.5_Missense_Mutation_p.P466L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P590L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P630L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P543L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P637L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P466L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P637L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P630L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P590L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P434L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P543L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P637L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P434L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	630	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGCAGAAGCCAGAGGGATTG	0.502000													83	108					0	0	0.014410	0	0
MAOB	4129	broad.mit.edu	37	X	43637955	43637955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:43637955C>T	ENST00000378069.4	-	11	1258	c.1111G>A	c.(1111-1113)Gtt>Att	p.V371I	MAOB_ENST00000538942.1_Missense_Mutation_p.V355I|MAOB_ENST00000536181.1_Missense_Mutation_p.V355I	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	371					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GAACCCAGAACCTTGGCATAG	0.448000													14	0					0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	89953983	89953983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:89953983C>T	ENST00000405460.2	+	21	4736	c.4640C>T	c.(4639-4641)tCt>tTt	p.S1547F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1547					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAACTAGTTTCTGTATATGGA	0.363000													31	5					0	0	0.008361	0	0
LILRP2	79166	broad.mit.edu	37	19	55220543	55220543	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:55220543G>A	ENST00000413439.1	+	0	681																											GCCCACCAGAGCCCAGGAACA	0.572000													4	8					0	0	0.009096	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328984	88328984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:88328984G>A	ENST00000325089.6	+	2	1560	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.M206I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	447						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCATCTCGATGATCCAGGACC	0.587000													20	26					0	0	0.014323	0	0
PLCB1	23236	broad.mit.edu	37	20	8678363	8678363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:8678363G>A	ENST00000378641.3	+	11	1575	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PLCB1_ENST00000378637.2_Missense_Mutation_p.G367E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G367E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	367	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTGGAAGGGACGGACTGCA	0.488000													55	47					0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103491381	103491381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:103491381G>A	ENST00000358392.2	-	6	1225	c.908C>T	c.(907-909)tCa>tTa	p.S303L	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCTTTTGCTGATGCTTGATA	0.368000													44	74					0	0	0.008740	0	0
BCAR1	9564	broad.mit.edu	37	16	75276498	75276498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:75276498G>A	ENST00000546196.1	-	2	2068	c.416C>T	c.(415-417)cCc>cTc	p.P139L	BCAR1_ENST00000538440.2_Missense_Mutation_p.P168L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P186L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P214L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P186L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P166L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P168L|BCAR1_ENST00000162330.5_Missense_Mutation_p.P168L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	168	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCCCTGGGGGCACCTGGTA	0.637000													74	70					0	0	0.014410	0	0
ZNF229	7772	broad.mit.edu	37	19	44932600	44932600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:44932600G>A	ENST00000291187.4	-	6	2660	c.2338C>T	c.(2338-2340)Cat>Tat	p.H780Y	ZNF229_ENST00000588931.1_Missense_Mutation_p.H786Y|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACTCTCTGATGAACATGAAGA	0.502000													23	35					0	0	0.014323	0	0
FAM177B	400823	broad.mit.edu	37	1	222920392	222920392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:222920392G>A	ENST00000445590.2	+	4	476	c.210G>A	c.(208-210)tgG>tgA	p.W70*	FAM177B_ENST00000360827.2_Nonsense_Mutation_p.W70*	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	70										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TACGATTTTGGGCAGGACGAA	0.373000													31	39					0	0	0.003271	0	0
MCF2L2	23101	broad.mit.edu	37	3	182910879	182910879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:182910879C>T	ENST00000328913.3	-	27	3221	c.2924G>A	c.(2923-2925)gGc>gAc	p.G975D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.G975D|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	975					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGCTCCACTGCCTTTGCTTTA	0.498000													28	42					0	0	0.006320	0	0
KCNH7	90134	broad.mit.edu	37	2	163241346	163241346	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:163241346G>A	ENST00000332142.5	-	13	2913	c.2814C>T	c.(2812-2814)atC>atT	p.I938I		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAATGGAGGAGATGAAAGATG	0.413000													50	63					0	0	0.014410	0	0
USHBP1	83878	broad.mit.edu	37	19	17373466	17373466	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:17373466C>T	ENST00000252597.3	-	4	710	c.537G>A	c.(535-537)agG>agA	p.R179R	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.R115R	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	179							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCATTCCTCTCGGCCA	0.662000													30	40					0	0	0.010818	0	0
SERPINA3	12	broad.mit.edu	37	14	95081325	95081325	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:95081325T>A	ENST00000553947.1	+	5	1510	c.622T>A	c.(622-624)Tac>Aac	p.Y208N	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.Y183N|SERPINA3_ENST00000467132.1_Missense_Mutation_p.Y183N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.Y183N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	183					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCAACGACTACGTGAAGAA	0.493000													36	51					0	0	0.003271	0	0
COL5A3	50509	broad.mit.edu	37	19	10089817	10089817	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:10089817C>T	ENST00000264828.3	-	39	2950	c.2865G>A	c.(2863-2865)gaG>gaA	p.E955E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	955	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTGGCCCCCTCTCTGCCTT	0.582000													24	25					0	0	0.003954	0	0
CHDH	55349	broad.mit.edu	37	3	53857356	53857356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:53857356C>T	ENST00000315251.5	-	3	1117	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	227					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CATGTCCATCCAGCCGAAGCC	0.607000													6	11					0	0	0.001168	0	0
TEX13A	56157	broad.mit.edu	37	X	104464658	104464658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:104464658C>T	ENST00000372578.3	-	2	535	c.424G>A	c.(424-426)Gag>Aag	p.E142K	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E142K|TEX13A_ENST00000413579.1_Missense_Mutation_p.E142K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	142						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTGTCTCTCTCTTTCTGCACC	0.607000													17	1					0	0	0.010504	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965375	171965375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:171965375C>T	ENST00000336824.4	+	5	416	c.317C>T	c.(316-318)cCt>cTt	p.P106L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P106L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P106L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	106						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCCCAGTCTCCTGAGTGTTAT	0.483000													68	70					0	0	0.014410	0	0
C1orf86	199990	broad.mit.edu	37	1	2125571	2125571	+	Splice_Site	SNP	G	G	A	rs34259008		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:2125571G>A	ENST00000378545.3	-	3	372	c.371_splice	c.e3-1	p.P125_splice	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Splice_Site_p.P22_splice|C1orf86_ENST00000487186.1_5'UTR			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	22										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCGCCAGAAGGCCTGGGGCAG	0.682000													24	7					0	0	0.003330	0	0
KRT24	192666	broad.mit.edu	37	17	38854567	38854567	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:38854567C>T	ENST00000264651.2	-	8	1556	c.1500G>A	c.(1498-1500)aaG>aaA	p.K500K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	500	Tail.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTACGATAGTCTTAGTCACTC	0.408000													12	36					0	0	0.002450	0	0
HTT	3064	broad.mit.edu	37	4	3189493	3189493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:3189493C>T	ENST00000355072.5	+	39	5250	c.5105C>T	c.(5104-5106)tCt>tTt	p.S1702F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1702					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTCCTTCTCTCCGTATTTA	0.398000													55	56					0	0	0.014410	0	0
PGM5	5239	broad.mit.edu	37	9	71006611	71006611	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:71006611G>T	ENST00000396396.1	+	5	1088	c.859G>T	c.(859-861)Gga>Tga	p.G287*	PGM5_ENST00000396392.1_Nonsense_Mutation_p.G287*|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	287					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AGGAGAATATGGATTTGGAGC	0.463000													25	46					1.75199e-13	1.86255e-13	0.007291	1	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342107	69342107	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:69342107A>C	ENST00000305363.4	+	7	722	c.658A>C	c.(658-660)Acc>Ccc	p.T220P		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	220	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTGTGGAGCAACCTTAATTAA	0.502000													27	60					0	0	0.008361	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661886	139661886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:139661886G>A	ENST00000263552.6	+	13	1529	c.991G>A	c.(991-993)Gag>Aag	p.E331K	TBXAS1_ENST00000448866.1_Missense_Mutation_p.E330K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E331K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E331K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E263K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E376K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E330K|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E330K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E377K	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	330			I -> T (in dbSNP:rs6140).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACTGTGGATGAGATTGTGGG	0.542000													12	19					0	0	0.013537	0	0
SPOCK3	50859	broad.mit.edu	37	4	167983660	167983660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:167983660C>T	ENST00000357154.3	-	4	364	c.227G>A	c.(226-228)gGa>gAa	p.G76E	SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G25E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G73E|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	76					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GAAGGGTTTTCCTGGACTCCA	0.308000													28	30					0	0	0.013726	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503930	140503930	+	Missense_Mutation	SNP	G	G	A	rs140862802		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140503930G>A	ENST00000194152.1	+	1	2350	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		784					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E784K(1)		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)			GGAAGTTAAGGAAAACCCCAA	0.448000													18	10					0	0	0.008871	0	0
PCLO	27445	broad.mit.edu	37	7	82785026	82785026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82785026G>A	ENST00000423517.2	-	2	1268	c.931C>T	c.(931-933)Cct>Tct	p.P311S	PCLO_ENST00000333891.8_Missense_Mutation_p.P311S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	301	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTTTCCAGGAGTTGGTTGC	0.532000													28	22					0	0	0.007291	0	0
KCNC1	3746	broad.mit.edu	37	11	17793727	17793727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:17793727G>A	ENST00000379472.3	+	2	1116	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	KCNC1_ENST00000265969.6_Missense_Mutation_p.M362I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	362						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCCACCATGATCTACTACG	0.622000													23	25					0	0	0.012319	0	0
OR5T1	390155	broad.mit.edu	37	11	56043337	56043337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:56043337C>T	ENST00000313033.2	+	1	309	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTACTATTTTCTTGGTGTTTT	0.353000													20	27					0	0	0.008871	0	0
INPPL1	3636	broad.mit.edu	37	11	71939530	71939530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:71939530C>T	ENST00000298229.2	+	3	589	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	129					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCGGATGACCGGGATGCCTC	0.652000													28	62					0	0	0.007291	0	0
FAM53C	51307	broad.mit.edu	37	5	137680697	137680697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:137680697C>T	ENST00000239906.5	+	4	748	c.320C>T	c.(319-321)cCt>cTt	p.P107L	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.P107L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	107										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGCTTCCTGTGCCCCCT	0.662000													26	9					0	0	0.004656	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022207	59022207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:59022207C>T	ENST00000263093.2	-	2	888	c.779G>A	c.(778-780)gGg>gAg	p.G260E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G176E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	260					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCACCCCTGGTGTAGG	0.637000													29	27					0	0	0.007291	0	0
EP300	2033	broad.mit.edu	37	22	41572330	41572330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:41572330C>T	ENST00000263253.7	+	30	6078	c.4859C>T	c.(4858-4860)cCc>cTc	p.P1620L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1620	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTCTCATCCCCTGCGATCTG	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				39	75					0	0	0.006999	0	0
XIRP2	129446	broad.mit.edu	37	2	168105732	168105732	+	Silent	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:168105732C>A	ENST00000409195.1	+	9	7919	c.7830C>A	c.(7828-7830)ccC>ccA	p.P2610P	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2388P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2610P|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2435					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGTTCAACCCAGCCCAGGCT	0.463000													35	42					3.90053e-15	4.15778e-15	0.012213	1	0
KIF4B	285643	broad.mit.edu	37	5	154394896	154394896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:154394896G>A	ENST00000435029.4	+	1	1637	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	493					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACTGCGGTAGAAGAAGAAGC	0.453000													43	13					0	0	0.014410	0	0
ABRA	137735	broad.mit.edu	37	8	107782255	107782255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:107782255C>T	ENST00000311955.3	-	1	218	c.164G>A	c.(163-165)gGg>gAg	p.G55E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	55					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCCTGGGTCCCTCCCGGCAG	0.617000													42	42					0	0	0.009718	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1719012	1719012	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:1719012C>T	ENST00000397412.3	+	19	3444	c.3345C>T	c.(3343-3345)gtC>gtT	p.V1115V	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.V1112V|CRAMP1L_ENST00000293925.5_Silent_p.V1115V|CRAMP1L_ENST00000262317.4_Silent_p.V490V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1115	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGAAGGAGTCCCTCTTTCTC	0.592000													17	11					0	0	0.006122	0	0
NDRG1	10397	broad.mit.edu	37	8	134251180	134251180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:134251180G>A	ENST00000414097.2	-	16	1993	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000522476.1_Missense_Mutation_p.P310S|NDRG1_ENST00000354944.5_Missense_Mutation_p.P306S|NDRG1_ENST00000518066.1_Missense_Mutation_p.P85S|NDRG1_ENST00000537882.1_Missense_Mutation_p.P295S|NDRG1_ENST00000323851.7_Missense_Mutation_p.P376S|NDRG1_ENST00000518176.1_Missense_Mutation_p.P123S	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	376					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|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)			CCCGAGTTGGGGGTGATGTCC	0.711000			T	ERG	prostate								4	5					0	0	0.009096	0	0
TRPM6	140803	broad.mit.edu	37	9	77377697	77377697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:77377697C>T	ENST00000451710.3	-	26	4127	c.3890G>A	c.(3889-3891)aGg>aAg	p.R1297K	TRPM6_ENST00000360774.1_Missense_Mutation_p.R1297K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1292K|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1297K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1292K|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1297					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1299fs*15(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGTGCCCCCCTCTGCACTCT	0.478000													70	89					0	0	0.014410	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365223	92365223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:92365223G>A	ENST00000276609.3	+	11	1552	c.1314_splice	c.e11+1	p.W438_splice	SLC26A7_ENST00000523719.1_Splice_Site_p.W438_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.W438_splice|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	438						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAAATCGATTGGGTAAGTAGA	0.318000													32	47					0	0	0.012213	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451535	38451535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:38451535C>T	ENST00000322350.5	+	19	3008	c.2662C>T	c.(2662-2664)Ctt>Ttt	p.L888F	EGFLAM_ENST00000397210.3_Missense_Mutation_p.L31F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.L31F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.L654F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.L254F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L896F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.L31F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	896	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCCTTGGGCCTTCGGGATGG	0.517000													49	10					0	0	0.014410	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738767	138738767	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:138738767G>A	ENST00000242351.5	-	11	2578	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	ZC3HAV1_ENST00000464606.1_Silent_p.F876F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	754	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTTCAATCTTGAAATTTTTCA	0.338000													15	19					0	0	0.002450	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2170541	2170541	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:2170541G>A	ENST00000397270.1	-	3	280	c.222C>T	c.(220-222)acC>acT	p.T74T	INS-IGF2_ENST00000481781.1_5'UTR|IGF2_ENST00000300632.5_5'UTR	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		74					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCTCTGGCCAGGTTGACGTGG	0.592000													38	54					0	0	0.014410	0	0
FSHR	2492	broad.mit.edu	37	2	49216169	49216169	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:49216169G>A	ENST00000406846.2	-	6	590	c.471C>T	c.(469-471)atC>atT	p.I157I	FSHR_ENST00000346173.3_Silent_p.I157I|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	157					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAATTGTGTGGATGTTTATGT	0.338000									Gonadal Dysgenesis, 46 XX				9	15					0	0	0.008291	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933578	62933578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62933578C>T	ENST00000306494.6	-	7	1222	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	408					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AAGCATCTGGCTTAGTCGACG	0.478000													19	26					0	0	0.007413	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779660	31779660	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:31779660C>T	ENST00000382902.1	-	9	1373	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	OTUD7A_ENST00000307050.4_Silent_p.L420L			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	420	Catalytic (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTTACTGGGCCAGCCGGGCGT	0.622000													4	12					0	0	0.009096	0	0
NINL	22981	broad.mit.edu	37	20	25481560	25481560	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:25481560G>A	ENST00000278886.6	-	8	1021	c.948C>T	c.(946-948)gaC>gaT	p.D316D	NINL_ENST00000422516.1_Silent_p.D316D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGAACCATCGTCAATGCTGG	0.582000													23	28					0	0	0.014323	0	0
C1R	715	broad.mit.edu	37	12	7242713	7242713	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:7242713G>A	ENST00000542285.1	-	3	509	c.360C>T	c.(358-360)tcC>tcT	p.S120S				P00736	C1R_HUMAN	complement component 1, r subcomponent	121	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTCCTCGTTGGAGAAGTCTG	0.547000													7	9					0	0	0.004482	0	0
INSR	3643	broad.mit.edu	37	19	7267510	7267510	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:7267510G>A	ENST00000341500.5	-	2	537	c.498C>T	c.(496-498)tcC>tcT	p.S166S	INSR_ENST00000302850.5_Silent_p.S166S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	166					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCCTCCACGGAATCCAGGA	0.532000													305	430					0	0	0.014410	0	0
TPTE2	93492	broad.mit.edu	37	13	20038604	20038604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:20038604G>A	ENST00000400230.2	-	10	777	c.733C>T	c.(733-735)Cca>Tca	p.P245S	TPTE2_ENST00000255310.6_Missense_Mutation_p.P168S|TPTE2_ENST00000382977.4_Missense_Mutation_p.P245S|TPTE2_ENST00000457266.2_Missense_Mutation_p.P134S|TPTE2_ENST00000382975.4_Missense_Mutation_p.P205S|TPTE2_ENST00000390680.2_Missense_Mutation_p.P168S|TPTE2_ENST00000382978.1_Missense_Mutation_p.P205S|TPTE2_ENST00000400103.2_Missense_Mutation_p.P134S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	245	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCTCAATTGGATTTCTATAG	0.323000													27	18					0	0	0.010818	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156358	193156358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:193156358G>A	ENST00000342695.4	-	23	2900	c.2578C>T	c.(2578-2580)Cat>Tat	p.H860Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.H841Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	860					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGCCCACATGAGCCATTTTC	0.453000													18	18					0	0	0.004990	0	0
GPR158	57512	broad.mit.edu	37	10	25888089	25888089	+	Silent	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:25888089C>A	ENST00000376351.3	+	11	3893	c.3534C>A	c.(3532-3534)acC>acA	p.T1178T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTTTGAGACCCCAGCTCAAC	0.458000													25	33					9.57634e-11	1.01536e-10	0.003330	1	0
PVRL1	5818	broad.mit.edu	37	11	119549429	119549429	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:119549429G>A	ENST00000264025.3	-	2	656	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Silent_p.F42F|PVRL1_ENST00000341398.2_Silent_p.F42F	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	42	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CTGTGCCGATGAAGCCATACA	0.607000													8	5					0	0	0.003080	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070013	62070013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:62070013C>T	ENST00000354587.3	-	7	1164	c.988G>A	c.(988-990)Gag>Aag	p.E330K	KCNQ2_ENST00000370226.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000344425.5_Missense_Mutation_p.E330K|KCNQ2_ENST00000359125.2_Missense_Mutation_p.E330K|KCNQ2_ENST00000370221.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000344462.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000370222.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000430658.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E330K|KCNQ2_ENST00000360480.3_Missense_Mutation_p.E330K|KCNQ2_ENST00000357249.2_Missense_Mutation_p.E330K			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	330					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGCCTCTTCTCAAAGTGCTTC	0.622000													20	44					0	0	0.010504	0	0
KRT25	147183	broad.mit.edu	37	17	38911513	38911513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:38911513C>T	ENST00000312150.4	-	1	71	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACTGGAAAGTCGAAGAGACAT	0.488000													16	26					0	0	0.004990	0	0
INHBB	3625	broad.mit.edu	37	2	121107433	121107433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:121107433G>A	ENST00000295228.3	+	2	1253	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	403					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GATTGTGGAGGAGTGCGGCTG	0.632000													11	9					0	0	0.010729	0	0
NUP210L	91181	broad.mit.edu	37	1	154108432	154108432	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:154108432C>T	ENST00000368559.3	-	7	938	c.867G>A	c.(865-867)ctG>ctA	p.L289L	NUP210L_ENST00000271854.3_Silent_p.L289L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	289						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAATGTTCCAGGGGAAATT	0.383000													9	24					0	0	0.004482	0	0
DPP10	57628	broad.mit.edu	37	2	116535372	116535372	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:116535372G>A	ENST00000410059.1	+	15	1803	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	DPP10_ENST00000409163.1_Silent_p.L391L|DPP10_ENST00000393147.2_Silent_p.L445L|DPP10_ENST00000310323.8_Silent_p.L434L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	441					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						GTTACTTTCTGAGCACTGAAT	0.408000													25	32					0	0	0.005443	0	0
NPY4R	5540	broad.mit.edu	37	10	47087158	47087158	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:47087158G>A	ENST00000374312.1	+	3	794	c.375G>A	c.(373-375)gtG>gtA	p.V125V	NPY4R_ENST00000395716.1_Silent_p.V125V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GCATGTCGGTGACGGTCTCCA	0.592000													40	272					0	0	0.013114	0	0
CUX2	23316	broad.mit.edu	37	12	111745042	111745042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:111745042G>A	ENST00000261726.6	+	12	1244	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	364						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGACTATGAGGAAATTAAAAC	0.552000													24	32					0	0	0.006320	0	0
ZNF714	148206	broad.mit.edu	37	19	21300609	21300609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:21300609C>T	ENST00000596143.1	+	5	1464	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTTAACCACTCCTCAAAACTT	0.358000													8	13					0	0	0.006214	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476704	28476704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:28476704C>T	ENST00000383768.2	+	4	624	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.H146Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	146	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GGGCGATCCCCATTCAAGATC	0.373000													30	46					0	0	0.009535	0	0
C1orf106	55765	broad.mit.edu	37	1	200868693	200868693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:200868693G>A	ENST00000367342.4	+	3	603	c.403G>A	c.(403-405)Gag>Aag	p.E135K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E50K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	135										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCCTGCCTGGAGGAGCTGAG	0.647000													7	8					0	0	0.003080	0	0
POLA2	23649	broad.mit.edu	37	11	65046214	65046214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:65046214C>T	ENST00000265465.3	+	6	1006	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	159					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TACTCCCTCCCAGAAATACAA	0.443000													63	74					0	0	0.014410	0	0
USP29	57663	broad.mit.edu	37	19	57641439	57641439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:57641439C>T	ENST00000254181.4	+	4	1850	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	USP29_ENST00000598197.1_Missense_Mutation_p.P466S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	466					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAACCACTTCCTTTGTCCAT	0.383000													40	50					0	0	0.004878	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811130	5811130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:5811130C>T	ENST00000381095.3	-	6	2806	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	NLGN4X_ENST00000275857.6_Missense_Mutation_p.E727K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E727K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E747K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	727					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.E727*(1)|p.E727K(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGATCTCTTCGTTCTGGATG	0.552000													25	0					0	0	0.003330	0	0
LMTK3	114783	broad.mit.edu	37	19	49001418	49001418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:49001418C>T	ENST00000600059.1	-	11	3135	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E999K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTTTCTCCTCCCTCCTTGGG	0.642000													64	67					0	0	0.014410	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719417	45719417	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:45719417G>A	ENST00000413988.1	-	9	895	c.855C>T	c.(853-855)ccC>ccT	p.P285P	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Silent_p.P285P	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	285										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGCCAAATGGGGCACCACGG	0.642000													19	27					0	0	0.012319	0	0
TET3	200424	broad.mit.edu	37	2	74274088	74274088	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:74274088G>A	ENST00000409262.3	+	1	639	c.639G>A	c.(637-639)aaG>aaA	p.K213K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	213							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATTGCCAAGGAAAAAAACA	0.607000													19	26					0	0	0.008871	0	0
THOC7	80145	broad.mit.edu	37	3	63823682	63823682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:63823682G>A	ENST00000295899.5	-	4	434	c.322C>T	c.(322-324)Caa>Taa	p.Q108*	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	108	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGTTTTGCTTGAAGAATTTGC	0.318000													22	38					0	0	0.003954	0	0
CD1C	911	broad.mit.edu	37	1	158262110	158262110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:158262110C>T	ENST00000368170.3	+	3	844	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	189					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCCCCGATTTCTCTTGGGTCT	0.453000													136	148					0	0	0.014410	0	0
OR13C8	138802	broad.mit.edu	37	9	107332076	107332076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107332076C>T	ENST00000335040.1	+	1	628	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTGGTTATTCCATTGTTAGT	0.388000													27	58					0	0	0.005443	0	0
SYT16	83851	broad.mit.edu	37	14	62536415	62536415	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:62536415G>A	ENST00000430451.2	+	2	815	c.618G>A	c.(616-618)caG>caA	p.Q206Q	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.Q206Q	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	206										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCCGGTCCCAGAGTTTCCGTT	0.493000													49	66					0	0	0.014410	0	0
CIZ1	25792	broad.mit.edu	37	9	130931699	130931699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:130931699C>T	ENST00000538431.1	-	14	2456	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	CIZ1_ENST00000325721.8_Missense_Mutation_p.D682N|CIZ1_ENST00000277465.4_Missense_Mutation_p.D683N|CIZ1_ENST00000541172.1_Missense_Mutation_p.D610N|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_Missense_Mutation_p.D655N|CIZ1_ENST00000372938.5_Missense_Mutation_p.D711N|CIZ1_ENST00000393608.1_Missense_Mutation_p.D711N|CIZ1_ENST00000357558.5_Missense_Mutation_p.D683N|CIZ1_ENST00000372954.1_Missense_Mutation_p.D631N	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	711						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTGGCTTTGTCCTTATGCCCC	0.542000													19	22					0	0	0.012319	0	0
OR5H1	26341	broad.mit.edu	37	3	97852045	97852045	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97852045C>T	ENST00000354565.2	+	1	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GACTAACCTTCTGTAACTCCA	0.328000													23	36					0	0	0.009535	0	0
TECTA	7007	broad.mit.edu	37	11	121023770	121023770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:121023770C>T	ENST00000392793.1	+	13	4557	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F	TECTA_ENST00000264037.2_Missense_Mutation_p.S1429F			O75443	TECTA_HUMAN	tectorin alpha	1429					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)		GGCTGCTACTCCGATGGCAAA	0.572000													9	18					0	0	0.004482	0	0
ATG13	9776	broad.mit.edu	37	11	46667426	46667426	+	Silent	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:46667426T>C	ENST00000434074.1	+	4	846	c.157T>C	c.(157-159)Tta>Cta	p.L53L	ATG13_ENST00000359513.4_Silent_p.L53L|ATG13_ENST00000526508.1_Silent_p.L53L|ATG13_ENST00000524625.1_Silent_p.L53L|ATG13_ENST00000528494.1_Silent_p.L53L|ATG13_ENST00000530500.1_5'UTR|ATG13_ENST00000451945.1_Silent_p.L53L|ATG13_ENST00000529655.1_Silent_p.L53L|ATG13_ENST00000312040.4_Silent_p.L53L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	53					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCAGTTCAACTTAGCAATCAA	0.443000													22	19					0	0	0.012319	0	0
TRPM6	140803	broad.mit.edu	37	9	77370359	77370359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:77370359C>T	ENST00000451710.3	-	28	5053	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	TRPM6_ENST00000360774.1_Missense_Mutation_p.D1606N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1601N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1606N|TRPM6_ENST00000376872.3_Missense_Mutation_p.D557N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1601N|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1606					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCAACTGGTCACTCTGAGAG	0.428000													24	35					0	0	0.002780	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324524	61324524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:61324524C>T	ENST00000283752.5	-	6	735	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E198K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	198					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAAATTTTTCCTCTTTAGTA	0.294000													19	13					0	0	0.006122	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:100169975G>A	ENST00000524871.1	+	20	2757	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_ENST00000418526.2_Missense_Mutation_p.E749K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E823K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E823K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E823K|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000													8	30					0	0	0.003080	0	0
CFHR3	10878	broad.mit.edu	37	1	196757478	196757478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:196757478G>A	ENST00000471440.2	+	4	637	c.563G>A	c.(562-564)gGa>gAa	p.G188E	CFHR3_ENST00000367425.4_Missense_Mutation_p.G188E|CFHR3_ENST00000391985.3_Intron					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AATTCTTCAGGATCAATTACA	0.323000													30	39					0	0	0.003271	0	0
MYH4	4622	broad.mit.edu	37	17	10353813	10353813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10353813C>T	ENST00000255381.2	-	30	4248	c.4138G>A	c.(4138-4140)Gag>Aag	p.E1380K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1380					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCGTCCGTCTCGTACTTGGTC	0.557000													49	90					0	0	0.014410	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067167	11067167	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:11067167C>T	ENST00000287766.4	+	8	1168	c.747C>T	c.(745-747)atC>atT	p.I249I	SLC6A1_ENST00000536032.1_Silent_p.I71I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	249					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACCCCTACATCATGCTGATCA	0.572000													19	27					0	0	0.012319	0	0
ZNF534	147658	broad.mit.edu	37	19	52942068	52942068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:52942068C>T	ENST00000332323.6	+	4	1455	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	ZNF534_ENST00000433050.1_Missense_Mutation_p.S452F|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAAGTCTTCCCTAACCTAT	0.423000													4	1					0	0	0.000602	0	0
LRIG1	26018	broad.mit.edu	37	3	66433779	66433779	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:66433779C>T	ENST00000383703.3	-	16	2652	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	LRIG1_ENST00000273261.3_Silent_p.V706V|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	706	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGTTTCTCCCACAGATACCA	0.607000													35	52					0	0	0.006230	0	0
TMEM67	91147	broad.mit.edu	37	8	94794663	94794663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:94794663C>T	ENST00000453321.3	+	11	1164	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.S288L	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	369					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGCTTATTCATTTGGAACA	0.303000													24	23					0	0	0.005443	0	0
GABRA6	2559	broad.mit.edu	37	5	161118971	161118971	+	Missense_Mutation	SNP	C	C	T	rs77320885		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:161118971C>T	ENST00000523217.1	+	8	1063	c.821C>T	c.(820-822)aCc>aTc	p.T274I	GABRA6_ENST00000274545.5_Missense_Mutation_p.T284I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	284					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAACTATGACCACTTTGAGC	0.403000										TCGA Ovarian(5;0.080)			33	9					0	0	0.009535	0	0
SREK1	140890	broad.mit.edu	37	5	65470803	65470803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:65470803C>T	ENST00000334121.6	+	10	1673	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.S389F	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	389					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGCAGGAGTTCTTCCAGATCG	0.398000													12	5					0	0	0.006122	0	0
HSPA6	3310	broad.mit.edu	37	1	161496150	161496150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:161496150G>A	ENST00000309758.4	+	1	2115	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	568					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCCGAAGAGGACAGGCGCAA	0.537000													7	8					0	0	0.001984	0	0
ZNF599	148103	broad.mit.edu	37	19	35251394	35251394	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:35251394G>A	ENST00000329285.7	-	4	685	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAAGTTCCTGGAAAGAGGATT	0.438000													28	27					0	0	0.007291	0	0
OR8S1	341568	broad.mit.edu	37	12	48920048	48920048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:48920048C>T	ENST00000310194.1	+	1	634	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGAAACTTCCTTTTGGTCTT	0.532000													21	38					0	0	0.012319	0	0
UBE3A	7337	broad.mit.edu	37	15	25616380	25616380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:25616380G>A	ENST00000232165.3	-	6	1597	c.941C>T	c.(940-942)cCc>cTc	p.P314L	UBE3A_ENST00000566215.1_Missense_Mutation_p.P294L|UBE3A_ENST00000428984.2_Missense_Mutation_p.P294L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.P294L|UBE3A_ENST00000397954.2_Missense_Mutation_p.P317L	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	317					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGCTGCAAGGGGTAGCTTGCT	0.393000													30	27					0	0	0.008361	0	0
KIF2B	84643	broad.mit.edu	37	17	51902255	51902255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:51902255G>A	ENST00000268919.4	+	1	2017	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	621					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAATGGCTGGAAAACATCCA	0.453000													40	49					0	0	0.009718	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176313	173176313	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:173176313C>T	ENST00000281834.3	-	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	1					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGACCCTTTCCATCTTCACAA	0.473000													28	46					0	0	0.008361	0	0
IL20RA	53832	broad.mit.edu	37	6	137329796	137329796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:137329796C>T	ENST00000367748.1	-	4	917	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	IL20RA_ENST00000541547.1_Missense_Mutation_p.V173I|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.V222I			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	222	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GGCCCTGGGACGAAGGACTCC	0.542000													37	56					0	0	0.004878	0	0
LPHN1	22859	broad.mit.edu	37	19	14269966	14269966	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:14269966C>T	ENST00000340736.6	-	12	2397	c.2100G>A	c.(2098-2100)gaG>gaA	p.E700E	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.E695E|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	700					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCGGGTACTCCTCCTGGGGGA	0.612000													36	59					0	0	0.003271	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825083	26825083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:26825083G>A	ENST00000376236.4	+	10	1436	c.981G>A	c.(979-981)tgG>tgA	p.W327*		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	327	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAATCCTGGAAAAGGCGCT	0.363000													53	86					0	0	0.014410	0	0
LRRC15	131578	broad.mit.edu	37	3	194081166	194081166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:194081166G>A	ENST00000347624.3	-	2	692	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	LRRC15_ENST00000439944.2_Missense_Mutation_p.R209W|LRRC15_ENST00000428839.1_Missense_Mutation_p.R209W	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	203						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGGAGGACCTGG	0.562000													95	93					0	0	0.014410	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590315	140590315	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140590315C>T	ENST00000239450.2	+	1	2025	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PCDHB12_ENST00000541609.1_Silent_p.P275P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		612	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P612P(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTATTCG	0.701000													47	44					0	0	0.014410	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500401	220500401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220500401C>T	ENST00000358055.3	+	14	2491	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F	SLC4A3_ENST00000273063.6_Missense_Mutation_p.S687F|SLC4A3_ENST00000317151.3_Missense_Mutation_p.S660F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S687F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S660F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	660					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGAACTGTCTTTGGAGTTG	0.637000													9	11					0	0	0.004482	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620754	41620754	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:41620754C>T	ENST00000216237.5	+	10	1358	c.1200C>T	c.(1198-1200)caC>caT	p.H400H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	400					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCCCATCACCCCACCTTCC	0.572000													19	22					0	0	0.002780	0	0
PTPRN	5798	broad.mit.edu	37	2	220167369	220167369	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220167369G>A	ENST00000295718.2	-	5	808	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	PTPRN_ENST00000409251.3_Silent_p.L190L|PTPRN_ENST00000423636.2_Silent_p.L100L|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	190					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTGGGGGCAGCAGCAGGTGC	0.627000													30	33					0	0	0.003755	0	0
CTNND2	1501	broad.mit.edu	37	5	11236916	11236916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:11236916G>A	ENST00000304623.8	-	10	1837	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	CTNND2_ENST00000458100.2_Missense_Mutation_p.P117S|CTNND2_ENST00000503622.1_Missense_Mutation_p.P213S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P459S|CTNND2_ENST00000359640.2_Missense_Mutation_p.P550S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	550					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCAGTTCCGGGTCTCTCCAT	0.478000													34	11					0	0	0.006230	0	0
OR6M1	390261	broad.mit.edu	37	11	123676143	123676143	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:123676143G>A	ENST00000309154.2	-	1	952	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCAAGGTCATGATTCTGTTCA	0.388000													24	57					0	0	0.004656	0	0
SESN1	27244	broad.mit.edu	37	6	109319926	109319926	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:109319926G>A	ENST00000436639.2	-	5	1507	c.762C>T	c.(760-762)tcC>tcT	p.S254S	SESN1_ENST00000302071.2_Silent_p.S129S|SESN1_ENST00000356644.7_Silent_p.S195S|RP11-787I22.3_ENST00000605885.1_RNA	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	195					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATTCCGCAAGGGACCAGCTGT	0.388000													35	37					0	0	0.004289	0	0
ALPK1	80216	broad.mit.edu	37	4	113362185	113362185	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:113362185C>T	ENST00000458497.1	+	15	3930	c.3651C>T	c.(3649-3651)ttC>ttT	p.F1217F	ALPK1_ENST00000504176.2_Silent_p.F1139F|ALPK1_ENST00000177648.9_Silent_p.F1217F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1217	Alpha-type protein kinase.						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)		TTTTTTACTTCTTTAATAACC	0.383000													53	54					0	0	0.014410	0	0
PARP4	143	broad.mit.edu	37	13	25008897	25008897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:25008897G>A	ENST00000381989.3	-	31	4487	c.4382C>T	c.(4381-4383)cCt>cTt	p.P1461L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1461					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAAATGAAAAGGAGAGGAAGC	0.517000													5	20					0	0	0.000602	0	0
CRH	1392	broad.mit.edu	37	8	67089270	67089270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:67089270G>A	ENST00000276571.3	-	2	889	c.443C>T	c.(442-444)cCg>cTg	p.P148L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	148					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TTCTCTCTCCGGTGCCTCCTG	0.677000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	0.009096	0	0
HAO2	51179	broad.mit.edu	37	1	119929351	119929351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:119929351G>A	ENST00000361035.4	+	6	990	c.707G>A	c.(706-708)gGg>gAg	p.G236E	HAO2_ENST00000325945.3_Missense_Mutation_p.G223E	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	223	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATCCTGAAAGGGATTTTGACA	0.458000													88	9					0	0	0.014410	0	0
CAMK1D	57118	broad.mit.edu	37	10	12708735	12708735	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:12708735G>A	ENST00000378847.3	+	3	562	c.224_splice	c.e3-1	p.K75_splice	CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Splice_Site_p.K75_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	75	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTTTTTCAGGATTAAGCATG	0.343000													159	211					0	0	0.014410	0	0
EPHB3	2049	broad.mit.edu	37	3	184298381	184298381	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:184298381C>T	ENST00000330394.2	+	12	2816	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	788	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGACCCCTCCGATCCTACCT	0.647000													24	41					0	0	0.003330	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496229	153496229	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:153496229C>T	ENST00000369929.4	+	5	1017	c.957C>T	c.(955-957)ccC>ccT	p.P319P		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTACAACCCCGTTATCTATG	0.547000													49	83					0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762825	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:92762825G>A	ENST00000318238.4	-	5	3676	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	SAMD9L_ENST00000437805.1_Silent_p.S820S|SAMD9L_ENST00000411955.1_Silent_p.S820S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378000													33	43					0	0	0.009535	0	0
INPP5D	3635	broad.mit.edu	37	2	233995348	233995348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233995348G>A	ENST00000359570.5	+	5	655	c.655G>A	c.(655-657)Gag>Aag	p.E219K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E219K|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	219					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTCTGCAAGGAGCTCTATGG	0.577000													23	24					0	0	0.003954	0	0
CNTN5	53942	broad.mit.edu	37	11	99827605	99827605	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:99827605C>T	ENST00000524871.1	+	8	1031	c.741C>T	c.(739-741)atC>atT	p.I247I	CNTN5_ENST00000418526.2_Silent_p.I173I|CNTN5_ENST00000279463.3_Silent_p.I247I|CNTN5_ENST00000528682.1_Silent_p.I247I|CNTN5_ENST00000527185.1_Silent_p.I247I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	247	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGCGGTTCATCTCCCAGGAGA	0.428000													22	36					0	0	0.014323	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537620	28537620	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:28537620G>A	ENST00000401766.2	-	10	1874	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SLC6A4_ENST00000261707.3_Silent_p.F454F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	454					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGACGTGTGGGAACTCATCCA	0.592000													46	53					0	0	0.014410	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718389	2718389	+	Silent	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:2718389A>T	ENST00000320876.6	+	19	2753	c.2415A>T	c.(2413-2415)gcA>gcT	p.A805A	SMCHD1_ENST00000261598.8_Silent_p.A805A|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	805					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACACTTATGCAGGAAGACCAC	0.289000													28	36					0	0	0.009535	0	0
C3orf17	25871	broad.mit.edu	37	3	112729989	112729989	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:112729989G>A	ENST00000314400.5	-	6	1007	c.816C>T	c.(814-816)acC>acT	p.T272T	C3orf17_ENST00000393857.2_Silent_p.T136T|C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000383675.2_Silent_p.T202T	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	272						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTCCAAGCAAGGTTTCTTCAC	0.323000													15	23					0	0	0.002450	0	0
REG3A	5068	broad.mit.edu	37	2	79384420	79384420	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:79384420C>T	ENST00000393878.1	-	5	715		c.e5-1		REG3A_ENST00000409839.3_Splice_Site|REG3A_ENST00000305165.2_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTCAGAAATGCTGGAGAGACA	0.468000													20	26					0	0	0.010504	0	0
VDAC2	7417	broad.mit.edu	37	10	76990717	76990717	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:76990717G>A	ENST00000535553.1	+	11	1094	c.738G>A	c.(736-738)aaG>aaA	p.K246K	VDAC2_ENST00000313132.4_Silent_p.K300K|VDAC2_ENST00000543351.1_Silent_p.K285K|VDAC2_ENST00000332211.6_Silent_p.K285K			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	285						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GAGGCCACAAGGTTGGGCTCG	0.428000											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					0	0	0.001855	0	0
MGAT3	4248	broad.mit.edu	37	22	39884257	39884257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:39884257C>T	ENST00000341184.6	+	2	1120	c.905C>T	c.(904-906)tCg>tTg	p.S302L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	302					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GACGGCGTCTCGCGGCTGCGC	0.662000													56	53					0	0	0.014410	0	0
KDM5A	5927	broad.mit.edu	37	12	416839	416839	+	Silent	SNP	G	G	A	rs61750262		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:416839G>A	ENST00000399788.2	-	23	4073	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	KDM5A_ENST00000382815.4_Silent_p.P1237P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1237					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCAACCGTACGGGCAACTTCT	0.507000			T	NUP98	AML								31	33					0	0	0.013726	0	0
CFTR	1080	broad.mit.edu	37	7	117251758	117251758	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:117251758A>G	ENST00000003084.6	+	20	3395	c.3263A>G	c.(3262-3264)aAc>aGc	p.N1088S	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.N1027S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1088	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATACTGCCAACTGGTTCTTG	0.403000									Cystic Fibrosis				18	17					0	0	0.006122	0	0
PRKACG	5568	broad.mit.edu	37	9	71628256	71628256	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:71628256G>A	ENST00000377276.2	-	1	783	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	251	Protein kinase.		I -> N.		activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCCAGAGACGATCTTCTCGT	0.612000													36	35					0	0	0.005524	0	0
SCN3A	6328	broad.mit.edu	37	2	165948804	165948804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:165948804C>T	ENST00000360093.3	-	27	5258	c.4767G>A	c.(4765-4767)tgG>tgA	p.W1589*	SCN3A_ENST00000540861.1_Nonsense_Mutation_p.W72*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1540*|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1589*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1589						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAAGATGTTCCAGCCTATAG	0.433000													20	37					0	0	0.007413	0	0
RPA4	29935	broad.mit.edu	37	X	96139470	96139470	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:96139470T>A	ENST00000373040.3	+	1	564	c.161T>A	c.(160-162)cTt>cAt	p.L54H	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	54					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTGAACCAGCTTCTCAGCTCT	0.493000								Other identified genes with known or suspected DNA repair function					34	3					0	0	0.005524	0	0
FOXC2	2303	broad.mit.edu	37	16	86601502	86601502	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:86601502C>T	ENST00000320354.4	+	1	646	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	187					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AGGAGCCGCCCCCGGCGGCGT	0.697000									Late-onset Hereditary Lymphedema				14	20					0	0	0.002450	0	0
LPHN1	22859	broad.mit.edu	37	19	14269965	14269965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:14269965C>T	ENST00000340736.6	-	12	2398	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E696K|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	701					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCGGGTACTCCTCCTGGGGG	0.612000													36	59					0	0	0.003271	0	0
IL1R1	3554	broad.mit.edu	37	2	102793102	102793102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:102793102G>A	ENST00000410023.1	+	12	1911	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	IL1R1_ENST00000409929.1_Nonsense_Mutation_p.W500*|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Nonsense_Mutation_p.W531*			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	531	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAGGTTCTGGAAGAATGTCA	0.483000													20	26					0	0	0.007413	0	0
OR10G7	390265	broad.mit.edu	37	11	123908965	123908965	+	Silent	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:123908965A>C	ENST00000330487.5	-	1	752	c.744T>G	c.(742-744)ctT>ctG	p.L248L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		CAAAGAAGCAAAGGACCACGA	0.562000													21	32					0	0	0.014323	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:8486289C>T	ENST00000447869.1	-	3	1338	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_ENST00000396672.1_Silent_p.T140T|STK33_ENST00000396673.1_Silent_p.T140T|STK33_ENST00000534493.1_Silent_p.T99T|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.T140T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000													32	40					0	0	0.003271	0	0
PARD3	56288	broad.mit.edu	37	10	34606232	34606232	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:34606232C>T	ENST00000374789.3	-	20	3202	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G	PARD3_ENST00000374788.3_Silent_p.G956G|PARD3_ENST00000374790.3_Silent_p.G899G|PARD3_ENST00000545693.1_Silent_p.G943G|PARD3_ENST00000374776.1_Silent_p.G913G|PARD3_ENST00000544292.1_Silent_p.G672G|PARD3_ENST00000350537.4_Silent_p.G913G|PARD3_ENST00000374773.1_Silent_p.G926G|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Silent_p.G884G|PARD3_ENST00000340077.5_Silent_p.G956G|PARD3_ENST00000346874.4_Silent_p.G959G|PARD3_ENST00000545260.1_Silent_p.G869G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	959					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGACTCTCTCCCTGATCTTG	0.398000													36	52					0	0	0.006999	0	0
GLB1L	79411	broad.mit.edu	37	2	220104815	220104815	+	Splice_Site	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220104815A>T	ENST00000295759.7	-	7	861	c.546_splice	c.e7-1	p.V183_splice	GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Splice_Site_p.V183_splice|GLB1L_ENST00000497855.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	183					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCATTCTCCACCTGCCAGAG	0.542000													21	26					0	0	0.010504	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133652	66133652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:66133652G>A	ENST00000311161.7	-	9	893	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	SLC29A2_ENST00000357440.2_Silent_p.S306S|SLC29A2_ENST00000546034.1_Silent_p.S306S|SLC29A2_ENST00000544554.1_Silent_p.S306S			Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	0					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CGGGGAAGACGGACAGGGTGA	0.637000													11	19					0	0	0.004990	0	0
ATRNL1	26033	broad.mit.edu	37	10	116887370	116887370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:116887370C>T	ENST00000355044.3	+	4	631	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ATRNL1_ENST00000527407.1_Missense_Mutation_p.P169S|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	169	CUB.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTGATAGTCCCTGAAATAAG	0.328000													12	13					0	0	0.013537	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596928	142596928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:142596928C>T	ENST00000370503.2	-	2	225	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	48										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGATATTCTGATGTTTTT	0.378000													40	3					0	0	0.008740	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822793	56822793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:56822793G>A	ENST00000229201.4	-	11	1329	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	TIMELESS_ENST00000553532.1_Missense_Mutation_p.S393F|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	393					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGCCGGAAGGAGGCAGCTCG	0.522000													27	34					0	0	0.005443	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124340	142124340	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142124340C>T	ENST00000390376.2	-	0	137																											ATCCATGGTTCATATCCTGGG	0.507000													30	52					0	0	0.009535	0	0
CWF19L1	55280	broad.mit.edu	37	10	102013297	102013297	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:102013297C>T	ENST00000354105.4	-	6	591		c.e6-1		CWF19L1_ENST00000478047.1_5'UTR	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)								catalytic activity	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CCACTTCTCCCTAGTAAACAA	0.338000													31	38					0	0	0.010818	0	0
COL21A1	81578	broad.mit.edu	37	6	55990415	55990415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:55990415C>T	ENST00000244728.5	-	14	1997	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E531K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E534K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	534					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCACCCATTTCACCCTAAAAG	0.274000													6	6					0	0	0.001984	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057112	103057112	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:103057112A>C	ENST00000375735.2	+	42	6919	c.6775A>C	c.(6775-6777)Act>Cct	p.T2259P	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2259P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2259	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACGGCTTAACTCTTCCAGT	0.418000													31	26					0	0	0.012213	0	0
BRINP1	1620	broad.mit.edu	37	9	121929941	121929941	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:121929941C>T	ENST00000265922.3	-	8	2168	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		569					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCGAATGGCTCCCGCTAAAGG	0.547000													22	31					0	0	0.012319	0	0
ST14	6768	broad.mit.edu	37	11	130060463	130060463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:130060463G>A	ENST00000278742.5	+	7	1167	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	250	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCCTGCGGGGGGACGCCGAC	0.697000													18	18					0	0	0.010504	0	0
NIT2	56954	broad.mit.edu	37	3	100073618	100073618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:100073618G>A	ENST00000394140.3	+	9	777	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	229	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTTTTCAGGGGGGAGGTTCTA	0.453000													26	29					0	0	0.004656	0	0
AHNAK	79026	broad.mit.edu	37	11	62294664	62294664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:62294664G>A	ENST00000378024.4	-	5	7499	c.7225C>T	c.(7225-7227)Ccc>Tcc	p.P2409S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2409					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)				TCCAATTTGGGAACATCTACA	0.483000													17	44					0	0	0.004990	0	0
STK36	27148	broad.mit.edu	37	2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000440309.1_Missense_Mutation_p.A1006V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1006					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547000													52	58					0	0	0.014410	0	0
CD5L	922	broad.mit.edu	37	1	157803038	157803038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:157803038C>T	ENST00000368174.4	-	5	1079	c.983G>A	c.(982-984)aGa>aAa	p.R328K		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	328	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCCCAAAATCTGTGCTGGCA	0.562000													50	44					0	0	0.014410	0	0
TRDV1	28518	broad.mit.edu	37	14	22564685	22564685	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:22564685G>A	ENST00000390452.2	+	0	154																											CTGCCTGTATGAAACAAGTTG	0.438000													69	81					0	0	0.014410	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782949	140782949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140782949G>A	ENST00000573521.1	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTAACGAAATCGCGGT	0.473000													43	15					0	0	0.007835	0	0
TCERG1	10915	broad.mit.edu	37	5	145878238	145878238	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:145878238A>G	ENST00000296702.5	+	16	2409	c.2371A>G	c.(2371-2373)Aga>Gga	p.R791G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R770G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	791					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGAAGACCAGAGGTGAGAA	0.403000													14	4					0	0	0.004990	0	0
NFKB1	4790	broad.mit.edu	37	4	103537644	103537644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:103537644C>T	ENST00000226574.4	+	24	3270	c.2803C>T	c.(2803-2805)Cgc>Tgc	p.R935C	NFKB1_ENST00000394820.4_Missense_Mutation_p.R934C|NFKB1_ENST00000600343.1_Missense_Mutation_p.R754C|NFKB1_ENST00000505458.1_Missense_Mutation_p.R934C	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	934	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GACATCCTTCCGCAAACTCAG	0.542000													46	63					0	0	0.014410	0	0
OR10A6	390093	broad.mit.edu	37	11	7950066	7950066	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:7950066G>A	ENST00000309838.2	-	1	143	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTAGGGAGACGATGACTATAA	0.468000													43	45					0	0	0.009718	0	0
MMP26	56547	broad.mit.edu	37	11	5012670	5012670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5012670G>A	ENST00000380390.1	+	5	755	c.539G>A	c.(538-540)gGa>gAa	p.G180E	MMP26_ENST00000300762.1_Missense_Mutation_p.G180E			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	180					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G180E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAAATTCTGGAAATCCTGGA	0.473000													61	105					0	0	0.014410	0	0
OIT3	170392	broad.mit.edu	37	10	74658754	74658754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:74658754C>T	ENST00000334011.5	+	2	612	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	132						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTATGTGTATCGTCTGACCAA	0.547000													32	47					0	0	0.006999	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823044	16823044	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:16823044C>T	ENST00000262067.4	+	6	976	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	181						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CATTCCAGATCCTGGGTGTTT	0.373000													36	48					0	0	0.003271	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421805	89421805	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:89421805G>A	ENST00000532352.1	+	0	1475							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAACGACTTGGAATTGCTTCA	0.299000													60	67					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137715	40137715	+	Missense_Mutation	SNP	C	C	T	rs141998335		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:40137715C>T	ENST00000278198.2	-	2	2091	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	43					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTCTGAGCCCGCACCAGACC	0.547000													18	12					0	0	0.006122	0	0
GNL1	2794	broad.mit.edu	37	6	30515241	30515241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:30515241G>A	ENST00000376621.3	-	9	2136	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	389	G.				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CGGGGTTCTGGAGACACTCAC	0.527000													135	16					0	0	0.014410	0	0
MIR197	406974	broad.mit.edu	37	1	110141570	110141570	+	RNA	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:110141570C>A	ENST00000384976.2	+	0	56					NR_029583.1																						CCTTCACCACCTTCTCCACCC	0.567000													33	47					8.4185e-14	8.96574e-14	0.012213	1	0
NLRP5	126206	broad.mit.edu	37	19	56515139	56515139	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56515139C>T	ENST00000390649.3	+	2	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	40						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATCCACTTTTCCCCCAAAACC	0.438000													45	58					0	0	0.013114	0	0
FAT3	120114	broad.mit.edu	37	11	92523341	92523341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92523341G>A	ENST00000298047.6	+	7	4585	c.4568G>A	c.(4567-4569)aGg>aAg	p.R1523K	FAT3_ENST00000409404.2_Missense_Mutation_p.R1523K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1373K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1523	Cadherin 14.				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)				ACTGCCGAGAGGCTGGACCAT	0.498000										TCGA Ovarian(4;0.039)			157	295					0	0	0.014410	0	0
PRF1	5551	broad.mit.edu	37	10	72358252	72358252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:72358252G>A	ENST00000441259.1	-	3	1385	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	PRF1_ENST00000373209.2_Missense_Mutation_p.P409S	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	409					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCTGCCGAGGGCAGCAGTCC	0.667000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				14	19					0	0	0.001855	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995067	51995067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:51995067G>A	ENST00000291707.3	-	8	1671	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S421F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	539					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCTGCCGGGGATTCAATCAG	0.612000													25	20					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9089658	9089658	+	Silent	SNP	C	C	T	rs147920442	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:9089658C>T	ENST00000397910.4	-	1	2360	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	719	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGCTTATCTTGGTGTGTC	0.488000													32	50					0	0	0.013726	0	0
FGFR3	2261	broad.mit.edu	37	4	1808298	1808298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:1808298G>A	ENST00000340107.4	+	16	2318	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	FGFR3_ENST00000260795.2_Missense_Mutation_p.E686K|FGFR3_ENST00000481110.2_Missense_Mutation_p.G663E|FGFR3_ENST00000440486.2_Missense_Mutation_p.E686K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E574K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E574K	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	686	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.E686K(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCTCTGGGAGATCTTCAC	0.652000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				11	28					0	0	0.008291	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164554	72164554	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:72164554C>T	ENST00000537465.1	-	11	1688	c.1530G>A	c.(1528-1530)agG>agA	p.R510R	PMFBP1_ENST00000237353.10_Silent_p.R505R|PMFBP1_ENST00000355636.6_Silent_p.R360R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	510										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGCAGTTTCCTCTGGGTGT	0.567000													19	31					0	0	0.007413	0	0
ADH7	131	broad.mit.edu	37	4	100350759	100350759	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:100350759T>C	ENST00000437033.2	-	2	553	c.50A>G	c.(49-51)gAg>gGg	p.E17G	ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000209665.4_Missense_Mutation_p.E29G|ADH7_ENST00000476959.1_Missense_Mutation_p.E37G			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	29					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGCTTCTGCTCCCAAAGCAC	0.413000													8	12					0	0	0.010729	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406625	105406625	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:105406625C>A	ENST00000333244.5	-	7	15282	c.15163G>T	c.(15163-15165)Ggg>Tgg	p.G5055W	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						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)			AAGCTACCCCCTGCTGTGGCA	0.542000													38	80					1.67305e-13	1.78022e-13	0.006230	1	0
TRPC5	7224	broad.mit.edu	37	X	111195414	111195414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:111195414C>T	ENST00000262839.2	-	2	1153	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	79					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCGTTCTCAATGGCAATG	0.532000													44	8					0	0	0.013114	0	0
DSP	1832	broad.mit.edu	37	6	7578051	7578051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:7578051G>A	ENST00000379802.3	+	21	3258	c.2917G>A	c.(2917-2919)Gaa>Aaa	p.E973K	DSP_ENST00000418664.2_Missense_Mutation_p.E973K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	973	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAGGACTGGAAACTCTGCT	0.418000													108	11					0	0	0.014410	0	0
COBL	23242	broad.mit.edu	37	7	51096201	51096201	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:51096201G>A	ENST00000395542.2	-	12	3022	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	COBL_ENST00000265136.7_Silent_p.S864S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	864										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)					CATACTGGCTGGACGTTCTTC	0.572000													44	70					0	0	0.011902	0	0
EPHA3	2042	broad.mit.edu	37	3	89528570	89528570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:89528570C>T	ENST00000336596.2	+	17	3095	c.2870C>T	c.(2869-2871)aCc>aTc	p.T957I	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	957	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTGGTGTCACCGTGGTTGGG	0.413000										TSP Lung(6;0.00050)			24	39					0	0	0.005443	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141197	63141197	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:63141197C>T	ENST00000279178.3	+	3	837	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	196					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCCACCTTCCTCATTTACT	0.463000													28	44					0	0	0.009535	0	0
NUP210L	91181	broad.mit.edu	37	1	154002385	154002385	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:154002385T>A	ENST00000368559.3	-	28	3913	c.3842A>T	c.(3841-3843)gAa>gTa	p.E1281V	NUP210L_ENST00000368553.1_Missense_Mutation_p.E214V|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1281V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1281						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATCTGTACTTCATCAGAGAG	0.398000													20	30					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179427187	179427187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179427187C>T	ENST00000589042.1	-	326	83896	c.83672G>A	c.(83671-83673)gGt>gAt	p.G27891D	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18951D|TTN_ENST00000342175.6_Missense_Mutation_p.G19018D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26250D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25323D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18826D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26250							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTGCCACCATCACTTTC	0.433000													24	34					0	0	0.002780	0	0
XPO4	64328	broad.mit.edu	37	13	21417979	21417979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:21417979G>A	ENST00000400602.2	-	5	538	c.503C>T	c.(502-504)tCa>tTa	p.S168L	XPO4_ENST00000255305.6_Missense_Mutation_p.S168L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	168					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACTTGAACTTGAAAATTCACT	0.343000													19	29					0	0	0.006122	0	0
OR14K1	343170	broad.mit.edu	37	1	247902051	247902051	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:247902051C>T	ENST00000283225.2	+	1	135	c.135C>T	c.(133-135)ctC>ctT	p.L45L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCATCATTCTCCTCATGATTC	0.458000													33	40					0	0	0.012213	0	0
GLB1L	79411	broad.mit.edu	37	2	220104816	220104816	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:220104816C>T	ENST00000295759.7	-	7	860	c.546_splice	c.e7-1	p.V183_splice	GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Splice_Site_p.V183_splice|GLB1L_ENST00000497855.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	183					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATTCTCCACCTGCCAGAGG	0.537000													21	25					0	0	0.012319	0	0
IDH3A	3419	broad.mit.edu	37	15	78453956	78453956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:78453956C>T	ENST00000299518.2	+	5	406	c.323C>T	c.(322-324)cCa>cTa	p.P108L	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_5'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	108					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GCCGGTCACCCATCTATGAAT	0.453000													18	43					0	0	0.007413	0	0
DNAH9	1770	broad.mit.edu	37	17	11713572	11713572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:11713572G>A	ENST00000262442.3	+	45	8661	c.8593G>A	c.(8593-8595)Gcc>Acc	p.A2865T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2865T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2865	AAA 4 (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)		GATGGACCTGGCCAGCCTGTG	0.448000													35	46					0	0	0.003755	0	0
IL17RE	132014	broad.mit.edu	37	3	9945733	9945733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9945733C>T	ENST00000454190.2	+	3	251	c.166C>T	c.(166-168)Cct>Tct	p.P56S	IL17RE_ENST00000383814.3_Missense_Mutation_p.P56S|IL17RE_ENST00000421412.1_Missense_Mutation_p.P89S|IL17RE_ENST00000295980.3_Missense_Mutation_p.P56S	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	56						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGCCTATATCCCTTGCCGCAC	0.547000													94	146					0	0	0.014410	0	0
ILDR2	387597	broad.mit.edu	37	1	166927321	166927321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:166927321G>A	ENST00000271417.3	-	2	119	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	ILDR2_ENST00000528703.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000529387.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.Q22*|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.Q22*	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	22	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACTGTGACCTGAAGGCCTTCG	0.517000													43	71					0	0	0.008740	0	0
OTOGL	283310	broad.mit.edu	37	12	80623121	80623121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:80623121C>T	ENST00000458043.2	+	7	553	c.547C>T	c.(547-549)Cga>Tga	p.R183*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.R183*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGGAAATTCGAATTTATGG	0.348000													30	41					0	0	0.007291	0	0
AADACL3	126767	broad.mit.edu	37	1	12785267	12785267	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:12785267C>T	ENST00000332530.3	+	3	373	c.147C>T	c.(145-147)tcC>tcT	p.S49S	AADACL3_ENST00000359318.5_Silent_p.S119S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	119							hydrolase activity	p.S119S(1)|p.S49S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGAAGTCCCTGGATGCAT	0.512000													49	69					0	0	0.014410	0	0
BTNL2	56244	broad.mit.edu	37	6	32372808	32372808	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:32372808T>A	ENST00000454136.3	-	2	339	c.335A>T	c.(334-336)cAc>cTc	p.H112L	BTNL2_ENST00000429232.2_Missense_Mutation_p.H112L|BTNL2_ENST00000374993.1_Missense_Mutation_p.H112L|BTNL2_ENST00000374995.3_Missense_Mutation_p.H112L|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	112	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGGATGTTGTGTATCTTCAG	0.488000													120	20					0	0	0.014410	0	0
CES3	23491	broad.mit.edu	37	16	67006383	67006383	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67006383C>T	ENST00000303334.4	+	11	1487	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CES3_ENST00000543856.1_Silent_p.F111F|CES3_ENST00000394037.1_Silent_p.F472F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	472						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GAGGTCCCTTCCTCATGGACG	0.582000													44	71					0	0	0.014410	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737023	142737023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:142737023G>A	ENST00000230173.6	+	20	3236	c.2760G>A	c.(2758-2760)tgG>tgA	p.W920*	GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892*	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TAGATGGCTGGATCACCTCCT	0.468000													43	70					0	0	0.010771	0	0
SUPT16H	11198	broad.mit.edu	37	14	21827667	21827667	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21827667G>A	ENST00000216297.2	-	19	2615	c.2277C>T	c.(2275-2277)gaC>gaT	p.D759D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	759					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGTCATCTCGGTCATGCATAT	0.463000													29	49					0	0	0.007291	0	0
MYH15	22989	broad.mit.edu	37	3	108133252	108133252	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:108133252G>A	ENST00000273353.3	-	31	4088	c.4032C>T	c.(4030-4032)gcC>gcT	p.A1344A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1344						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTTCTGCAGGGCATGGGCCA	0.488000													16	19					0	0	0.004007	0	0
NMBR	4829	broad.mit.edu	37	6	142409773	142409773	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:142409773T>C	ENST00000258042.1	-	1	163	c.23A>G	c.(22-24)aAc>aGc	p.N8S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACCGAGAGGTTGGAAAGAGA	0.607000													15	26					0	0	0.004007	0	0
MBD5	55777	broad.mit.edu	37	2	149248107	149248107	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:149248107T>A	ENST00000407073.1	+	12	5204	c.4207T>A	c.(4207-4209)Tta>Ata	p.L1403I	MBD5_ENST00000404807.1_Missense_Mutation_p.L1636I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1403	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTGGAAAATTAGTAAGAGA	0.428000													38	36					0	0	0.004878	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236547	103236547	+	Silent	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:103236547C>A	ENST00000233969.2	+	1	382	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	80						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACGTGCAGATCCCCTTCGAGA	0.642000													19	24					0.000295444	0.000310229	0.014323	1	0
FBXW10	10517	broad.mit.edu	37	17	18654336	18654336	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:18654336G>A	ENST00000308799.4	+	4	1398	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	FBXW10_ENST00000395667.1_Silent_p.V364V|FBXW10_ENST00000301938.4_Silent_p.V364V|FBXW10_ENST00000395665.4_Silent_p.V364V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	364										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCATGCGTGTGAAACATCCGA	0.463000													62	106					0	0	0.014410	0	0
WDR36	134430	broad.mit.edu	37	5	110446899	110446899	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:110446899C>T	ENST00000506538.2	+	15	2379	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	WDR36_ENST00000513710.2_Silent_p.F602F|WDR36_ENST00000505303.1_Silent_p.F546F	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	602					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGATGACTTCTCCATTAGTG	0.378000													103	25					0	0	0.014410	0	0
OR52J3	119679	broad.mit.edu	37	11	5068546	5068546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:5068546G>A	ENST00000380370.1	+	1	791	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264L(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTACTCATCGATTTGGACAC	0.443000													38	56					0	0	0.007835	0	0
ACTL8	81569	broad.mit.edu	37	1	18152483	18152483	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:18152483G>A	ENST00000375406.1	+	3	786	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	190						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GTCTCTTTAAGGAAGATTGCG	0.602000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	5					0	0	0.007835	0	0
OR14C36	127066	broad.mit.edu	37	1	248512159	248512159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:248512159C>T	ENST00000317861.1	+	1	83	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTCTGCATCCTTCTTTATG	0.443000													37	54					0	0	0.006230	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													5	78					0	0	0.000602	0	0
AMPH	273	broad.mit.edu	37	7	38424445	38424445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:38424445C>T	ENST00000356264.2	-	21	2277	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	AMPH_ENST00000325590.5_Missense_Mutation_p.E646K|AMPH_ENST00000428293.2_Missense_Mutation_p.E646K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	688	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGAAGTTCTCTGGAAAGAGG	0.468000													38	54					0	0	0.008740	0	0
MYCBP2	23077	broad.mit.edu	37	13	77641724	77641724	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:77641724G>A	ENST00000407578.2	-	71	12713	c.12447C>T	c.(12445-12447)ttC>ttT	p.F4149F	MYCBP2_ENST00000544440.2_Silent_p.F4111F|MYCBP2_ENST00000357337.6_Silent_p.F4111F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGGAATTGAAAATCATCG	0.388000													56	69					0	0	0.014410	0	0
BTNL2	56244	broad.mit.edu	37	6	32372809	32372809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:32372809G>A	ENST00000454136.3	-	2	338	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	BTNL2_ENST00000429232.2_Missense_Mutation_p.H112Y|BTNL2_ENST00000374993.1_Missense_Mutation_p.H112Y|BTNL2_ENST00000374995.3_Missense_Mutation_p.H112Y|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	112	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGGATGTTGTGTATCTTCAGT	0.493000													122	20					0	0	0.014410	0	0
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:38038579C>T	ENST00000283713.6	+	6	728	c.462C>T	c.(460-462)tcC>tcT	p.S154S	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	58					0	0	0.012213	0	0
DPH1	1801	broad.mit.edu	37	17	1943100	1943100	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:1943100C>T	ENST00000263083.6	+	7	792	c.747C>T	c.(745-747)ccC>ccT	p.P249P	DPH1_ENST00000570477.1_Silent_p.P169P	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	249					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTGCCAACCCCAATGTCCCCG	0.592000													57	77					0	0	0.014410	0	0
COLEC10	10584	broad.mit.edu	37	8	120103388	120103388	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:120103388G>A	ENST00000332843.2	+	3	262	c.220_splice	c.e3-1	p.G74_splice	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	74	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGCTTTTCAGGAATTAAAGGA	0.373000													14	20					0	0	0.004007	0	0
ASIC2	40	broad.mit.edu	37	17	32483160	32483160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:32483160G>A	ENST00000359872.6	-	1	1153	c.392C>T	c.(391-393)cCc>cTc	p.P131L		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	131					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAGCACGGAGGGGTCAGCCAG	0.617000													54	69					0	0	0.014410	0	0
STAB2	55576	broad.mit.edu	37	12	104140468	104140468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:104140468G>A	ENST00000388887.2	+	58	6434	c.6230G>A	c.(6229-6231)gGa>gAa	p.G2077E	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2077	EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGGTGACGGAATCACATGC	0.512000													80	73					0	0	0.014410	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594046	9594046	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:9594046G>A	ENST00000287585.6	-	2	603	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	106						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TGCAGCCGAGGATCAGCACCA	0.612000											OREG0005683	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LHFPL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	22	25					0	0	0.003954	0	0
KLHL13	90293	broad.mit.edu	37	X	117079498	117079498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:117079498G>A	ENST00000262820.3	-	2	1048	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	KLHL13_ENST00000469946.1_5'UTR|KLHL13_ENST00000541812.1_Missense_Mutation_p.L31F|KLHL13_ENST00000540167.1_Missense_Mutation_p.L31F|KLHL13_ENST00000371878.1_5'UTR|KLHL13_ENST00000539496.1_Missense_Mutation_p.L50F|KLHL13_ENST00000371882.1_5'UTR|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000545703.1_Missense_Mutation_p.L5F	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	47					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGCCTCCAAGGGACAATTTC	0.428000													31	2					0	0	0.009535	0	0
ASTN2	23245	broad.mit.edu	37	9	119625870	119625870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:119625870C>T	ENST00000313400.4	-	11	2132	c.2032G>A	c.(2032-2034)Gga>Aga	p.G678R	ASTN2_ENST00000361209.2_Missense_Mutation_p.G627R|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G674R			O75129	ASTN2_HUMAN	astrotactin 2	678	EGF-like 2.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCACACATCCCGAGGAATCC	0.612000													11	34					0	0	0.003163	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620943	233620943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:233620943C>T	ENST00000373566.3	+	6	475	c.278C>T	c.(277-279)tCc>tTc	p.S93F	GIGYF2_ENST00000409480.1_Missense_Mutation_p.S93F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S93F|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S93F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S93F|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S93F			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	93					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAACTTTTCCATGTCTGTA	0.408000													13	21					0	0	0.013537	0	0
SCIN	85477	broad.mit.edu	37	7	12666342	12666342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:12666342C>T	ENST00000297029.5	+	8	1216	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SCIN_ENST00000519209.1_Missense_Mutation_p.P125L|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_Missense_Mutation_p.P125L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	372	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AAACAAATTCCCTTTGATGCC	0.408000													3	8					0	0	0.004672	0	0
SYNE2	23224	broad.mit.edu	37	14	64608751	64608751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:64608751C>T	ENST00000357395.3	+	83	15550	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SYNE2_ENST00000344113.4_Missense_Mutation_p.S5084F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1718F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1469F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5001F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5084F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5084					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGAAGACTCCGTGCATTCA	0.388000													12	10					0	0	0.013537	0	0
C10orf62	414157	broad.mit.edu	37	10	99349867	99349867	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:99349867C>T	ENST00000370640.3	+	1	418	c.213C>T	c.(211-213)tcC>tcT	p.S71S	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	71							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGTCAGCTCCACGGTTCACA	0.582000													27	30					0	0	0.003954	0	0
IGFN1	91156	broad.mit.edu	37	1	201190759	201190759	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:201190759G>A	ENST00000335211.4	+	19	10216	c.10086G>A	c.(10084-10086)acG>acA	p.T3362T	IGFN1_ENST00000295591.8_Silent_p.T522T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACCTACACGGCCAAGGGGC	0.617000													39	33					0	0	0.006230	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190482	209190482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:209190482C>T	ENST00000264380.4	+	20	3105	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	983					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTTGCCACTCCCTGTGGATGA	0.512000													21	31					0	0	0.003330	0	0
SRRT	51593	broad.mit.edu	37	7	100483874	100483874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:100483874G>A	ENST00000388793.4	+	13	1682	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	SRRT_ENST00000347433.4_Missense_Mutation_p.E489K|SRRT_ENST00000457580.2_Missense_Mutation_p.E489K|SRRT_ENST00000432932.1_Missense_Mutation_p.E488K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	489					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCAGCTCCGGGAGTGTGAGCT	0.582000													17	26					0	0	0.007413	0	0
SCN2A	6326	broad.mit.edu	37	2	166201069	166201069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:166201069G>A	ENST00000375437.2	+	16	2857	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R856Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R856Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R856Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	856					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCCAGCTCCGAGTTTTCAAG	0.318000													18	20					0	0	0.004990	0	0
LYRM1	57149	broad.mit.edu	37	16	20927004	20927004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:20927004G>A	ENST00000396052.2	+	4	527	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000219168.4_Missense_Mutation_p.E43K|LYRM1_ENST00000439021.1_Missense_Mutation_p.E43K|LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000568663.1_Missense_Mutation_p.E43K|LYRM1_ENST00000569023.1_Missense_Mutation_p.E43K|LYRM1_ENST00000567954.1_Missense_Mutation_p.E43K			O43325	LYRM1_HUMAN	LYR motif containing 1	43						nucleus				large_intestine(1)|prostate(1)	2						CATACTAAATGAAGCCAGAAC	0.438000													20	45					0	0	0.008871	0	0
ADAM11	4185	broad.mit.edu	37	17	42849142	42849142	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:42849142G>A	ENST00000200557.6	+	6	655	c.486G>A	c.(484-486)ggG>ggA	p.G162G	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	162					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCTCTGATGGGAACTTGACTT	0.652000													25	33					0	0	0.004656	0	0
TDRKH	11022	broad.mit.edu	37	1	151751311	151751311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:151751311C>T	ENST00000368822.1	-	6	1366	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TDRKH_ENST00000368823.1_Missense_Mutation_p.E241K|TDRKH_ENST00000368824.3_Missense_Mutation_p.E245K|TDRKH_ENST00000458431.2_Missense_Mutation_p.E245K|TDRKH_ENST00000368825.3_Missense_Mutation_p.E200K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E245K|TDRKH_ENST00000440583.2_Missense_Mutation_p.E21K|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	245							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTCGGCTCCATGCTAGAA	0.542000													54	62					0	0	0.014410	0	0
TSSK6	83983	broad.mit.edu	37	19	19625545	19625545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:19625545G>A	ENST00000360913.3	-	1	1293	c.692C>T	c.(691-693)cCc>cTc	p.P231L	TSSK6_ENST00000585580.3_Missense_Mutation_p.P231L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	231	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGCCTTCGGGATAGAGCAC	0.697000													23	44					0	0	0.003330	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090756	238090756	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:238090756G>A	ENST00000450451.1	+	0	2262					NR_027247.2																						CCCAGCGGGAGATCATGCCCC	0.607000													5	5					0	0	0.000602	0	0
MC3R	4159	broad.mit.edu	37	20	54824281	54824281	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:54824281C>T	ENST00000243911.2	+	1	494	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGCATCTCCCTGGTGGCCTC	0.562000													34	47					0	0	0.013726	0	0
PTPN13	5783	broad.mit.edu	37	4	87556443	87556443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:87556443C>T	ENST00000436978.1	+	2	514	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	PTPN13_ENST00000502971.1_Missense_Mutation_p.R12W|PTPN13_ENST00000316707.6_Missense_Mutation_p.R12W|PTPN13_ENST00000427191.2_Missense_Mutation_p.R12W|PTPN13_ENST00000411767.2_Missense_Mutation_p.R12W|PTPN13_ENST00000511467.1_Missense_Mutation_p.R12W	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	12	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTGGAGGTTCGGGGTGGACC	0.443000													4	9					0	0	0.001168	0	0
NLK	51701	broad.mit.edu	37	17	26519196	26519196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:26519196C>T	ENST00000407008.3	+	10	2204	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	496					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGAGTGCCTCTCTGCATCAA	0.373000													8	9					0	0	0.006214	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000													33	54					0	0	0.013726	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960610	33960610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:33960610C>T	ENST00000361328.3	+	8	2819	c.2666C>T	c.(2665-2667)gCc>gTc	p.A889V		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	889					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGAGCTCTGCCCTCATTAGT	0.468000													127	12					0	0	0.014410	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219721	79219721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:79219721C>T	ENST00000374759.3	-	16	3378	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	999					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCGGCTGCTCGTGGGACACA	0.701000													39	45					0	0	0.009718	0	0
MYOM1	8736	broad.mit.edu	37	18	3090697	3090697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:3090697C>T	ENST00000400569.3	-	27	4301	c.3968G>A	c.(3967-3969)gGa>gAa	p.G1323E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G1227E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1323E			P52179	MYOM1_HUMAN	myomesin 1	1323						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTTGCTTTTCCATCTTGAAG	0.418000													45	51					0	0	0.014410	0	0
DAAM1	23002	broad.mit.edu	37	14	59798092	59798092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:59798092C>T	ENST00000395125.1	+	13	1749	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	DAAM1_ENST00000360909.3_Missense_Mutation_p.P576S|DAAM1_ENST00000351081.1_Missense_Mutation_p.P576S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	576	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		tggccctcctcctcccccAGG	0.632000													20	28					0	0	0.007413	0	0
CELA3A	10136	broad.mit.edu	37	1	22333991	22333991	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:22333991A>G	ENST00000290122.3	+	6	644	c.625A>G	c.(625-627)Atc>Gtc	p.I209V		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAGGGTACATCCGCTCCGG	0.617000													4	74					0	0	0.003080	0	0
SLC2A1	6513	broad.mit.edu	37	1	43392771	43392771	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:43392771G>T	ENST00000426263.3	-	10	1598	c.1420C>A	c.(1420-1422)Caa>Aaa	p.Q474K	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	474					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTGTCACTTTGGCTGGCTCCC	0.597000													34	42					1.62565e-12	1.72518e-12	0.012213	1	0
NEB	4703	broad.mit.edu	37	2	152482132	152482132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:152482132C>T	ENST00000427231.2	-	71	10570	c.10368G>A	c.(10366-10368)tgG>tgA	p.W3456*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W3213*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W3456*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W3213*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W3456*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W3456*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3456					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTGTCCCAGGCTTCTG	0.338000													9	15					0	0	0.004482	0	0
NLRP13	126204	broad.mit.edu	37	19	56407388	56407388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56407388C>T	ENST00000588751.1	-	11	3079	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E1019K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1019							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTATCCAATTCATTGCCTAGA	0.468000													61	83					0	0	0.014410	0	0
GRID2	2895	broad.mit.edu	37	4	94547532	94547532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:94547532G>A	ENST00000282020.4	+	14	2564	c.2306G>A	c.(2305-2307)gGa>gAa	p.G769E	GRID2_ENST00000510992.1_Missense_Mutation_p.G674E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	769					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCTGATCGGGGATATGGAATT	0.388000													20	44					0	0	0.008871	0	0
OR13D1	286365	broad.mit.edu	37	9	107457324	107457324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:107457324C>T	ENST00000318763.5	+	1	665	c.622C>T	c.(622-624)Cat>Tat	p.H208Y		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGTCATTGATCATATTACCTG	0.398000													31	47					0	0	0.003271	0	0
SLIT1	6585	broad.mit.edu	37	10	98923177	98923177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:98923177C>T	ENST00000266058.4	-	3	546	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E101K|SLIT1_ENST00000371041.3_Missense_Mutation_p.E101K|SLIT1_ENST00000456008.2_5'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	101					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCACGTTCCACTGCTCCA	0.597000													158	182					0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21185889	21185889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:21185889C>T	ENST00000377122.4	-	2	547	c.151G>A	c.(151-153)Gat>Aat	p.D51N	NEBL_ENST00000377119.1_Missense_Mutation_p.D51N|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	51					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						CCACTTACATCGCTAATGAGT	0.373000													27	67					0	0	0.009535	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038833	55038833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:55038833G>A	ENST00000474759.1	+	32	2782	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E818K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E912K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E912K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	912						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCCAACAAGGAAAGCAGCGA	0.458000													29	44					0	0	0.003271	0	0
ARGFX	503582	broad.mit.edu	37	3	121303784	121303784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:121303784G>A	ENST00000334384.3	+	3	251	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	81						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AAGGCATAAAGAACGTACTTC	0.423000													68	92					0	0	0.014410	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361039	70361039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:70361039C>T	ENST00000305107.6	-	1	587	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E181K|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E45K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	181					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTATGCTTTTCAATTGCGTAG	0.443000													28	20					0	0	0.005443	0	0
HLA-F	3134	broad.mit.edu	37	6	29691462	29691462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:29691462C>T	ENST00000376861.1	+	3	476	c.92C>T	c.(91-93)aCc>aTc	p.T31I	HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.T31I|HLA-F_ENST00000434407.2_Missense_Mutation_p.T31I|HLA-F_ENST00000334668.4_Missense_Mutation_p.T31I			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	31	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TATTTCAGCACCGCTGTGTCG	0.701000													22	3					0	0	0.007291	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447138	17447138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:17447138G>A	ENST00000541323.1	+	3	662	c.217G>A	c.(217-219)Gat>Aat	p.D73N	PDGFRL_ENST00000251630.6_Missense_Mutation_p.D73N|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D73N	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	73	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GCAAGTGCTGGATAAAGGTCG	0.507000													29	40					0	0	0.008361	0	0
RREB1	6239	broad.mit.edu	37	6	7231902	7231902	+	Silent	SNP	C	C	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:7231902C>G	ENST00000379938.2	+	10	4107	c.3570C>G	c.(3568-3570)acC>acG	p.T1190T	RREB1_ENST00000334984.6_Silent_p.T1190T|RREB1_ENST00000349384.6_Silent_p.T1190T|RREB1_ENST00000379933.3_Silent_p.T1190T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1190					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACAGACACCAACAAGTTCA	0.642000													10	23					0	0	0.008291	0	0
ANO9	338440	broad.mit.edu	37	11	430322	430322	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:430322C>T	ENST00000332826.6	-	8	705	c.621G>A	c.(619-621)acG>acA	p.T207T		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	207						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTAAGAGGCCCGTCAGGGCGG	0.657000													14	5					0	0	0.001855	0	0
CNGA4	1262	broad.mit.edu	37	11	6261336	6261336	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6261336G>C	ENST00000379936.2	+	4	427	c.312G>C	c.(310-312)agG>agC	p.R104S	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	104					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAGGGTAGGATCTCGAGTC	0.597000													45	62					0	0	0.009718	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221154	47221154	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:47221154G>A	ENST00000296861.2	-	4	1740	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	449	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTACCCATTGGAGAAAGCAG	0.582000													16	21					0	0	0.003163	0	0
OR5H15	403274	broad.mit.edu	37	3	97888259	97888259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:97888259C>T	ENST00000356526.2	+	1	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAAGCCTTTTCCACCTGTGGA	0.413000													24	36					0	0	0.003330	0	0
FOXC2	2303	broad.mit.edu	37	16	86601503	86601503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:86601503C>T	ENST00000320354.4	+	1	647	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	188					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGAGCCGCCCCCGGCGGCGTC	0.701000									Late-onset Hereditary Lymphedema				14	21					0	0	0.001855	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912524	77912524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:77912524G>A	ENST00000321110.1	-	2	1689	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	465							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CGCCTGCAGGGCCTGATGAGG	0.542000													14	1					0	0	0.004007	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518493	113518493	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:113518493A>G	ENST00000284601.3	-	4	2722	c.2654T>C	c.(2653-2655)gTt>gCt	p.V885A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	885					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATTCTTGAACCTGCCTAAG	0.358000													22	28					0	0	0.012319	0	0
CTNNA1	1495	broad.mit.edu	37	5	138260979	138260979	+	Silent	SNP	C	C	T	rs142503438	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:138260979C>T	ENST00000302763.7	+	13	1872	c.1782C>T	c.(1780-1782)gcC>gcT	p.A594A	CTNNA1_ENST00000540387.1_Silent_p.A224A|CTNNA1_ENST00000355078.5_Silent_p.A491A|CTNNA1_ENST00000518825.1_Silent_p.A594A	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	594					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGAAGCAGCCGTGGAAGCCC	0.557000													28	4					0	0	0.007291	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:70071218G>A	ENST00000370598.1	+	29	4874	c.4053G>A	c.(4051-4053)atG>atA	p.M1351I	BAI3_ENST00000238918.8_Missense_Mutation_p.M557I|BAI3_ENST00000546190.1_Missense_Mutation_p.M315I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000													45	54					0	0	0.014410	0	0
GPC6	10082	broad.mit.edu	37	13	95055279	95055279	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:95055279C>T	ENST00000377047.4	+	9	2091	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	492						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTGATGAATCCAGTGGCTCAG	0.512000													74	98					0	0	0.014410	0	0
CFHR4	10877	broad.mit.edu	37	1	196881899	196881899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:196881899G>A	ENST00000367416.2	+	7	1161	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	CFHR4_ENST00000367418.1_Missense_Mutation_p.E96K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.E96K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TATAGAAATTGAAAATGGATT	0.259000													4	11					0	0	0.001168	0	0
SOS1	6654	broad.mit.edu	37	2	39285889	39285889	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:39285889G>A	ENST00000426016.1	-	4	356	c.270C>T	c.(268-270)gcC>gcT	p.A90A	SOS1_ENST00000395038.2_Silent_p.A90A|SOS1_ENST00000402219.2_Silent_p.A90A|SOS1_ENST00000428721.2_Silent_p.A33A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	90					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A90A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAGCTGATTGGGCATCAGCTA	0.343000									Noonan syndrome				31	22					0	0	0.009535	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:40137212C>T	ENST00000278198.2	-	2	2594	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E211K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453000													31	42					0	0	0.010818	0	0
CPXM2	119587	broad.mit.edu	37	10	125514272	125514272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:125514272G>A	ENST00000241305.3	-	13	2078	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	642					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTAATGCCACGATGAACCTGC	0.517000													47	58					0	0	0.013114	0	0
NUP210L	91181	broad.mit.edu	37	1	153998119	153998119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:153998119C>T	ENST00000368559.3	-	30	4092	c.4021G>A	c.(4021-4023)Gaa>Aaa	p.E1341K	NUP210L_ENST00000368553.1_Missense_Mutation_p.E274K|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1341K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1341						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGGAGCCCTTCACCATCCTCC	0.478000													94	159					0	0	0.014410	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139046	64139046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:64139046G>A	ENST00000545618.1	-	5	985	c.422C>T	c.(421-423)cCt>cTt	p.P141L	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.P123L|ZC4H2_ENST00000374839.3_Missense_Mutation_p.P146L|ZC4H2_ENST00000447788.2_Intron			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	146							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGCTCCTGAGGTTCTGTCTG	0.552000													24	3					0	0	0.007291	0	0
EEPD1	80820	broad.mit.edu	37	7	36194146	36194146	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:36194146C>T	ENST00000242108.4	+	2	931	c.213C>T	c.(211-213)atC>atT	p.I71I	EEPD1_ENST00000534978.1_Silent_p.I71I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	71					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAGAGTATATCGGTGGCTTCA	0.592000													36	54					0	0	0.003755	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989695	15989695	+	Silent	SNP	C	C	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:15989695C>G	ENST00000221700.5	-	13	1544	c.1449G>C	c.(1447-1449)gcG>gcC	p.A483A	CYP4F2_ENST00000592328.1_Silent_p.A483A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	483					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A483A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAGCGTGAGCGCCAGGACCA	0.682000													16	41					0	0	0.004990	0	0
CHN2	1124	broad.mit.edu	37	7	29546880	29546880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:29546880C>T	ENST00000222792.6	+	11	1558	c.1028C>T	c.(1027-1029)cCa>cTa	p.P343L	CHN2_ENST00000546235.1_Missense_Mutation_p.P328L|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000409041.4_Missense_Mutation_p.P207L|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.P418L|CHN2_ENST00000424025.2_Missense_Mutation_p.P162L|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.P199L|CHN2_ENST00000421775.2_Missense_Mutation_p.P149L|CHN2_ENST00000495789.2_Missense_Mutation_p.P356L	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	343	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AATGTCTATCCAGACATAAAC	0.388000													18	18					0	0	0.006122	0	0
NDRG1	10397	broad.mit.edu	37	8	134256628	134256628	+	Silent	SNP	C	C	T	rs150101908	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:134256628C>T	ENST00000414097.2	-	14	1728	c.861G>A	c.(859-861)gcG>gcA	p.A287A	NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000522476.1_Silent_p.A221A|NDRG1_ENST00000354944.5_Silent_p.A217A|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Silent_p.A206A|NDRG1_ENST00000323851.7_Silent_p.A287A|NDRG1_ENST00000518176.1_Silent_p.A34A	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	287					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|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)			CGCCACAGTCCGCCATCTAGG	0.577000			T	ERG	prostate								16	20					0	0	0.004990	0	0
STAB1	23166	broad.mit.edu	37	3	52556346	52556346	+	Splice_Site	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:52556346A>G	ENST00000321725.6	+	60	6542	c.6465_splice	c.e60-1	p.N2156_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2156	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAACCCCAGAACACACGGCG	0.652000													23	34					0	0	0.014323	0	0
ZNF782	158431	broad.mit.edu	37	9	99581721	99581721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:99581721G>A	ENST00000481138.1	-	6	1245	c.584C>T	c.(583-585)aCc>aTc	p.T195I	ZNF782_ENST00000535338.1_Missense_Mutation_p.T63I|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGATGGAGGGTTTTCACAAT	0.363000													22	20					0	0	0.014323	0	0
LRBA	987	broad.mit.edu	37	4	151792567	151792567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:151792567G>A	ENST00000535741.1	-	19	2770	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	LRBA_ENST00000357115.3_Missense_Mutation_p.S766L|LRBA_ENST00000510413.1_Missense_Mutation_p.S766L|LRBA_ENST00000507224.1_Missense_Mutation_p.S766L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	766						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCTAGCAATGAAAACAATCC	0.368000													26	38					0	0	0.008361	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719416	45719416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:45719416G>A	ENST00000413988.1	-	9	896	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.H286Y	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	286										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TCAGCCAAATGGGGCACCACG	0.642000													19	27					0	0	0.012319	0	0
DTNA	1837	broad.mit.edu	37	18	32459604	32459604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:32459604G>A	ENST00000283365.9	+	19	2182	c.1831G>A	c.(1831-1833)Gct>Act	p.A611T	DTNA_ENST00000399097.3_Missense_Mutation_p.A316T|DTNA_ENST00000399113.3_Missense_Mutation_p.A668T|DTNA_ENST00000601125.1_Missense_Mutation_p.A290T|DTNA_ENST00000595022.1_Missense_Mutation_p.A608T|DTNA_ENST00000444659.1_Missense_Mutation_p.A668T|DTNA_ENST00000269192.7_Missense_Mutation_p.A377T|DTNA_ENST00000591182.1_Missense_Mutation_p.A316T|DTNA_ENST00000598142.1_Missense_Mutation_p.A611T|DTNA_ENST00000399121.5_Missense_Mutation_p.A615T|DTNA_ENST00000590831.2_Missense_Mutation_p.A94T|DTNA_ENST00000556414.3_Missense_Mutation_p.A320T|DTNA_ENST00000598334.1_Missense_Mutation_p.A608T|DTNA_ENST00000269190.7_Missense_Mutation_p.A669T	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	668					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCTGAAAAGGCTTTTCTAGC	0.478000													22	24					0	0	0.002780	0	0
ASPA	443	broad.mit.edu	37	17	3397703	3397703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:3397703C>T	ENST00000263080.2	+	5	852	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P232S	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	232					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTTGATTACCCCCGGGATGA	0.338000													85	114					0	0	0.014410	0	0
C4orf17	84103	broad.mit.edu	37	4	100434341	100434341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:100434341C>T	ENST00000514652.1	+	2	457	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	C4orf17_ENST00000326581.4_Missense_Mutation_p.P35S			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	35										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACCCCTCATCCCAGAAGAGT	0.468000													30	52					0	0	0.008361	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726803	8726803	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:8726803C>T	ENST00000311434.9	-	14	1766	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	509					platelet activation	cytosol											GGGATGTGTCCAGGGAAGGAG	0.532000													6	9					0	0	0.001168	0	0
FAM46C	54855	broad.mit.edu	37	1	118165614	118165614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:118165614C>T	ENST00000369448.3	+	2	371	c.124C>T	c.(124-126)Cca>Tca	p.P42S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	42										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAACTTTCCAACCTTGGA	0.572000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			55	9					0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117685243	117685243	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:117685243C>T	ENST00000317775.6	-	18	3418	c.2733G>A	c.(2731-2733)ctG>ctA	p.L911L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L945L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	911	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCCCCTCCCAGTTCTTCCA	0.557000													40	55					0	0	0.008740	0	0
MGA	23269	broad.mit.edu	37	15	42019410	42019410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:42019410C>T	ENST00000219905.7	+	10	3644	c.3463C>T	c.(3463-3465)Cga>Tga	p.R1155*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R1155*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1155*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1155*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1155*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1155						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGCCTGTTCGACATTACCC	0.408000													18	16					0	0	0.007413	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367210	105367210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:105367210C>T	ENST00000297581.2	+	3	1184	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	379					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GACCTGGGTTCCTCTCAGTGT	0.393000													38	21					0	0	0.004289	0	0
TRPM5	29850	broad.mit.edu	37	11	2439583	2439583	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:2439583G>A	ENST00000452833.1	-	6	734	c.726C>T	c.(724-726)atC>atT	p.I242I	TRPM5_ENST00000533060.1_Silent_p.I240I|TRPM5_ENST00000528453.1_Silent_p.I240I|TRPM5_ENST00000155858.6_Silent_p.I240I			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	240						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGCCCTGGAGATCCTCTGAG	0.672000													101	121					0	0	0.014410	0	0
F11	2160	broad.mit.edu	37	4	187205274	187205274	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187205274C>T	ENST00000264692.4	+	11	1341	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	F11_ENST00000403665.2_Silent_p.I388I			P03951	FA11_HUMAN	coagulation factor XI	388	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGCCCAGGATCGTTGGAGGAA	0.517000													46	42					0	0	0.014410	0	0
VPS26B	112936	broad.mit.edu	37	11	134113052	134113052	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:134113052C>T	ENST00000281187.5	+	4	1063	c.585C>T	c.(583-585)ttC>ttT	p.F195F	VPS26B_ENST00000525095.2_Silent_p.F195F|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	195					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGATATACTTCCTGCTGGTGA	0.443000													19	31					0	0	0.014323	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386781	22386781	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:22386781C>T	ENST00000390439.2	+	0	260																											TGGAAAAGGTCCTCAATTCAT	0.403000													17	31					0	0	0.007413	0	0
CABP2	51475	broad.mit.edu	37	11	67286622	67286622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:67286622C>T	ENST00000294288.4	-	7	720	c.651G>A	c.(649-651)atG>atA	p.M217I	CABP2_ENST00000353903.5_Missense_Mutation_p.M160I	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	217	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						ACCGAGACATCATTCGCACAA	0.572000													18	27					0	0	0.008871	0	0
COL4A5	1287	broad.mit.edu	37	X	107807133	107807133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:107807133C>T	ENST00000328300.6	+	4	497	c.253C>T	c.(253-255)Cca>Tca	p.P85S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P85S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	85	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P85T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATTCCAGGGCCACCAGGACC	0.328000									Alport syndrome with Diffuse Leiomyomatosis				9	2					0	0	0.008291	0	0
MYL1	4632	broad.mit.edu	37	2	211163172	211163172	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:211163172C>T	ENST00000352451.3	-	3	423	c.276G>A	c.(274-276)agG>agA	p.R92R	MYL1_ENST00000341685.4_Silent_p.R48R|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	92					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAGAACTTTCCTGACCTCTG	0.478000													43	69					0	0	0.014410	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707698	75707698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:75707698G>A	ENST00000370855.5	-	9	633	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	SLC44A5_ENST00000535611.1_Missense_Mutation_p.P44S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P174S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	174						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGTTTGCTGGGAAAAATCGCT	0.363000													24	49					0	0	0.007291	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083659	107083659	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:107083659G>A	ENST00000455737.1	-	0	66																											CTGCCACCAGGAGAAGGAAGA	0.502000													13	33					0	0	0.001855	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842523	128842523	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:128842523C>A	ENST00000310343.9	-	21	3835	c.3836G>T	c.(3835-3837)aGc>aTc	p.S1279I	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S930I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S930I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1279					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CACATCCCAGCTGGCTTCCTT	0.562000													28	84					1.2476e-16	1.33226e-16	0.006320	1	0
ANKS1B	56899	broad.mit.edu	37	12	99145141	99145141	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:99145141T>A	ENST00000547776.2	-	25	3663	c.3664A>T	c.(3664-3666)Aag>Tag	p.K1222*	ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.K388*|ANKS1B_ENST00000547446.1_Nonsense_Mutation_p.K357*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.K738*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.K412*|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.K472*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.K448*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.K388*|ANKS1B_ENST00000341752.7_Nonsense_Mutation_p.K228*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.K412*|ANKS1B_ENST00000333732.7_Nonsense_Mutation_p.K252*|ANKS1B_ENST00000549025.2_Nonsense_Mutation_p.K320*|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.K1222*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1222						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACCACGGACTTGCGAATGCTA	0.498000													20	26					0	0	0.012319	0	0
CHMP7	91782	broad.mit.edu	37	8	23106782	23106782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:23106782C>T	ENST00000397677.1	+	3	1007	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CHMP7_ENST00000313219.7_Missense_Mutation_p.S120F	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	120					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGGATCTCCTGGGGGGTT	0.542000													29	50					0	0	0.008361	0	0
TPSD1	23430	broad.mit.edu	37	16	1306943	1306943	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:1306943C>T	ENST00000211076.3	+	3	548	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	TPSD1_ENST00000397534.2_Silent_p.L127L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	134	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGCTGGAGCTGGAGGAGCC	0.652000													18	15					0	0	0.007413	0	0
TRIM42	287015	broad.mit.edu	37	3	140401461	140401461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:140401461G>A	ENST00000286349.3	+	2	690	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	167						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCCTGTGCGAGAAGTGCCT	0.602000													49	65					0	0	0.014410	0	0
CDH4	1002	broad.mit.edu	37	20	60348150	60348150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:60348150G>A	ENST00000360469.5	+	4	576	c.488G>A	c.(487-489)gGg>gAg	p.G163E	CDH4_ENST00000543233.1_Missense_Mutation_p.G89E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	163					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGCCAACGGGCTGAGGCGG	0.657000													13	17					0	0	0.001855	0	0
ZNF337	26152	broad.mit.edu	37	20	25657189	25657189	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:25657189G>A	ENST00000376436.1	-	4	1274	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF337_ENST00000252979.5_Silent_p.F245F|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F213F|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTTGAGGCTGAAGCCTCGCC	0.527000													33	47					0	0	0.010818	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363668	55363668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:55363668C>T	ENST00000326321.3	+	3	319	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R96W|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	96	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R96W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTACAGATGTCGGGGTTCACG	0.582000													34	57					0	0	0.014410	0	0
ZNF395	55893	broad.mit.edu	37	8	28218600	28218600	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:28218600G>A	ENST00000344423.5	-	2	173	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ZNF395_ENST00000523202.1_Silent_p.L14L|ZNF395_ENST00000523095.1_Silent_p.L14L	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	14					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCTCCCAGGAGGGACCGCT	0.687000													32	39					0	0	0.013726	0	0
ALPK3	57538	broad.mit.edu	37	15	85370756	85370756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:85370756C>T	ENST00000258888.5	+	3	997	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	277					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGAGGAGACCCAGCCGCTA	0.552000													20	31					0	0	0.007413	0	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:48129705C>T	ENST00000244043.4	-	8	1147	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000													36	51					0	0	0.010771	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203161	140203161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:140203161G>A	ENST00000529859.1	+	1	1801	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G601S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G601S	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGATTCGGGCTACAACGC	0.672000													31	13					0	0	0.009535	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687198	123687198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:123687198G>A	ENST00000606320.1	-	10	1960	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S433F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S433F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S555F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	433					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATCTTCCAAGGAAGTCAATGA	0.393000													18	25					0	0	0.007413	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733748	28733748	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:28733748C>T	ENST00000550043.1	+	0	153																											GCCGCAGTTGCCCTCGGGCGC	0.687000													8	5					0	0	0.003080	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74562237	74562237	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:74562237G>A	ENST00000225276.5	-	9	1393	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	358					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCTCCACAGGGCAGCTTCCA	0.507000													47	37					0	0	0.014410	0	0
COBL	23242	broad.mit.edu	37	7	51096202	51096202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:51096202G>A	ENST00000395542.2	-	12	3021	c.2837C>T	c.(2836-2838)tCc>tTc	p.S946F	COBL_ENST00000265136.7_Missense_Mutation_p.S864F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	864										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)					ATACTGGCTGGACGTTCTTCT	0.572000													44	71					0	0	0.010771	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883419	12883419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:12883419G>A	ENST00000379672.5	+	19	2108	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G603E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G597E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	603					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCACAGAAAGGAAGTCCAGGC	0.592000													7	23					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126241707	126241707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:126241707G>A	ENST00000394329.3	+	1	4154	c.4141G>A	c.(4141-4143)Gaa>Aaa	p.E1381K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1381	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGGACTTTGAAACACAGTC	0.368000													34	82					0	0	0.013726	0	0
FAM189B	10712	broad.mit.edu	37	1	155220423	155220423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:155220423G>A	ENST00000361361.2	-	9	1663	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	FAM189B_ENST00000350210.2_Missense_Mutation_p.P289L|FAM189B_ENST00000368368.3_Missense_Mutation_p.P367L	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	385						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TTCCTCGAAGGGGCCCCGCAG	0.701000													13	21					0	0	0.004990	0	0
CALCRL	10203	broad.mit.edu	37	2	188211048	188211048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:188211048G>A	ENST00000409998.1	-	16	2030	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	CALCRL_ENST00000410068.1_Missense_Mutation_p.R417C|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.R417C			Q16602	CALRL_HUMAN	calcitonin receptor-like	417						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GACGCACTACGAAGAGCTTCT	0.378000													12	21					0	0	0.013537	0	0
OR1K1	392392	broad.mit.edu	37	9	125563054	125563054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:125563054C>T	ENST00000277309.2	+	1	685	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATCCTCGCCTCCTATGGGGCC	0.652000													29	25					0	0	0.006320	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415669	210415669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:210415669G>A	ENST00000367012.3	+	4	1288	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	353							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCAGCAAAGGAAGTAAAATA	0.368000													17	30					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168107566	168107566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:168107566C>T	ENST00000409195.1	+	9	9753	c.9664C>T	c.(9664-9666)Cgt>Tgt	p.R3222C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3000C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3222C|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3047					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCAACACTTCGTCGTCAAAT	0.448000													25	45					0	0	0.003330	0	0
IGDCC3	9543	broad.mit.edu	37	15	65628235	65628235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:65628235G>A	ENST00000327987.4	-	3	720	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	157	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTGGAAGCGGGCCACACCA	0.592000													40	46					0	0	0.007835	0	0
CCDC82	79780	broad.mit.edu	37	11	96117829	96117829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:96117829C>T	ENST00000278520.5	-	3	511	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	CCDC82_ENST00000542662.1_Missense_Mutation_p.R28Q|CCDC82_ENST00000423339.2_Missense_Mutation_p.R28Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	28							protein binding	p.R28Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCTTTTAGTTCGCCTCCAATC	0.353000													30	37					0	0	0.007291	0	0
MYO1A	4640	broad.mit.edu	37	12	57424938	57424938	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:57424938C>T	ENST00000442789.2	-	24	2657	c.2370G>A	c.(2368-2370)ggG>ggA	p.G790G	MYO1A_ENST00000544473.1_Silent_p.G628G|MYO1A_ENST00000300119.3_Silent_p.G790G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	790					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCAGCCCCAGTAGGA	0.527000													35	57					0	0	0.004289	0	0
OR2A7	401427	broad.mit.edu	37	7	143956032	143956032	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143956032C>T	ENST00000493325.1	-	1	783	c.690G>A	c.(688-690)agG>agA	p.R230R	RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TCTGAACTTCCCTTGATTGGA	0.478000													42	77					0	0	0.014410	0	0
GLRA3	8001	broad.mit.edu	37	4	175603979	175603979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:175603979C>T	ENST00000274093.3	-	6	1188	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	GLRA3_ENST00000340217.5_Missense_Mutation_p.R229Q	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R229P(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGTGCAGTATCGTAAATCTTT	0.373000													24	19					0	0	0.004656	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	113	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667000													35	66					0	0	0.004878	0	0
ASAP2	8853	broad.mit.edu	37	2	9528618	9528618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:9528618C>T	ENST00000281419.3	+	22	2666	c.2326C>T	c.(2326-2328)Cct>Tct	p.P776S	ASAP2_ENST00000315273.4_Missense_Mutation_p.P776S|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	776	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCCGCCCAGCCTGCAGCCCC	0.587000													16	20					0	0	0.004990	0	0
SLFN13	146857	broad.mit.edu	37	17	33772081	33772081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:33772081G>A	ENST00000285013.6	-	3	894	c.619C>T	c.(619-621)Cct>Tct	p.P207S	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.P207S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P207S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P207S|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	207						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGAGACTCAGGAAAAGATAGG	0.328000													40	50					0	0	0.006999	0	0
RPTN	126638	broad.mit.edu	37	1	152127305	152127305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:152127305C>T	ENST00000316073.3	-	3	2334	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	757	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGCCTGTCTCGTCTCTGATG	0.512000													173	219					0	0	0.014410	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303095	151303095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:151303095G>A	ENST00000370323.4	-	4	1314	c.998C>T	c.(997-999)gCt>gTt	p.A333V	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.A333V	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	333	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCAAAGCCTCCTCATA	0.488000													61	13					0	0	0.014410	0	0
AOC3	8639	broad.mit.edu	37	17	41004371	41004371	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:41004371C>T	ENST00000308423.2	+	1	1171	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	337					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGTGGACTTTCTCCTTTGGCC	0.577000													28	26					0	0	0.006320	0	0
FAT2	2196	broad.mit.edu	37	5	150922489	150922489	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:150922489C>T	ENST00000261800.5	-	9	8211	c.8199G>A	c.(8197-8199)gaG>gaA	p.E2733E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2733	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTGTTGCTCTCAGGTGTAG	0.507000													42	8					0	0	0.014410	0	0
KLF7	8609	broad.mit.edu	37	2	208030259	208030259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:208030259C>T	ENST00000309446.6	-	1	410	c.34G>A	c.(34-36)Gag>Aag	p.E12K	KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Missense_Mutation_p.E12K|KLF7_ENST00000423015.1_Missense_Mutation_p.E12K	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	12					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGTTGTAGCTCCTGGAATATA	0.507000													49	73					0	0	0.014410	0	0
RANBP10	57610	broad.mit.edu	37	16	67763685	67763685	+	Silent	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:67763685G>T	ENST00000317506.3	-	9	1160	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	RANBP10_ENST00000536251.1_Silent_p.R120R|RANBP10_ENST00000448631.2_Silent_p.R293R|RANBP10_ENST00000411657.2_Silent_p.R232R|RANBP10_ENST00000602677.1_Silent_p.R349R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	349	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTCAAACTTCGGACCTCACTG	0.602000													63	70					2.60599e-31	2.8079e-31	0.014410	1	0
DSCAM	1826	broad.mit.edu	37	21	41648169	41648169	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr21:41648169A>C	ENST00000400454.1	-	11	2688	c.2211T>G	c.(2209-2211)atT>atG	p.I737M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	737	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTTAGGGCAATTGGCTGGA	0.498000													17	23					0	0	0.004990	0	0
RNASE9	390443	broad.mit.edu	37	14	21025022	21025022	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:21025022G>A	ENST00000557068.1	-	4	1932	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RNASE9_ENST00000554964.1_Silent_p.V69V|RNASE9_ENST00000553541.1_Silent_p.V69V|RNASE9_ENST00000556208.1_Silent_p.V74V|RNASE9_ENST00000555230.1_Silent_p.V69V|RNASE9_ENST00000429244.2_Silent_p.V69V|RNASE9_ENST00000553706.1_Silent_p.V74V|RNASE9_ENST00000557209.1_Silent_p.V74V|RNASE9_ENST00000404716.3_Silent_p.V74V|RNASE9_ENST00000338904.3_Silent_p.V69V			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTTCAATAAGGACACGTCTTT	0.373000													43	69					0	0	0.011902	0	0
SRL	6345	broad.mit.edu	37	16	4242246	4242246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4242246C>T	ENST00000399609.3	-	6	1342	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	SRL_ENST00000537996.1_Missense_Mutation_p.G402S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	903	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCGAGGCTACCCAGGAGGCCC	0.542000													34	62					0	0	0.004289	0	0
C6	729	broad.mit.edu	37	5	41176592	41176592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:41176592C>T	ENST00000263413.3	-	8	1417	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	C6_ENST00000337836.5_Missense_Mutation_p.E385K|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	385	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTTTAGTTCCTCACTGCTA	0.393000													12	1					0	0	0.010729	0	0
C10orf54	64115	broad.mit.edu	37	10	73511434	73511434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:73511434G>A	ENST00000394957.3	-	6	947	c.889C>T	c.(889-891)Cca>Tca	p.P297S	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	297						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCAGGGATGGGAAGAAGACG	0.627000													23	30					0	0	0.004656	0	0
ZNF92	168374	broad.mit.edu	37	7	64864771	64864771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:64864771G>A	ENST00000328747.7	+	4	1943	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	ZNF92_ENST00000431504.1_Missense_Mutation_p.E506K|ZNF92_ENST00000357512.2_Missense_Mutation_p.E550K|ZNF92_ENST00000450302.2_Missense_Mutation_p.E513K	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	582						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTATACTAAAGAGAAACTACA	0.348000													22	48					0	0	0.003330	0	0
IL1F10	84639	broad.mit.edu	37	2	113832361	113832361	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:113832361G>A	ENST00000393197.2	+	3	601	c.180G>A	c.(178-180)ggG>ggA	p.G60G	IL1F10_ENST00000341010.2_Silent_p.G60G|IL1F10_ENST00000337569.3_Silent_p.G60G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	60						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TTTTCCTGGGGATCCAGGGAG	0.582000													41	47					0	0	0.007835	0	0
FAT3	120114	broad.mit.edu	37	11	92085899	92085899	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92085899C>T	ENST00000298047.6	+	1	638	c.621C>T	c.(619-621)caC>caT	p.H207H	FAT3_ENST00000409404.2_Silent_p.H207H|FAT3_ENST00000525166.1_Silent_p.H57H|FAT3_ENST00000541502.1_Silent_p.H207H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	207	Cadherin 2.				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)				TTTCAGTTCACCCCACGAGTG	0.408000										TCGA Ovarian(4;0.039)			205	250					0	0	0.014410	0	0
CDH22	64405	broad.mit.edu	37	20	44841652	44841652	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:44841652G>A	ENST00000372262.3	-	5	1414	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.A338A	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTACGATGATGGCCTCCTGAG	0.607000													14	31					0	0	0.004990	0	0
C14orf105	55195	broad.mit.edu	37	14	57960231	57960231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:57960231C>T	ENST00000216445.3	-	1	339	c.203G>A	c.(202-204)tGg>tAg	p.W68*	C14orf105_ENST00000422976.2_Nonsense_Mutation_p.W68*|C14orf105_ENST00000526336.1_Nonsense_Mutation_p.W68*|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.W68*	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	68										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTCCATACCAGTTTTCTTG	0.403000													4	88					0	0	0.009096	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:63990574C>T	ENST00000370657.4	-	4	915	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000													21	21					0	0	0.010504	0	0
KRT76	51350	broad.mit.edu	37	12	53164827	53164827	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:53164827C>T	ENST00000332411.2	-	7	1493	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	480	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCAATCTCCACATCCAGGG	0.552000													22	41					0	0	0.014323	0	0
COL5A1	1289	broad.mit.edu	37	9	137702118	137702118	+	Silent	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:137702118G>T	ENST00000371817.3	+	44	3906	c.3492G>T	c.(3490-3492)ccG>ccT	p.P1164P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1164	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGGGAGCCGGGGCAGAAAG	0.592000													47	55					5.57489e-27	5.99063e-27	0.014410	1	0
KCNB2	9312	broad.mit.edu	37	8	73848639	73848639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:73848639C>T	ENST00000523207.1	+	3	1637	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	350					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATGATATTTTCCAGCCTGGTA	0.473000													58	45					0	0	0.014410	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600158	41600158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:41600158C>T	ENST00000330436.3	+	7	982	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	328					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGCCAAGGTCCATGAGGAGAT	0.537000													29	28					0	0	0.006320	0	0
SLC22A15	55356	broad.mit.edu	37	1	116562312	116562312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:116562312G>A	ENST00000369503.4	+	3	540	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SLC22A15_ENST00000369502.1_Missense_Mutation_p.G137E	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	137					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GATCGCTTCGGAAGGAAAAAA	0.383000													15	17					0	0	0.003163	0	0
IL36B	27177	broad.mit.edu	37	2	113785610	113785610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:113785610G>A	ENST00000327407.2	-	5	451	c.344C>T	c.(343-345)tCt>tTt	p.S115F	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	61					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CTGAAAGACAGAAGTGGAGCC	0.463000													21	21					0	0	0.014323	0	0
NBPF1	55672	broad.mit.edu	37	1	16918441	16918441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:16918441G>A	ENST00000430580.2	-	7	963	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	26						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCAGCTGGGGGCGCAATTTC	0.498000													215	1097					0	0	0.014410	0	0
CPA6	57094	broad.mit.edu	37	8	68658271	68658271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:68658271G>A	ENST00000297770.4	-	1	309	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	CPA6_ENST00000518549.1_Missense_Mutation_p.L32F|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	32					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532000													19	21					0	0	0.012319	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:18195625C>T	ENST00000314254.3	+	1	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTACTTCTTCGTGGGCTCCT	0.488000													44	54					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179614249	179614249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:179614249G>A	ENST00000360870.5	-	46	13100	c.12878C>T	c.(12877-12879)cCc>cTc	p.P4293L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	426	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGTAAAGGGACCAGCTGG	0.393000													18	37					0	0	0.006122	0	0
CFAP54	144535	broad.mit.edu	37	12	97082754	97082754	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:97082754C>T	ENST00000524981.3	+	10	1428	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L				Q6ZTY8	CL063_HUMAN		450										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGCGTTACTCTTTCAGGTAA	0.284000													22	37					0	0	0.002780	0	0
OR51T1	401665	broad.mit.edu	37	11	4903218	4903218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:4903218C>T	ENST00000380378.1	+	1	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S30F	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGGATCTCCATTCCAGTC	0.453000													44	65					0	0	0.014410	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	31					0	0	0.000602	0	0
ZNF823	55552	broad.mit.edu	37	19	11832982	11832982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:11832982G>A	ENST00000341191.6	-	4	1520	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	ZNF823_ENST00000545749.1_Missense_Mutation_p.S274F	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTGAAAGGAAGAGAGATCACT	0.423000										HNSCC(68;0.2)			30	40					0	0	0.007291	0	0
RAN	5901	broad.mit.edu	37	12	131359257	131359257	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:131359257C>T	ENST00000543796.1	+	5	672	c.414C>T	c.(412-414)ttC>ttT	p.F138F	RAN_ENST00000541630.1_Silent_p.F50F|RAN_ENST00000392369.2_Silent_p.F138F|RAN_ENST00000254675.3_Silent_p.F50F|RAN_ENST00000392367.3_Silent_p.F155F			P62826	RAN_HUMAN	RAN, member RAS oncogene family	138					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CCATTGTCTTCCACCGAAAGA	0.383000													21	25					0	0	0.012319	0	0
DHX29	54505	broad.mit.edu	37	5	54566425	54566425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:54566425G>A	ENST00000251636.5	-	19	3122	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	992	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGTACATTCGGAAACAGAAG	0.423000													4	57					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82579028	82579028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:82579028G>A	ENST00000423517.2	-	6	11213	c.10876C>T	c.(10876-10878)Ccc>Tcc	p.P3626S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3626S|PCLO_ENST00000437081.1_Missense_Mutation_p.P346S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3557					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGATGGGTGAGTAAAGG	0.483000													56	62					0	0	0.014410	0	0
OR8S1	341568	broad.mit.edu	37	12	48921757	48921757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:48921757G>A	ENST00000310194.1	+	2	951	c.951G>A	c.(949-951)tgG>tgA	p.W317*	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGCCAGATGGAAGAGACCAG	0.582000													17	28					0	0	0.006122	0	0
PSG3	5671	broad.mit.edu	37	19	43237134	43237134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:43237134G>A	ENST00000327495.5	-	3	695	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG3_ENST00000595140.1_Missense_Mutation_p.P171S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	171	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGAGTCTCAGGATCACAGGTT	0.522000													70	112					0	0	0.014410	0	0
CHP1	11261	broad.mit.edu	37	15	41562787	41562787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:41562787G>A	ENST00000334660.5	+	5	622	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Missense_Mutation_p.E128K	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	128	EF-hand 3.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										GGATAAAGATGAAAAGATCTC	0.413000													31	40					0	0	0.013726	0	0
NID1	4811	broad.mit.edu	37	1	236212001	236212001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:236212001G>A	ENST00000264187.6	-	2	596	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	NID1_ENST00000366595.3_Nonsense_Mutation_p.Q172*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	172	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.Q172*(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGCCTTTCTGGTCTGGGTCC	0.562000													14	22					0	0	0.001855	0	0
TTC40	54777	broad.mit.edu	37	10	134624457	134624457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:134624457C>T	ENST00000368586.5	-	56	7680	c.7580G>A	c.(7579-7581)aGg>aAg	p.R2527K	TTC40_ENST00000263170.5_Missense_Mutation_p.R688K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	688										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGCACCTCCTGTGCTCCAC	0.672000													4	6					0	0	0.009096	0	0
ZFPM2	23414	broad.mit.edu	37	8	106646527	106646527	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:106646527G>A	ENST00000407775.2	+	5	724	c.474G>A	c.(472-474)ctG>ctA	p.L158L	ZFPM2_ENST00000517361.1_Silent_p.L26L|ZFPM2_ENST00000520492.1_Silent_p.L26L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	158					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTGGTTGCTGGATGTGACTT	0.428000													9	13					0	0	0.008291	0	0
TECRL	253017	broad.mit.edu	37	4	65155462	65155462	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:65155462G>A	ENST00000381210.3	-	9	908	c.798C>T	c.(796-798)ttC>ttT	p.F266F	TECRL_ENST00000507440.1_Silent_p.F266F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	266					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTACATTGATGAAATGATTCC	0.274000													7	3					0	0	0.008291	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:104125007G>A	ENST00000259407.2	-	4	1068	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_ENST00000395051.3_Silent_p.F320F	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	320					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAATGAAGAGGAATTGCCCCT	0.473000													41	47					0	0	0.010771	0	0
MGAM	8972	broad.mit.edu	37	7	141755449	141755449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:141755449G>A	ENST00000475668.2	+	28	3460	c.3406G>A	c.(3406-3408)Gaa>Aaa	p.E1136K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1136K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1136	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGCTTTGGGGAAACTGAGCA	0.542000													46	60					0	0	0.014410	0	0
DBX2	440097	broad.mit.edu	37	12	45410265	45410265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:45410265G>A	ENST00000332700.6	-	4	995	c.824C>T	c.(823-825)cCa>cTa	p.P275L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGAAGGACATGGAGAAGGGAA	0.493000													41	56					0	0	0.009718	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548138	99548138	+	Silent	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:99548138A>G	ENST00000547776.2	-	15	2454	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	ANKS1B_ENST00000549558.2_Silent_p.L45L|ANKS1B_ENST00000547446.1_Silent_p.L14L|ANKS1B_ENST00000547010.1_Silent_p.L395L|ANKS1B_ENST00000332712.7_Silent_p.L45L|ANKS1B_ENST00000549493.2_Silent_p.L45L|ANKS1B_ENST00000546960.1_Silent_p.L45L|ANKS1B_ENST00000546568.1_Silent_p.L45L|ANKS1B_ENST00000550693.2_Silent_p.L45L|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.L819L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	819	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATGCTTTCCAACCATTGTCCC	0.512000													25	34					0	0	0.003330	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454892	187454892	+	Missense_Mutation	SNP	G	G	A	rs150190540		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:187454892G>A	ENST00000307161.5	-	2	1205	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	335					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAGTGGAGACGGTTTCCATTT	0.493000													42	56					0	0	0.009718	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058398	67058398	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:67058398C>T	ENST00000295568.4	+	4	1448	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	KBTBD8_ENST00000460576.1_Silent_p.T23T|KBTBD8_ENST00000417314.2_Silent_p.T465T	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	465										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTTTCTTAACCCCCATGACTG	0.363000													33	46					0	0	0.006230	0	0
OR5L2	26338	broad.mit.edu	37	11	55595333	55595333	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:55595333C>T	ENST00000378397.1	+	1	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.498000										HNSCC(27;0.073)			50	47					0	0	0.014410	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877903	26877903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:26877903G>A	ENST00000374168.2	+	5	477	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R117Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R16Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R16Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R108Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R92Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	108	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GACCGCGTCCGGACCAAGATG	0.552000													35	7					0	0	0.004289	0	0
NPAS2	4862	broad.mit.edu	37	2	101604668	101604668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:101604668C>T	ENST00000335681.5	+	17	2042	c.1757C>T	c.(1756-1758)cCa>cTa	p.P586L	NPAS2_ENST00000542504.1_Missense_Mutation_p.P651L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	586					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCAACTTCCAGGGCAGATC	0.592000													37	42					0	0	0.003271	0	0
SNHG14	104472715	broad.mit.edu	37	15	25335008	25335008	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:25335008C>T	ENST00000546682.1	+	0	834				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGGATCCCTCCTGAATGTAAG	0.493000													12	10					0	0	0.001855	0	0
DNAH17	8632	broad.mit.edu	37	17	76528651	76528651	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:76528651C>T	ENST00000389840.5	-	20	3151	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G	DNAH17_ENST00000585328.1_Silent_p.G1006G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACTGCACACCCATATATCA	0.557000													12	4					0	0	0.010729	0	0
ANO4	121601	broad.mit.edu	37	12	101477456	101477456	+	Splice_Site	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:101477456G>A	ENST00000392979.3	+	15	1652	c.1290_splice	c.e15-1	p.E431_splice	ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Splice_Site_p.E466_splice	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	466						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTTTAGGAAGAAATACG	0.378000										HNSCC(74;0.22)			26	43					0	0	0.005443	0	0
DNAH7	56171	broad.mit.edu	37	2	196738410	196738410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:196738410G>A	ENST00000312428.6	-	39	6395	c.6295C>T	c.(6295-6297)Cga>Tga	p.R2099*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTGGATTTCGACCACCACCT	0.274000													16	11					0	0	0.004990	0	0
CRTAC1	55118	broad.mit.edu	37	10	99661391	99661391	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:99661391G>A	ENST00000370597.3	-	8	1357	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CRTAC1_ENST00000370591.2_Silent_p.I334I|CRTAC1_ENST00000298819.4_Silent_p.I334I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	334						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGGGTGAGGCGATGTCCTGGA	0.572000													21	16					0	0	0.014323	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311018	43311018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:43311018C>T	ENST00000321925.4	+	4	422	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R64W|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R120W|SLC14A1_ENST00000502059.2_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R120W|SLC14A1_ENST00000586142.1_Missense_Mutation_p.R64W	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	64				R -> Q (in Ref. 8; ACV91713).		integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGGATTCTCCGGGGCATATC	0.527000													41	57					0	0	0.013114	0	0
MGA	23269	broad.mit.edu	37	15	42041983	42041983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:42041983C>T	ENST00000219905.7	+	17	6359	c.6178C>T	c.(6178-6180)Caa>Taa	p.Q2060*	MGA_ENST00000570161.1_Nonsense_Mutation_p.Q2060*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q2021*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1851*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1851*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2021						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACATACAGATCAAGATTATAA	0.403000													41	60					0	0	0.009718	0	0
MTUS2	23281	broad.mit.edu	37	13	29600557	29600557	+	Silent	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:29600557T>A	ENST00000431530.3	+	1	1810	c.1752T>A	c.(1750-1752)ccT>ccA	p.P584P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	574						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACCCCCTACTGATAGTG	0.537000													33	54					0	0	0.012213	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127855	117127855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:117127855G>A	ENST00000310357.3	-	3	1034	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.S338F|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	338					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGAAGAAAGGAATGGAAAGA	0.408000													26	36					0	0	0.003954	0	0
SAMD7	344658	broad.mit.edu	37	3	169644351	169644351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:169644351G>A	ENST00000428432.2	+	6	690	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SAMD7_ENST00000335556.3_Missense_Mutation_p.E101K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	101								p.E101K(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACAGAAATGGAAATGTATGC	0.388000													9	17					0	0	0.010729	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:21457408G>A	ENST00000307378.6	-	7	1262	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	181					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S181F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000													23	22					0	0	0.012319	0	0
TPTE2	93492	broad.mit.edu	37	13	19997285	19997285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:19997285C>T	ENST00000400230.2	-	20	1530	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	TPTE2_ENST00000255310.6_Missense_Mutation_p.E419K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E496K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E385K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E456K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E419K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E456K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E385K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	496	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E419*(1)|p.E496*(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTATCCAATTCATTTCTTGGT	0.368000													13	27					0	0	0.013537	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055895	92055895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:92055895C>T	ENST00000256343.3	-	24	3095	c.2939G>A	c.(2938-2940)aGg>aAg	p.R980K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	980					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAGTTGTGCCTCATGTTCAC	0.368000													18	30					0	0	0.012319	0	0
OR10A2	341276	broad.mit.edu	37	11	6891351	6891351	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:6891351C>T	ENST00000307322.4	+	1	428	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCAGTCATCATGAACCAAA	0.512000													81	79					0	0	0.014410	0	0
FKBP5	2289	broad.mit.edu	37	6	35558992	35558992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35558992C>T	ENST00000536438.1	-	8	986	c.671G>A	c.(670-672)gGt>gAt	p.G224D	FKBP5_ENST00000357266.4_Missense_Mutation_p.G224D|FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.G224D|FKBP5_ENST00000540787.1_Missense_Mutation_p.G45D	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	224	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTCTCCAAAACCATATCTGAA	0.363000													67	4					0	0	0.014410	0	0
NAALAD2	10003	broad.mit.edu	37	11	89892443	89892443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:89892443G>A	ENST00000534061.1	+	8	1157	c.927G>A	c.(925-927)tgG>tgA	p.W309*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	309	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATAAGAGTTGGAAGGGAGCCC	0.363000													19	28					0	0	0.014323	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499418	37499418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr22:37499418C>T	ENST00000381792.2	-	2	180	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G14R|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G14R|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G23R|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G23R			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	23					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCTCCGTCCCCCTGCCCGCCA	0.657000													68	82					0	0	0.014410	0	0
PRF1	5551	broad.mit.edu	37	10	72358251	72358251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:72358251G>A	ENST00000441259.1	-	3	1386	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	PRF1_ENST00000373209.2_Missense_Mutation_p.P409L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	409					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCTGCCGAGGGCAGCAGTC	0.667000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				14	19					0	0	0.001855	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591339	81591339	+	Splice_Site	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:81591339A>G	ENST00000356860.3	-	36	3175	c.2836_splice	c.e36-1	p.V946_splice	CACNA2D1_ENST00000356253.5_Splice_Site_p.V958_splice|CACNA2D1_ENST00000535308.1_Splice_Site_p.V158_splice	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	958						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCATCTCAACTTGGGTGGC	0.473000													28	40					0	0	0.008361	0	0
CAND1	55832	broad.mit.edu	37	12	67691613	67691613	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:67691613C>T	ENST00000545606.1	+	6	1271	c.834C>T	c.(832-834)gcC>gcT	p.A278A		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	278					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTATTCAAGCCTTTGAATCAT	0.303000													14	23					0	0	0.003163	0	0
SRL	6345	broad.mit.edu	37	16	4242768	4242768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:4242768C>T	ENST00000399609.3	-	6	820	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SRL_ENST00000537996.1_Missense_Mutation_p.G228R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	729	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.G270R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AAGAGGGCCCCGTAAACCCGC	0.557000													42	49					0	0	0.007835	0	0
ERO1L	30001	broad.mit.edu	37	14	53138399	53138399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:53138399G>A	ENST00000395686.3	-	6	680	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	153					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GTCCACTGAAGAACAGCCTTC	0.284000													10	14					0	0	0.010729	0	0
FUT9	10690	broad.mit.edu	37	6	96651295	96651295	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:96651295C>T	ENST00000302103.5	+	3	590	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGTTCAACATCCAAGGATGCC	0.448000													36	47					0	0	0.005524	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965396	1965396	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:1965396C>T	ENST00000382722.5	-	21	2371		c.e21-1		CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000539048.2_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATGCAGGCCTGAAACCAGA	0.507000													86	103					0	0	0.014410	0	0
POP4	10775	broad.mit.edu	37	19	30104870	30104870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:30104870C>T	ENST00000585603.1	+	6	2819	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	POP4_ENST00000221770.3_Missense_Mutation_p.R49C|POP4_ENST00000392279.3_Missense_Mutation_p.R92C|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	173					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CAAAGAAGACCGCCTGAAAGG	0.453000													16	13					0	0	0.004990	0	0
SVEP1	79987	broad.mit.edu	37	9	113192700	113192700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:113192700G>A	ENST00000401783.2	-	33	5720	c.5384C>T	c.(5383-5385)cCg>cTg	p.P1795L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1772L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1795	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCATTTTCCGGATTTCCTGG	0.423000													7	17					0	0	0.001984	0	0
ZHX1	11244	broad.mit.edu	37	8	124266466	124266466	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr8:124266466T>C	ENST00000395571.3	-	3	2338	c.1721A>G	c.(1720-1722)gAg>gGg	p.E574G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E574G|ZHX1_ENST00000297857.2_Missense_Mutation_p.E574G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	574					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCAGTTTTCTCTTTAAACTT	0.433000													32	39					0	0	0.012213	0	0
SIK3	23387	broad.mit.edu	37	11	116744293	116744293	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:116744293G>A	ENST00000375300.1	-	13	1646	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SIK3_ENST00000446921.2_Silent_p.G499G|SIK3_ENST00000434315.2_Silent_p.G388G|SIK3_ENST00000292055.4_Silent_p.G489G|SIK3_ENST00000542607.1_Silent_p.G441G|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	489						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATGCCCTCCGGCCAAGGGGGC	0.617000													222	321					0	0	0.014410	0	0
ITM2A	9452	broad.mit.edu	37	X	78616621	78616621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:78616621C>T	ENST00000434584.2	-	5	961	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	ITM2A_ENST00000373298.2_Missense_Mutation_p.E253K|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	253	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAATAAATTCGTTGGGGAAG	0.353000													19	1					0	0	0.003330	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:118424453G>A	ENST00000369443.4	-	12	1543	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_ENST00000369442.3_Missense_Mutation_p.R432C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000													41	6					0	0	0.014410	0	0
PIF1	80119	broad.mit.edu	37	15	65116064	65116064	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:65116064C>T	ENST00000268043.4	-	2	565	c.471G>A	c.(469-471)gaG>gaA	p.E157E	PIF1_ENST00000333425.6_Silent_p.E157E|PIF1_ENST00000559239.1_Silent_p.E157E			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	157					negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGAGCCGCCGCTCCTCGGGCT	0.756000													11	20					0	0	0.010729	0	0
PARP14	54625	broad.mit.edu	37	3	122414336	122414336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:122414336C>T	ENST00000474629.2	+	5	928	c.662C>T	c.(661-663)cCa>cTa	p.P221L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTTTCTCCAAGACTTCTG	0.338000													9	9					0	0	0.001855	0	0
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:49974618C>T	ENST00000555099.1	+	1	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTGGTCTCCTGCGTGGTC	0.488000													42	52					0	0	0.010771	0	0
MMP1	4312	broad.mit.edu	37	11	102661530	102661530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:102661530C>T	ENST00000315274.6	-	9	1271	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	402	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CGTTTATATTCATCATACCTG	0.363000													38	32					0	0	0.005524	0	0
KLF7	8609	broad.mit.edu	37	2	208030260	208030260	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:208030260C>T	ENST00000309446.6	-	1	409	c.33G>A	c.(31-33)caG>caA	p.Q11Q	KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Silent_p.Q11Q|KLF7_ENST00000423015.1_Silent_p.Q11Q	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	11					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GTTGTAGCTCCTGGAATATAC	0.507000													49	72					0	0	0.014410	0	0
BCL11B	64919	broad.mit.edu	37	14	99641844	99641844	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:99641844G>A	ENST00000345514.2	-	3	1382	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	BCL11B_ENST00000443726.2_Silent_p.I249I|BCL11B_ENST00000357195.3_Silent_p.I443I	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	443						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGGTGCACGATGAGATTGC	0.662000			T	TLX3	T-ALL								20	29					0	0	0.007413	0	0
SIN3B	23309	broad.mit.edu	37	19	16952673	16952673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16952673C>T	ENST00000379803.1	+	4	490	c.476C>T	c.(475-477)tCc>tTc	p.S159F	SIN3B_ENST00000596802.1_Missense_Mutation_p.S159F|SIN3B_ENST00000248054.5_Missense_Mutation_p.S159F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	159	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGTCCGATTCCGTGGAATTC	0.522000													27	23					0	0	0.004656	0	0
C11orf63	79864	broad.mit.edu	37	11	122756873	122756873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:122756873C>T	ENST00000227349.2	+	2	613	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	C11orf63_ENST00000531316.1_Missense_Mutation_p.H106Y|C11orf63_ENST00000307257.6_Missense_Mutation_p.H106Y	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	106										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAAACCACCATACCTGGGA	0.483000													23	44					0	0	0.003330	0	0
DDX53	168400	broad.mit.edu	37	X	23018312	23018312	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:23018312C>T	ENST00000327968.5	+	1	226	c.138C>T	c.(136-138)tcC>tcT	p.S46S	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	46						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGCAGGCTCCCGTGAACCAC	0.507000													21	4					0	0	0.012319	0	0
PHACTR1	221692	broad.mit.edu	37	6	12718995	12718995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:12718995G>A	ENST00000379350.1	+	2	148	c.19G>A	c.(19-21)Gat>Aat	p.D7N	PHACTR1_ENST00000379348.2_Missense_Mutation_p.D7N|PHACTR1_ENST00000332995.7_Missense_Mutation_p.D7N			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	7						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCCAAAATGGATTATTTTCT	0.353000													215	30					0	0	0.014410	0	0
MISP	126353	broad.mit.edu	37	19	757502	757502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:757502G>A	ENST00000215582.6	+	2	659	c.556G>A	c.(556-558)Gtt>Att	p.V186I		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGAGAACGTGGTTGACAGGGA	0.672000													11	15					0	0	0.008291	0	0
C1orf131	128061	broad.mit.edu	37	1	231362503	231362503	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:231362503C>T	ENST00000318906.2	-	5	703	c.675G>A	c.(673-675)aaG>aaA	p.K225K	C1orf131_ENST00000366651.3_Silent_p.K224K|C1orf131_ENST00000366649.2_Silent_p.K225K			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	225	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTCTTCTTCCTTTGCTGCCT	0.403000													30	58					0	0	0.009535	0	0
TLN2	83660	broad.mit.edu	37	15	63127947	63127947	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr15:63127947C>T	ENST00000561311.1	+	55	7370	c.7140C>T	c.(7138-7140)atC>atT	p.I2380I	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.I2380I			Q9Y4G6	TLN2_HUMAN	talin 2	2380	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCTCCATCCCTGCCAATG	0.597000													59	99					0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:9417698G>A	ENST00000378501.2	+	26	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000													16	20					0	0	0.004007	0	0
ELMO2	63916	broad.mit.edu	37	20	45000553	45000553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:45000553G>A	ENST00000372176.1	-	17	1676	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	ELMO2_ENST00000396391.1_Missense_Mutation_p.S491F|ELMO2_ENST00000352077.2_Missense_Mutation_p.S489F|ELMO2_ENST00000445496.2_Missense_Mutation_p.S308F|ELMO2_ENST00000290246.6_Missense_Mutation_p.S491F|ELMO2_ENST00000454865.2_Missense_Mutation_p.S223F|ELMO2_ENST00000439931.2_Missense_Mutation_p.S503F			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	491	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CTGATCCAAAGAGTTGGGTTT	0.502000													28	34					0	0	0.007291	0	0
FAT3	120114	broad.mit.edu	37	11	92523187	92523187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:92523187G>A	ENST00000298047.6	+	7	4431	c.4414G>A	c.(4414-4416)Gat>Aat	p.D1472N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1472N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1322N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1472	Cadherin 14.				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)				AATTTCCGAGGATGTGCTTCC	0.428000										TCGA Ovarian(4;0.039)			155	225					0	0	0.014410	0	0
LRRC56	115399	broad.mit.edu	37	11	551784	551784	+	Silent	SNP	T	T	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:551784T>A	ENST00000270115.7	+	10	1430	c.930T>A	c.(928-930)tcT>tcA	p.S310S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	310										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGCTTTCTGAGGACCTGG	0.672000													14	15					0	0	0.003163	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643824	121643824	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:121643824C>T	ENST00000489711.1	+	13	1456	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	SLC15A2_ENST00000295605.2_Silent_p.I325I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	356					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTATCTTCATCCCGTTGTTTG	0.383000													31	89					0	0	0.013726	0	0
DMRT3	58524	broad.mit.edu	37	9	990863	990863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr9:990863C>T	ENST00000190165.2	+	2	1315	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	426					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCCGTCCTTCCTGCCCGCGCC	0.552000													27	8					0	0	0.003954	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831771	27831771	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:27831771C>T	ENST00000396319.2	+	9	1273	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	TAX1BP1_ENST00000265393.6_Silent_p.R395R|TAX1BP1_ENST00000543117.1_Silent_p.R395R|TAX1BP1_ENST00000409980.1_Silent_p.R395R|TAX1BP1_ENST00000433216.2_Silent_p.R238R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	395	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATACTGCACGCTTGGAAAACG	0.413000													106	154					0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124402799	124402799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:124402799G>A	ENST00000368909.3	+	53	7233	c.7127G>A	c.(7126-7128)cGa>cAa	p.R2376Q	DMBT1_ENST00000368955.3_Missense_Mutation_p.R2366Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1096Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2366Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1748Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2376Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1748Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2376	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCTGCTACCGAGGCTGTGTG	0.607000													42	50					0	0	0.008740	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249145	71249145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:71249145G>A	ENST00000398534.3	+	1	75	c.44G>A	c.(43-45)gGg>gAg	p.G15E		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	15						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TCCGGCTGTGGGGGCTGCGGC	0.652000													73	82					0	0	0.014410	0	0
NR1D2	9975	broad.mit.edu	37	3	23997550	23997550	+	Silent	SNP	G	G	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:23997550G>T	ENST00000312521.4	+	3	625	c.306G>T	c.(304-306)ctG>ctT	p.L102L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	102					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TGGTTCTACTGTGTAAAGTCT	0.398000													47	77					2.73381e-35	2.94827e-35	0.014410	1	0
KALRN	8997	broad.mit.edu	37	3	124175505	124175505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:124175505C>T	ENST00000360013.3	+	23	3905	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	KALRN_ENST00000460856.1_Missense_Mutation_p.R1251W|KALRN_ENST00000240874.3_Missense_Mutation_p.R1260W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1260					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTTTCGGATCGGGAGGTCAA	0.537000													30	44					0	0	0.009535	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359862	77359862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:77359862C>T	ENST00000282849.5	-	13	2351	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	645	Cys-rich.				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						AAGCTATTTTCATTGCAAGGG	0.403000													19	26					0	0	0.007413	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513060	89513060	+	RNA	SNP	T	T	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:89513060T>C	ENST00000498435.1	-	0	229																											ATCAGGAGCTTAGGAACTTTC	0.512000													50	44					0	0	0.014410	0	0
NLRP11	204801	broad.mit.edu	37	19	56321202	56321202	+	Silent	SNP	G	G	A	rs140447447	byFrequency	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:56321202G>A	ENST00000443188.1	-	5	1484	c.774C>T	c.(772-774)ctC>ctT	p.L258L	NLRP11_ENST00000360133.3_Silent_p.L258L|NLRP11_ENST00000592953.1_Silent_p.L159L|NLRP11_ENST00000589824.2_Silent_p.L258L|NLRP11_ENST00000589093.1_Silent_p.L258L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	258	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AACTGACCAGGAGAACTGGAA	0.443000													23	28					0	0	0.003330	0	0
OR8B4	283162	broad.mit.edu	37	11	124293858	124293858	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:124293858G>A	ENST00000356130.3	-	1	931	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304M(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTCTCTTCAGGGTTTTGCCC	0.433000													14	13					0	0	0.002450	0	0
OTOGL	283310	broad.mit.edu	37	12	80761448	80761448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:80761448G>A	ENST00000458043.2	+	53	6418	c.6412G>A	c.(6412-6414)Gaa>Aaa	p.E2138K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E2126K|OTOGL_ENST00000546620.1_Missense_Mutation_p.E157K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTGTCTGGAAGAAAAAGATAA	0.333000													8	5					0	0	0.004482	0	0
HABP2	3026	broad.mit.edu	37	10	115343036	115343036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:115343036C>T	ENST00000351270.3	+	10	1252	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	HABP2_ENST00000541666.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.H360Y	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	386	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGAAGAATTTCATGAGCAGAG	0.438000													34	36					0	0	0.004289	0	0
KSR2	283455	broad.mit.edu	37	12	118199001	118199001	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr12:118199001G>A	ENST00000425217.1	-	4	768	c.714C>T	c.(712-714)atC>atT	p.I238I	KSR2_ENST00000339824.5_Silent_p.I267I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	267	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGTGACGATGTTGGGGG	0.721000													92	139					0	0	0.014410	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453510	143453510	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:143453510C>T	ENST00000470691.2	-	1	1279	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TAGAAAGCTTCTCTTCTTCCT	0.373000													34	124					0	0	0.012213	0	0
LRIG1	26018	broad.mit.edu	37	3	66433778	66433778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:66433778C>T	ENST00000383703.3	-	16	2653	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R	LRIG1_ENST00000273261.3_Missense_Mutation_p.G707R|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	707	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTGTTTCTCCCACAGATACC	0.602000													35	52					0	0	0.006230	0	0
PLXNA2	5362	broad.mit.edu	37	1	208234042	208234042	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:208234042G>A	ENST00000367033.3	-	13	3484	c.2727C>T	c.(2725-2727)atC>atT	p.I909I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	909	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCAGCGATGATGTATTCCC	0.617000													14	30					0	0	0.003163	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431162	37431162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:37431162G>A	ENST00000374660.1	+	7	1268	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R390K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R390K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAAAAGGAAGATCTAAGATG	0.383000													17	20					0	0	0.006122	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211013	107211013	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:107211013G>A	ENST00000390636.2	-	0	355																											AATCATCTCTGGAGATGGTGA	0.517000													27	39					0	0	0.006320	0	0
DCC	1630	broad.mit.edu	37	18	51025821	51025821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr18:51025821C>T	ENST00000442544.2	+	27	4668	c.4052C>T	c.(4051-4053)cCt>cTt	p.P1351L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P984L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1351					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTTGCTACCTCCACCAATG	0.473000													42	55					0	0	0.014410	0	0
COL1A2	1278	broad.mit.edu	37	7	94041417	94041417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:94041417G>A	ENST00000297268.6	+	24	1859	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	463			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCCCCGCTGGAAAAGAAGGT	0.368000										HNSCC(75;0.22)			5	12					0	0	0.001984	0	0
SALL4	57167	broad.mit.edu	37	20	50418824	50418824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:50418824C>T	ENST00000217086.4	-	1	235	c.124G>A	c.(124-126)Gag>Aag	p.E42K	SALL4_ENST00000395997.3_Missense_Mutation_p.E42K|SALL4_ENST00000371539.3_Missense_Mutation_p.E42K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	42					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACCCAGCTcccccgccgcg	0.756000													11	14					0	0	0.010729	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877887	106877887	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:106877887C>T	ENST00000390619.2	-	0	156																											CTTCACCAGTCCTGGGCCCGA	0.607000													25	29					0	0	0.004656	0	0
PAPLN	89932	broad.mit.edu	37	14	73725746	73725746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:73725746C>T	ENST00000427855.1	+	15	1789	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	PAPLN_ENST00000554301.1_Missense_Mutation_p.P563S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P563S|PAPLN_ENST00000381166.3_Missense_Mutation_p.P563S|PAPLN_ENST00000340738.5_Missense_Mutation_p.P536S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	563						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCGTTGGGCCCTCAGGAGTC	0.647000													18	19					0	0	0.006122	0	0
PIGR	5284	broad.mit.edu	37	1	207107923	207107923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:207107923G>A	ENST00000356495.4	-	6	1730	c.1547C>T	c.(1546-1548)gCc>gTc	p.A516V		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	516	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTCACGAAGGCCTTGCTGGG	0.582000													34	66					0	0	0.006999	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197669	142197669	+	RNA	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:142197669C>T	ENST00000471935.1	-	0	308																											TGCAGAAAATCGATCCTTAGG	0.502000													35	49					0	0	0.012213	0	0
ZNF839	55778	broad.mit.edu	37	14	102793131	102793131	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:102793131C>T	ENST00000262236.5	+	2	1105	c.750C>T	c.(748-750)agC>agT	p.S250S	ZNF839_ENST00000442396.2_Silent_p.S366S|ZNF839_ENST00000559185.1_Silent_p.S250S|ZNF839_ENST00000558850.1_Silent_p.S250S	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	250						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACGCTCAGCCTGACCTCCC	0.637000													12	4					0	0	0.013537	0	0
GPR137C	283554	broad.mit.edu	37	14	53100346	53100346	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr14:53100346C>T	ENST00000321662.6	+	5	966	c.966C>T	c.(964-966)ttC>ttT	p.F322F		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	322						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TACTGTTTTTCCGGGCACAGA	0.368000													22	24					0	0	0.010504	0	0
SNPH	9751	broad.mit.edu	37	20	1285634	1285634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:1285634G>A	ENST00000381867.1	+	7	1195	c.553G>A	c.(553-555)Gag>Aag	p.E185K	SNPH_ENST00000381873.3_Missense_Mutation_p.E141K			O15079	SNPH_HUMAN	syntaphilin	141					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCCGAAAGGAGATCAAGCA	0.557000													35	65					0	0	0.006230	0	0
SYPL1	6856	broad.mit.edu	37	7	105732271	105732271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr7:105732271G>A	ENST00000455385.2	-	5	828	c.706C>T	c.(706-708)Cca>Tca	p.P236S	SYPL1_ENST00000011473.2_Missense_Mutation_p.P254S|SYPL1_ENST00000470347.1_3'UTR	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	254	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GTAGGAGGTGGAATACCTCCT	0.403000													19	28					0	0	0.010504	0	0
LINC01518	101929397	broad.mit.edu	37	10	43178809	43178809	+	RNA	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr10:43178809G>A	ENST00000411439.1	-	0	354																											GTCTCACCATGGACTCGAGAG	0.428000													3	1					0	0	0.009096	0	0
PGR	5241	broad.mit.edu	37	11	100962567	100962567	+	Silent	SNP	G	G	A	rs11571179		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:100962567G>A	ENST00000325455.5	-	3	3283	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	PGR_ENST00000534013.1_Silent_p.I16I|PGR_ENST00000263463.5_Silent_p.I610I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	610					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTTTATCAACGATGCAGTCAT	0.378000													9	9					0	0	0.008291	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311020	178311020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:178311020C>T	ENST00000322434.3	+	5	1793	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAACCATATCGATGTTTAGA	0.383000													13	8					0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34049348	34049348	+	Silent	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:34049348G>A	ENST00000373381.4	-	47	7310	c.7134C>T	c.(7132-7134)ttC>ttT	p.F2378F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2380	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCAGGTCTGGAACTGGGGAT	0.502000													48	58					0	0	0.013114	0	0
G6PD	2539	broad.mit.edu	37	X	153762623	153762623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrX:153762623G>A	ENST00000393562.2	-	6	1047	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	G6PD_ENST00000369620.2_Missense_Mutation_p.R192C|G6PD_ENST00000393564.2_Missense_Mutation_p.R192C	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	192					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTCCTCACGGAACAGGGAG	0.637000													31	3					0	0	0.009535	0	0
ZNF814	730051	broad.mit.edu	37	19	58386284	58386284	+	Silent	SNP	T	T	C	rs148592080	by1000genomes	TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:58386284T>C	ENST00000435989.2	-	3	708	c.474A>G	c.(472-474)gcA>gcG	p.A158A	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	158				A -> V (in Ref. 1; BAH13293).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TACACCTCTTTGCAAACAACG	0.493000													3	43					0	0	0.004672	0	0
ZNF648	127665	broad.mit.edu	37	1	182025636	182025636	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr1:182025636A>T	ENST00000339948.3	-	2	1717	c.1510T>A	c.(1510-1512)Ttc>Atc	p.F504I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACAGAGGAATCCCTTCTCC	0.622000													8	13					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141773438	141773438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr2:141773438C>T	ENST00000389484.3	-	13	2988	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V673L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCTTCCCACGCTGTCATCT	0.413000										TSP Lung(27;0.18)			25	32					0	0	0.006320	0	0
ZNF536	9745	broad.mit.edu	37	19	31039364	31039364	+	Silent	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:31039364C>T	ENST00000355537.3	+	4	2985	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCCCTTCCATGAAAGTCC	0.517000													81	86					0	0	0.014410	0	0
DEF6	50619	broad.mit.edu	37	6	35265704	35265704	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr6:35265704G>C	ENST00000316637.5	+	1	76	c.71G>C	c.(70-72)gGc>gCc	p.G24A	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	24						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGAAGAGTGGCAAAGTCTCC	0.687000													13	4					0	0	0.004007	0	0
PRSS48	345062	broad.mit.edu	37	4	152204347	152204347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:152204347C>T	ENST00000455694.2	+	4	562	c.560C>T	c.(559-561)cCc>cTc	p.P187L	PRSS48_ENST00000441586.2_Missense_Mutation_p.P44L|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	187	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCTACAATCCCATCGGTATC	0.468000													64	97					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871597	51871597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr20:51871597G>A	ENST00000371497.5	+	2	2487	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G531R|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G531R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	534					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCCAAAACGGGGCCCCCAG	0.552000													31	38					0	0	0.009535	0	0
SPCS2	9789	broad.mit.edu	37	11	74680701	74680701	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr11:74680701A>G	ENST00000263672.6	+	4	490	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Missense_Mutation_p.M12V|SPCS2_ENST00000530257.1_Missense_Mutation_p.M82V	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	151					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						TCCTACAGGAATGGATCCTGA	0.418000													50	57					0	0	0.014410	0	0
UNC5C	8633	broad.mit.edu	37	4	96199441	96199441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:96199441C>T	ENST00000453304.1	-	4	911	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	UNC5C_ENST00000506749.1_Missense_Mutation_p.C188Y|UNC5C_ENST00000504962.1_Missense_Mutation_p.C188Y	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	188	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTGGTCGACACTGGAGTAA	0.438000													24	36					0	0	0.006320	0	0
MYH3	4621	broad.mit.edu	37	17	10533745	10533745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr17:10533745C>T	ENST00000583535.1	-	37	5404	c.5317G>A	c.(5317-5319)Gag>Aag	p.E1773K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1773K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1773					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGTCCTGCTCCTTCTTCAGC	0.577000													24	65					0	0	0.002780	0	0
MORC1	27136	broad.mit.edu	37	3	108682332	108682333	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:108682332_108682333delTT	ENST00000232603.5	-	27	2809_2810	c.2727_2728delAA	c.(2725-2730)aagafs	p.KR909fs	MORC1_ENST00000483760.1_Frame_Shift_Del_p.KR888fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	909					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAGATTTTTCTTTTATTTTCAC	0.322													36	40	---	---	---	---					
EIF4A2	1974	broad.mit.edu	37	3	186504015	186504015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr3:186504015delA	ENST00000323963.5	+	6	644	c.580delA	c.(580-582)agfs	p.K194fs	EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.K99fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.K195fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	194	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CCGTGGTTTTAAGGATCAAAT	0.353			T	BCL6	NHL								11	25	---	---	---	---					
KIT	3815	broad.mit.edu	37	4	55599319	55599321	+	In_Frame_Del	DEL	AGA	AGA	-	rs121913506		TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr4:55599319_55599321delAGA	ENST00000288135.5	+	17	2542_2544	c.2445_2447delAGA	c.(2443-2448)agc>ag	p.RD815del		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	815	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D816V(758)|p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816N(1)|p.D816A(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTAGCCAGAGACATCAAGAAT	0.394		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				8	129	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35753811	35753811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr5:35753811delG	ENST00000440995.2	+	24	3401	c.3401delG	c.(3400-3402)tgfs	p.W1134fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.W1139fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1139					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGAGAGCTGGTTACAGGAC	0.507													50	32	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													7	85	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													3	5	---	---	---	---					
EPS15L1	58513	broad.mit.edu	37	19	16553011	16553011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chr19:16553011delA	ENST00000597937.1	-	2	57	c.53delT	c.(52-54)tgfs	p.L18fs	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.L18fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.L18fs	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	18	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGATTCATACAACGAATTTCC	0.428													12	22	---	---	---	---					
RPS4Y1	6192	broad.mit.edu	37	Y	2751725	2751741	+	RNA	DEL	AGCCTGCATGGTTTTCA	AGCCTGCATGGTTTTCA	-			TCGA-EE-A17X-06A-11D-A197-08	TCGA-EE-A17X-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18d56f5-d557-41b3-8479-3875471de142	cce9aaa6-afce-45b9-907b-931afe0c75c5	g.chrY:2751725_2751741delAGCCTGCATGGTTTTCA	ENST00000515575.1	+	0	42																											CTACTCTTCCAGCCTGCATGGTTTTCAAGCCTGCAGC	0.419													6	3	---	---	---	---					
