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
SNHG14	104472715	broad.mit.edu	37	15	25327764	25327764	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:25327764G>A	ENST00000546682.1	+	0	100				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GAAGGCCAGTGGAGACAATGG	0.522000													4	3					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310321	56310321	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:56310321C>T	ENST00000528616.2	-	1	436	c.413G>A	c.(412-414)aGa>aAa	p.R138K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATGCAAACTCTCCTGGACGT	0.512000													8	18					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49166769	49166769	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:49166769C>T	ENST00000270235.4	-	6	1151	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	352	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCTGGTGTCCGACATATTGC	0.587000													32	96					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328009	57328009	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57328009C>T	ENST00000326441.9	-	10	2164	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E477K|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E601K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E475K|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	601					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCtcacgttcacgttcacgt	0.458000													16	21					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36385145	36385145	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:36385145C>T	ENST00000373204.4	+	19	2724	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P	AGO1_ENST00000373206.1_Silent_p.P762P	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGCGGGACCCCCAGGCCCTGG	0.542000													12	7					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229022	13229022	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:13229022C>T	ENST00000197268.8	+	11	1707	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	529						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ATCCTGCGTTCCCCTCCATCC	0.557000													20	46					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449371	25449371	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:25449371C>T	ENST00000424208.1	+	0	2263				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CGTCAGTGTTCGTCAGCCTGG	0.617000													6	17					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159907540	159907540	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:159907540G>A	ENST00000368094.1	-	4	533	c.336C>T	c.(334-336)ttC>ttT	p.F112F	IGSF9_ENST00000361509.3_Silent_p.F112F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	112	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGTCCAGGAAGAACACGC	0.607000													38	52					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494752	55494752	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55494752C>T	ENST00000543010.1	+	6	1829	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000448584.2_Silent_p.N562N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000537859.1_Silent_p.N540N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	562					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542000													12	34					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080387	5080387	+	Silent	SNP	G	G	A	rs139722116		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5080387G>A	ENST00000321522.2	-	1	470	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F157F(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGAATGACGAAAATTAAAG	0.453000													6	15					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368359	45368359	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:45368359C>T	ENST00000559488.1	+	9	1181	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	ITGB3_ENST00000560629.1_Missense_Mutation_p.P377L|ITGB3_ENST00000571680.1_Missense_Mutation_p.P389S|ITGB3_ENST00000435993.2_Missense_Mutation_p.P342S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	389					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCGTGACCTCCCTGAAGAGTT	0.478000													44	74					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990556	137990556	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:137990556C>T	ENST00000409968.1	+	9	2181	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	THSD7B_ENST00000413152.2_Missense_Mutation_p.S637L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S668L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGGAGACATCGCCTTGGGGC	0.512000													18	39					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333220	27333220	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:27333220C>T	ENST00000405846.3	-	2	966	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	GPR12_ENST00000381436.2_Missense_Mutation_p.G249R	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	249						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GTGGAGACCCCTTTCCGGGTG	0.547000													10	20					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33241626	33241626	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:33241626C>T	ENST00000373477.4	-	13	2451	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	515					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GAAATGGAGCCCAGCTTGGTC	0.483000													19	11					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13251192	13251192	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:13251192G>A	ENST00000276297.4	-	4	1593	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	DLC1_ENST00000511869.1_Missense_Mutation_p.S395L|DLC1_ENST00000316609.5_Missense_Mutation_p.S395L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	395					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGATCCTGATTCCAGATC	0.423000													19	80					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518304	45518304	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:45518304C>T	ENST00000291574.4	+	21	3410	c.3235C>T	c.(3235-3237)Ctc>Ttc	p.L1079F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1079					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AACAGGCTCCCTCTGCTCCCT	0.478000													41	61					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	354004	354004	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:354004C>T	ENST00000316418.5	+	3	278	c.234C>T	c.(232-234)ctC>ctT	p.L78L	AHRR_ENST00000505113.1_Silent_p.L78L|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Silent_p.L74L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	78	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGTTACCTCCGGGTGAAGA	0.597000													13	44					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38875853	38875853	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38875853C>T	ENST00000359357.3	+	62	9073	c.8819C>T	c.(8818-8820)tCa>tTa	p.S2940L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S3157L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2904L					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						TACTTCATTTCAAGATCAAGG	0.358000													5	22					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073811	90073811	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:90073811G>A	ENST00000405460.2	+	62	12713	c.12617G>A	c.(12616-12618)gGa>gAa	p.G4206E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4206	Calx-beta 28.				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)		GAAACATCAGGAAAACTGACA	0.458000													6	5					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19496146	19496146	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:19496146C>T	ENST00000328041.6	+	3	483	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	96						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCATGAATTCCCCAATGACAT	0.498000													30	92					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000361570.3_Silent_p.A169A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	21					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226084	24226084	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:24226084G>A	ENST00000303531.7	+	17	2121	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	658	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATCAGAATTCGAAGGATTTTC	0.428000													17	29					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163309173	163309173	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:163309173C>T	ENST00000271452.3	+	8	791	c.512C>T	c.(511-513)tCt>tTt	p.S171F	NUF2_ENST00000367900.3_Missense_Mutation_p.S171F|NUF2_ENST00000524800.1_Missense_Mutation_p.S171F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	171	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GTGTTAAGTTCTGTTCCAGTT	0.348000													21	27					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968586	55968586	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:55968586T>A	ENST00000263923.4	-	14	2372	c.2077A>T	c.(2077-2079)Aat>Tat	p.N693Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	693	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGAGGGGGATTCCCAGATGCC	0.473000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	47					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153553686	153553686	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:153553686G>A	ENST00000369915.3	+	10	1508	c.1317_splice	c.e10-1	p.G440_splice	TKTL1_ENST00000217905.7_Splice_Site_p.G180_splice|TKTL1_ENST00000369912.2_Splice_Site_p.G384_splice	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	440					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					ATGCCCTAGGGGATGTGCTTC	0.483000													22	21					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431503	106431503	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106431503G>A	ENST00000407775.2	+	2	422	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	58					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)			TCTGAGCTGCGAAGAAGTGGA	0.358000													23	86					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545960	82545960	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:82545960C>T	ENST00000423517.2	-	7	11679	c.11342G>A	c.(11341-11343)cGa>cAa	p.R3781Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R501Q|PCLO_ENST00000333891.8_Missense_Mutation_p.R3781Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3712					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						TTGTTTCTTTCGAAGTTTTGC	0.443000													11	20					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768091	121768091	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:121768091G>A	ENST00000282561.3	+	2	255	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	33					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTCATTTTCCGAATCCTGCTG	0.512000													21	60					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680079	43680079	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43680079C>T	ENST00000404580.1	-	3	740	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG5_ENST00000599812.1_Missense_Mutation_p.E311K|PSG5_ENST00000342951.6_Missense_Mutation_p.E218K|PSG5_ENST00000366175.3_Missense_Mutation_p.E218K|PSG5_ENST00000407356.1_Missense_Mutation_p.E218K|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCCGTATTTCACATTCATAG	0.517000													63	92					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42836680	42836680	+	Silent	SNP	C	C	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:42836680C>G	ENST00000405592.1	+	5	775	c.105C>G	c.(103-105)ctC>ctG	p.L35L	MTA3_ENST00000406911.1_Silent_p.L91L|MTA3_ENST00000406652.1_Silent_p.L35L|MTA3_ENST00000405094.1_Silent_p.L91L|MTA3_ENST00000407270.3_Silent_p.L91L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	91	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L91L(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATAGGGAACTCTTTTTGTCAC	0.383000													19	42					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864560	13864560	+	Silent	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13864560A>G	ENST00000265104.4	-	28	4646	c.4542T>C	c.(4540-4542)ttT>ttC	p.F1514F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1514	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTAACTTAAAGCTTTCAT	0.453000									Kartagener syndrome				19	33					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194322	60194322	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:60194322G>A	ENST00000267484.5	-	3	1415	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	360					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGCTTCTTTGATGGCGGTGA	0.617000													12	13					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119426292	119426292	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:119426292C>T	ENST00000273390.5	+	3	320	c.243C>T	c.(241-243)atC>atT	p.I81I	MAATS1_ENST00000463700.1_Silent_p.I81I	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GTAACCTGATCCATTATCCAA	0.403000													9	29					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350856	21350856	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21350856G>A	ENST00000380210.1	-	1	521	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	11					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGCACCACCAGGGCCATCAGT	0.522000													19	20					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443472	78443472	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:78443472G>A	ENST00000278550.7	-	21	3489	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGTCACAGCTGGGAATCTCAT	0.557000													14	22					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134111	22134111	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22134111C>T	ENST00000408935.1	+	1	815	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGGTGGTGTCTGTCTTCTAC	0.502000													15	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088834	9088834	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9088834G>A	ENST00000397910.4	-	1	3184	c.2981C>T	c.(2980-2982)gCt>gTt	p.A994V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	994	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						CATTACAGTAGCAGAGAGAGA	0.478000													58	155					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108034134	108034134	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108034134G>A	ENST00000280758.5	+	13	3312	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L	BTBD11_ENST00000420571.2_Silent_p.L809L|BTBD11_ENST00000494235.2_Silent_p.L7L|BTBD11_ENST00000490090.2_Silent_p.L928L|BTBD11_ENST00000357167.4_Silent_p.L465L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	928	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTACATTTCTGGTAGAAGGAA	0.368000													16	42					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190054	124190054	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124190054G>A	ENST00000357438.2	-	1	130	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGCCTGCCAGGATAAACTCA	0.418000													28	66					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989377	53989377	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:53989377G>A	ENST00000514921.1	+	3	439	c.326G>A	c.(325-327)aGg>aAg	p.R109K	MLIP_ENST00000358276.5_Missense_Mutation_p.R103K|MLIP_ENST00000274897.5_Missense_Mutation_p.R109K|MLIP_ENST00000370877.2_Missense_Mutation_p.R57K|MLIP_ENST00000509997.1_Missense_Mutation_p.R57K|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.R47K|MLIP_ENST00000502396.1_Missense_Mutation_p.R120K			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	109						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTACAAGAAAGGGAATTCGAA	0.453000													29	86					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3215455	3215455	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3215455G>A	ENST00000380059.3	-	3	404	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SLC4A11_ENST00000380056.3_Silent_p.S74S|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.S58S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	74					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGACACGATGGAGGAGTTGG	0.562000													14	58					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009059	88009059	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:88009059G>A	ENST00000276127.4	+	3	903	c.644G>A	c.(643-645)gGa>gAa	p.G215E	CPXCR1_ENST00000373111.1_Missense_Mutation_p.G215E	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	215						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGACATCAGGAAAATTTTGC	0.413000													11	3					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209489	50209489	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50209489G>A	ENST00000392518.4	+	12	1534	c.1160_splice	c.e12-1	p.G388_splice	CPT1C_ENST00000323446.5_Splice_Site_p.G388_splice|CPT1C_ENST00000405931.2_Splice_Site_p.G377_splice|CPT1C_ENST00000598293.1_Splice_Site_p.G388_splice|CPT1C_ENST00000354199.5_Splice_Site_p.G388_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	388					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCTCCAGGGGCACGTGGGC	0.687000													11	16					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496116	9496116	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9496116C>T	ENST00000246070.2	+	2	573	c.81C>T	c.(79-81)atC>atT	p.I27I	LAMP5_ENST00000427562.2_Silent_p.I27I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	27						integral to membrane											TGGCTCAAATCATGGCAGAAC	0.502000													22	60					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102198041	102198041	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:102198041G>A	ENST00000335968.3	-	17	2308	c.2092C>T	c.(2092-2094)Cgt>Tgt	p.R698C	TARSL2_ENST00000559492.1_Intron	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	698					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACCTGACGAGGAGATAGC	0.333000													7	8					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990777	63990777	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:63990777G>A	ENST00000370657.4	-	4	712	c.679C>T	c.(679-681)Cct>Tct	p.P227S	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	227					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)	GTTAAAGCAGGAAAAGATATA	0.398000													11	22					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770229	152770229	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:152770229C>T	ENST00000331595.4	+	2	326	c.140C>T	c.(139-141)tCg>tTg	p.S47L	BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	47						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGACACCTCGGGCGTCCTG	0.627000													47	23					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50592989	50592989	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:50592989G>A	ENST00000380877.3	-	6	1117	c.694C>T	c.(694-696)Cca>Tca	p.P232S	GABPB1_ENST00000359031.4_Missense_Mutation_p.P232S|GABPB1_ENST00000429662.2_Missense_Mutation_p.P244S|GABPB1_ENST00000543881.1_Missense_Mutation_p.P168S|GABPB1_ENST00000560825.1_Missense_Mutation_p.P232S|GABPB1_ENST00000220429.8_Missense_Mutation_p.P244S|GABPB1_ENST00000396464.3_Missense_Mutation_p.P232S	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTCTAACCTGGAGTTTCTGAA	0.448000													15	20					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902500	247902500	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:247902500G>A	ENST00000283225.2	+	1	584	c.584G>A	c.(583-585)aGt>aAt	p.S195N	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						GCCATCATTAGTGTCAGTGTG	0.403000													78	87					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8630023	8630023	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:8630023G>A	ENST00000382073.3	+	6	779	c.593G>A	c.(592-594)aGg>aAg	p.R198K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	198	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAAACTAGAAGGAATTCAATA	0.383000													11	22					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053560	11053560	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:11053560C>T	ENST00000295082.1	+	1	1498	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	336						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGGTATCTTCGTCTTCTCTG	0.597000													14	33					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785692	113785692	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:113785692C>T	ENST00000327407.2	-	5	369	c.261_splice	c.e5-1	p.E88_splice	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	88					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATATTTTTTTCCTGGGGGTGG	0.468000													11	36					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95945599	95945599	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:95945599C>T	ENST00000317620.9	+	11	1414	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	PROM2_ENST00000542147.1_Silent_p.I427I|PROM2_ENST00000317668.4_Silent_p.I427I|PROM2_ENST00000403131.2_Silent_p.I427I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	427						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCAGGTGGATCGTGGGCTGCG	0.627000													17	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085017	9085017	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9085017G>A	ENST00000397910.4	-	1	7001	c.6798C>T	c.(6796-6798)ttC>ttT	p.F2266F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2266	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						TCTTTTCTGGGAAATGTGAGA	0.438000													8	13					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56691956	56691956	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56691956G>A	ENST00000357330.2	+	3	171	c.87_splice	c.e3-1	p.G30_splice	GALP_ENST00000440823.1_Intron|GALP_ENST00000590002.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	30					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCTATCCAGGGACGAGGAGGC	0.602000													12	22					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003771	122003771	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122003771G>A	ENST00000498619.1	+	7	3438	c.3000G>A	c.(2998-3000)agG>agA	p.R1000R	CASR_ENST00000490131.1_Silent_p.R990R|CASR_ENST00000296154.5_Silent_p.R990R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	990					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGCCCACAGGAATTCTACGC	0.577000													12	21					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:47533301C>T	ENST00000334194.3	+	1	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	47						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCACCTGTTTCCTGCACCCCC	0.488000													39	31					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578046	30578046	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:30578046C>T	ENST00000378962.3	-	3	749	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	143										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GAGGGAAAATCTGTTGTCACT	0.428000													19	7					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631866	35631866	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:35631866C>T	ENST00000287272.2	+	15	2341	c.2321C>T	c.(2320-2322)cCt>cTt	p.P774L	UNC5D_ENST00000449677.1_Missense_Mutation_p.P419L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P843L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P848L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P776L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P838L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	843					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCACTTTCCCTGCACAGACT	0.468000													21	83					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075544	76075544	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:76075544G>A	ENST00000395215.3	+	0	1184																											gaggctgtgggaccaggagga	0.597000													69	156					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361681	105361681	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:105361681C>T	ENST00000297581.2	+	2	950	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	301					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCTCCCCATACTTATCCATCT	0.478000													52	174					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49308208	49308208	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:49308208G>A	ENST00000266984.5	+	3	549	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.E108K			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	108										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGACCTGTCCGAAGCCGAGGA	0.512000													21	47					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50775127	50775127	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50775127C>T	ENST00000440075.2	+	26	3240	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	MYH14_ENST00000598205.1_Missense_Mutation_p.R1032C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1024C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1032C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1057C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1065C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1065C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1024					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGAAGATCGTCTGGCCGA	0.582000													6	19					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44459632	44459632	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:44459632C>T	ENST00000372318.3	+	5	664	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	165										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCCAGACACCTGAGGTGAGG	0.542000													9	7					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34292434	34292434	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:34292434G>A	ENST00000361162.6	-	17	1928	c.1544C>T	c.(1543-1545)gCa>gTa	p.A515V	RBM39_ENST00000528062.3_Missense_Mutation_p.A499V|RBM39_ENST00000253363.6_Missense_Mutation_p.A521V|RBM39_ENST00000407261.4_Missense_Mutation_p.A364V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	521	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGCTGTGTTGCTGTCATAGA	0.353000													22	49					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777075	156777075	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:156777075G>A	ENST00000392306.2	-	8	1234	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	SH2D2A_ENST00000368199.3_Silent_p.P355P|SH2D2A_ENST00000368198.3_Silent_p.P337P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	355	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGCTGGTGGGGCAGGGGAG	0.597000													22	15					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727470	141727470	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:141727470G>A	ENST00000475668.2	+	10	1210	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	MGAM_ENST00000549489.2_Missense_Mutation_p.E386K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	386	Maltase.				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)	CAGTCGTTACGAATATGGAAC	0.458000													15	28					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196254848	196254848	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:196254848C>T	ENST00000367433.5	-	22	2665	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R805Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R879Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	879						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAAGGCAGTCGAAACATAAA	0.383000													17	35					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43275469	43275469	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:43275469C>T	ENST00000372569.3	-	4	213	c.209G>A	c.(208-210)gGt>gAt	p.G70D	CRIP3_ENST00000274990.4_Missense_Mutation_p.G70D|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	70						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCCTACACCACCAATGTTCAC	0.622000													33	43					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31647190	31647190	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:31647190G>A	ENST00000375494.3	+	3	288	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	96	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CTAGTCTGAAGATTGAGGAGC	0.602000													6	7					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30952051	30952051	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:30952051G>A	ENST00000402321.1	-	3	478	c.161C>T	c.(160-162)cCa>cTa	p.P54L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P54L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P54L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P54L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P54L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P54L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P54L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	54					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						GAGTGCAGGTGGAGAGCAGGA	0.677000													33	47					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766516	88766516	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:88766516G>A	ENST00000497649.2	+	6	802	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	MEPE_ENST00000424957.3_Missense_Mutation_p.E166K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E197K|MEPE_ENST00000361056.3_Missense_Mutation_p.E166K|MEPE_ENST00000560249.1_Missense_Mutation_p.E53K|MEPE_ENST00000540395.1_Missense_Mutation_p.E53K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	166					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTCCTGGGGGAAGAAAACAA	0.403000													22	34					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133339499	133339499	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:133339499G>A	ENST00000372394.1	+	6	846	c.363_splice	c.e6-1	p.G122_splice	ASS1_ENST00000352480.5_Splice_Site_p.G122_splice|ASS1_ENST00000372393.3_Splice_Site_p.G122_splice			P00966	ASSY_HUMAN	argininosuccinate synthase 1	122					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCATTGCAGGGGAACGATCAG	0.602000													13	31					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408643	105408643	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:105408643G>A	ENST00000333244.5	-	7	13264	c.13145C>T	c.(13144-13146)cCg>cTg	p.P4382L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4382						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)			CTGCAGCTTCGGCAGGTGCCC	0.602000													47	103					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586945	28586945	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28586945C>T	ENST00000434452.1	-	12	1970	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	DSC3_ENST00000360428.4_Missense_Mutation_p.A606T	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	606	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.A606T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAAATGGAGCTCCATGGACA	0.348000													7	24					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205416	70205416	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:70205416G>A	ENST00000269503.4	-	5	1443	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Silent_p.L108L|CBLN2_ENST00000581073.1_Silent_p.L110L|CBLN2_ENST00000585159.1_Silent_p.L224L	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	224	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTGTTTATAGAGGAAACACC	0.502000													26	42					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346556	139346556	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:139346556C>T	ENST00000413939.2	-	3	411	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000296202.7_Missense_Mutation_p.R4Q|NMNAT3_ENST00000514703.1_Missense_Mutation_p.R4Q|NMNAT3_ENST00000512391.1_Missense_Mutation_p.R4Q|NMNAT3_ENST00000511444.1_Intron	NM_001200047.1	NP_001186976.1	Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	4					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACAGGTATTCGGCTCTTCAT	0.522000													5	9					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131696297	131696297	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:131696297C>T	ENST00000372592.3	+	6	1209	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PHYHD1_ENST00000421063.2_Silent_p.F92F|PHYHD1_ENST00000353176.5_Silent_p.F92F|PHYHD1_ENST00000308941.5_Silent_p.F92F	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CAGGAAATTTCCTGGTCCCTC	0.557000													24	54					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866571	106866571	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:106866571C>T	ENST00000390618.2	-	0	260																											CCAGCCCCTTCCCTGGAGCCT	0.557000													33	100					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:228884786C>T	ENST00000392056.3	-	7	830	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E262K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	262						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCACTTTTCCTTGTTGCAA	0.378000													40	95					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665555	20665555	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:20665555C>T	ENST00000357366.3	+	1	61	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	21					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)		ATGTTTGCACCGTCATTCAGT	0.363000													7	15					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30536451	30536451	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:30536451C>T	ENST00000358365.3	+	19	2049	c.1822C>T	c.(1822-1824)Cta>Tta	p.L608L	RHOT1_ENST00000583994.1_Silent_p.L481L|RHOT1_ENST00000581094.1_3'UTR|RHOT1_ENST00000545287.2_Intron|RHOT1_ENST00000394692.2_Silent_p.L608L|RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000333942.6_Intron	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	0					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTGGGTCTTTCTAAAAACTGC	0.353000													8	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13820557	13820557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13820557G>A	ENST00000265104.4	-	41	6843	c.6739C>T	c.(6739-6741)Cag>Tag	p.Q2247*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2247	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGAATAGCTGGATGACCTTC	0.502000									Kartagener syndrome				13	32					0	0	1	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409227	35409227	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:35409227G>A	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							ATCTCGCCAGGAGAGGCCTCC	0.453000													12	30					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406287	17406287	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:17406287G>A	ENST00000470360.1	+	6	870	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SLC7A2_ENST00000398090.3_Silent_p.V251V|SLC7A2_ENST00000522656.1_Silent_p.V211V|SLC7A2_ENST00000004531.10_Silent_p.V251V|SLC7A2_ENST00000494857.1_Silent_p.V211V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	211					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGGTTTGTGAAAGGAAATG	0.363000													27	80					0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54367532	54367532	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54367532C>T	ENST00000546378.1	+	1	623	c.507C>T	c.(505-507)ccC>ccT	p.P169P	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Silent_p.P169P|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	169					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCGCCGAGCCCCCCTGCTCCG	0.711000			T	NUP98	AML								10	26					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303792	171303792	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:171303792C>T	ENST00000367749.3	+	8	1400	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	357					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAGTCTTTCCCTTAAACCTA	0.408000													21	72					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985152	72985152	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:72985152G>A	ENST00000553530.1	+	15	1392	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	RGS6_ENST00000554782.1_Silent_p.G256G|RGS6_ENST00000434263.2_Silent_p.G326G|RGS6_ENST00000555571.1_Silent_p.G395G|RGS6_ENST00000407322.4_Silent_p.G395G|RGS6_ENST00000553525.1_Silent_p.G395G|RGS6_ENST00000402788.2_Silent_p.G395G|RGS6_ENST00000404301.2_Silent_p.G395G|RGS6_ENST00000343854.6_Silent_p.G358G|RGS6_ENST00000406236.4_Silent_p.G395G|RGS6_ENST00000556437.1_Silent_p.G395G|RGS6_ENST00000355512.6_Silent_p.G395G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	395	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGGCTCCAGGGGCTCCAAGTG	0.473000													14	45					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748469	19748469	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:19748469G>A	ENST00000222567.5	-	1	241	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	57						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GCGACAGCGCGATGTGCCTTT	0.597000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	32					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246306	166246306	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:166246306G>A	ENST00000375437.2	+	27	6280	c.5990G>A	c.(5989-5991)gGg>gAg	p.G1997E	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1997E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1997E|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1997E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1997					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)	GAAGACAAAGGGAAAGATATC	0.373000													5	12					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567438	45567438	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:45567438G>A	ENST00000588982.1	-	3	542	c.41C>T	c.(40-42)cCc>cTc	p.P14L	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P14L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P14L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P14L|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P14L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	14						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTGTGGTTGGGGAAGGGAAT	0.572000													21	42					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152550884	152550884	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:152550884C>T	ENST00000397345.3	-	20	2051	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	NEB_ENST00000603639.1_Missense_Mutation_p.D617N|NEB_ENST00000172853.10_Missense_Mutation_p.D617N|NEB_ENST00000604864.1_Missense_Mutation_p.D617N|NEB_ENST00000409198.1_Missense_Mutation_p.D617N|NEB_ENST00000427231.2_Missense_Mutation_p.D617N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	617					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	p.D617N(2)		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)		ATCTTGGGATCGTCATTAATG	0.428000													44	95					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063034	55063034	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:55063034C>T	ENST00000371316.3	+	7	792	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.T237I	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	237	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGGGCAACACCTTTGGGGGC	0.627000													15	8					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176424	151176424	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:151176424C>T	ENST00000282466.3	-	1	73	c.74G>A	c.(73-75)gGg>gAg	p.G25E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	25					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCCTTGCCCCCAGGGGTGGC	0.542000													13	34					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995697	140995697	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:140995697C>T	ENST00000285879.4	+	4	2793	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	836							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCCCCTCCTCCACTTCA	0.557000										HNSCC(15;0.026)			60	40					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012584	16012584	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:16012584G>A	ENST00000350896.3	-	6	1084	c.887C>T	c.(886-888)cCa>cTa	p.P296L	MSR1_ENST00000381998.4_Missense_Mutation_p.P296L|MSR1_ENST00000445506.2_Missense_Mutation_p.P314L|MSR1_ENST00000355282.2_Missense_Mutation_p.P296L|MSR1_ENST00000536385.1_Missense_Mutation_p.P70L|MSR1_ENST00000262101.5_Missense_Mutation_p.P296L	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	296	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TATTGGACCTGGAAATCCTCG	0.403000													21	22					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	140997202	140997202	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:140997202C>T	ENST00000508812.1	+	2	1978	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000393010.2_Missense_Mutation_p.S33L|ACPL2_ENST00000286353.4_Missense_Mutation_p.S33L|ACPL2_ENST00000504264.1_Missense_Mutation_p.S16L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.S17L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	33						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATCCCGGTGTCGACTCCTAAG	0.567000													15	33					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43373499	43373499	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:43373499C>T	ENST00000380486.3	-	1	500	c.259G>A	c.(259-261)Gag>Aag	p.E87K	C2CD2_ENST00000478372.1_5'UTR	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	87						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCGGCCTCCTCGTTCAGGGCG	0.741000													8	8					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66105743	66105743	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:66105743G>A	ENST00000359957.3	-	9	864	c.704C>T	c.(703-705)gCt>gTt	p.A235V	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.A235V	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	235					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AGGGGACACAGCTGCCCTAGC	0.602000													7	10					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201467062	201467062	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:201467062C>T	ENST00000374700.2	+	6	733	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	164					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)	GCAAGACTTTCTGTAAAGTAA	0.453000													16	27					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60926966	60926966	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:60926966C>T	ENST00000252999.3	-	5	923	c.858_splice	c.e5+1	p.R286_splice	LAMA5_ENST00000370692.3_Splice_Site_p.R286_splice|LAMA5_ENST00000370677.3_Splice_Site_p.R286_splice	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	286	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGCTCACCCGGCGGGTGAC	0.721000													5	5					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51191210	51191210	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51191210G>A	ENST00000293441.1	-	17	2296	c.2278C>T	c.(2278-2280)Ccg>Tcg	p.P760S	SHANK1_ENST00000391814.1_Missense_Mutation_p.P760S|SHANK1_ENST00000391813.1_Missense_Mutation_p.P147S|SHANK1_ENST00000359082.3_Missense_Mutation_p.P751S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	760					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCATGTCCGGGTGCCTGGTG	0.647000													16	45					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770220	112770220	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:112770220C>T	ENST00000390666.3	-	1	508	c.317G>A	c.(316-318)gGa>gAa	p.G106E	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	106	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATGCAGGGCTCCCCGGGTTTT	0.552000													11	30					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13010515	13010515	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:13010515C>T	ENST00000457854.1	+	12	1322	c.1243_splice	c.e12-1	p.V415_splice	GCDH_ENST00000222214.5_3'UTR|GCDH_ENST00000591470.1_3'UTR|SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000422947.2_3'UTR|GCDH_ENST00000588242.2_3'UTR	NM_013976.2	NP_039663.1	Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	0					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CTTCTGAAGTCGTTCAGATGT	0.438000													12	27					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275568	5275568	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5275568C>T	ENST00000380259.2	-	7	1509	c.269G>A	c.(268-270)aGt>aAt	p.S90N	HBG2_ENST00000380252.1_Missense_Mutation_p.S80N|HBG2_ENST00000336906.4_Missense_Mutation_p.S90N					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCAGTTCACTCAGCTGGGC	0.512000													18	81					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893250	1893250	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:1893250C>T	ENST00000399161.2	-	16	3031		c.e16-1		MYT1L_ENST00000428368.2_Splice_Site	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCAGGGTTCTGTCGGTAGA	0.592000													13	35					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206903	58206903	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58206903G>A	ENST00000302572.2	-	1	743	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAAGGTGGGAAGCACAAGT	0.428000													12	41					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513903	1513903	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:1513903C>T	ENST00000421627.2	+	3	1179	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	428					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGGAGATTCCCTGCAGGAG	0.537000													8	25					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951199	38951199	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:38951199G>A	ENST00000355481.4	+	20	2676	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	RYR1_ENST00000360985.3_Missense_Mutation_p.D849N|RYR1_ENST00000359596.3_Missense_Mutation_p.D849N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	849	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCACACACCGACTTCGTGCC	0.642000													27	67					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582374	247582374	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:247582374A>G	ENST00000366497.2	+	2	1058	c.278A>G	c.(277-279)aAg>aGg	p.K93R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.K93R|NLRP3_ENST00000391828.3_Missense_Mutation_p.K93R|NLRP3_ENST00000391827.2_Missense_Mutation_p.K93R|NLRP3_ENST00000336119.3_Missense_Mutation_p.K93R|NLRP3_ENST00000366496.2_Missense_Mutation_p.K93R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	93	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GATGAGCCGAAGTGGGGTGAG	0.403000													11	17					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749042	38749042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38749042C>T	ENST00000359357.3	+	14	1755	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q718*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q501*					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						TTATCATTCTCAGAAAGATGA	0.383000													10	61					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:48068433C>T	ENST00000297325.4	-	1	262	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_ENST00000395572.2_Missense_Mutation_p.E35K|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000453192.2_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000													26	60					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965309	196965309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:196965309G>A	ENST00000367414.5	+	6	1076	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	CFHR5_ENST00000256785.4_Nonsense_Mutation_p.W316*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	316	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGGAATATGGACAGAGCTTC	0.338000													25	46					0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25266623	25266623	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:25266623T>C	ENST00000222674.2	-	2	207	c.161A>G	c.(160-162)gAa>gGa	p.E54G		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	54					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAGGCTTCTTTCCCCTTTTGG	0.353000													19	40					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:54604068G>A	ENST00000474759.1	+	8	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_ENST00000490478.1_Silent_p.A181A|CACNA2D3_ENST00000288197.5_Silent_p.A275A|CACNA2D3_ENST00000415676.2_Silent_p.A275A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	275	VWFA.					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)		TGACTATCGCGAAGCAAACAG	0.473000													31	56					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482657	48482657	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:48482657G>A	ENST00000004980.5	-	5	785	c.307C>T	c.(307-309)Cca>Tca	p.P103S	SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.P103S|SENP1_ENST00000448372.1_Missense_Mutation_p.P103S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.P103S|SENP1_ENST00000551330.1_Missense_Mutation_p.P103S			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	103	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTTGACGATGGGGTAGAATTT	0.398000													5	8					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330979	21330979	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:21330979C>T	ENST00000399167.2	+	12	1310	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F	AIFM3_ENST00000405089.1_Missense_Mutation_p.S363F|AIFM3_ENST00000399163.2_Missense_Mutation_p.S357F|AIFM3_ENST00000333607.6_Missense_Mutation_p.S357F|AIFM3_ENST00000335375.5_Missense_Mutation_p.S345F|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.S357F	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGGCCCACTCTGTGTCTGTG	0.657000													7	5					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915984	25915984	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:25915984C>T	ENST00000377850.3	-	9	1567	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	SLC17A2_ENST00000360488.3_Missense_Mutation_p.R348Q|SLC17A2_ENST00000265425.3_Missense_Mutation_p.R348Q			O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAAGAGCTTTCGCACAGTGAT	0.473000													25	72					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031432	97031432	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:97031432C>T	ENST00000329399.6	-	2	314	c.206G>A	c.(205-207)aGa>aAa	p.R69K	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	69	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCCTTTGATTCTGTTCTGAGC	0.433000													53	69					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150858926	150858926	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:150858926C>T	ENST00000243389.3	+	10	1258	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SLC36A1_ENST00000520701.1_Silent_p.F345F|SLC36A1_ENST00000521925.1_Silent_p.F345F	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	345					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGATCTTTTTCACCTACGCAC	0.522000													27	65					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214258	11214258	+	Silent	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:11214258A>G	ENST00000533467.1	-	1	635	c.636T>C	c.(634-636)caT>caC	p.H212H	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	212					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATCCTTTGCCATGGAGCTGCA	0.413000													45	107					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098693	70098693	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:70098693G>A	ENST00000370598.1	+	32	5300	c.4479G>A	c.(4477-4479)aaG>aaA	p.K1493K	BAI3_ENST00000238918.8_Silent_p.K699K|BAI3_ENST00000546190.1_Silent_p.K457K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1493					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)				CAGAGGCAAAGGATGCTTTGG	0.443000													10	31					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751350	26751350	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:26751350C>T	ENST00000396641.2	+	2	779	c.187C>T	c.(187-189)Cct>Tct	p.P63S	LRRC3B_ENST00000456208.2_Missense_Mutation_p.P63S|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P63S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	63	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TAGAGATCTTCCTCCTGAAAC	0.428000													12	32					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252589	46252589	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:46252589G>A	ENST00000510861.1	-	10	1265	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	GABRA2_ENST00000507069.1_Silent_p.N424N|GABRA2_ENST00000540012.1_Silent_p.N369N|GABRA2_ENST00000381620.4_Silent_p.N364N|GABRA2_ENST00000356504.1_Silent_p.N364N|GABRA2_ENST00000514090.1_Silent_p.N364N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	364					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATAAGCGTTGTTCTGTATCA	0.408000													22	51					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045065	102045065	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:102045065G>A	ENST00000549145.1	+	15	1484	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	MYBPC1_ENST00000541119.1_Missense_Mutation_p.E437K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E449K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E350K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E435K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E449K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E449K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E436K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E423K|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E430K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E449K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E449K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E474K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E449K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E474K|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	449	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTTGGAAAAGAAATCTGCCT	0.418000													22	85					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053495	17053495	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:17053495G>A	ENST00000418129.2	+	2	2744	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	PLCL2_ENST00000432376.1_Missense_Mutation_p.G760E|PLCL2_ENST00000396755.2_Missense_Mutation_p.G760E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	886	C2.				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						CGAAGAGGAGGAGGAAAGCCT	0.483000													25	49					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277454	152277454	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152277454C>T	ENST00000368799.1	-	3	9943	c.9908G>A	c.(9907-9909)gGa>gAa	p.G3303E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3303	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCGGGATCCGTGTCTCTC	0.572000									Ichthyosis				333	404					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54926111	54926111	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:54926111G>A	ENST00000284061.3	+	6	1123	c.943G>A	c.(943-945)Gat>Aat	p.D315N		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	315	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AACAGGCAACGATCTATCCAA	0.398000													18	100					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122350982	122350982	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122350982G>A	ENST00000483793.1	+	7	943	c.903G>A	c.(901-903)atG>atA	p.M301I	PARP15_ENST00000464300.2_Missense_Mutation_p.M496I|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.M193I|PARP15_ENST00000310366.4_Missense_Mutation_p.M262I			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	474	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			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)		TGTTTTGCATGGTCCAGCTAG	0.403000													13	26					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936035	4936035	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4936035G>A	ENST00000322013.3	-	1	887	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGGAAAGAGAAGATACATG	0.493000													17	37					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815630	106815630	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106815630G>T	ENST00000407775.2	+	8	3570	c.3320G>T	c.(3319-3321)gGt>gTt	p.G1107V	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G838V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G975V|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G975V|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1107					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)			ATAGCAAAAGGTGTGAATGGT	0.443000													8	30					0.000274275	0.000275077	1	1	0
OR1D5	8386	broad.mit.edu	37	17	2966353	2966353	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:2966353G>A	ENST00000575751.1	-	1	548	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GCCACAGCAGGATGTACATGT	0.542000													5	20					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54970422	54970422	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54970422C>T	ENST00000243052.3	+	14	1880	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R462C|PDE1B_ENST00000538346.1_Missense_Mutation_p.R441C|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	482	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGTCAGCTTTCGTTCCACCTG	0.562000													11	15					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553057	117553057	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:117553057G>A	ENST00000374045.4	-	4	544	c.431C>T	c.(430-432)tCg>tTg	p.S144L	TNFSF15_ENST00000374044.1_Missense_Mutation_p.S67L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	144					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.S144L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GTAGTCTCCCGACTCTGGGAT	0.498000													14	37					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:25718576C>T	ENST00000520164.1	-	13	1868	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000													16	109					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455579	189455579	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:189455579C>T	ENST00000264731.3	+	2	202	c.113C>T	c.(112-114)tCc>tTc	p.S38F	TP63_ENST00000418709.2_Missense_Mutation_p.S38F|TP63_ENST00000382063.4_Missense_Mutation_p.S38F|TP63_ENST00000440651.2_Missense_Mutation_p.S38F|TP63_ENST00000392460.3_Missense_Mutation_p.S38F|TP63_ENST00000320472.5_Missense_Mutation_p.S38F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	38	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TATTACCGATCCACCATGTCC	0.368000										HNSCC(45;0.13)			12	53					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266221	100266221	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:100266221C>T	ENST00000515683.1	-	0	716				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGCAGGGTCCCCCGAGGATT	0.542000													10	40					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7301800	7301800	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:7301800G>A	ENST00000244763.4	-	4	372	c.286C>T	c.(286-288)Cca>Tca	p.P96S	SSR1_ENST00000479365.1_Missense_Mutation_p.P96S|SSR1_ENST00000397511.2_Missense_Mutation_p.P96S|SSR1_ENST00000462112.1_Missense_Mutation_p.P96S|SSR1_ENST00000474597.1_Missense_Mutation_p.P96S|SSR1_ENST00000534851.1_Missense_Mutation_p.P69S|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000488834.1_5'UTR	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	96					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					TTATTTGCTGGAAAATCTGAG	0.358000													14	63					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075543	76075543	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:76075543G>A	ENST00000395215.3	+	0	1183																											agaggctgtgggaccaggagg	0.597000													68	158					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980652	14980652	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:14980652C>T	ENST00000287667.7	+	28	3428	c.3257C>T	c.(3256-3258)cCa>cTa	p.P1086L		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1086						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGACAATCCAATCCAGACA	0.478000													20	61					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708437	152708437	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:152708437C>T	ENST00000367255.5	-	54	8858	c.8257G>A	c.(8257-8259)Gat>Aat	p.D2753N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D2760N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2792N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2753N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2760N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2753					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTTTGATCCACTGATTCC	0.433000										HNSCC(10;0.0054)			19	44					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784168	151784168	+	Silent	SNP	G	G	A	rs141055680	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:151784168G>A	ENST00000255262.3	-	1	672	c.507C>T	c.(505-507)atC>atT	p.I169I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	169					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGCCCCAGACGATGCCGAGGA	0.642000													25	56					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694598	30694598	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:30694598C>T	ENST00000256246.2	-	3	8127	c.8053G>A	c.(8053-8055)Gaa>Aaa	p.E2685K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2685										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGCTGTACTTCATATGATGTT	0.418000													24	83					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077594	9077594	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9077594G>A	ENST00000397910.4	-	3	10055	c.9852C>T	c.(9850-9852)tcC>tcT	p.S3284S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3285	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						ATGGGGAGAGGGAGACCCTTT	0.547000													29	74					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													10	19					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48230567	48230567	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:48230567G>A	ENST00000381501.3	-	2	222	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTTTAAGGGCGATGTCTTCTT	0.388000													18	43					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054669	29054669	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29054669G>A	ENST00000377173.2	-	1	421	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATCTGTCAAAGGACATAACAG	0.488000													12	51					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080728	194080728	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:194080728G>A	ENST00000347624.3	-	2	1130	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	LRRC15_ENST00000439944.2_Missense_Mutation_p.H355Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.H355Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	349						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)		GCGTTGGTGTGGAGGGACAGC	0.602000													9	27					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885602	176885602	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176885602G>A	ENST00000292385.5	-	13	1848	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	DBN1_ENST00000309007.5_Silent_p.P411P|DBN1_ENST00000512501.1_Silent_p.P143P|DBN1_ENST00000393563.4_Silent_p.P143P|DBN1_ENST00000393565.1_Silent_p.P457P	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	411					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCCCCCGGGGAGGCGCCT	0.692000													6	24					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798232	123798232	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:123798232G>A	ENST00000420886.2	-	23	3154	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	SBNO1_ENST00000602750.1_Missense_Mutation_p.S1051F|SBNO1_ENST00000602398.1_Missense_Mutation_p.S1052F|SBNO1_ENST00000267176.4_Missense_Mutation_p.S1051F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1052							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTTTACAATGGATTTCATGAC	0.333000													4	18					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74943966	74943966	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74943966C>T	ENST00000569840.2	+	17	2552	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	MGAT5B_ENST00000301618.4_Missense_Mutation_p.P658S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P669S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	660						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGCAGAGCCCCTTTGTCCT	0.697000													12	36					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601621	75601621	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:75601621G>A	ENST00000549446.1	-	2	823	c.143C>T	c.(142-144)aCc>aTc	p.T48I	KCNC2_ENST00000550433.1_Missense_Mutation_p.T48I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T48I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T48I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T48I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T48I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T48I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T48I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	48					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCCGCCGTGGTCAAGCAGTC	0.741000													13	30					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170494	90170494	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:90170494G>A	ENST00000333209.3	-	2	1286	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	256										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGCCTTGGGGGCCCGAGGCAG	0.572000													22	50					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512192	233512192	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233512192G>A	ENST00000366624.3	+	8	2104	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	MLK4_ENST00000366622.1_Missense_Mutation_p.D61N	NM_032435.2	NP_115811.2																					ACCTCTCTCCGATGGCAACAG	0.393000													16	41					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692443	189692443	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:189692443G>A	ENST00000319332.5	-	9	1553	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	LEPREL1_ENST00000427335.2_Silent_p.F271F	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	452					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGTAGACGAATGTGATGT	0.537000													20	34					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755744	10755744	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:10755744C>T	ENST00000416569.2	-	3	1670	c.1644G>A	c.(1642-1644)acG>acA	p.T548T	XKR6_ENST00000304437.2_Silent_p.T269T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	548						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGTTGTTCCGTTACGGCTC	0.627000													13	39					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796925	109796925	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:109796925G>A	ENST00000297459.3	-	2	581	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	135					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCCCAGGGTGATTATGCCCT	0.483000													24	75					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35930377	35930377	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:35930377G>A	ENST00000490799.1	-	12	1740	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	SLC26A8_ENST00000394602.2_Silent_p.L358L|SLC26A8_ENST00000355574.2_Silent_p.L463L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	463					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACGTTGCTCAGAATAATACCA	0.468000													24	91					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223396816	223396816	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:223396816C>T	ENST00000343846.3	-	7	1852	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.D407N|SUSD4_ENST00000454695.2_Missense_Mutation_p.D247N			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	407						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTCTGGTCGTCCACGGGTAAG	0.647000													17	22					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090868	184090868	+	Silent	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184090868A>T	ENST00000204615.7	-	6	709	c.495T>A	c.(493-495)ctT>ctA	p.L165L	THPO_ENST00000421442.2_Intron|THPO_ENST00000445696.2_Silent_p.L161L|THPO_ENST00000477594.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	165					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCCTCCTACAAGCATCAGGA	0.592000													34	41					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193298	27193298	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:27193298T>G	ENST00000335625.5	+	11	2195	c.1307T>G	c.(1306-1308)tTg>tGg	p.L436W	GABRA5_ENST00000355395.5_Missense_Mutation_p.L436W|GABRA5_ENST00000400081.3_Missense_Mutation_p.L436W	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	436					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCCCAGTCTTGTTCGGCACT	0.438000													7	16					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3851047	3851047	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3851047C>T	ENST00000309890.7	-	8	883	c.733G>A	c.(733-735)Gag>Aag	p.E245K	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E245K|ATP2A3_ENST00000352011.3_Missense_Mutation_p.E245K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E245K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E245K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E245K	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	245					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCGTCCGCTCGGGCTCGACT	0.657000													13	35					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868450	97868450	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97868450C>T	ENST00000437310.1	+	1	281	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTTTGTTATCATCCTCAGTG	0.398000													45	124					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449860	17449860	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:17449860G>A	ENST00000302539.4	-	14	2141	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	ABCC8_ENST00000389817.3_Silent_p.G672G	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	672					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)	TGTCAGCATCGCCATCTGCAC	0.652000													59	105					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135796799	135796799	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135796799G>A	ENST00000298552.3	-	8	909	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	TSC1_ENST00000403810.1_Missense_Mutation_p.H230Y|TSC1_ENST00000545250.1_Missense_Mutation_p.H179Y|TSC1_ENST00000440111.2_Missense_Mutation_p.H230Y	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	230					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AATTCCGGATGAATTCGCACA	0.383000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				10	41					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170021	32170021	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32170021C>T	ENST00000375023.3	-	21	3725	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1196					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCCCAGTTTCCTCCCGGGCC	0.672000													19	58					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50585517	50585517	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:50585517G>A	ENST00000216373.5	-	23	3818	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S	SOS2_ENST00000543680.1_Missense_Mutation_p.P1149S	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1182	Poly-Pro.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACCTTTGGAGGAGGAGGCTGT	0.428000													9	22					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985306	140985306	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:140985306G>A	ENST00000544766.1	+	5	1395	c.868G>A	c.(868-870)Gat>Aat	p.D290N	MAGEC3_ENST00000536088.1_Missense_Mutation_p.D290N|MAGEC3_ENST00000409007.1_Missense_Mutation_p.D290N|MAGEC3_ENST00000443323.2_Missense_Mutation_p.D210N|MAGEC3_ENST00000298296.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATATATGGGGATCCCAGAAA	0.512000													35	15					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862954	10862954	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:10862954C>T	ENST00000559480.1	+	0	250																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ACAGAAGTTCCAGGCCAGAGT	0.532000													30	217					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55424204	55424204	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55424204G>A	ENST00000594765.1	+	7	902	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	NCR1_ENST00000291890.4_Missense_Mutation_p.E294K|NCR1_ENST00000447255.1_Missense_Mutation_p.E293K|NCR1_ENST00000357397.5_Missense_Mutation_p.E187K|NCR1_ENST00000598576.1_Missense_Mutation_p.E281K|NCR1_ENST00000350790.5_Missense_Mutation_p.E199K|NCR1_ENST00000338835.5_Missense_Mutation_p.E277K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	294					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTCCACTTGGGAAGGCAGGAG	0.557000													10	35					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37974631	37974631	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:37974631G>A	ENST00000377707.3	-	3	1607	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	348	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCCAGGGCTGGGATGGTGACC	0.657000													37	63					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33165255	33165255	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:33165255C>T	ENST00000280979.4	+	9	3109	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	AKAP6_ENST00000557272.1_Missense_Mutation_p.S980F|AKAP6_ENST00000557354.1_Missense_Mutation_p.S980F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	980					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACATGGAGTCCCTTGTGATG	0.473000													17	29					0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12600729	12600729	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:12600729T>C	ENST00000398246.3	-	2	853	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	262					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATGGCTGCTTTAAACTCTTGG	0.294000													21	41					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023850	6023850	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:6023850C>T	ENST00000574946.1	+	9	1987	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	WSCD1_ENST00000317744.5_Missense_Mutation_p.R533W|WSCD1_ENST00000573634.1_Missense_Mutation_p.R417W|WSCD1_ENST00000539421.1_Missense_Mutation_p.R533W|WSCD1_ENST00000574232.1_Missense_Mutation_p.R533W			Q658N2	WSCD1_HUMAN	WSC domain containing 1	533						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCGGCGCGGCCGGCGCTCCCA	0.632000													23	74					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	G	A	rs145666754		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:19553789G>A	ENST00000409832.3	+	1	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	125										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000													38	320					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366551	79366551	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:79366551G>A	ENST00000350881.2	+	12	1728	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G422E|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	513					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGCTGACGGAGATGGGATC	0.517000													22	39					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46113685	46113685	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:46113685G>A	ENST00000374366.3	-	10	2194	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	ZFAND4_ENST00000344646.5_Missense_Mutation_p.P651S|ZFAND4_ENST00000374371.2_Missense_Mutation_p.P198L|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	651							zinc ion binding										TTCACAGGTGGGAGGTGATGA	0.378000													13	18					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279336	73279336	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:73279336G>A	ENST00000320531.2	+	2	122	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	29						integral to membrane		p.R29I(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GTTCAGAACCGAGATCACCTC	0.512000													141	323					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38240093	38240093	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:38240093C>T	ENST00000450525.2	+	5	719	c.228C>T	c.(226-228)ttC>ttT	p.F76F	THRA_ENST00000584985.1_Silent_p.F76F|THRA_ENST00000546243.1_Silent_p.F76F|THRA_ENST00000264637.4_Silent_p.F76F|THRA_ENST00000394121.4_Silent_p.F76F	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	76					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCAGGGCTTCTTTCGCCGCA	0.542000													32	101					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154956	31154956	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:31154956C>T	ENST00000349752.5	-	10	1675	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	GALNT14_ENST00000356174.3_Missense_Mutation_p.G313R|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.G351R|GALNT14_ENST00000420311.2_Missense_Mutation_p.G311R|GALNT14_ENST00000406653.1_Missense_Mutation_p.G326R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	346						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTGGCATTTCCATCAGGGAAA	0.617000													12	29					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69813851	69813851	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:69813851G>A	ENST00000337827.4	+	13	1693	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	GALNT16_ENST00000553669.1_Missense_Mutation_p.G456R|GALNT16_ENST00000448469.3_Missense_Mutation_p.G456R	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CTTCCTGCTTGGAATGGGGAT	0.592000											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189677	59189677	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59189677G>A	ENST00000302040.4	-	1	772	c.750C>T	c.(748-750)acC>acT	p.T250T		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CATAGAAGAGGGTCACAGCAG	0.488000													8	24					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278808	92278808	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:92278808G>A	ENST00000435962.2	-	3	472	c.149C>T	c.(148-150)tCt>tTt	p.S50F	TC2N_ENST00000556018.1_Missense_Mutation_p.S50F|TC2N_ENST00000340892.5_Missense_Mutation_p.S50F|TC2N_ENST00000360594.5_Missense_Mutation_p.S50F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	50						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGGCTTTACAGAAACAGAAGT	0.373000													15	33					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370167	52370167	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:52370167C>T	ENST00000356297.4	-	9	973	c.873G>A	c.(871-873)atG>atA	p.M291I	PXDNL_ENST00000543296.1_Missense_Mutation_p.M291I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	291	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTTCGGATCATGAGTGTGC	0.433000													28	100					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001203	14001203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:14001203G>A	ENST00000454313.1	-	6	524	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	C19orf57_ENST00000346736.2_Nonsense_Mutation_p.Q156*|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Nonsense_Mutation_p.Q156*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	156					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGCCTCCTGGAGGGGGACC	0.667000													31	63					0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47044540	47044540	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:47044540C>T	ENST00000357424.2	-	2	155	c.55G>A	c.(55-57)Gga>Aga	p.G19R		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	19					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						TCTCCTAGTCCCACTGCCAGG	0.517000													47	76					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031649	36031649	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:36031649C>T	ENST00000373578.2	+	14	1827	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	SRC_ENST00000358208.4_Missense_Mutation_p.S493F|SRC_ENST00000373558.2_Missense_Mutation_p.S499F|SRC_ENST00000360723.4_Missense_Mutation_p.S499F|SRC_ENST00000373567.2_Missense_Mutation_p.S493F|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.S493F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	493	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGTCCCGAGTCCCTGCACGAC	0.672000													4	4					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201342	168201342	+	Missense_Mutation	SNP	G	G	T	rs151037148	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:168201342G>T	ENST00000519560.1	-	13	1612	c.1193C>A	c.(1192-1194)aCg>aAg	p.T398K	SLIT3_ENST00000404867.3_Missense_Mutation_p.T398K|SLIT3_ENST00000332966.8_Missense_Mutation_p.T398K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	398					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTGAAACGTGTTCACCCG	0.532000													69	140					3.48418e-26	3.54973e-26	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432767	104432767	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:104432767C>T	ENST00000361820.3	-	3	2527	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	643					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGTGAAATCTATCACCTGG	0.547000													30	42					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923295	43923295	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:43923295C>T	ENST00000329196.5	+	1	1040	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	341						integral to membrane	aspartic-type endopeptidase activity										GGGTGGCCTACCGCAATGAGG	0.632000													10	58					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911122	38911122	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:38911122G>A	ENST00000312150.4	-	1	462	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAATTATTGGGAAATATCTGC	0.378000													21	66					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221765	5221765	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:5221765G>A	ENST00000321255.1	-	1	165	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATATCACATGGAGAACCATG	0.522000													27	77					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190618	153190618	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:153190618G>A	ENST00000285900.5	+	16	2897	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	GRIA1_ENST00000518142.1_Missense_Mutation_p.E772K|GRIA1_ENST00000448073.4_Missense_Mutation_p.E862K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E862K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E783K|GRIA1_ENST00000340592.5_Missense_Mutation_p.E852K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	852					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCCATCAACGAAGCCATACG	0.587000													23	50					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338615	220338615	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:220338615G>A	ENST00000312358.7	+	18	4569	c.4437G>A	c.(4435-4437)ttG>ttA	p.L1479L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1479	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGTCACATTGGAGCTGGCAG	0.637000													12	65					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225594	38225594	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:38225594G>A	ENST00000379705.3	-	8	2744	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	TRPC4_ENST00000355779.2_Silent_p.D629D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.D456D|TRPC4_ENST00000379681.3_Silent_p.D629D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Silent_p.D629D|TRPC4_ENST00000447043.1_Silent_p.D629D|TRPC4_ENST00000338947.5_Silent_p.D456D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	629	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATCTGCATGGTCCTGAACAG	0.428000													15	31					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152204388	152204388	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:152204388G>A	ENST00000455694.2	+	4	603	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.E58K	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	201	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGTCATCAAGGAAGACAAGAT	0.428000													33	54					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085805	55085805	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55085805C>T	ENST00000251377.3	+	4	241	c.108C>T	c.(106-108)ggC>ggT	p.G36G	LILRA2_ENST00000391737.1_Silent_p.G24G|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.G36G|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.G36G|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.G36G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGAGCCAGGCTCTGTGATCA	0.552000													24	81					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000													24	42					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508767	26508767	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:26508767C>T	ENST00000244513.6	+	7	1012	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	316	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCATCCCCACCTCTTTCTTTA	0.463000													95	145					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513063	89513063	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:89513063G>A	ENST00000498435.1	-	0	226																											AGGAGCTTAGGAACTTTCCCT	0.512000													34	73					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589520	140589520	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140589520C>T	ENST00000239450.2	+	1	1230	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	PCDHB12_ENST00000541609.1_Silent_p.I10I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		347	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			CTCCTGAAATCACTGTGTCAT	0.438000													12	38					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833113	130833113	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:130833113G>A	ENST00000357462.5	-	15	2025	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Silent_p.I644I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	644						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTCATGCAAGATGTCTTTTT	0.343000													10	27					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610589	8610589	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:8610589G>A	ENST00000338257.8	-	13	1568	c.1301C>T	c.(1300-1302)aCt>aTt	p.T434I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	434	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGGATTGGAGTCCAGCGGAT	0.577000													80	164					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022318	189022318	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:189022318G>A	ENST00000512729.1	-	3	596	c.222C>T	c.(220-222)ctC>ctT	p.L74L	TRIML2_ENST00000326754.3_Silent_p.L74L|TRIML2_ENST00000536972.1_Silent_p.L124L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	74							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTGTCTCTGGAGATTCTGCT	0.423000													15	29					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991077	166991077	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166991077C>T	ENST00000367872.4	+	12	1534	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MAEL_ENST00000367870.2_Silent_p.F399F|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	430					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAATCTTTCTCTTCCTTAT	0.363000													22	62					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10087932	10087932	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10087932C>T	ENST00000264828.3	-	44	3346	c.3261G>A	c.(3259-3261)aaG>aaA	p.K1087K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1087	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)			CTTTACTCCCCTTGTGTCCGG	0.602000													20	50					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45141670	45141670	+	Splice_Site	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:45141670C>A	ENST00000258770.3	-	8	1443		c.e8-1		TBRG4_ENST00000494076.1_Splice_Site|TBRG4_ENST00000361278.3_Splice_Site|TBRG4_ENST00000395655.4_Splice_Site	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4						apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GACTTGCCCCCTAGGAGACAA	0.607000													20	41					1.50039e-11	1.51809e-11	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657684	143657684	+	Silent	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:143657684G>T	ENST00000392899.1	+	1	658	c.621G>T	c.(619-621)ctG>ctT	p.L207L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGTTCTTCTGATGACACCCT	0.478000													25	47					1.55469e-16	1.57769e-16	1	1	0
ABLIM3	22885	broad.mit.edu	37	5	148617105	148617105	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:148617105C>T	ENST00000506113.1	+	10	1465	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S328F|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S328F|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	328					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCATTTCCTATGAGCCT	0.498000													30	64					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38016337	38016337	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:38016337C>T	ENST00000406772.1	+	6	829	c.177C>T	c.(175-177)atC>atT	p.I59I	GGA1_ENST00000325180.8_Silent_p.I132I|GGA1_ENST00000343632.4_Silent_p.I132I|GGA1_ENST00000337437.4_Silent_p.I99I|GGA1_ENST00000381756.5_Silent_p.I149I	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	132	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGGTGAAAATCGCAGAGGCCT	0.612000													25	124					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307590	39307590	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:39307590G>A	ENST00000541347.1	-	2	650	c.411C>T	c.(409-411)tcC>tcT	p.S137S	CX3CR1_ENST00000399220.2_Silent_p.S137S|CX3CR1_ENST00000358309.3_Silent_p.S169S|CX3CR1_ENST00000542107.1_Silent_p.S137S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	137					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGTTGTTCATGGAGTTGGCGG	0.537000													19	61					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422665	31422665	+	Missense_Mutation	SNP	G	G	A	rs143276012		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:31422665G>A	ENST00000389202.2	+	14	1583	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	512					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCCGTGGTGAGCAGGGCCA	0.632000													56	137					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075170	9075170	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9075170G>A	ENST00000397910.4	-	3	12479	c.12276C>T	c.(12274-12276)atC>atT	p.I4092I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4094	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						GCATAGCAAGGATCATTCCTC	0.527000													19	49					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483434	19483434	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:19483434G>A	ENST00000396229.2	+	11	2556	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	TMC5_ENST00000219821.5_Missense_Mutation_p.E357K|TMC5_ENST00000561503.1_Missense_Mutation_p.E244K|TMC5_ENST00000564959.1_Missense_Mutation_p.E286K|TMC5_ENST00000381414.4_Missense_Mutation_p.E603K|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.E603K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	603						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCCGTCAGGAGAATTCCAA	0.532000													43	101					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030057	3030057	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3030057G>A	ENST00000328890.2	-	1	818	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGTGGGTTGAGGGAGAACTGA	0.478000													10	16					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989592	53989592	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:53989592G>A	ENST00000514921.1	+	3	654	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	MLIP_ENST00000358276.5_Missense_Mutation_p.G175R|MLIP_ENST00000274897.5_Missense_Mutation_p.G181R|MLIP_ENST00000370877.2_Missense_Mutation_p.G129R|MLIP_ENST00000509997.1_Missense_Mutation_p.G129R|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G119R|MLIP_ENST00000502396.1_Missense_Mutation_p.G192R			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	181						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAACACAGGGGACTGATCT	0.552000													11	48					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058873	152058873	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152058873G>A	ENST00000368806.1	-	3	1349	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	429							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)			AATCCTTGGAGTTCCTGATAC	0.463000													28	108					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304633	137304633	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:137304633G>A	ENST00000453654.1	-	8	569	c.30C>T	c.(28-30)tcC>tcT	p.S10S	DGKI_ENST00000424189.2_Silent_p.S310S|DGKI_ENST00000446122.1_Silent_p.S310S|DGKI_ENST00000288490.5_Silent_p.S310S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	310					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGCCCCCAGGGAGCAGGGTT	0.483000													28	77					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129026	41129026	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:41129026C>T	ENST00000373113.3	-	2	459	c.366G>A	c.(364-366)agG>agA	p.R122R	TREM2_ENST00000338469.3_Silent_p.R122R|TREM2_ENST00000373122.4_Silent_p.R122R	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	122					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGACCTTCCTGAGGGTGT	0.612000													8	37					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889196	23889196	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:23889196C>T	ENST00000532292.1	-	1	1979	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTCAGGTTCATCCTCATCT	0.572000													15	36					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818673	200818673	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:200818673C>T	ENST00000358823.2	+	11	3046	c.2776C>T	c.(2776-2778)Cca>Tca	p.P926S	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P937S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P910S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	937						cytoplasm|microtubule	protein binding										ACAACCCTCTCCACAGAAACA	0.473000													92	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616567	179616567	+	Silent	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179616567C>A	ENST00000360870.5	-	46	10782	c.10560G>T	c.(10558-10560)ccG>ccT	p.P3520P	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3519	Ig-like 21.						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)			TAAAAACAACCGGTTCACCCT	0.378000													14	48					1.5842e-08	1.59818e-08	1	1	0
ANK2	287	broad.mit.edu	37	4	114195792	114195792	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:114195792C>T	ENST00000357077.4	+	15	1723	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ANK2_ENST00000264366.6_Missense_Mutation_p.S557F|ANK2_ENST00000394537.3_Missense_Mutation_p.S557F|ANK2_ENST00000506722.1_Missense_Mutation_p.S536F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	557					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGCCCACTCCTTAGCTACC	0.522000													11	29					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481623	95481623	+	RNA	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:95481623T>A	ENST00000432432.2	-	0	1737					NR_040113.1																						GTCCTTAAGATATTTATTTTC	0.313000													13	44					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124573	103124573	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:103124573C>T	ENST00000295269.4	+	5	1691	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	412					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TAACCAGTTTCGGACTTTCCC	0.448000													37	67					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887741	111887741	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:111887741G>A	ENST00000305815.5	-	25	3472	c.3220C>T	c.(3220-3222)Cct>Tct	p.P1074S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P1026S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1074					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CATGTTATAGGAATTAAGAAA	0.318000													12	54					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564709	99564709	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99564709G>A	ENST00000292401.4	-	4	950	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	272	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTGTCCTGCGGGGGCACTGCC	0.652000													17	62					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944314	55944314	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:55944314C>T	ENST00000312298.1	+	1	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTGCTATTCATCTGCAATT	0.443000													30	72					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533832	31533832	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:31533832C>T	ENST00000215885.3	-	4	1182	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	310					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GTGGTGGCCCCTTCCGAAGGT	0.647000													69	131					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174006	63174006	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63174006C>T	ENST00000279178.3	+	7	1360	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	371					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTAATCTCCATGTCCAGCA	0.418000													21	83					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562578	125562578	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125562578C>T	ENST00000277309.2	+	1	209	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	59					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						TTCATGCACCCATGTACTTCC	0.572000													16	50					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856917	144856917	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:144856917G>A	ENST00000369359.4	-	43	7014	c.6976C>T	c.(6976-6978)Cta>Tta	p.L2326L	PDE4DIP_ENST00000530740.1_Silent_p.L2275L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.L2084L|PDE4DIP_ENST00000369354.3_Silent_p.L2190L|PDE4DIP_ENST00000369356.4_Silent_p.L2190L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2190					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGTCTTAGGGCACTGTAG	0.527000			T	PDGFRB	MPD								8	32					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10215368	10215368	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10215368A>G	ENST00000418404.3	-	31	4554	c.4391T>C	c.(4390-4392)cTg>cCg	p.L1464P	MYH13_ENST00000252172.4_Missense_Mutation_p.L1464P|MYH13_ENST00000570743.1_Missense_Mutation_p.L1464P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1464					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						GCTTTCGTCCAGCTTTTGCTT	0.527000													14	26					0	0	1	0	0
IL11	3589	broad.mit.edu	37	19	55877452	55877452	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55877452G>T	ENST00000264563.2	-	5	585	c.523C>A	c.(523-525)Cac>Aac	p.H175N	IL11_ENST00000585513.1_Missense_Mutation_p.H175N|IL11_ENST00000590625.1_Missense_Mutation_p.H96N	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	175				H -> L (in Ref. 5; AAH12506).	B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	AGGATGGCGTGGGCGGCCCTG	0.751000													4	10					0.00909568	0.00909568	1	1	0
TACC2	10579	broad.mit.edu	37	10	123847992	123847992	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:123847992G>A	ENST00000369005.1	+	5	5799		c.e5-1		TACC2_ENST00000453444.2_Splice_Site|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Splice_Site|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Splice_Site|TACC2_ENST00000334433.3_Splice_Site	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2							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)				TATTATCCCAGAGAGAGCCCC	0.413000													4	7					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427830	119427830	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:119427830G>A	ENST00000369429.3	-	8	1343	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	TBX15_ENST00000207157.3_Missense_Mutation_p.S339F			Q96SF7	TBX15_HUMAN	T-box 15	445						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGAGATCAGGGATGGAGTCCT	0.567000													38	28					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119426349	119426349	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:119426349C>T	ENST00000273390.5	+	3	377	c.300C>T	c.(298-300)atC>atT	p.I100I	MAATS1_ENST00000463700.1_Silent_p.I100I	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CACCATTTATCAGTCGGGAAT	0.453000													14	24					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846596	98846596	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:98846596C>T	ENST00000477737.1	+	16	2438	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	745								p.S745L(1)		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						ACACAAACTTCATCTCTGAAT	0.393000													9	30					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017764	17017764	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:17017764C>T	ENST00000443236.1	-	30	4197	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1342						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACCTACCTCGCATGATGGC	0.602000													6	9					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004366	187004366	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:187004366C>T	ENST00000296795.2	+	4	1630	c.1526C>T	c.(1525-1527)aCc>aTc	p.T509I	TLR3_ENST00000504367.1_Missense_Mutation_p.T232I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	509					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)		CGTAACTTGACCATTCTGGAT	0.438000													36	67					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15537946	15537946	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:15537946G>T	ENST00000389282.4	-	6	3712	c.3499C>A	c.(3499-3501)Ctg>Atg	p.L1167M	WIZ_ENST00000599910.1_Missense_Mutation_p.L484M|WIZ_ENST00000599686.2_Missense_Mutation_p.L351M|WIZ_ENST00000545156.1_Missense_Mutation_p.L481M|WIZ_ENST00000263381.6_Missense_Mutation_p.L310M			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1167	Pro-rich.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGTGCAGCCAGGCCTGGGAAC	0.632000													15	27					4.7546e-09	4.80126e-09	1	1	0
IFNA21	3452	broad.mit.edu	37	9	21166381	21166381	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:21166381G>A	ENST00000380225.1	-	1	278	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	77					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGGACAGAGATGGCTTGAG	0.488000													35	36					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28539080	28539080	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:28539080A>T	ENST00000381020.7	-	2	2746	c.614T>A	c.(613-615)tTt>tAt	p.F205Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	205					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ACTGTAGTGAAACTCCTTCTC	0.597000			T	ETV6	AML								7	22					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116112	175116112	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:175116112T>C	ENST00000239462.4	+	19	3918	c.3805T>C	c.(3805-3807)Tac>Cac	p.Y1269H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1269	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCATTCCTTACGTGGAGTT	0.522000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976060	121976060	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:121976060G>A	ENST00000498619.1	+	3	756	c.318G>A	c.(316-318)aaG>aaA	p.K106K	CASR_ENST00000490131.1_Silent_p.K106K|CASR_ENST00000296154.5_Silent_p.K106K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	106					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCGTTTCTAAGGCCTTGGAAG	0.448000													41	69					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:18891730C>T	ENST00000317658.3	+	1	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388000													10	38					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:107049684C>T	ENST00000409886.3	-	16	2350	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E755K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000													38	231					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27099930	27099930	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:27099930C>T	ENST00000350889.4	-	3	206	c.93G>A	c.(91-93)tcG>tcA	p.S31S	STMN4_ENST00000522908.1_Silent_p.S31S|STMN4_ENST00000519997.1_Silent_p.S22S|STMN4_ENST00000519614.1_Silent_p.S31S|STMN4_ENST00000265770.7_Silent_p.S31S|STMN4_ENST00000523048.1_Silent_p.S31S	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	31					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATTTGTAGGACGACTTATTCA	0.587000													10	67					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791341	41791341	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:41791341G>A	ENST00000396930.3	-	18	4940	c.4397C>T	c.(4396-4398)cCt>cTt	p.P1466L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P1466L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1466L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1466					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGACATCTGAGGGTCCTCGTC	0.552000													33	86					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53156080	53156080	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:53156080C>T	ENST00000376352.2	+	15	1546	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	STXBP4_ENST00000434978.2_Missense_Mutation_p.P425S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	447						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TAATTCTACTCCTTTATCAAA	0.289000													6	31					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207023	148207023	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:148207023T>C	ENST00000305988.4	+	1	868	c.629T>C	c.(628-630)gTt>gCt	p.V210A		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	210					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCCTTCTACGTTCCCCTGGTG	0.527000													58	116					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085349	10085349	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:10085349C>T	ENST00000380861.4	+	11	1641	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	WWC3_ENST00000454666.1_Missense_Mutation_p.P417L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	417	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GACCTCATTCCCTTCGACTCT	0.652000													26	31					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91727471	91727471	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:91727471C>T	ENST00000375835.4	-	2	851	c.545_splice	c.e2+1	p.R182_splice	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	182	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGGGCTTACCTGGTAATTTG	0.428000													10	42					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122216474	122216474	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:122216474G>A	ENST00000263710.4	-	13	1645	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	CLASP1_ENST00000541377.1_Missense_Mutation_p.P419L|CLASP1_ENST00000541859.1_Missense_Mutation_p.P188L|CLASP1_ENST00000455322.2_Missense_Mutation_p.P419L|CLASP1_ENST00000545861.1_Missense_Mutation_p.P187L|CLASP1_ENST00000397587.3_Missense_Mutation_p.P419L|CLASP1_ENST00000409078.3_Missense_Mutation_p.P419L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	419					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGCACTGTTTGGAATTAAATT	0.383000													27	74					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351610	79351610	+	Missense_Mutation	SNP	A	A	G	rs144319149		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:79351610A>G	ENST00000350881.2	+	3	485	c.295A>G	c.(295-297)Atc>Gtc	p.I99V	THBS4_ENST00000511733.1_Missense_Mutation_p.I8V|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	99	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCTTCCAGCCATCCTCCGTTA	0.542000													80	196					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514098	151514098	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:151514098G>A	ENST00000370314.4	-	3	455	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GABRA3_ENST00000370311.1_Missense_Mutation_p.R73C|GABRA3_ENST00000535043.1_Missense_Mutation_p.R73C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	73					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCAGAAGACGATCCAAGATT	0.473000													22	13					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841696	230841696	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:230841696C>T	ENST00000366667.4	-	3	1321	c.1107G>A	c.(1105-1107)atG>atA	p.M369I		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ATAGTTTCTTCATCCAGTTGA	0.607000													77	99					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363717	55363717	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55363717C>T	ENST00000326321.3	+	3	368	c.335C>T	c.(334-336)cCc>cTc	p.P112L	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P112L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	112					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			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)		CCCAGCAACCCCCTGGTGATC	0.607000													22	43					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011986	108011986	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108011986C>T	ENST00000280758.5	+	10	2811	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.I761I|BTBD11_ENST00000357167.4_Silent_p.I298I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	761						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAGTGATATCCTGTCCCTGG	0.587000													17	44					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998581	56998581	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:56998581G>A	ENST00000179765.5	-	16	2860	c.2661C>T	c.(2659-2661)tcC>tcT	p.S887S	BAZ2A_ENST00000549884.1_Silent_p.S917S|BAZ2A_ENST00000551812.1_Silent_p.S919S|BAZ2A_ENST00000379441.3_Silent_p.S889S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	919	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGATCTTTAGGGACTGTGTGG	0.488000													5	13					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131926539	131926539	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:131926539G>A	ENST00000403834.3	-	14	1645	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	MED23_ENST00000368053.4_Missense_Mutation_p.S491L|MED23_ENST00000368068.3_Missense_Mutation_p.S485L|MED23_ENST00000354577.4_Missense_Mutation_p.S491L|MED23_ENST00000545957.1_Missense_Mutation_p.S126L|MED23_ENST00000539158.1_Intron|MED23_ENST00000540546.1_Missense_Mutation_p.S491L|MED23_ENST00000368060.3_Missense_Mutation_p.S485L|MED23_ENST00000368058.1_Missense_Mutation_p.S491L			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	485					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAAACATTCTGAATTTGTAGA	0.363000													4	14					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128858011	128858011	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:128858011A>G	ENST00000310343.9	-	12	1162	c.1163T>C	c.(1162-1164)gTt>gCt	p.V388A	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V39A|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V314A|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V39A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	388	Rho-GAP.				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						GCTTTGAAGAACCTGCGGCAC	0.383000													15	18					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46705721	46705721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:46705721G>A	ENST00000299138.7	-	12	1478	c.1420C>T	c.(1420-1422)Caa>Taa	p.Q474*		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	474					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTACAGGTTGATCTGGCTGA	0.488000													15	17					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535910	10535910	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10535910G>A	ENST00000583535.1	-	34	4926	c.4839C>T	c.(4837-4839)atC>atT	p.I1613I	MYH3_ENST00000226209.7_Silent_p.I1613I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1613					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						TCTTGAGCCGGATGGCTTCAT	0.582000													89	210					0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4333717	4333717	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:4333717G>A	ENST00000600324.1	-	3	338	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	STAP2_ENST00000594605.1_Missense_Mutation_p.L91F	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	91	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCCCGGAGAATCAGGCTG	0.552000													12	36					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626849	122626849	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:122626849G>A	ENST00000303924.4	-	4	1696	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	387						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423000													32	122					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538544	152538544	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152538544G>A	ENST00000368789.1	-	2	196	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	47					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCCTCGGAGCTAGGGCCAC	0.662000													18	79					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706345	123706345	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:123706345G>A	ENST00000606320.1	-	5	652	c.446C>T	c.(445-447)tCg>tTg	p.S149L	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S119L|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_5'UTR|MPHOSPH9_ENST00000392425.3_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	0					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)		TTGACTTTCCGAAGATACTTG	0.358000													12	30					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243841	43243841	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:43243841C>T	ENST00000255226.6	+	11	2259	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	SLC14A2_ENST00000586448.1_Silent_p.I481I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	481						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.I481I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTCACATCGAGTGGTCAT	0.582000													9	12					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154193	22154193	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:22154193G>A	ENST00000397126.4	-	4	3791	c.3643C>T	c.(3643-3645)Cac>Tac	p.H1215Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTGTGATATCTAAGG	0.378000													10	16					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166974561C>T	ENST00000367872.4	+	8	1016	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	MAEL_ENST00000367870.2_Missense_Mutation_p.L227F|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000													17	21					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914376	215914376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:215914376G>A	ENST00000272895.7	-	6	886	c.667C>T	c.(667-669)Caa>Taa	p.Q223*		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	223					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAGTTCTTGGAGAGAAGAC	0.388000													8	27					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170846538	170846538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:170846538G>A	ENST00000436636.2	-	16	2082	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R551*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R551*|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R580*|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R551*|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	580	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGGGTGTTCGAGCAGGCTGA	0.517000													9	18					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319241	31319241	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:31319241C>T	ENST00000269197.5	+	11	1873	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	625	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGTACCAGCCTGCCTTCTCC	0.483000													4	21					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517071	158517071	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158517071G>A	ENST00000302617.3	-	1	824	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCACTTTGTTGGAATTGTAGG	0.463000													28	121					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306257	52306257	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:52306257C>T	ENST00000550683.1	+	1	142	c.41C>T	c.(40-42)aCc>aTc	p.T14I	ACVRL1_ENST00000419526.2_Missense_Mutation_p.T14I|ACVRL1_ENST00000388922.4_5'UTR	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	0					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TCTGCAGGGACCATGACCTTG	0.577000													7	16					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117412	58117412	+	Silent	SNP	C	C	T	rs143267609	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:58117412C>T	ENST00000332854.6	+	3	739	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGGGGAAGTCGGGAGGGACT	0.502000													13	51					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872604	136872604	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:136872604G>A	ENST00000409817.1	-	1	1209	c.906C>T	c.(904-906)aaC>aaT	p.N302N	CXCR4_ENST00000241393.3_Silent_p.N298N|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	298					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGAGGATGGGGTTCAGACAAC	0.507000													18	39					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781200	135781200	+	Missense_Mutation	SNP	G	G	A	rs118203575		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135781200G>A	ENST00000298552.3	-	15	1986	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	TSC1_ENST00000545250.1_Missense_Mutation_p.P538S|TSC1_ENST00000440111.2_Missense_Mutation_p.P589S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	589			CKIP -> S (in TSC1).		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCGGAGGTGGAATTTTACAA	0.537000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	27					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367518	142367518	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:142367518G>A	ENST00000377741.3	-	2	596	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	169						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGCGCACACGGCCCTGGCACA	0.706000													4	9					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506241	64506241	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:64506241C>T	ENST00000303052.7	-	6	950	c.527G>A	c.(526-528)gGc>gAc	p.G176D	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.G176D|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.G176D|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.G158D	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	176	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTCTTATTGCCTTGTCGACC	0.403000													29	77					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054447	29054447	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29054447C>T	ENST00000377173.2	-	1	643	c.579G>A	c.(577-579)aaG>aaA	p.K193K		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCTCAATAGGCTTTGTGTCAG	0.443000													35	36					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747090	26747090	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:26747090G>A	ENST00000529632.2	+	12	2676	c.2480G>A	c.(2479-2481)gGg>gAg	p.G827E	SEZ6L_ENST00000403121.1_Missense_Mutation_p.G600E|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G827E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G600E|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G24E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G827E|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G827E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	827	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCTGGTGGGGACCACCATC	0.552000													15	43					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216014	103216014	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103216014G>A	ENST00000424685.2	-	29	4443	c.4284C>T	c.(4282-4284)ttC>ttT	p.F1428F	RELN_ENST00000343529.5_Silent_p.F1428F|RELN_ENST00000428762.1_Silent_p.F1428F			P78509	RELN_HUMAN	reelin	1428	EGF-like 3.				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)		CCAGGTCACAGAAACACACTC	0.428000													20	37					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170693	90170693	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:90170693G>A	ENST00000333209.3	-	2	1087	c.569C>T	c.(568-570)cCt>cTt	p.P190L		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	190										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTGGAGAAGGAAACTCACA	0.522000													26	45					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488624	150488624	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:150488624G>A	ENST00000447204.2	-	7	1180	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	TMEM176B_ENST00000326442.5_Silent_p.L270L|TMEM176B_ENST00000429904.2_Silent_p.L270L|TMEM176B_ENST00000492607.1_Silent_p.L270L|TMEM176B_ENST00000434545.1_Silent_p.L270L|TMEM176B_ENST00000450753.2_Silent_p.L233L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	270					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTCACAGGACAATGGCA	0.607000													5	33					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404515	9404515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9404515C>T	ENST00000378501.2	+	24	2419	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R802*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R802*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R814*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R814*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R802*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	802					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						CATTTCCCTTCGAAATGAGGG	0.403000													14	16					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125316085G>A	ENST00000373688.2	+	1	695	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517000													40	124					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123542639	123542639	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:123542639C>T	ENST00000334268.4	-	39	2336	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	TRDN_ENST00000398178.3_Silent_p.K681K			Q13061	TRDN_HUMAN	triadin	681					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TACTTTTCTGCTTTGTGGGAG	0.264000													5	11					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017173	109017173	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:109017173G>A	ENST00000388962.3	-	3	1040	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SELPLG_ENST00000228463.6_Missense_Mutation_p.S320F|SELPLG_ENST00000550948.1_Missense_Mutation_p.S304F	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	304					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTAGTTGACGGACAAATTGCT	0.542000													11	30					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319327	56319327	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56319327A>C	ENST00000443188.1	-	6	2605	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	NLRP11_ENST00000592953.1_Missense_Mutation_p.M533R|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000589093.1_Missense_Mutation_p.M632R|NLRP11_ENST00000360133.3_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	632							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)		GAGGCTCTCCATTGTATAAAA	0.408000													37	56					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676891	73676891	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:73676891C>T	ENST00000264448.6	+	8	3345	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F	ALMS1_ENST00000409009.1_Silent_p.F1036F|ALMS1_ENST00000377715.1_Silent_p.F1078F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1078	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTCAGCCTTCCCTGGACCAG	0.478000													37	95					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44596943	44596943	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:44596943G>A	ENST00000322927.2	-	4	601	c.501C>T	c.(499-501)atC>atT	p.I167I	ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCCCTGTAGGATCAGGTACC	0.637000													46	121					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526232	70526232	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:70526232G>A	ENST00000327305.6	-	4	955	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	NETO1_ENST00000397929.1_Missense_Mutation_p.H99Y|NETO1_ENST00000583169.1_Missense_Mutation_p.H100Y|NETO1_ENST00000299430.2_Missense_Mutation_p.H99Y|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	100	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACTTCAATATGATCAAATTTG	0.388000													18	41					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997869	115997869	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:115997869C>T	ENST00000264363.2	-	2	1002	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	108	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGCAATAACCATGTGGTACT	0.408000													11	28					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740721	110740721	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:110740721C>T	ENST00000331565.4	+	12	2324	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	613					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCTGTATTTCCCCAACTGGG	0.652000													23	15					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76872114	76872114	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:76872114C>T	ENST00000409709.3	+	12	1568	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	MYO7A_ENST00000409619.2_Silent_p.S421S|MYO7A_ENST00000409893.1_Silent_p.S432S|MYO7A_ENST00000458637.2_Silent_p.S432S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	432	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCGCAGGTCCATCGGCCTCC	0.522000													16	22					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910029	2910029	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:2910029C>T	ENST00000520002.1	-	51	8173	c.7618G>A	c.(7618-7620)Gaa>Aaa	p.E2540K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E2540K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2539K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2540K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2540K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2539K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2540	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCCATCTTCTTGACACACG	0.502000													5	9					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947346	7947346	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:7947346G>A	ENST00000229307.4	+	4	792	c.573G>A	c.(571-573)ggG>ggA	p.G191G	NANOG_ENST00000526286.1_Silent_p.G175G	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	191					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCCGACTGGGAACCTTCCAA	0.532000													5	16					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17946846	17946846	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:17946846C>T	ENST00000458235.1	-	14	1900	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	JAK3_ENST00000534444.1_Missense_Mutation_p.E601K|JAK3_ENST00000527670.1_Missense_Mutation_p.E601K	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	601	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTACAAATTCCTGCACCATG	0.592000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								25	52					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073594	73073594	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:73073594C>T	ENST00000263674.3	+	14	5161	c.4811C>T	c.(4810-4812)cCg>cTg	p.P1604L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1604					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCGGGGCCGCAGCCCTGC	0.716000													3	34					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354837	122354837	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122354837C>T	ENST00000483793.1	+	9	1382	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S	PARP15_ENST00000464300.2_Missense_Mutation_p.P643S|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.P340S|PARP15_ENST00000310366.4_Missense_Mutation_p.P409S			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			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)		TCCTCACAATCCCACAGATCT	0.433000													13	33					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572722	169572722	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:169572722G>A	ENST00000316428.5	-	6	927	c.870C>T	c.(868-870)tcC>tcT	p.S290S	LRRC31_ENST00000264676.5_Silent_p.S234S|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.S290S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	290										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTTATTGCAGGAAAGATCTA	0.448000													13	55					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975964	94975964	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:94975964G>A	ENST00000261226.4	-	2	560	c.429C>T	c.(427-429)atC>atT	p.I143I	TMCC3_ENST00000551457.1_Silent_p.I112I	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	143						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CATTCTGCTCGATCTCTCTGA	0.458000													25	49					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34712526	34712526	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:34712526C>T	ENST00000544216.3	+	9	1328	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	LSM14A_ENST00000433627.5_Silent_p.F417F|LSM14A_ENST00000540746.2_Silent_p.F376F	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	417					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTCTTGGTTTCCGTGGTGGCA	0.577000													18	37					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434109	9434109	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9434109G>A	ENST00000378501.2	+	29	2975	c.2960_splice	c.e29+1	p.G987_splice	PLCB4_ENST00000378493.1_Splice_Site_p.G987_splice|PLCB4_ENST00000278655.4_Splice_Site_p.G987_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Splice_Site_p.G999_splice|PLCB4_ENST00000414679.2_Splice_Site_p.G999_splice|PLCB4_ENST00000334005.3_Splice_Site_p.G987_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	987					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						AAGAAGAAGGGGTAATACTGT	0.383000													9	28					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60926965	60926965	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:60926965C>T	ENST00000252999.3	-	5	924	c.858_splice	c.e5+1	p.R286_splice	LAMA5_ENST00000370692.3_Splice_Site_p.R286_splice|LAMA5_ENST00000370677.3_Splice_Site_p.R286_splice	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	286	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGCTCACCCGGCGGGTGA	0.726000													4	5					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992641	66992641	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:66992641G>A	ENST00000276570.5	+	5	650	c.363G>A	c.(361-363)acG>acA	p.T121T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	121					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GCCTCTTGACGGgctgctact	0.552000													21	60					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16591433	16591433	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:16591433C>T	ENST00000269881.3	-	8	1065	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	335	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ACCTTGGTTTCGCCCCAGGTG	0.393000													14	16					0	0	1	0	0
NADK2	133686	broad.mit.edu	37	5	36217967	36217967	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:36217967T>A	ENST00000397338.1	-	6	396	c.175A>T	c.(175-177)Atc>Ttc	p.I59F	NADK2_ENST00000381937.4_Missense_Mutation_p.I222F|NADK2_ENST00000282512.3_Missense_Mutation_p.I59F|NADK2_ENST00000514504.1_Missense_Mutation_p.I222F|NADK2_ENST00000506945.1_Missense_Mutation_p.I59F					NAD kinase 2, mitochondrial																		TATAACCTGATTCTCTGCCTC	0.363000													25	47					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183853	60183853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:60183853G>A	ENST00000300187.6	+	5	1689	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.W454*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.W504*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.W359*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	471	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACCAAAGAATGGAAATCTGAG	0.378000													12	44					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234344552	234344552	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:234344552C>T	ENST00000264057.2	+	6	687	c.675C>T	c.(673-675)atC>atT	p.I225I	DGKD_ENST00000409813.3_Silent_p.I181I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	225					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGAAGGACATCATTGAAGATG	0.567000													15	36					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100834	184100834	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184100834C>T	ENST00000204604.1	+	10	1342	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L366L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.L366L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	366	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCCCAACCTGACAGTCCA	0.632000													8	17					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166905848	166905848	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:166905848G>A	ENST00000271417.3	-	5	738	c.683C>T	c.(682-684)tCc>tTc	p.S228F	ILDR2_ENST00000528703.1_Missense_Mutation_p.S228F|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.S209F|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S228F|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	228	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCAGCAGCAGGAATCTGGGCA	0.602000													9	32					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12543207	12543207	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:12543207G>A	ENST00000301547.5	-	3	372	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	59	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TTTTTCCTGGGATATCTATAT	0.299000													5	25					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101436167	101436167	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:101436167G>A	ENST00000392979.3	+	11	1331	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	ANO4_ENST00000392977.3_Missense_Mutation_p.G359S|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	359						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						CTGGTACACCGGCATGCTCTT	0.488000										HNSCC(74;0.22)			14	26					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86852605	86852605	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:86852605G>A	ENST00000359242.3	-	2	387	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	ODF2L_ENST00000486215.1_Missense_Mutation_p.L36F|ODF2L_ENST00000370567.1_Missense_Mutation_p.L36F|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.L36F|ODF2L_ENST00000317336.7_Missense_Mutation_p.L36F|ODF2L_ENST00000478286.2_Missense_Mutation_p.L36F|ODF2L_ENST00000370566.3_Missense_Mutation_p.L36F	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	36						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TACCAGCTGAGATGACTTTCA	0.343000													31	35					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159112	23159112	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:23159112C>T	ENST00000594710.1	-	4	1172	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CCACATTCTTCACATTTGCAG	0.408000													8	26					0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49730104	49730104	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:49730104G>A	ENST00000334221.3	-	1	867	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	53	Collagen-like.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCGCCTGGCGGGAAGGGGGGC	0.746000													4	3					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137588738	137588738	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:137588738G>A	ENST00000274721.3	-	8	1368	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	GFRA3_ENST00000378362.3_Silent_p.N343N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	374					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCACAGCAGGGTTTTCATTCT	0.542000													5	15					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265656	3265656	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:3265656G>A	ENST00000576468.1	+	0	418																											CCTCCTCTTGGGACTCTCCAG	0.537000													11	29					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280576	105280576	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:105280576G>A	ENST00000327674.4	-	1	809	c.474C>T	c.(472-474)gtC>gtT	p.V158V	SERPINA7_ENST00000372563.1_Silent_p.V158V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGTAGAAAAGACTTCAGTCT	0.438000													51	27					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686680	78686680	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:78686680G>A	ENST00000545128.1	+	7	1298	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E254K|PCSK5_ENST00000376767.3_Missense_Mutation_p.E254K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	254	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACATGGTTGAAGCAAAATC	0.532000													38	108					0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213134570	213134570	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:213134570G>A	ENST00000366968.4	+	4	494	c.144G>A	c.(142-144)gcG>gcA	p.A48A	VASH2_ENST00000366967.2_Silent_p.A9A|VASH2_ENST00000517399.1_Silent_p.A113A|VASH2_ENST00000366965.2_Silent_p.A113A|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366966.2_Silent_p.A48A	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	113					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GGCTCCAGGCGATCCAGAATT	0.522000													35	122					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127854	117127854	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:117127854G>A	ENST00000310357.3	-	3	1035	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.S338S	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)		TTTGAAGAAAGGAATGGAAAG	0.408000													16	55					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121340728	121340728	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:121340728G>A	ENST00000260197.7	+	2	427	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	100					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)		TAGTCTGAATGATTCCCACAA	0.498000													15	21					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267471	48267471	+	Silent	SNP	G	G	A	rs138713871	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:48267471G>A	ENST00000302329.3	+	1	864	c.816G>A	c.(814-816)gcG>gcA	p.A272A		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGATAACCGCGATCCTGAACC	0.473000													23	42					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428288	128428288	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:128428288G>A	ENST00000465342.2	+	2	1334	c.177G>A	c.(175-177)ggG>ggA	p.G59G	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G59G|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGGTGTGGGGGATTCCCCCTT	0.662000													4	15					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714206	80714206	+	Silent	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:80714206A>G	ENST00000458043.2	+	33	3786	c.3780A>G	c.(3778-3780)ttA>ttG	p.L1260L	OTOGL_ENST00000547103.1_Silent_p.L1260L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTACAGCATTAGCACTTGTTT	0.398000													13	38					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712540	41712540	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:41712540G>A	ENST00000373025.3	-	2	128	c.66C>T	c.(64-66)ccC>ccT	p.P22P	PGC_ENST00000425343.2_Silent_p.P22P	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	22					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ATTTCTTCAGGGGCACTCTAC	0.507000													10	30					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68867355	68867355	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:68867355C>T	ENST00000261769.5	+	16	2793	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	CDH1_ENST00000422392.2_Missense_Mutation_p.R807C|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	868	Required for binding alpha, beta and gamma catenins.			R -> P (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATGGGGCAATCGCTTCAAGAA	0.552000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				21	62					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347555	65347555	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:65347555G>A	ENST00000220062.4	-	5	759	c.483C>T	c.(481-483)ttC>ttT	p.F161F	RASL12_ENST00000421977.3_Silent_p.F142F|RASL12_ENST00000434605.2_Silent_p.F150F	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	161					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CAGAGACCTCGAAAAACAGGC	0.617000													7	9					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3495009	3495009	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:3495009G>A	ENST00000340083.5	+	7	1361	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	DOK7_ENST00000389653.2_Silent_p.R432R|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	432					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTGCGGCCAGGGACTCAGGCG	0.721000													11	19					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123556451	123556451	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:123556451G>A	ENST00000422452.2	-	24	4205	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.P1374L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATTGTCCATAGGATTTACTGC	0.443000													42	28					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088152	94088152	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:94088152C>T	ENST00000553484.1	+	31	4793	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W	UNC79_ENST00000555664.1_Missense_Mutation_p.R1525W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1348W|UNC79_ENST00000393151.2_Missense_Mutation_p.R1525W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1525						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						GTGCATAGATCGGTGTGACAT	0.453000													19	48					0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583506	80583506	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:80583506C>T	ENST00000305904.6	+	3	325	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.L98F	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	69					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						CCTGACTTTTCTTAGGATCAG	0.373000													13	47					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36294431	36294431	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:36294431T>C	ENST00000437635.2	-	5	1069	c.892A>G	c.(892-894)Aag>Gag	p.K298E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	298										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGTTTGTCTTTGAGGTTCTC	0.567000													95	131					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360139	182360139	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182360139C>T	ENST00000397033.2	+	13	1811	c.1381C>T	c.(1381-1383)Cta>Tta	p.L461L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	461					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCTGTCTTGCTAAGGTAAGA	0.353000													14	60					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228903	142228903	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:142228903C>T	ENST00000519067.1	-	4	986	c.683G>A	c.(682-684)gGc>gAc	p.G228D	SLC45A4_ENST00000517878.1_Missense_Mutation_p.G279D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G221D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G228D			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	279					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCAGGGACGCCGTGCGGCTC	0.677000													50	160					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162289	33162289	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:33162289G>A	ENST00000510327.1	-	0	346																											CGAGCGATGGGCATCTCTCGG	0.502000													9	33					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702013	179702013	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179702013G>A	ENST00000420890.2	-	23	4050	c.3933C>T	c.(3931-3933)gcC>gcT	p.A1311A	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.A736A	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	736							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGTGTAAGGCAGTACTCT	0.468000													9	44					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071620	25071620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:25071620C>T	ENST00000533227.1	+	10	831	c.544C>T	c.(544-546)Caa>Taa	p.Q182*	LUZP2_ENST00000336930.6_Nonsense_Mutation_p.Q268*	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	268	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGAGCTCTCAAGTTGAGTC	0.363000													11	37					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767602	73767602	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:73767602C>T	ENST00000373115.4	+	3	1250	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	271					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						AGCACATGGCCCTCAAGGCGG	0.697000													5	11					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													3	5					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19653748	19653748	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19653748C>T	ENST00000586018.1	+	6	1064	c.962C>T	c.(961-963)gCc>gTc	p.A321V	CILP2_ENST00000291495.4_Missense_Mutation_p.A315V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	315	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCTGCAAAGCCTCCGGGACC	0.562000													32	66					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	G	A	rs142855444		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:121774692G>A	ENST00000264808.3	-	3	421	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_ENST00000428209.2_Missense_Mutation_p.R61C|PRDM5_ENST00000394435.2_Missense_Mutation_p.R61C|PRDM5_ENST00000515109.1_Missense_Mutation_p.R61C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	61	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000													59	165					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308453	205308453	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:205308453G>A	ENST00000367156.3	-	7	1442	c.626C>T	c.(625-627)cCc>cTc	p.P209L	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.P96L|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.P209L|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.P209L|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.P75L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	209										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCGCTTATAGGGAATGTTGGG	0.592000													18	20					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036926	39036926	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:39036926C>T	ENST00000167588.3	-	3	611	c.570G>A	c.(568-570)ttG>ttA	p.L190L		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	190	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTTGAATCTCCAAATCTGTTT	0.398000													37	41					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623164	119623164	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:119623164C>T	ENST00000368468.3	-	4	1246	c.805G>A	c.(805-807)Gat>Aat	p.D269N	MAN1A1_ENST00000368466.2_Missense_Mutation_p.D292N	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	269					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACATTAAAATCTAAATTTTCT	0.294000													4	8					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888285	191888285	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:191888285G>A	ENST00000454309.2	-	4	1400	c.575C>T	c.(574-576)aCc>aTc	p.T192I	FGF12_ENST00000450716.1_Missense_Mutation_p.T130I|FGF12_ENST00000445105.1_Missense_Mutation_p.T130I|FGF12_ENST00000430714.1_Missense_Mutation_p.T93I|FGF12_ENST00000264730.3_Missense_Mutation_p.T130I	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	192					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAGGGCTTGGTTTTCTTCAC	0.428000													36	70					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144918153	144918153	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:144918153G>A	ENST00000442628.2	-	16	1504	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	NRBP2_ENST00000327830.5_Silent_p.T212T	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	455					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGGTCGTAGGTCAGCTGCC	0.716000													5	25					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510277	4510277	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4510277C>T	ENST00000307632.3	+	1	169	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCTTCTCTTCATTATCCAGG	0.498000													34	78					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62355784	62355784	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:62355784C>T	ENST00000283268.3	-	5	1648	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	FEZF2_ENST00000475839.1_Missense_Mutation_p.D452N|FEZF2_ENST00000486811.1_Missense_Mutation_p.D452N	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	452					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTAGTCAGGTCCTTTGCGGAG	0.512000													14	30					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538089	113538089	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:113538089G>A	ENST00000416899.2	+	9	1332	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	MUSK_ENST00000189978.5_Silent_p.K402K|MUSK_ENST00000374448.4_Silent_p.K402K|MUSK_ENST00000374438.1_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	402	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGGCAGTAAAGGAGCTCTTCT	0.428000													19	29					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:60970872C>T	ENST00000335670.6	-	2	280	c.180G>A	c.(178-180)acG>acA	p.T60T	RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000													15	45					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950455	68950455	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:68950455C>T	ENST00000288368.4	+	7	1044	c.767C>T	c.(766-768)tCt>tTt	p.S256F	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	256	PH.				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						CTGAAAATTTCTTCTGGAAAT	0.393000													10	42					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408602	105408602	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:105408602G>A	ENST00000333244.5	-	7	13305	c.13186C>T	c.(13186-13188)Ctc>Ttc	p.L4396F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4396						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)			GGACCCTTGAGGTCCACTTTG	0.597000													47	88					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663297	13663297	+	Silent	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:13663297T>G	ENST00000404922.3	+	9	2297	c.2178T>G	c.(2176-2178)ggT>ggG	p.G726G	FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Silent_p.G726G|FBLN2_ENST00000295760.7_Intron	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	726	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCTGATGGGTGCTCACGATT	0.552000													16	43					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888090	97888090	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97888090C>T	ENST00000356526.2	+	1	547	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGACACTATCCCATTGTCTAA	0.313000													7	11					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866390	110866390	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:110866390C>T	ENST00000265171.5	+	5	1344	c.899C>T	c.(898-900)cCa>cTa	p.P300L	EGF_ENST00000503392.1_Missense_Mutation_p.P300L|EGF_ENST00000509793.1_Missense_Mutation_p.P300L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	300					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTAGTGCATCCACTTGCACAA	0.473000													9	17					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125434439	125434439	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:125434439G>A	ENST00000284674.1	+	2	827	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	258					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCCTATGTGATCACCAGGT	0.577000													5	6					0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71064454	71064454	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:71064454G>A	ENST00000256379.5	-	2	92	c.63C>T	c.(61-63)atC>atT	p.I21I	MED6_ENST00000440435.2_Silent_p.I21I|MED6_ENST00000556044.1_5'UTR|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000554963.1_Silent_p.I21I|MED6_ENST00000430055.2_Silent_p.I21I	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	21					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCAAAATAGGGATCCAAGAGC	0.358000													13	37					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79787588	79787588	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:79787588C>T	ENST00000275034.4	-	2	250	c.83G>A	c.(82-84)tGt>tAt	p.C28Y		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	28					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CGCCTGCTGACAGGGTCCATC	0.786000													3	8					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721400	52721400	+	Splice_Site	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:52721400G>T	ENST00000394799.2	+	3	384		c.e3+1		GNL3_ENST00000460073.1_Splice_Site|GNL3_ENST00000418458.1_Splice_Site	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAACAGAGGGTAAGTTATGT	0.433000													32	70					2.75727e-19	2.80082e-19	1	1	0
KIAA1009	22832	broad.mit.edu	37	6	84859352	84859352	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:84859352G>A	ENST00000403245.3	-	24	3814	c.3700C>T	c.(3700-3702)Ctt>Ttt	p.L1234F	KIAA1009_ENST00000257766.4_Missense_Mutation_p.L1158F|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1234					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTGGCAAAGGAGTTTCTCT	0.373000													16	42					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918658	31918658	+	Missense_Mutation	SNP	G	G	A	rs143359144		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:31918658G>A	ENST00000396184.3	-	5	580	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	PDE1C_ENST00000396191.1_Missense_Mutation_p.R126W|PDE1C_ENST00000396193.1_Missense_Mutation_p.R186W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R126W|PDE1C_ENST00000396182.2_Missense_Mutation_p.R126W	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	126					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R126R(2)|p.R186R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTTGAACCGGGGCTTCTCG	0.532000													45	61					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26315398	26315398	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:26315398T>C	ENST00000265944.5	+	10	1056	c.890T>C	c.(889-891)cTa>cCa	p.L297P	MYO3A_ENST00000543632.1_Missense_Mutation_p.L297P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	297					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATGTGATGCTACAAAAACAA	0.383000													7	10					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447409	226447409	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:226447409C>T	ENST00000272907.6	+	4	1689	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	426	Pro-rich.																AACCCAGTCTCCCCATGGCTA	0.662000													6	13					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119426293	119426293	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:119426293C>T	ENST00000273390.5	+	3	321	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	MAATS1_ENST00000463700.1_Missense_Mutation_p.H82Y	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TAACCTGATCCATTATCCAAG	0.403000													7	29					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81554307	81554307	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:81554307G>A	ENST00000541158.2	+	5	649	c.327G>A	c.(325-327)cgG>cgA	p.R109R	TSHR_ENST00000554435.1_Silent_p.R109R|TSHR_ENST00000298171.2_Silent_p.R109R|TSHR_ENST00000342443.6_Silent_p.R109R|TSHR_ENST00000554263.1_Silent_p.R109R			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	109			R -> Q (in CHNG1).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GAGAAATTCGGAATACCAGGA	0.378000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	31					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59283138C>T	ENST00000329328.3	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000													81	150					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:41057250C>T	ENST00000399564.4	-	9	1330	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATTTCATTTTCCTTTACTGGA	0.403000													14	16					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423760	35423760	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:35423760G>A	ENST00000229769.2	+	2	670	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	162	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGATGCCAGAGACAGCTCCAA	0.612000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	33					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114394648	114394648	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:114394648C>T	ENST00000359785.5	-	10	964		c.e10+1		PTPN22_ENST00000538253.1_Splice_Site|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGTTCATACCTGCGTTTGA	0.408000													6	14					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90718362	90718362	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:90718362C>T	ENST00000257749.4	-	6	909	c.202G>A	c.(202-204)Gga>Aga	p.G68R	BACH2_ENST00000343122.3_Missense_Mutation_p.G68R|BACH2_ENST00000537989.1_Missense_Mutation_p.G68R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	68	BTB.					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)		TTTGTCTGTCCAACCAGCGCC	0.468000													28	54					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65474949	65474949	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:65474949C>T	ENST00000519389.1	+	16	2977	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F	HEPH_ENST00000441993.2_Missense_Mutation_p.S882F|HEPH_ENST00000374727.3_Missense_Mutation_p.S882F|HEPH_ENST00000343002.2_Missense_Mutation_p.S879F|HEPH_ENST00000336279.5_Missense_Mutation_p.S612F|HEPH_ENST00000419594.1_Missense_Mutation_p.S690F			Q9BQS7	HEPH_HUMAN	hephaestin	879	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTTGTGTTTCCTGGATCTAT	0.483000													16	8					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:77776234C>T	ENST00000521891.2	+	11	10732	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F	ZFHX4_ENST00000455469.2_Silent_p.F3383F|ZFHX4_ENST00000518282.1_Silent_p.F3402F|ZFHX4_ENST00000050961.6_Silent_p.F3379F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)			6	22					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964944	42964944	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:42964944G>A	ENST00000399770.2	+	2	420	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	140	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.V140V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACCGTGTAGTGATTTATACCA	0.368000													44	112					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431195	37431195	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:37431195C>T	ENST00000374660.1	+	7	1301	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S401L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S401L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	457						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						ACAAAAGAATCATCTACAAAA	0.378000													22	19					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447671	52447671	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:52447671C>T	ENST00000293471.6	+	6	1214	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	ZNF613_ENST00000391794.4_Missense_Mutation_p.P143S	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATGAACTTCCCCGAAGGTGG	0.393000													51	109					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629961	32629961	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32629961G>A	ENST00000399084.1	-	4	622	c.444C>T	c.(442-444)gtC>gtT	p.V148V	HLA-DQB1_ENST00000399082.3_Silent_p.V58V|HLA-DQB1_ENST00000399079.3_Silent_p.V148V|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.V148V|HLA-DQB1_ENST00000374943.4_Silent_p.V148V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	148	Beta-2.|Ig-like C1-type.		V -> I (in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03; dbSNP:rs1049100).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCACCGAGCAGACCAGCAGGT	0.552000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				10	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408644	105408644	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:105408644G>A	ENST00000333244.5	-	7	13263	c.13144C>T	c.(13144-13146)Ccg>Tcg	p.P4382S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4382						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)			TGCAGCTTCGGCAGGTGCCCT	0.597000													47	102					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760584	120760584	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:120760584G>A	ENST00000273666.6	+	4	596	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	STXBP5L_ENST00000497029.1_Missense_Mutation_p.E109K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E109K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E109K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E109K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	109					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGCCAACATGAAAGTGGTGC	0.368000													11	27					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562496	28562496	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:28562496G>A	ENST00000383768.2	+	9	986	c.798G>A	c.(796-798)acG>acA	p.T266T	ZCWPW2_ENST00000421010.1_Silent_p.T266T			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	266							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TCTGTGAGACGGAAGTTTTAC	0.368000													8	16					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838073	74838073	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:74838073C>T	ENST00000358399.3	+	7	737	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.S215F|GDA_ENST00000545168.1_Missense_Mutation_p.S141F	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	215					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCACGTTTTTCCCTCTCCTGC	0.393000													12	44					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160846563	160846563	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:160846563T>A	ENST00000326245.3	-	8	948	c.833A>T	c.(832-834)cAg>cTg	p.Q278L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	278					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCACACTGCTGGGGACTGGC	0.498000													67	68					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44130751	44130751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:44130751C>T	ENST00000395673.3	+	3	699	c.643C>T	c.(643-645)Cga>Tga	p.R215*	EXT2_ENST00000358681.4_Nonsense_Mutation_p.R182*|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Nonsense_Mutation_p.R182*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.R182*	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	182					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CAGGTGGGATCGAGGTACGAA	0.443000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				15	35					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934508	30934508	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:30934508G>A	ENST00000355537.3	+	2	186	c.39G>A	c.(37-39)gcG>gcA	p.A13A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	13					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)					TGTCTTCGGCGGAGCCGGAAG	0.607000													38	94					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409970	79409970	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:79409970C>T	ENST00000307745.7	+	9	1595	c.1595C>T	c.(1594-1596)cCg>cTg	p.P532L																								AAGGAAGCCCCGGCCGGCCCC	0.682000													19	24					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99056253	99056253	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:99056253G>C	ENST00000357310.1	+	6	1307	c.730G>C	c.(730-732)Gat>Cat	p.D244H	APAF1_ENST00000549007.1_Missense_Mutation_p.D244H|APAF1_ENST00000547045.1_Missense_Mutation_p.D244H|APAF1_ENST00000359972.2_Missense_Mutation_p.D233H|APAF1_ENST00000339433.3_Missense_Mutation_p.D244H|APAF1_ENST00000333991.1_Missense_Mutation_p.D244H|APAF1_ENST00000550527.1_Missense_Mutation_p.D233H|APAF1_ENST00000552268.1_Missense_Mutation_p.D244H|APAF1_ENST00000551964.1_Missense_Mutation_p.D244H	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	244	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GATCTTGGATGATGTTTGGGA	0.348000													20	36					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762671	24762671	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:24762671A>T	ENST00000376451.2	+	2	775	c.515A>T	c.(514-516)aAa>aTa	p.K172I	KIAA1217_ENST00000376462.1_Missense_Mutation_p.K374I|KIAA1217_ENST00000430453.2_Missense_Mutation_p.K375I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K454I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K172I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.K172I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K454I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.K172I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K454I			Q5T5P2	SKT_HUMAN	KIAA1217	454					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TACAGACAGAAATCAAGGAAA	0.493000													22	32					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265655	3265655	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:3265655G>A	ENST00000576468.1	+	0	418																											TCCTCCTCTTGGGACTCTCCA	0.537000													11	29					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202031	103202031	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103202031C>T	ENST00000424685.2	-	36	5636	c.5477G>A	c.(5476-5478)gGg>gAg	p.G1826E	RELN_ENST00000343529.5_Missense_Mutation_p.G1826E|RELN_ENST00000428762.1_Missense_Mutation_p.G1826E			P78509	RELN_HUMAN	reelin	1826					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)		ATTCAGATTCCCCCTCTCTGC	0.403000													18	66					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592078	38592078	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:38592078G>A	ENST00000413689.1	-	28	5978	c.5785C>T	c.(5785-5787)Cgt>Tgt	p.R1929C	SCN5A_ENST00000425664.1_Missense_Mutation_p.R1911C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1875C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1928C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1896C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1928C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1875C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1911C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1929C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1875C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1929	IQ.				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)	GCCTGCTGACGGAAGAGGAAG	0.627000													11	18					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180270	32180270	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32180270C>T	ENST00000375023.3	-	17	2799	c.2661G>A	c.(2659-2661)caG>caA	p.Q887Q	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	887	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGCAGCCTTCTGGCAGGAGG	0.592000													20	98					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88707124	88707124	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:88707124C>T	ENST00000340700.5	-	3	879	c.428G>A	c.(427-429)gGa>gAa	p.G143E	KCNK10_ENST00000319231.5_Missense_Mutation_p.G148E|KCNK10_ENST00000312350.5_Missense_Mutation_p.G148E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGAAGAGTTTCCTATTGGACT	0.418000													26	47					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88255417	88255417	+	Splice_Site	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:88255417C>A	ENST00000369536.5	-	7	497	c.451_splice	c.e7-1	p.G151_splice		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	151					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TATAAAATTTCCTAGTAATCA	0.299000													13	39					0.000151284	0.000151875	1	1	0
RTN3	10313	broad.mit.edu	37	11	63488152	63488152	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63488152C>T	ENST00000377819.5	+	3	2332	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	RTN3_ENST00000540798.1_Silent_p.F614F|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.F707F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	726					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TAGGTGTTTTCCCTACCCAAG	0.393000													12	35					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58491920	58491920	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58491920G>A	ENST00000344743.3	-	2	191	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GLYAT_ENST00000278400.3_Missense_Mutation_p.S17F|GLYAT_ENST00000529732.1_Missense_Mutation_p.S17F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTCCTCAAGGATTTCTCCAG	0.448000													13	41					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48173134	48173134	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:48173134G>A	ENST00000311303.3	-	5	1116	c.771C>T	c.(769-771)ttC>ttT	p.F257F	ABCC12_ENST00000416054.1_Silent_p.F257F|ABCC12_ENST00000448542.1_Silent_p.F257F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	257	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)				GCCCCAGAATGAAAAAGGCGT	0.473000													26	61					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542837	28542837	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:28542837C>T	ENST00000452236.2	-	3	2262	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	549					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGATCTAATTCATTTTCTGTA	0.393000													11	54					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3566510	3566510	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:3566510C>T	ENST00000378322.3	-	1	112	c.54G>A	c.(52-54)ccG>ccA	p.P18P	WRAP73_ENST00000270708.7_Silent_p.P18P			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	18						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACTTGCCGTCCGGGGAGAACT	0.721000													7	22					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48458935	48458935	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:48458935C>T	ENST00000004980.5	-	12	1666	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	SENP1_ENST00000549595.1_Silent_p.K396K|SENP1_ENST00000448372.1_Silent_p.K396K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Silent_p.K396K|SENP1_ENST00000551330.1_Silent_p.K396K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	396					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CAGGAATCTCCTTTTCAAGAG	0.358000													6	16					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869164	150869164	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:150869164C>T	ENST00000370353.3	+	4	745	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRRG3_ENST00000538575.1_Missense_Mutation_p.R119W|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	119						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGAACCGGTACCTAGC	0.632000													44	26					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209946	140209946	+	Missense_Mutation	SNP	G	G	A	rs147693617		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140209946G>A	ENST00000529310.1	+	1	2384	c.2270G>A	c.(2269-2271)aGg>aAg	p.R757K	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCAGAGGGTGTGCTCC	0.642000													15	37					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15480759	15480759	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:15480759G>A	ENST00000382020.4	+	2	516		c.e2+1		TUSC3_ENST00000503731.1_Splice_Site|TUSC3_ENST00000509380.1_Splice_Site|TUSC3_ENST00000503191.1_Splice_Site|TUSC3_ENST00000506802.1_Splice_Site	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3						cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTGTGTGCAGGtaatttatgt	0.289000													10	54					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22279905	22279905	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22279905C>T	ENST00000390431.3	+	0	94																											CCAAGTGCTCCCCTCTGAAGG	0.443000													8	9					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62553727	62553727	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:62553727G>A	ENST00000448257.2	+	8	1089	c.888G>A	c.(886-888)aaG>aaA	p.K296K	CDK1_ENST00000316629.4_Silent_p.K239K|CDK1_ENST00000373809.2_Silent_p.K239K|CDK1_ENST00000395284.3_Silent_p.K296K			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	296					activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						AGATTAAGAAGATGTAGCTTT	0.299000													18	17					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520820	131520820	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:131520820C>T	ENST00000423981.1	+	2	1285	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	AMER3_ENST00000321420.4_Missense_Mutation_p.S392L	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																		GATTCCTTCTCGCCAGGACTT	0.622000													14	30					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564391	140564391	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140564391G>A	ENST00000361016.2	+	1	3412	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		753					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATACGAGGTGTGTCTGAC	0.557000													35	97					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111310	55111310	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:55111310C>T	ENST00000314721.2	+	1	684	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTTACCTTTCTGCTAATCTC	0.438000													24	88					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023555	1023555	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:1023555G>A	ENST00000421673.2	-	26	3530	c.3480C>T	c.(3478-3480)tgC>tgT	p.C1160C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1160					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGCAGAGGCAGGGCTGGT	0.617000													8	12					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62378686	62378686	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:62378686G>A	ENST00000394773.2	-	3	632	c.325C>T	c.(325-327)Cct>Tct	p.P109S	EML3_ENST00000529309.1_Missense_Mutation_p.P109S|EML3_ENST00000494176.2_Missense_Mutation_p.P81S|EML3_ENST00000278845.4_Missense_Mutation_p.P110S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	109						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCCCTGAGGGGCTGGGGGT	0.687000													12	18					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642710	85642710	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:85642710G>A	ENST00000322366.6	-	46	7813	c.7406C>T	c.(7405-7407)cCt>cTt	p.P2469L	WDFY3_ENST00000295888.4_Missense_Mutation_p.P2486L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2486						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGTTTTAGAGGAGGCTTGAC	0.498000													8	36					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842593	52842593	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:52842593G>A	ENST00000449956.2	+	22	2575	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	ITIH3_ENST00000416872.2_Missense_Mutation_p.D665N	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	857					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACAGAAAGGATGCCAGCAT	0.532000													12	26					0	0	1	0	0
MIR154	406946	broad.mit.edu	37	14	101526167	101526167	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:101526167C>T	ENST00000385243.1	+	0	76					NR_029704.1																						ACCTATTTTTCAGTACCAAAT	0.502000													13	40					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942228	52942228	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:52942228G>A	ENST00000332323.6	+	4	1615	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	ZNF534_ENST00000433050.1_Silent_p.Q505Q|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q518Q(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTCCGTCAGAATTCACACC	0.423000													6	6					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913323	77913323	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:77913323C>T	ENST00000321110.1	-	2	890	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	199							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						TCTAGGAATTCCTGGGCATTT	0.547000													13	8					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035765	125035765	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:125035765G>A	ENST00000522917.1	+	18	2421	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D739N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	739						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGCCTCCAAAGACCTCCTCTA	0.507000													28	70					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826022	102826022	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:102826022G>A	ENST00000260302.3	-	2	349	c.321C>T	c.(319-321)ttC>ttT	p.F107F	MMP13_ENST00000340273.4_Silent_p.F107F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	107					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTTCGAGGGAAAACATTGT	0.378000													20	27					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411032	32411032	+	Silent	SNP	C	C	T	rs61117681		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32411032C>T	ENST00000395388.2	+	3	508	c.399C>T	c.(397-399)ttC>ttT	p.F133F	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	133	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TCATCTGTTTCATAGACAAGT	0.517000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				13	60					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137883	97137883	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:97137883T>G	ENST00000524981.3	+	22	2996	c.2996T>G	c.(2995-2997)cTt>cGt	p.L999R				Q6ZTY8	CL063_HUMAN		973										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						AATATCTATCTTCCCCATGTC	0.274000													6	12					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245367	233245367	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:233245367C>T	ENST00000392027.2	+	8	1169	c.900C>T	c.(898-900)atC>atT	p.I300I	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	300						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AATACGAGATCCACCGAGACT	0.632000													8	16					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228333218	228333218	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:228333218C>T	ENST00000366718.1	+	2	432	c.5C>T	c.(4-6)tCg>tTg	p.S2L	GUK1_ENST00000366730.1_Missense_Mutation_p.S2L|GUK1_ENST00000366728.2_Missense_Mutation_p.S23L|GUK1_ENST00000366722.1_Missense_Mutation_p.S2L|GUK1_ENST00000366716.1_Missense_Mutation_p.S2L|GUK1_ENST00000366723.1_Missense_Mutation_p.S23L|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366726.1_Missense_Mutation_p.S2L|GUK1_ENST00000312726.4_Missense_Mutation_p.S2L|GUK1_ENST00000366721.1_Missense_Mutation_p.S2L|GUK1_ENST00000391865.3_Missense_Mutation_p.S23L	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	2					nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCAGGCATGTCGGGCCCCAGG	0.627000													6	33					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492495	56492495	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:56492495C>T	ENST00000549832.1	+	1	461	c.5C>T	c.(4-6)cCc>cTc	p.P2L	ERBB3_ENST00000553131.1_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000267101.3_Intron|ERBB3_ENST00000415288.2_Intron			P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	0					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACTTCATGCCCATGTCTACT	0.473000													18	44					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629092	47629092	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:47629092C>T	ENST00000546455.1	+	4	977	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PCED1B_ENST00000432328.1_Silent_p.F82F					PC-esterase domain containing 1B																		TCCGCGAGTTCCGCTCCGACC	0.597000													25	62					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506063	178506063	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:178506063C>T	ENST00000315475.6	+	5	936	c.630C>T	c.(628-630)taC>taT	p.Y210Y		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		TCCAGATTTACCCAGGAGGAA	0.368000													11	24					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46281829	46281829	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:46281829G>A	ENST00000600757.1	-	4	1220	c.533C>T	c.(532-534)cCg>cTg	p.P178L	DMPK_ENST00000354227.5_Missense_Mutation_p.P168L|DMPK_ENST00000343373.4_Missense_Mutation_p.P178L|DMPK_ENST00000447742.2_Missense_Mutation_p.P168L|DMPK_ENST00000458663.2_Missense_Mutation_p.P168L|DMPK_ENST00000291270.4_Missense_Mutation_p.P168L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	178	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCTCGGCCGGAATCCGCTC	0.612000													17	30					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328408	61328408	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61328408G>A	ENST00000283752.5	-	2	186	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SERPINB3_ENST00000332821.8_Silent_p.L15L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	15					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						TGTTGGAACAGGTCGAACATG	0.433000													49	101					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474984	140474984	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140474984C>T	ENST00000194155.4	+	1	758	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTGGATCGCGAGGAGCA	0.507000													7	18					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509678	149509678	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:149509678G>A	ENST00000378016.2	+	0	9952							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAAGGGGCCGAGTATAGCCC	0.617000													30	53					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137690273	137690273	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:137690273G>A	ENST00000371817.3	+	37	3332	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	973	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)		GGCAAGGATGGACTCCCAGGA	0.567000													11	32					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508766	26508766	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:26508766C>T	ENST00000244513.6	+	7	1011	c.945C>T	c.(943-945)caC>caT	p.H315H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	315	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTCATCCCCACCTCTTTCTTT	0.463000													98	145					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434209	22434209	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22434209G>A	ENST00000390442.3	+	0	318																											AGCACAGGTCGATAAATCCAG	0.478000													40	97					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083160	9083160	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9083160G>A	ENST00000397910.4	-	1	8858	c.8655C>T	c.(8653-8655)atC>atT	p.I2885I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2886	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						TAGACTGTGGGATCCCCCAAG	0.527000													6	18					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123396863	123396863	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123396863G>A	ENST00000529750.1	+	1	334	c.7G>A	c.(7-9)Gga>Aga	p.G3R	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G3R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G3R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	3						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACTAATGAAAGGATTCAAGCT	0.527000													4	12					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824403	70824403	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70824403G>A	ENST00000258111.4	+	3	1062	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	201					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CGGTCAAGGCGGAAGCCATGA	0.547000													22	40					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036204	1036204	+	Missense_Mutation	SNP	G	G	A	rs138515103		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:1036204G>A	ENST00000263097.4	+	5	829	c.466G>A	c.(466-468)Gat>Aat	p.D156N	CNN2_ENST00000348419.3_Intron|CNN2_ENST00000565096.2_Missense_Mutation_p.D145N|CNN2_ENST00000562958.2_Missense_Mutation_p.D177N|CNN2_ENST00000606983.1_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	156					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATTTCGACGATGCCACCAT	0.657000													14	29					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221066	45221066	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:45221066G>A	ENST00000279027.4	-	6	915	c.897C>T	c.(895-897)ttC>ttT	p.F299F	SLC13A3_ENST00000396360.1_Silent_p.F252F|SLC13A3_ENST00000495082.1_Silent_p.F252F|SLC13A3_ENST00000290317.5_Silent_p.F252F|SLC13A3_ENST00000413164.2_Silent_p.F249F|SLC13A3_ENST00000372121.1_Silent_p.F249F|SLC13A3_ENST00000472148.1_Silent_p.F252F|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	299						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCCGTACAGGAAGGAGATCC	0.502000													8	33					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:10916422G>A	ENST00000298232.7	-	19	1537	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L|TPTE_ENST00000361285.4_Silent_p.L408L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTCTTGGAGGGAGATTCCAGT	0.363000													6	59					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180673	65180673	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:65180673C>A	ENST00000310045.7	-	2	2676	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	391						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGGGATCATACCAGATGTATT	0.478000													16	37					2.32078e-09	2.34586e-09	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54936410	54936410	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54936410C>T	ENST00000293373.6	+	31	3404	c.3325C>T	c.(3325-3327)Cct>Tct	p.P1109S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P1059S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1109					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						GTCCTGTTTCCCTTATGTCCT	0.542000													24	70					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102665596	102665596	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:102665596G>A	ENST00000393772.2	-	6	835	c.409C>T	c.(409-411)Cct>Tct	p.P137S	FBXL13_ENST00000379306.3_Missense_Mutation_p.P137S|FBXL13_ENST00000379305.3_Missense_Mutation_p.P137S|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000313221.4_Missense_Mutation_p.P137S|FBXL13_ENST00000379308.3_Missense_Mutation_p.P137S|FBXL13_ENST00000436908.1_Missense_Mutation_p.P137S|FBXL13_ENST00000455112.2_Missense_Mutation_p.P137S|FBXL13_ENST00000456695.1_Missense_Mutation_p.P137S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	137										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTTCGTTCAGGAAAATTGGAT	0.308000													3	6					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252512	7252512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:7252512G>A	ENST00000266542.4	-	4	693	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	C1RL_ENST00000544702.1_Nonsense_Mutation_p.Q201*|C1RL_ENST00000545280.1_Nonsense_Mutation_p.Q85*	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	201					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCGCGGCCTGATAATAGGGC	0.617000													16	22					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096727	41096727	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:41096727C>T	ENST00000291842.5	+	17	1909	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	SHKBP1_ENST00000600733.1_Silent_p.L595L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	620						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGCTGTCTCCCCAGCCCCT	0.657000													29	65					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115791956	115791956	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:115791956G>T	ENST00000264363.2	-	7	2365	c.1687C>A	c.(1687-1689)Ctc>Atc	p.L563I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	563	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCAGGGAAGAGCTCAAAATAC	0.438000													16	41					1.56452e-12	1.58454e-12	1	1	0
IL1RL2	8808	broad.mit.edu	37	2	102808507	102808507	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:102808507G>A	ENST00000264257.2	+	4	542	c.416G>A	c.(415-417)gGa>gAa	p.G139E	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.G139E	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	139	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTACATCTTGGAAAAGATGAT	0.328000													16	46					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018391	154018391	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:154018391C>T	ENST00000496811.1	-	11	1533	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DHX36_ENST00000544526.1_Missense_Mutation_p.E485K|DHX36_ENST00000329463.5_Missense_Mutation_p.E485K|DHX36_ENST00000308361.6_Missense_Mutation_p.E485K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	485	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCTCTTCTTCCAAAACAATG	0.299000													9	12					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326244	57326244	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57326244T>G	ENST00000326441.9	-	10	3929	c.3566A>C	c.(3565-3567)cAg>cCg	p.Q1189P	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1065P|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1189P|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1063P|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1189					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAATACAACTGGTCTTGTTC	0.468000													7	94					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744558	37744558	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:37744558G>A	ENST00000539465.1	+	16	3122	c.2529G>A	c.(2527-2529)caG>caA	p.Q843Q	FRMPD1_ENST00000377765.3_Silent_p.Q843Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	843						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTTTCCTACAGACCGACTACA	0.562000													18	68					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809494	48809494	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:48809494C>T	ENST00000309835.3	+	1	1732	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V	STON1-GTF2A1L_ENST00000405008.1_Silent_p.V574V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V574V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V574V|STON1_ENST00000406226.1_Silent_p.V574V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V574V|STON1_ENST00000404752.1_Silent_p.V574V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V574V					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTCCTGTCCCATCGCAGT	0.498000													21	47					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716017	40716017	+	RNA	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:40716017A>T	ENST00000604146.1	+	0	356					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAGAGAGTTCAG	0.547000													5	23					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940434	82940434	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:82940434G>A	ENST00000274341.4	-	4	1373	c.523C>T	c.(523-525)Cac>Tac	p.H175Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	175	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGCGCCTCGTGAAAATTGAGA	0.567000													11	30					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165587	180165587	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:180165587G>A	ENST00000367602.3	+	12	1733	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	QSOX1_ENST00000367600.5_Silent_p.R553R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	553					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCGGAGGGATGTGCAGA	0.612000													91	121					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335776	90335776	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:90335776G>A	ENST00000300060.6	-	17	2580	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	756	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGTGCTGATGGCATTAACCTC	0.572000													7	26					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F8F|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000377139.3_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000													11	53					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128393882	128393882	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:128393882G>A	ENST00000389524.4	+	44	6084	c.6031G>A	c.(6031-6033)Gcc>Acc	p.A2011T	MYO7B_ENST00000428314.1_Missense_Mutation_p.A2010T|MYO7B_ENST00000409090.1_Missense_Mutation_p.A863T|MYO7B_ENST00000409816.2_Missense_Mutation_p.A2010T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2010	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTTCGGATCCGCCTTCTTCGA	0.617000													15	42					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402034	9402034	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9402034G>A	ENST00000378501.2	+	23	2224	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PLCB4_ENST00000378493.1_Missense_Mutation_p.E737K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E737K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E749K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E749K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E737K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	737	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E737K(1)		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						CATACGTAAGGAATTCCGAAC	0.408000													15	39					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44250052	44250052	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:44250052A>C	ENST00000371505.4	-	4	1213	c.1091T>G	c.(1090-1092)cTc>cGc	p.L364R	TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	364										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGGAAATGAGGTTGGTGTT	0.612000													41	156					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283086	59283086	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:59283086G>A	ENST00000329328.3	+	1	701	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GAAGGCAGGAGGAAAGCCATC	0.517000													66	113					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97124019	97124019	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97124019G>A	ENST00000389672.5	+	6	1670	c.1632G>A	c.(1630-1632)agG>agA	p.R544R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	449						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGTGGTAAGGAAGGACTGGG	0.398000													3	4					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155265550	155265550	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155265550G>A	ENST00000392825.3	+	11	1918	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	GALNT13_ENST00000409237.1_Missense_Mutation_p.E451K|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	451	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAAGGAAAATGAAAAAGTGGG	0.363000													17	31					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74477506	74477506	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74477506G>A	ENST00000591885.1	-	3	651	c.101C>T	c.(100-102)cCc>cTc	p.P34L	RHBDF2_ENST00000313080.4_Missense_Mutation_p.P34L|RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000389760.4_Missense_Mutation_p.P34L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	34					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTCTTTCTCGGGTGGCGGGAT	0.632000													38	45					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668693	176668693	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:176668693G>A	ENST00000367662.3	+	8	4368	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1068					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCGTGGTGGTGACACATT	0.567000													38	148					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700954	192700954	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:192700954G>A	ENST00000304141.4	-	2	1302	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	325						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGTCATTTGGCATCTGCTCA	0.552000													34	53					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524851	86524851	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:86524851G>A	ENST00000370571.2	-	9	2125	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P587S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	587	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCAAATCCTGGAATTCCCTGA	0.338000													14	7					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221506	55221506	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55221506C>T	ENST00000413439.1	+	0	1286																											CCAGGCTGGGCTCTCCCAGGC	0.642000													11	44					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005430	74005430	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:74005430G>A	ENST00000358602.4	-	15	3019	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P855L|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	968	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAGGCAAGGGACCTGCCGC	0.557000													7	31					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906869	26906869	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:26906869A>T	ENST00000231021.4	-	4	774	c.602T>A	c.(601-603)aTa>aAa	p.I201K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	201	Cadherin 2.				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						TCCTTGCAATATGCTATAGAC	0.383000													8	23					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151176425	151176425	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:151176425C>T	ENST00000282466.3	-	1	72	c.73G>A	c.(73-75)Ggg>Agg	p.G25R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	25					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTTGCCCCCAGGGGTGGCG	0.542000													13	34					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471283	47471283	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:47471283C>T	ENST00000266581.4	-	2	1969	c.1503G>A	c.(1501-1503)agG>agA	p.R501R	AMIGO2_ENST00000321382.3_Silent_p.R501R|AMIGO2_ENST00000550413.1_Silent_p.R501R|AMIGO2_ENST00000429635.1_Silent_p.R501R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	501					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGATTTCCCCCTCGTGGACT	0.458000													9	25					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674849	130674849	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:130674849C>T	ENST00000335791.5	-	4	584	c.309G>A	c.(307-309)atG>atA	p.M103I	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.M19I|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	103					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GCGCCTGGTTCATGCGGAACA	0.662000													16	26					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540140	55540140	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:55540140C>T	ENST00000220676.1	+	4	3846	c.3698C>T	c.(3697-3699)tCc>tTc	p.S1233F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1233					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)			CAAGGAATCTCCTCTTTGGAT	0.443000													26	90					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769914	43769914	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:43769914T>A	ENST00000389420.3	-	35	5257	c.5258A>T	c.(5257-5259)gAa>gTa	p.E1753V		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1753	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTTAAATATTCCTTAGGGTT	0.338000													4	9					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498055	147498055	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:147498055G>A	ENST00000359874.3	+	23	2241	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q	SPINK5_ENST00000256084.7_Missense_Mutation_p.R723Q|SPINK5_ENST00000398454.1_Missense_Mutation_p.R723Q	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	723	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R723Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTACTCGGGAGAGTGAT	0.428000													23	36					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102440	155102440	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155102440C>T	ENST00000392825.3	+	7	1369	c.802C>T	c.(802-804)Cct>Tct	p.P268S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P268S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCGCTGGTATCCTGTTCCCCA	0.398000													20	31					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823497	70823497	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:70823497G>A	ENST00000353151.3	-	5	181	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	57					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTGGAAAGAGGGGTAGATTTT	0.418000													25	52					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337658	19337658	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19337658G>A	ENST00000252575.5	+	7	1479	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	479					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGCCTAGGAGAAGGGGGCGC	0.667000													10	37					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380765	28380765	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:28380765C>T	ENST00000394835.3	+	10	1985	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	EFCAB5_ENST00000536908.2_Missense_Mutation_p.S542L|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S598L|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S598L|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S598L|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S255L	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	598							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAACAAGGATCAAGCAGAGAG	0.468000													36	150					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985041	72985041	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:72985041G>A	ENST00000305632.5	-	7	1381	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.S344S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	380										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGATGTCAAAGGACAAGTTGG	0.602000													30	54					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988150	124988150	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:124988150C>T	ENST00000522917.1	+	9	902	c.696C>T	c.(694-696)atC>atT	p.I232I	FER1L6_ENST00000399018.1_Silent_p.I232I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	232	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTTTTGATCCCCAATGGGT	0.438000													69	74					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997594	38997594	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:38997594G>A	ENST00000400482.3	-	4	1728	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	KCNJ6_ENST00000288309.6_Missense_Mutation_p.P380L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	380					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCAACTCAGGGGCAGCTCTGC	0.498000													37	36					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169676541	169676541	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:169676541G>A	ENST00000236147.4	-	4	721	c.561C>T	c.(559-561)atC>atT	p.I187I	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	174	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AATTATTGATGATTTCTACAC	0.398000													16	30					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898098	30898098	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:30898098G>A	ENST00000375712.3	+	2	685	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	173	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGACACAGGAGTGTATGTG	0.488000													19	45					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973852	117973852	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:117973852G>A	ENST00000534111.1	+	4	453	c.188G>A	c.(187-189)gGg>gAg	p.G63E	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.G25E|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.G65E|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.G65E	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	65	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTCCTCTGCGGGCAGCCTCTC	0.587000													58	76					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140720598C>T	ENST00000394576.2	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.682000													54	108					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70723360	70723360	+	Translation_Start_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:70723360C>T	ENST00000226444.3	-	2	115	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	1					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTTCAGAATTCATTGTGGTAC	0.328000													12	33					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													61	114					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952393	52952393	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:52952393G>A	ENST00000349258.4	-	4	2097	c.1553C>T	c.(1552-1554)cCc>cTc	p.P518L	THSD1_ENST00000258613.4_Missense_Mutation_p.P571L|THSD1_ENST00000544466.1_Missense_Mutation_p.P192L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	571						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAAATCTAAGGGAGCGCTGGG	0.552000													41	90					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231015	147231015	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:147231015G>A	ENST00000271348.2	-	2	493	c.332C>T	c.(331-333)gCc>gTc	p.A111V	GJA5_ENST00000369237.1_Missense_Mutation_p.A111V	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	111					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGCCCTCTCGGCCTCCCGTAG	0.612000													62	70					0	0	1	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728851	118728851	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:118728851C>T	ENST00000504771.2	+	2	2149	c.372C>T	c.(370-372)gaC>gaT	p.D124D	TNFAIP8_ENST00000504642.1_Silent_p.D126D|TNFAIP8_ENST00000503646.1_Silent_p.D124D|TNFAIP8_ENST00000513374.1_Silent_p.D136D|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Silent_p.D114D	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	124					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ATACCTTTGACCGGAATGTGT	0.428000													15	32					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748082	41748082	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:41748082G>A	ENST00000226382.2	-	3	1046	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	229					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ccgggcccccgggccccgccg	0.841000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	3					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002376	98002376	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:98002376C>T	ENST00000355273.2	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGGTATTCACCATTGTGACAG	0.358000													10	18					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10547720	10547720	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10547720G>A	ENST00000583535.1	-	14	1445	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	MYH3_ENST00000226209.7_Missense_Mutation_p.P453L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	453	Myosin head-like.				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						GTGTTGTCTTGGAAGCTTCGT	0.378000													30	51					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153727185	153727185	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:153727185G>T	ENST00000456435.1	+	9	1495	c.309G>T	c.(307-309)atG>atT	p.M103I	INTS3_ENST00000318967.2_Missense_Mutation_p.M309I|INTS3_ENST00000512605.1_Missense_Mutation_p.M103I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.M309I			Q68E01	INT3_HUMAN	integrator complex subunit 3	310					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCGGACATGGAGACTAAAC	0.498000													78	88					2.47556e-37	2.53216e-37	1	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092034	139092034	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:139092034C>T	ENST00000354926.4	+	6	979	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.H206Y|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.H208Y|LUC7L2_ENST00000541515.3_Missense_Mutation_p.H275Y	NM_016019.3	NP_057103.2																					ACTGGCTGATCATTTTGGGGG	0.398000													9	36					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697217	156697217	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:156697217G>A	ENST00000313146.6	-	1	1010	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ISG20L2_ENST00000368219.1_Silent_p.F76F	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	76					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTTGGGAAGGAAGGGG	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	77					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224067	23224067	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:23224067G>A	ENST00000300061.2	+	9	1506	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	455					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGTGCAAGGAAGCCTGCAG	0.567000													28	66					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274968	65274968	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:65274968G>A	ENST00000381210.3	-	1	212	c.102C>T	c.(100-102)caC>caT	p.H34H	TECRL_ENST00000507440.1_Silent_p.H34H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	34					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						TTGACAAAAAGTGAAAATTTC	0.418000													13	49					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908469	139908469	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:139908469G>A	ENST00000265662.5	-	28	4409	c.4262C>T	c.(4261-4263)tCg>tTg	p.S1421L	ABCA2_ENST00000341511.6_Missense_Mutation_p.S1421L|ABCA2_ENST00000371605.3_Missense_Mutation_p.S1420L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1420					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCGACCCTCGACAGGGCCTC	0.687000													17	36					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023565	206023565	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:206023565C>T	ENST00000406610.2	+	11	1761	c.1554C>T	c.(1552-1554)tcC>tcT	p.S518S	PARD3B_ENST00000351153.1_Silent_p.S518S|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000462231.1_Silent_p.S518S|PARD3B_ENST00000349953.3_Silent_p.S518S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	518	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAACAAATCCAGAGAAACTG	0.473000													21	50					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50641240	50641240	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:50641240G>A	ENST00000216373.5	-	8	1274	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	334	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGGACATAACGAACTGCCTCT	0.398000													3	18					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390642	52390642	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:52390642C>T	ENST00000443374.1	+	0	1335																											AACTCTTCATCGTCAACTACT	0.438000													9	14					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99711924	99711924	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99711924G>A	ENST00000472509.1	-	1	257	c.80C>T	c.(79-81)tCt>tTt	p.S27F	TAF6_ENST00000453269.2_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000497233.1_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	642					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAGAAAAAGAAACGTGAGA	0.587000													4	11					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9440326	9440326	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9440326G>A	ENST00000378501.2	+	31	3096	c.3081G>A	c.(3079-3081)atG>atA	p.M1027I	PLCB4_ENST00000378493.1_Missense_Mutation_p.M1027I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M1027I|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378473.3_Missense_Mutation_p.M1039I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M1039I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M1027I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1027					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						GGTCAGAAATGATCAATACCC	0.493000													16	28					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025675	18025675	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:18025675C>T	ENST00000205890.5	+	2	3899	c.3561C>T	c.(3559-3561)tcC>tcT	p.S1187S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1187	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGCCTGTCCCTTAGGGGCT	0.637000													17	46					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790794	38790794	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:38790794G>T	ENST00000359357.3	+	25	3307	c.3053G>T	c.(3052-3054)cGc>cTc	p.R1018L	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235L|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018L					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						ACAGAGGACCGCGATGTGAAA	0.453000													10	34					4.3838e-07	4.41815e-07	1	1	0
SYNPO	11346	broad.mit.edu	37	5	150028349	150028349	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:150028349C>T	ENST00000394243.1	+	3	1618	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	SYNPO_ENST00000522122.1_Missense_Mutation_p.S415F|SYNPO_ENST00000519664.1_Missense_Mutation_p.S171F|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Missense_Mutation_p.S171F	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	415					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCTTCTCCAGAGAAGCT	0.572000													65	149					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980651	14980651	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:14980651C>T	ENST00000287667.7	+	28	3427	c.3256C>T	c.(3256-3258)Cca>Tca	p.P1086S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1086						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCTCGACAATCCAATCCAGAC	0.478000													20	59					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747489	124747489	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124747489C>T	ENST00000397801.1	+	20	3113	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.S952L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	974					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGAAGCCCCTCGGCCCAGGAA	0.637000													4	8					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535428	90535428	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:90535428C>T	ENST00000602681.1	+	0	1332																											CAGAACCTTCCCTTCTCCTAG	0.617000													65	125					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294208	141294208	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:141294208G>A	ENST00000389484.3	-	46	8555	c.7584C>T	c.(7582-7584)ctC>ctT	p.L2528L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2528	LDL-receptor class A 11.				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)		CATCACAGGTGAGCTGGTAGT	0.378000										TSP Lung(27;0.18)			15	34					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746402	81746402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:81746402G>A	ENST00000356860.3	-	6	822	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.Q162*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Q162*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	162						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)	GCTGCGTGCTGATAAGATATT	0.393000													13	41					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100165837	100165837	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:100165837C>T	ENST00000261835.3	+	4	421	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CYP46A1_ENST00000423126.2_Missense_Mutation_p.S9F	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	106					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AACAAGGACTCCAAGATGTAC	0.517000													64	177					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615052	10615052	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:10615052G>A	ENST00000547195.1	-	16	2389	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	MRVI1_ENST00000436272.1_Missense_Mutation_p.S694F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S712F|MRVI1_ENST00000531107.1_Missense_Mutation_p.S713F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S515F|MRVI1_ENST00000534266.2_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000527509.2_Missense_Mutation_p.S630F|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.S721F|MRVI1_ENST00000558540.1_Missense_Mutation_p.S406F|MRVI1_ENST00000552103.1_Missense_Mutation_p.S630F|MRVI1_ENST00000424001.1_Missense_Mutation_p.S406F|MRVI1_ENST00000545852.1_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	694					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTGGTAAGGAGGGAATGGA	0.522000													9	35					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189261	11189261	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:11189261C>G	ENST00000382435.4	+	1	865	c.646C>G	c.(646-648)Ccc>Gcc	p.P216A		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	216						integral to membrane											TCTGCACTTTCCCTCCTGCCT	0.627000													28	126					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91363863	91363863	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:91363863G>A	ENST00000261172.3	-	6	848	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	252					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTGGCAGAGGGATGTGGTCCA	0.453000													47	119					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35280641	35280641	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:35280641C>T	ENST00000408931.3	-	5	1189	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	221						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCATTGAGTTCAAAATTATCT	0.373000													9	30					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648316	57648316	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57648316C>T	ENST00000269834.1	-	4	551	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGATCACATCGGGTTTGGTG	0.507000													25	57					0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587712	31587712	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr21:31587712C>T	ENST00000399899.1	-	1	679	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CLDN8_ENST00000286809.1_Missense_Mutation_p.G178R	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	178					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGAGCTCCTCCAACAATCAGC	0.448000													14	16					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063086	54063086	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54063086G>A	ENST00000338662.5	-	4	1410	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	ATP5G2_ENST00000549164.1_Missense_Mutation_p.L53F|ATP5G2_ENST00000602871.1_Missense_Mutation_p.L53F|ATP5G2_ENST00000394349.3_Missense_Mutation_p.L110F	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	53					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTAGAGACAAGTGAGGTAAGG	0.507000													13	25					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114414213	114414213	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:114414213C>T	ENST00000359785.5	-	1	168	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000420377.2_Silent_p.L11L|PTPN22_ENST00000528414.1_Silent_p.L11L|PTPN22_ENST00000525799.1_Silent_p.L11L|PTPN22_ENST00000460620.1_Silent_p.L11L|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	11					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTCATCCAGGAACTTCT	0.433000													26	20					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093303	211093303	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:211093303G>A	ENST00000367007.4	-	7	1229	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	KCNH1_ENST00000271751.4_Silent_p.L381L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	381					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACACCAGCAGGACCAGCACA	0.552000													32	109					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087650	92087650	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:92087650G>A	ENST00000298047.6	+	1	2389	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	FAT3_ENST00000525166.1_Missense_Mutation_p.R641Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R791Q|FAT3_ENST00000541502.1_Missense_Mutation_p.R791Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	791	Cadherin 7.				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)				CCCATGGATCGAGAACACACA	0.403000										TCGA Ovarian(4;0.039)			21	45					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111291280	111291280	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:111291280G>A	ENST00000308208.5	+	3	323	c.81G>A	c.(79-81)gcG>gcA	p.A27A	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGCAGCAGGCGGAGGCAGAGC	0.547000													12	35					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199320	20199320	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:20199320C>T	ENST00000400331.5	-	5	972	c.664G>A	c.(664-666)Gga>Aga	p.G222R	MACC1_ENST00000332878.4_Missense_Mutation_p.G222R|MACC1_ENST00000589011.1_Missense_Mutation_p.G222R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	222					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACTGACCCTCCTTGATGGTTT	0.502000													7	30					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430096	29430096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29430096C>T	ENST00000377136.1	+	4	1015	c.550C>T	c.(550-552)Cga>Tga	p.R184*	OR2H1_ENST00000377132.1_Nonsense_Mutation_p.R184*|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Nonsense_Mutation_p.R184*|OR2H1_ENST00000377133.1_Nonsense_Mutation_p.R184*|OR2H1_ENST00000396792.2_Nonsense_Mutation_p.R184*			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	184				R -> G (in Ref. 6; AAC00188).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ATCTCTGATTCGACTCTCCTG	0.502000													49	188					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929285	4929285	+	Missense_Mutation	SNP	C	C	T	rs147819477	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4929285C>T	ENST00000359350.4	+	1	686	c.686C>T	c.(685-687)tCt>tTt	p.S229F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		AGCATTGCATCTTTGGCAGAG	0.473000													37	60					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74272379	74272379	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:74272379G>A	ENST00000295897.4	+	3	260	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Silent_p.Q57Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	57	Albumin 1.				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)	ATCTTCAGCAGTGTCCATTTG	0.343000													8	30					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288047	151288047	+	Splice_Site	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:151288047A>G	ENST00000368875.2	-	3	1526		c.e3+1		PI4KB_ENST00000368873.1_Splice_Site|PI4KB_ENST00000368872.1_Splice_Site|PI4KB_ENST00000368874.4_Splice_Site|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Splice_Site	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAATTTTACCTCATCCTC	0.512000													53	50					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155234227	155234227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:155234227G>A	ENST00000424344.3	+	6	880	c.513G>A	c.(511-513)tgG>tgA	p.W171*	IL9R_ENST00000540897.1_Nonsense_Mutation_p.W217*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.W227*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.W192*			Q01113	IL9R_HUMAN	interleukin 9 receptor	192	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGAGGCCTGGGAGGTAACAC	0.562000													20	15					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771475	143771475	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:143771475C>T	ENST00000408898.2	+	1	201	c.163C>T	c.(163-165)Cac>Tac	p.H55Y		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	55					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)					CTCCAGACTCCACACCCCCAT	0.567000													18	54					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70701204	70701204	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:70701204G>T	ENST00000370950.3	+	6	643	c.561G>T	c.(559-561)ttG>ttT	p.L187F	SRSF11_ENST00000370951.1_Missense_Mutation_p.L187F|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.L127F|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.L187F			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	187					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CAGATCAGTTGCTGAAGCTTA	0.318000													27	15					2.36697e-06	2.38319e-06	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37334515	37334515	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:37334515G>A	ENST00000262825.5	+	14	2900	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K	CSF2RB_ENST00000406230.1_Missense_Mutation_p.E895K|CSF2RB_ENST00000536485.1_Missense_Mutation_p.E836K|CSF2RB_ENST00000403662.3_Missense_Mutation_p.E889K	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	889					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCTTGGGAGGTCAACAA	0.617000													14	78					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802366	27802366	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:27802366G>A	ENST00000408964.2	+	1	2978	c.2927G>A	c.(2926-2928)aGg>aAg	p.R976K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	976										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGCCTTAAGGATATGGACA	0.393000													13	34					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801496	140801496	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140801496C>T	ENST00000398587.2	+	1	735	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.L234L|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.L234L(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTCCTCGATGTAAATG	0.517000													21	43					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841405	100841405	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:100841405C>T	ENST00000369208.3	-	11	2310	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SIM1_ENST00000262901.4_Missense_Mutation_p.E510K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	510	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATGCTGTTTTCATAGGCTTCT	0.597000													28	46					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11550485	11550485	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:11550485G>A	ENST00000262442.3	+	12	2135	c.2067G>A	c.(2065-2067)acG>acA	p.T689T	DNAH9_ENST00000454412.2_Silent_p.T689T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	689	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGAGACGAAGGAGATCA	0.443000													31	62					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505404	155505404	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:155505404C>T	ENST00000302053.3	-	6	2551	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	825	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCATAGGAGCCCCCAGGGTAG	0.498000													42	71					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259167	89259167	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:89259167G>A	ENST00000336596.2	+	3	536	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.R104Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.R104Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	104						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)		TTCACTCTACGAGACTGCAAT	0.443000										TSP Lung(6;0.00050)			24	59					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286724	57286724	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:57286724G>A	ENST00000391708.3	-	12	1458	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S	ZIM2_ENST00000221722.5_Missense_Mutation_p.P306S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P306S|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.P306S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P306S	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTTCCTGGGGATCCTTTCCT	0.453000													19	34					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:15535023G>A	ENST00000389282.4	-	9	4980	c.4767C>T	c.(4765-4767)ttC>ttT	p.F1589F	WIZ_ENST00000599910.1_Silent_p.F906F|WIZ_ENST00000599686.2_Silent_p.F773F|WIZ_ENST00000545156.1_Silent_p.F903F|WIZ_ENST00000263381.6_Silent_p.F732F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000													4	10					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696776	111696776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:111696776C>A	ENST00000435970.1	-	15	3364	c.2548G>T	c.(2548-2550)Gag>Tag	p.E850*	REV3L_ENST00000368805.1_Nonsense_Mutation_p.E928*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.E928*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.E928*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	928					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCAGTCTCATAATTTACC	0.373000								DNA polymerases (catalytic subunits)					14	29					1.52009e-12	1.54106e-12	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	G	A	rs115724540	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:156381695G>A	ENST00000274532.2	-	2	187	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_ENST00000407087.3_Missense_Mutation_p.S44F	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000													8	29					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830672	38830672	+	Silent	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:38830672T>C	ENST00000436693.2	-	2	542	c.423A>G	c.(421-423)gaA>gaG	p.E141E	TLR6_ENST00000381950.1_Silent_p.E141E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	141					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTGCCAAATTCCTTACAGA	0.388000													19	29					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:248458252G>A	ENST00000317996.1	-	1	628	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000													11	69					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142186843	142186843	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:142186843G>A	ENST00000350721.4	-	39	6741	c.6620C>T	c.(6619-6621)tCc>tTc	p.S2207F	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.S2143F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2207					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						CTTCTCTAAGGATTTTTTCAT	0.333000								Other conserved DNA damage response genes					11	39					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393932	233393932	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233393932G>A	ENST00000258229.8	-	5	1910	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	559						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCAGATTTGGAAGTTGGCAT	0.438000													24	25					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914478	147914478	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:147914478C>T	ENST00000361727.3	+	19	3625	c.3109C>T	c.(3109-3111)Ccc>Tcc	p.P1037S	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P96S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1037					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGACAACGCTCCCGACCAGCA	0.537000										HNSCC(39;0.1)			22	63					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415687	74415687	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:74415687C>T	ENST00000376332.3	-	7	1091	c.595G>A	c.(595-597)Gat>Aat	p.D199N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.D199N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	199					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAACATGGATCCTGAGGATGT	0.597000													9	21					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357037	89357037	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:89357037G>A	ENST00000301030.4	-	6	1057	c.597C>T	c.(595-597)ttC>ttT	p.F199F	ANKRD11_ENST00000378330.2_Silent_p.F199F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	199						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCACCTGCGAAGTCCTTGA	0.687000													20	49					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165900	172165900	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:172165900G>A	ENST00000241256.2	-	1	346	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GHSR_ENST00000427970.1_Missense_Mutation_p.R102C	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	102					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCAGAGGCGAACGAGGTCC	0.612000													16	39					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180166058	180166058	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:180166058C>T	ENST00000367602.3	+	12	2204	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	710					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGGACATCAGCCTCTGTG	0.642000													20	80					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4411379	4411379	+	Missense_Mutation	SNP	G	G	A	rs113335841		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:4411379G>A	ENST00000251166.4	-	17	1815	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	CORO7_ENST00000539968.1_Missense_Mutation_p.P337L|CORO7_ENST00000574025.1_Missense_Mutation_p.P472L|CORO7_ENST00000537233.2_Missense_Mutation_p.P539L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P557L|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GAGGCGATGGGGGTCAAAGGG	0.682000													17	71					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465889	56465889	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:56465889G>A	ENST00000291971.3	+	3	536	c.465G>A	c.(463-465)tcG>tcA	p.S155S	NLRP8_ENST00000590542.1_Silent_p.S155S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	155						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTATAAATCGAATGTGATGG	0.418000													24	48					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983456	28983456	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28983456C>T	ENST00000359747.4	+	11	1524	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P499S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	499					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACATTTTTCCTGAAAGAAG	0.393000													5	16					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63631025	63631025	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:63631025G>A	ENST00000178638.3	-	8	1307	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CA12_ENST00000344366.3_Silent_p.F289F|CA12_ENST00000422263.2_Silent_p.F229F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	289					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CACCTTGGGAGAAGGAGGTGT	0.572000													29	44					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155446	22155446	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:22155446C>T	ENST00000397126.4	-	4	2538	c.2390G>A	c.(2389-2391)aGa>aAa	p.R797K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTT	0.353000													5	24					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247357	164247357	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:164247357G>A	ENST00000296533.2	-	2	881	c.350C>T	c.(349-351)cCt>cTt	p.P117L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	117					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGCACAAAAGGATTCAACTT	0.448000													27	61					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242011030	242011030	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:242011030G>A	ENST00000310397.8	+	25	3629	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	SNED1_ENST00000401884.1_Missense_Mutation_p.G1210E|SNED1_ENST00000405547.3_Missense_Mutation_p.G1210E|SNED1_ENST00000342631.6_Missense_Mutation_p.G1210E	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1210					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)		CACCAGGGAGGACACCACCCT	0.721000													4	10					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755222	123755222	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123755222G>A	ENST00000375026.2	-	2	519	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	101						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGATGGTAGTGAAGAGTTGTA	0.428000													14	30					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90151562	90151562	+	Silent	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:90151562T>C	ENST00000405460.2	+	82	17695	c.17599T>C	c.(17599-17601)Ttg>Ctg	p.L5867L	GPR98_ENST00000425867.2_Silent_p.L1528L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5867	GPS.				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)		CCCTAGCTGGTTGTCTGACAG	0.398000													37	84					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957391	35957391	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:35957391C>T	ENST00000341959.2	-	1	760	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCTTTTTCCTCCCCTCAG	0.507000													38	64					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370885	126370885	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:126370885G>A	ENST00000394329.3	+	9	8727	c.8714G>A	c.(8713-8715)gGa>gAa	p.G2905E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1203E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2905	Cadherin 28.				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						GGATCAAATGGACAAGTGTTT	0.348000													18	55					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	383722	383722	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:383722G>A	ENST00000256509.2	+	7	1278	c.636G>A	c.(634-636)agG>agA	p.R212R	CHL1_ENST00000397491.2_Silent_p.R212R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	212	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAGATTAAGGACTATTGTAC	0.373000													14	19					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55620382	55620382	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:55620382G>A	ENST00000370830.3	-	7	2012	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	BMP5_ENST00000446683.2_Silent_p.V401V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	438					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTTCAAAATGACATTGGAGC	0.348000													16	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654209	179654209	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179654209C>T	ENST00000589042.1	-	13	2178	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	TTN_ENST00000359218.5_Missense_Mutation_p.E606K|TTN_ENST00000342992.6_Missense_Mutation_p.E652K|TTN_ENST00000342175.6_Missense_Mutation_p.E606K|TTN_ENST00000591111.1_Missense_Mutation_p.E652K|TTN_ENST00000460472.2_Missense_Mutation_p.E606K|TTN_ENST00000360870.5_Missense_Mutation_p.E652K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	652							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)			GCAGTTTTCTCGGCTTCCTTT	0.398000													8	26					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:152732646G>A	ENST00000368773.1	+	2	640	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000606109.1_Silent_p.Q194Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547000													73	81					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056229	167056229	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:167056229G>A	ENST00000303354.6	-	27	5263	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S	SCN9A_ENST00000409435.1_Silent_p.S1640S|SCN9A_ENST00000375387.4_Silent_p.S1641S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S1629S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1640						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)	ACGCAGGAAGGGACATCATCA	0.498000													30	90					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36660410	36660410	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:36660410C>T	ENST00000431169.1	-	9	979	c.679G>A	c.(679-681)Gat>Aat	p.D227N	AOAH_ENST00000535891.1_Missense_Mutation_p.D195N|AOAH_ENST00000258749.5_Missense_Mutation_p.D227N	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	227					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGTTTGAATCCTGATGGACA	0.403000													3	20					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823708	45823708	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:45823708G>A	ENST00000358525.4	-	2	244	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SLC6A20_ENST00000353278.4_Silent_p.F43F|SLC6A20_ENST00000456124.2_Silent_p.F43F	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	43					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			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)		AGGGGACCAGGAAACTACCTG	0.577000													11	46					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238865	121238865	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:121238865G>A	ENST00000297848.3	+	16	2134		c.e16-1		COL14A1_ENST00000537875.1_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCGGTTTACAGAGGAAGTTCC	0.468000													15	40					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012221	29012221	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:29012221A>T	ENST00000377175.1	-	1	796	c.732T>A	c.(730-732)caT>caA	p.H244Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTACAGTAAGATGAGATCCAC	0.428000													21	77					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782356	6782356	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:6782356C>T	ENST00000297436.2	-	2	327	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	96					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCAGCAGAATCTGTGGTTAAT	0.428000													12	63					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695514	170695514	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:170695514C>T	ENST00000239461.6	+	3	884	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	PRRX1_ENST00000367760.3_Missense_Mutation_p.L191F|PRRX1_ENST00000497230.2_Missense_Mutation_p.L191F|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	191						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)					CACCGATTATCTCTCCTGGGG	0.557000													24	65					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801254	185801254	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:185801254G>C	ENST00000302277.6	+	4	1725	c.1131G>C	c.(1129-1131)gaG>gaC	p.E377D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	377						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTACCACAGAGGAAAATGTTA	0.383000													9	32					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389511	38389511	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:38389511G>A	ENST00000390344.2	-	0	112																											CACTCAACAAGGAAGTGATCC	0.557000													4	0					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626678	44626678	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:44626678A>G	ENST00000332990.5	-	5	636	c.620T>C	c.(619-621)cTg>cCg	p.L207P		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	207						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCAGTAACCCAGCACGCTGGC	0.532000													3	10					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43171113	43171113	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:43171113C>T	ENST00000592782.1	+	5	577	c.446C>T	c.(445-447)cCc>cTc	p.P149L	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.P149L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	149					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CGCCAGGAGCCCTACACCCTG	0.617000													16	26					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131864772	131864772	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:131864772G>A	ENST00000318080.2	-	5	831	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	179					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCACTCGGCAGGAGGACAAGA	0.602000													88	230					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922545	43922545	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43922545C>T	ENST00000602198.1	+	8	1242	c.800C>T	c.(799-801)tCc>tTc	p.S267F	TEX101_ENST00000598265.1_Missense_Mutation_p.S249F|TEX101_ENST00000253435.7_Missense_Mutation_p.S267F|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	249						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTCACTTTTCCTAAGAAGGC	0.483000													15	43					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129663	48129663	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:48129663G>A	ENST00000244043.4	-	8	1189	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	387					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)	GCTCAGGAAGGGGAAGAGGAG	0.607000													24	70					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354359	77354359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:77354359G>A	ENST00000451710.3	-	34	5743	c.5506C>T	c.(5506-5508)Caa>Taa	p.Q1836*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1827*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1836*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.Q669*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.Q787*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1827*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1832*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1832	Alpha-type protein kinase.				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						CTTTGTTGTTGAATTTCCTAC	0.373000													22	38					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828156	57828156	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:57828156C>T	ENST00000371030.2	+	4	4151	c.4151C>T	c.(4150-4152)tCa>tTa	p.S1384L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1384						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)					GGTACAAGTTCAAGAATTGTC	0.468000													30	63					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156726369	156726369	+	Silent	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:156726369T>C	ENST00000264424.8	+	13	1906	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	GUCY1B3_ENST00000503520.1_Silent_p.N575N|GUCY1B3_ENST00000507146.1_Silent_p.N583N|GUCY1B3_ENST00000502959.1_Silent_p.N630N|GUCY1B3_ENST00000513437.1_Silent_p.N540N|GUCY1B3_ENST00000505764.1_Silent_p.N588N|GUCY1B3_ENST00000505154.1_Silent_p.N540N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	608					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CCAGAAAAAATACAGGAACAG	0.363000													7	12					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47126800	47126800	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:47126800G>A	ENST00000290341.3	+	15	2062	c.1728G>A	c.(1726-1728)agG>agA	p.R576R	IGF2BP1_ENST00000431824.2_Silent_p.R437R	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	576					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGCACGGAGGAAGTGACCAG	0.587000													10	28					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897917	175897917	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:175897917G>A	ENST00000359240.3	+	5	1911	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	ADAM29_ENST00000404450.4_Missense_Mutation_p.G414E|ADAM29_ENST00000445694.1_Missense_Mutation_p.G414E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G414E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	414	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGACTGTGGACCTTTAAAG	0.433000													15	73					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590913	172590913	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:172590913C>T	ENST00000231668.9	+	7	909	c.805C>T	c.(805-807)Cca>Tca	p.P269S	BNIP1_ENST00000393770.4_Missense_Mutation_p.P192S|BNIP1_ENST00000352523.6_Missense_Mutation_p.P235S|BNIP1_ENST00000351486.5_Missense_Mutation_p.P226S	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	226					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGCTCTTTCCATTTTTGTG	0.502000													25	58					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89498444	89498444	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:89498444G>A	ENST00000336596.2	+	14	2641	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D806N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	806	Protein kinase.		D -> N (in a colorectal cancer sample; somatic mutation).			extracellular region|integral to plasma membrane	ATP binding	p.D806N(1)		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)		GTCAGCCAGCGATGTATGGAG	0.443000										TSP Lung(6;0.00050)			38	88					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667824	106667824	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:106667824G>A	ENST00000390606.2	-	0	169																											AGAGTCTCAGGGACCCCCCAG	0.592000													41	83					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661717	4661717	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4661717C>T	ENST00000357605.2	+	1	773	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCATATATCCTCATCCTGTG	0.507000													14	44					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950591	7950591	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:7950591C>T	ENST00000380183.4	+	11	1612	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	ALOX15B_ENST00000572022.1_Intron|ALOX15B_ENST00000380173.2_Silent_p.I462I|ALOX15B_ENST00000573359.1_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	491	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTCTGAAATCATCGGTATCT	0.527000													29	69					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559857	44559857	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:44559857G>A	ENST00000332567.4	-	1	2131	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	593	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCTTCCTTGAAGTCCTGGA	0.507000													18	50					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642817	77642817	+	Silent	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:77642817A>G	ENST00000407578.2	-	70	12320	c.12054T>C	c.(12052-12054)tcT>tcC	p.S4018S	MYCBP2_ENST00000544440.2_Silent_p.S3980S|MYCBP2_ENST00000357337.6_Silent_p.S3980S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3980					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)		CTAAAACCATAGAGAGCAGCT	0.478000													14	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640343	179640343	+	Missense_Mutation	SNP	C	C	T	rs72647879		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179640343C>T	ENST00000589042.1	-	28	6472	c.6248G>A	c.(6247-6249)aGa>aAa	p.R2083K	TTN_ENST00000359218.5_Missense_Mutation_p.R2037K|TTN_ENST00000342992.6_Missense_Mutation_p.R2083K|TTN_ENST00000342175.6_Missense_Mutation_p.R2037K|TTN_ENST00000591111.1_Missense_Mutation_p.R2083K|TTN_ENST00000460472.2_Missense_Mutation_p.R2037K|TTN_ENST00000360870.5_Missense_Mutation_p.R2083K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1846	Ig-like 10.						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)			GCTCTGGATTCTTTCGAAGAT	0.458000													16	35					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320684	52320684	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:52320684T>C	ENST00000356297.4	-	17	3600	c.3500A>G	c.(3499-3501)aAc>aGc	p.N1167S	PXDNL_ENST00000543296.1_Missense_Mutation_p.N1167S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1167					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCTCAAAGTTCTTAACTGA	0.393000													16	39					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913629	158913629	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158913629G>A	ENST00000368140.1	+	6	1297	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	PYHIN1_ENST00000392254.2_Missense_Mutation_p.G351E|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G342E|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G342E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	351	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GATAAAACAGGAAGTATGGCT	0.368000													21	21					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27362641	27362641	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:27362641C>T	ENST00000521400.1	+	4	945	c.515C>T	c.(514-516)aCc>aTc	p.T172I	EPHX2_ENST00000518379.1_Missense_Mutation_p.T172I|EPHX2_ENST00000521780.1_Missense_Mutation_p.T106I|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.T119I|EPHX2_ENST00000520666.1_3'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	172	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CTGCTGGACACCCTGAAGGCC	0.498000													8	31					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338482	103338482	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:103338482C>T	ENST00000424685.2	-	10	1120	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	RELN_ENST00000343529.5_Missense_Mutation_p.G321R|RELN_ENST00000428762.1_Missense_Mutation_p.G321R			P78509	RELN_HUMAN	reelin	321					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)		ACATTCTCCCCTTTGGCGTCC	0.458000													49	103					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53454783	53454783	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:53454783C>T	ENST00000314250.6	+	20	3383	c.3093C>T	c.(3091-3093)ccC>ccT	p.P1031P	TENC1_ENST00000552570.1_Silent_p.P1031P|TENC1_ENST00000549700.1_Silent_p.P966P|TENC1_ENST00000314276.3_Silent_p.P1041P|TENC1_ENST00000546602.1_Silent_p.P934P|TENC1_ENST00000451358.1_Silent_p.P1021P|TENC1_ENST00000379902.3_Silent_p.P907P	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1031	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGGGTCTCCCCTCACTCCTG	0.687000													6	14					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527773	23527773	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:23527773C>T	ENST00000296682.3	+	11	2758	c.2576C>T	c.(2575-2577)cCc>cTc	p.P859L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	859					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCCCTACGTCTGC	0.597000										HNSCC(3;0.000094)			38	81					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667190	156667190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:156667190C>T	ENST00000422843.3	+	10	1122	c.970C>T	c.(970-972)Caa>Taa	p.Q324*		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	324	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAACTATCACCAACATAATGG	0.493000			T	SYK	peripheral T-cell lymphoma								16	36					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427168	38427168	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:38427168C>T	ENST00000322350.5	+	14	2214	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P389L|EGFLAM_ENST00000354891.3_Missense_Mutation_p.P623L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	623	Laminin G-like 2.					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)					GCTGCAACTCCCTGGCCACTG	0.483000													35	87					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419277	10419277	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10419277G>A	ENST00000226207.5	-	5	565	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	157	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCAGAGATGGAGAAGATGT	0.463000													47	106					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748471	19748471	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:19748471T>A	ENST00000222567.5	-	1	239	c.169A>T	c.(169-171)Atc>Ttc	p.I57F		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	57						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GACAGCGCGATGTGCCTTTGG	0.592000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	31					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315551	96315551	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:96315551C>T	ENST00000231368.5	+	2	1421	c.729C>T	c.(727-729)atC>atT	p.I243I	LNPEP_ENST00000395770.3_Silent_p.I229I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	243					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATGGACAGATCGCCATTGTTG	0.408000													22	28					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288960	107288960	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:107288960G>A	ENST00000277216.3	-	1	530	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTCGCATAAGAAATGATTAA	0.378000													26	62					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840491	160840491	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:160840491G>A	ENST00000283243.7	-	13	2337	c.2131C>T	c.(2131-2133)Cat>Tat	p.H711Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H711Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	711	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCCTCAATATGGGCAAAGCTT	0.318000													10	21					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901325	24901325	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:24901325C>T	ENST00000313367.2	-	10	1385	c.934G>A	c.(934-936)Gat>Aat	p.D312N	OSBPL3_ENST00000353930.1_Missense_Mutation_p.D312N|OSBPL3_ENST00000431825.2_Missense_Mutation_p.D281N|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D312N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D281N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D281N|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D281N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	312					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCTCCAAAATCTAGTGTTGAC	0.378000													24	56					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431448	153431448	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:153431448G>A	ENST00000368723.3	-	2	152	c.42C>T	c.(40-42)atC>atT	p.I14I	S100A7_ENST00000368722.1_Silent_p.I14I	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	14	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAACATGTCGATCATGCCTA	0.418000													59	72					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65571879	65571879	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:65571879G>A	ENST00000356388.4	-	2	367	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.H57Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	60	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CGTTCACCATGGATGAGAAAG	0.498000													9	16					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583291	148583291	+	Missense_Mutation	SNP	G	G	A	rs145828911		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:148583291G>A	ENST00000296046.3	+	2	152	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	34					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.E34*(1)|p.E34K(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCCCAGGATGAAAAACAAGC	0.383000													11	33					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40693026	40693026	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:40693026G>A	ENST00000298910.7	+	25	3521	c.3463G>A	c.(3463-3465)Gtg>Atg	p.V1155M	LRRK2_ENST00000343742.2_Missense_Mutation_p.V1155M	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1155					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTCCTAAAGTGGAGAGTTT	0.423000													28	74					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026062	103026062	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:103026062C>T	ENST00000375735.2	+	25	3720	c.3576C>T	c.(3574-3576)atC>atT	p.I1192I	DYNC2H1_ENST00000398093.3_Silent_p.I1192I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1192	Stem (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)		TGTAACAGATCGTAATTCCTA	0.338000													7	9					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10626014	10626014	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:10626014C>T	ENST00000547195.1	-	12	1908	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	MRVI1_ENST00000436272.1_Missense_Mutation_p.E534K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E552K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E553K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E355K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E246K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E470K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.E561K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E246K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E470K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E246K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E246K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	534					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGTTGCGTTCCCTTTCAGCC	0.468000													18	32					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9317805	9317805	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:9317805C>T	ENST00000378501.2	+	2	132	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLCB4_ENST00000378493.1_Silent_p.F39F|PLCB4_ENST00000278655.4_Silent_p.F39F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.F39F|PLCB4_ENST00000414679.2_Silent_p.F39F|PLCB4_ENST00000334005.3_Silent_p.F39F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	39					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.F39F(1)		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						ACTGCCTCTTCAAAGTGGATG	0.378000													21	40					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:21074810C>T	ENST00000377122.4	-	28	3307	c.2911G>A	c.(2911-2913)Gac>Aac	p.D971N	NEBL_ENST00000377159.4_Missense_Mutation_p.D193N|NEBL_ENST00000417816.2_Missense_Mutation_p.D227N	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	971	SH3.				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						GAGACCTCGTCTTCATCCTGG	0.498000													26	21					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177374	55177374	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55177374G>A	ENST00000391736.1	+	9	1181	c.866G>A	c.(865-867)aGg>aAg	p.R289K	LILRB4_ENST00000430952.2_Missense_Mutation_p.R289K|LILRB4_ENST00000391734.3_Missense_Mutation_p.R289K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R289K|LILRB4_ENST00000391733.3_Missense_Mutation_p.R289K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	289						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGAAAACACAGGACATTGGGT	0.572000													18	47					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321499	40321499	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:40321499T>C	ENST00000264661.3	-	9	1918	c.1586A>G	c.(1585-1587)aAc>aGc	p.N529S	KCNH4_ENST00000607371.1_Missense_Mutation_p.N529S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	529					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCTACCTCGTTGGCGTCGAT	0.637000													14	51					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535125	50535125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:50535125G>A	ENST00000267845.3	-	12	1723	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	HDC_ENST00000543581.1_Nonsense_Mutation_p.Q408*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	441					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AACTTGTCCTGGATAGTGGCC	0.443000													11	22					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21222689	21222689	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:21222689G>A	ENST00000574002.1	-	3	572	c.90C>T	c.(88-90)ttC>ttT	p.F30F	ZP2_ENST00000219593.4_Silent_p.F30F|ZP2_ENST00000574091.1_Silent_p.F30F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	30					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAAGGGCGAAGAAGAGAG	0.463000													34	80					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158525197	158525197	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:158525197C>T	ENST00000415822.2	+	5	673	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	MFSD1_ENST00000264266.8_Silent_p.L129L|MFSD1_ENST00000392813.4_Silent_p.L139L	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	129					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTTTTGCCCTGGGTGGAAT	0.274000													18	57					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418269	48418269	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:48418269C>T	ENST00000376771.4	+	6	1314	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	TBC1D25_ENST00000537536.1_Missense_Mutation_p.H71Y|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000481090.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	325	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCCGTTACCCACCCACAGGT	0.607000													9	10					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000210	47000210	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:47000210C>T	ENST00000374314.4	+	1	2285	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GPRIN2_ENST00000374317.1_Silent_p.L444L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	444										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGCAGTCCCTGCGGCGCCC	0.711000													3	4					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:74332991G>A	ENST00000377044.4	-	13	2811	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338000													22	39					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988446	70988446	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70988446G>A	ENST00000334414.6	-	6	1361	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	PTPRB_ENST00000550358.1_Silent_p.S439S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.S221S|PTPRB_ENST00000451516.2_Silent_p.S221S|PTPRB_ENST00000261266.5_Silent_p.S221S|PTPRB_ENST00000550857.1_Silent_p.S221S|PTPRB_ENST00000551525.1_Silent_p.S438S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	221	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGGGACCAGGAAATCAGGA	0.433000													14	26					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71692653	71692653	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:71692653G>A	ENST00000393524.2	-	12	2583	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P684L|PHLPP2_ENST00000360429.3_Missense_Mutation_p.P684L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P684L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P719L|RP11-432I5.6_ENST00000567077.1_RNA			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	684						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TATGGTTGTGGGAATGGTTTT	0.408000													29	67					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846478	123846478	+	Missense_Mutation	SNP	C	C	T	rs138712565	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:123846478C>T	ENST00000369005.1	+	4	4803	c.4463C>T	c.(4462-4464)gCt>gTt	p.A1488V	TACC2_ENST00000453444.2_Missense_Mutation_p.A1488V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A1488V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1488V|TACC2_ENST00000334433.3_Missense_Mutation_p.A1488V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1488						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)				TCCCATCTGGCTCTGCAAGAT	0.597000													13	26					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356893	2356893	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:2356893G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GGGATGACATGATCTTCCTGC	0.562000													48	98					0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578782	37578782	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:37578782G>A	ENST00000255836.6	-	1	63	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	C1QTNF6_ENST00000337843.2_Intron|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Intron|RP1-151B14.6_ENST00000419128.1_RNA			Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	127						collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCACCTGTGGGGATAAAAAGG	0.632000													3	16					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169670783	169670783	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:169670783G>A	ENST00000236147.4	-	7	1198	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	333					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GAATGAAGAGGGGGTTATAAT	0.398000													4	4					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56044518	56044518	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:56044518C>T	ENST00000288221.6	-	9	2134	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	627						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)		TTGACCTTCTCTTTCAGGTCT	0.403000													25	55					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790698	4790698	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4790698C>T	ENST00000380383.1	-	1	470	c.471G>A	c.(469-471)atG>atA	p.M157I	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.M150I|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	150						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGTGTAATCATCAGAAGAC	0.423000													21	39					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370718	240370718	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:240370718C>T	ENST00000319653.9	+	5	2836	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	869	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCTCCAGCTCCATGCCTGGC	0.577000													57	56					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944801	43944801	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:43944801C>T	ENST00000389420.3	-	2	363	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G122R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	122						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCGAGGGCCCTGCGTCGCTC	0.657000													10	8					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587401	110587401	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:110587401C>T	ENST00000399066.3	-	6	2444	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	SYBU_ENST00000424158.2_Missense_Mutation_p.E581K|SYBU_ENST00000532779.1_Missense_Mutation_p.E508K|SYBU_ENST00000533065.1_Missense_Mutation_p.E457K|SYBU_ENST00000433638.1_Missense_Mutation_p.E576K|SYBU_ENST00000422135.1_Missense_Mutation_p.E576K|SYBU_ENST00000533171.1_Missense_Mutation_p.E576K|SYBU_ENST00000276646.9_Missense_Mutation_p.E576K|SYBU_ENST00000408908.2_Missense_Mutation_p.E576K|SYBU_ENST00000529690.1_Missense_Mutation_p.E446K|SYBU_ENST00000533895.1_Missense_Mutation_p.E575K|SYBU_ENST00000528331.1_Missense_Mutation_p.E457K|SYBU_ENST00000408889.3_Missense_Mutation_p.E457K|SYBU_ENST00000440310.1_Missense_Mutation_p.E576K|SYBU_ENST00000446070.2_Missense_Mutation_p.E575K|SYBU_ENST00000528647.1_Missense_Mutation_p.E575K|SYBU_ENST00000529175.1_Missense_Mutation_p.E370K|SYBU_ENST00000419099.1_Missense_Mutation_p.E575K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	576						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAATCCAGCTCTCTCATGAGG	0.552000													23	58					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57088714	57088714	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:57088714C>T	ENST00000436936.1	+	25	3783	c.3558C>T	c.(3556-3558)acC>acT	p.T1186T	NLRC5_ENST00000262510.6_Silent_p.T1186T|NLRC5_ENST00000539144.1_Silent_p.T1186T|NLRC5_ENST00000308149.7_Silent_p.T1186T|RP11-322D14.2_ENST00000562970.1_RNA			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1186					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)				TGGCCAACACCTTAAGCCTGT	0.582000													65	164					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139205	154139205	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:154139205C>T	ENST00000389740.2	-	3	1345	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	416						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATAGTAATCTTCATGTGCT	0.318000													9	23					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806152	26806152	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:26806152G>A	ENST00000541819.2	-	9	1277	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	GABRB3_ENST00000400188.3_Missense_Mutation_p.P265L|GABRB3_ENST00000299267.4_Missense_Mutation_p.P336L|GABRB3_ENST00000311550.5_Missense_Mutation_p.P336L|GABRB3_ENST00000545868.1_Missense_Mutation_p.P251L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	336					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGCCTTTGAGGGCCTCTTCC	0.498000													28	52					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645929	19645929	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:19645929C>T	ENST00000555938.1	+	5	414	c.402C>T	c.(400-402)gtC>gtT	p.V134V	YJEFN3_ENST00000514277.3_Silent_p.V135V|YJEFN3_ENST00000436027.4_Silent_p.V85V																							TGGGGCTGGTCTGTGCCCGGC	0.627000													31	75					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181750591	181750591	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:181750591G>A	ENST00000526775.1	+	38	5404	c.5239G>A	c.(5239-5241)Gaa>Aaa	p.E1747K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1747K|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1766K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1373K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1717K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1766K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1766	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAGATGTATGAAATGCTGAC	0.562000													6	10					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584834	1584834	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:1584834G>A	ENST00000381297.4	-	2	828	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTGATCACGAACGGGATGA	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""								8	11					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044831	124044831	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:124044831C>T	ENST00000360013.3	+	7	1218	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	KALRN_ENST00000460856.1_Missense_Mutation_p.A364V|KALRN_ENST00000240874.3_Missense_Mutation_p.A364V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	364					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						TTCCAGAATGCCTATGTCAAC	0.527000													24	64					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89336529	89336529	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:89336529C>A	ENST00000338104.6	+	11	1136	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	TTC8_ENST00000346301.4_Missense_Mutation_p.L306I|TTC8_ENST00000380656.2_Missense_Mutation_p.L346I|TTC8_ENST00000536576.1_Missense_Mutation_p.L107I|TTC8_ENST00000345383.5_Missense_Mutation_p.L336I|TTC8_ENST00000354441.6_Missense_Mutation_p.L81I|TTC8_ENST00000358622.5_Missense_Mutation_p.L148I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	372					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGAAATAGCTCTCCGGTTTTA	0.353000													29	80					3.69857e-22	3.76442e-22	1	1	0
PTPRO	5800	broad.mit.edu	37	12	15704571	15704571	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:15704571A>C	ENST00000281171.4	+	15	2854	c.2524A>C	c.(2524-2526)Att>Ctt	p.I842L	PTPRO_ENST00000348962.2_Missense_Mutation_p.I842L|PTPRO_ENST00000442921.2_Missense_Mutation_p.I31L|PTPRO_ENST00000544244.1_Missense_Mutation_p.I31L|PTPRO_ENST00000445537.2_Missense_Mutation_p.I31L|PTPRO_ENST00000542557.1_Missense_Mutation_p.I31L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	842						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTTACCCTCATTATTCTTAG	0.348000													25	43					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					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)	TTTGAATAGCGAAACTAAAAA	0.378000													10	17					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176023960	176023960	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176023960G>A	ENST00000303991.4	-	2	3053	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	959	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			acgggcggcgggcggcggcgc	0.776000													12	12					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261893	21261893	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:21261893G>A	ENST00000311620.5	+	2	1079	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	336										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGACGATGAAGTGGAGTGGGA	0.527000													6	30					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:56436024C>T	ENST00000327381.5	+	3	1291	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000													40	132					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167630771	167630771	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:167630771G>A	ENST00000519204.1	+	17	3263	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TENM2_ENST00000518659.1_Missense_Mutation_p.E1170K|TENM2_ENST00000403607.2_Missense_Mutation_p.E994K|TENM2_ENST00000520394.1_Missense_Mutation_p.E938K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1170K					teneurin transmembrane protein 2																		TCAGGGATTCGAGCTGGACCC	0.502000													44	95					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537313	55537313	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:55537313G>A	ENST00000220676.1	+	4	1019	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	291					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)			TTGCTACTTAGACTATTCTTT	0.303000													8	37					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161520868	161520868	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:161520868G>A	ENST00000356592.3	+	2	602	c.142G>A	c.(142-144)Gat>Aat	p.D48N	GABRG2_ENST00000414552.2_Missense_Mutation_p.D48N|GABRG2_ENST00000361925.4_Missense_Mutation_p.D48N|GABRG2_ENST00000393933.4_5'UTR	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	48					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)		TGACTATGAAGATTATGCTTC	0.368000													19	31					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448756	10448756	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:10448756C>T	ENST00000245503.5	-	5	796	c.412G>A	c.(412-414)Gag>Aag	p.E138K	MYH2_ENST00000532183.1_Missense_Mutation_p.E138K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E138K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	138	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			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						GTCACCACCTCGGGCTTATAC	0.517000													41	89					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164748	139164748	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:139164748G>A	ENST00000395297.1	-	13	2140	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	657										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCTTTAGGGAAGACCTAAT	0.493000										HNSCC(54;0.14)			35	40					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059913	16059913	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:16059913C>T	ENST00000322107.1	+	1	96	c.96C>T	c.(94-96)taC>taT	p.Y32Y		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCCTGCTGTACCTCCTGATGT	0.483000													62	149					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419954	48419954	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:48419954C>T	ENST00000296438.5	+	6	739	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000436231.1_Missense_Mutation_p.P28S|FBXW12_ENST00000445170.1_Missense_Mutation_p.P166S	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	185										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGTTCTCCCCATGCCACA	0.488000													7	28					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180366104	180366104	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:180366104T>C	ENST00000273654.4	-	16	2082	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R	CCDC39_ENST00000442201.2_Missense_Mutation_p.K404R			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	404					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGAGCTTTCTTAAACAGCAC	0.323000													29	53					0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4652969	4652969	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:4652969C>T	ENST00000228843.9	+	3	158	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RAD51AP1_ENST00000352618.4_Silent_p.S36S|RAD51AP1_ENST00000321524.7_Silent_p.S36S|RAD51AP1_ENST00000544927.1_Silent_p.S36S|RAD51AP1_ENST00000543041.1_5'UTR	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	36					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ACAAGAAATCCAGAACAGCAC	0.303000													10	46					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173840	126173840	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:126173840G>A	ENST00000339582.2	-	9	2404	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	GRM8_ENST00000358373.3_Silent_p.V532V|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Silent_p.V532V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	532					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCAGCAAGGGACCCCTTTCA	0.547000										HNSCC(24;0.065)			20	51					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958704	51958704	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51958704G>A	ENST00000321424.3	-	4	1085	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S231F|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S247F	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	340	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGGCTCAGGGAAATGTGCTG	0.627000													12	26					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215986	140215986	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:140215986G>A	ENST00000525929.1	+	1	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G673D|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAGCGGCCAGGCACCA	0.657000													26	82					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685663	108685663	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:108685663C>T	ENST00000312143.7	-	3	1440	c.1077G>A	c.(1075-1077)atG>atA	p.M359I	CMKLR1_ENST00000412676.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000397688.2_Missense_Mutation_p.M357I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M357I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	359					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTCTCATTCATTGATGACA	0.502000													28	49					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711531	155711531	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:155711531G>A	ENST00000295101.2	+	3	1689	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	404					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTAAGCTGCAGAAAATTACTG	0.383000													28	64					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018554	88018554	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:88018554G>A	ENST00000504921.2	-	10	1961	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000437473.2_Missense_Mutation_p.S430L|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	430					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCCGTCGTACGAACTGCTACA	0.592000										HNSCC(66;0.2)			24	72					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506064	178506064	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:178506064C>T	ENST00000315475.6	+	5	937	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		CCAGATTTACCCAGGAGGAAA	0.363000													12	27					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376564	78376564	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:78376564G>A	ENST00000255192.3	+	4	379	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	105	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCTGGCAAAGGTGATGCTTT	0.458000													34	75					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001149	142001149	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:142001149G>A	ENST00000455382.2	+	0	315																											TGAAATATTCGATGATCAATT	0.408000													5	10					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63416778	63416778	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:63416778C>T	ENST00000394964.2	-	7	1606	c.1268G>A	c.(1267-1269)tGa>tAa	p.*423*	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000322893.7_Intron|KCNH5_ENST00000394968.1_Intron			Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	0					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGTTCGTTTTCATCCTATCTG	0.274000													8	7					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209911	65209911	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65209911C>T	ENST00000247226.7	+	15	3290	c.2982C>T	c.(2980-2982)gtC>gtT	p.V994V	PLEKHG3_ENST00000484731.2_Silent_p.V555V|PLEKHG3_ENST00000471182.2_Silent_p.V583V|PLEKHG3_ENST00000394691.1_Silent_p.V1050V|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1050					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCCGACGTCCGTGAGCTCT	0.731000													36	102					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449925	102449925	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:102449925C>T	ENST00000360184.4	+	7	1604	c.1440C>T	c.(1438-1440)atC>atT	p.I480I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	480	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGCTGTTATCGTCAGGGTCC	0.423000													6	20					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085440	3085440	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:3085440G>A	ENST00000572449.1	-	2	120	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CCDC64B_ENST00000389347.4_Missense_Mutation_p.P20S|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	20										breast(1)|endometrium(2)|large_intestine(1)	4						TCGCCGCTGGGAGAGGCGCCC	0.692000													20	34					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68925055	68925055	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:68925055C>T	ENST00000356291.2	-	9	1206	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	383	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTACATGCATCTATTTTTCCT	0.363000													7	11					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538240	113538240	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:113538240C>T	ENST00000374438.1	+	1	614	c.131C>T	c.(130-132)tCt>tTt	p.S44F	MUSK_ENST00000189978.5_Silent_p.L453L|MUSK_ENST00000374448.4_Silent_p.L453L|MUSK_ENST00000416899.2_Silent_p.L453L			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	0	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACTGCCACATCTAGGTAACAC	0.458000													38	100					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931501	23931501	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:23931501C>T	ENST00000331837.4	-	1	949	c.864G>A	c.(862-864)caG>caA	p.Q288Q		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	288	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGGCCAGGCCTGGGGGTCTT	0.597000									Prader-Willi syndrome				9	35					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748117	19748117	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:19748117C>A	ENST00000400113.3	-	5	1343	c.1239G>T	c.(1237-1239)atG>atT	p.M413I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	413					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCCCTCCTCCATGCCTTCTC	0.607000													52	112					8.44121e-28	8.61707e-28	1	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896891	48896891	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:48896891C>T	ENST00000394754.1	+	9	3235	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041W|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994W|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.R337W|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041W|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041W|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303W	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		994					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTAAGCATTCGGGTTACTGA	0.308000													30	51					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786797	121786797	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:121786797C>T	ENST00000261367.7	+	12	3824	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	SNCAIP_ENST00000414317.2_Missense_Mutation_p.S354L|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S692L|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S310L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S799L|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S752L|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S386L|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	752					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTCCCACCTCAGAGAGCAGC	0.557000													10	19					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627728	234627728	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:234627728G>A	ENST00000373409.3	+	1	305	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GACCCAGAAGGAATTTGATCG	0.453000													12	50					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48241495	48241495	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:48241495G>A	ENST00000400384.2	+	3	1629	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	MAPK4_ENST00000592595.1_Missense_Mutation_p.R198Q|MAPK4_ENST00000540640.1_5'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	198	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGTTCCCCACGACTGCTCCTT	0.502000													22	51					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:54140039C>T	ENST00000376650.1	+	3	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000													25	62					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55715062C>T	ENST00000379668.2	+	1	717	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	227					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						TTTGAGAATTCCTTCTACTAG	0.378000													10	29					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005421	74005421	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:74005421C>T	ENST00000301607.3	-	22	4118	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1311K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1289	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGAGCTGCTCCTGGGAGCGC	0.667000													89	105					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:185229341C>T	ENST00000296252.4	-	9	1380	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_ENST00000424591.2_Missense_Mutation_p.M379I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000													17	49					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702433	135702433	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:135702433G>A	ENST00000298545.3	-	8	1086	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	189						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						AAGGTGGTGTGATAAATCTCT	0.567000													48	79					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112234	55112234	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:55112234C>T	ENST00000453777.1	+	8	992	c.822C>T	c.(820-822)gtC>gtT	p.V274V	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.V474V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	474	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCTGGTGGTCCTCGGGATTC	0.562000													19	31					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003965	187003965	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:187003965C>T	ENST00000296795.2	+	4	1229	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	TLR3_ENST00000504367.1_Silent_p.F98F	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	375					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)		GCAATATGTTCACAGGATTGA	0.353000													8	19					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543523	182543523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182543523C>T	ENST00000295108.3	-	2	522	c.65G>A	c.(64-66)tGg>tAg	p.W22*	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	22					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCGTCTGTCCAGCTTGGAGG	0.547000													15	36					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135091	33135091	+	Nonsense_Mutation	SNP	G	G	A	rs150784358	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:33135091G>A	ENST00000341947.2	-	57	4353	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Q1329*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Q1355*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Q1290*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Q1316*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Q1350*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Q1269*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Q1295*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1376	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGGCCTTGCTGACCCTGAAGA	0.672000													11	45					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334270	158334270	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:158334270A>C	ENST00000404321.2	-	1	28	c.29T>G	c.(28-30)cTg>cGg	p.L10R	PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389418.4_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTCGGTTCTCAGCAGTGAATA	0.458000													25	40					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150692297	150692297	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:150692297G>A	ENST00000297494.3	+	3	522	c.165G>A	c.(163-165)ccG>ccA	p.P55P	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Silent_p.P55P|NOS3_ENST00000467517.1_Silent_p.P55P	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	55					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACAGCCCCCCGAGCTCCCCGC	0.632000													9	16					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207022	148207022	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:148207022G>A	ENST00000305988.4	+	1	867	c.628G>A	c.(628-630)Gtt>Att	p.V210I		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	210					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GTCCTTCTACGTTCCCCTGGT	0.527000													56	119					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635342	100635342	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr13:100635342A>C	ENST00000376335.3	+	1	1317	c.1024A>C	c.(1024-1026)Aaa>Caa	p.K342Q		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	342					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTGTGGCAAAGTCTTCGC	0.627000													24	52					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72866929	72866929	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:72866929G>A	ENST00000261180.4	+	5	1514	c.1418G>A	c.(1417-1419)gGt>gAt	p.G473D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	473					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						GAATTTGTTGGTACAGACTAC	0.423000													31	101					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995780	57995780	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:57995780G>A	ENST00000316770.2	-	1	610	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCAGGCGCAGGACGGGAGGC	0.612000													23	21					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52571742	52571742	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:52571742G>A	ENST00000261839.7	-	3	429	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	90	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGCAAAGCGGATTCTGAGG	0.512000													15	19					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939010	22939010	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:22939010G>A	ENST00000397104.3	-	8	3110	c.3111C>T	c.(3109-3111)ccC>ccT	p.P1037P						zinc finger protein 99									p.P1037P(1)		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)				CACATTTTTAGGGCTTCTCCC	0.348000													7	25					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615378	55615378	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55615378G>A	ENST00000326258.1	+	1	570	c.570G>A	c.(568-570)gtG>gtA	p.V190V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAGTCACAGTGGATACAACCA	0.448000													22	55					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108175612	108175612	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:108175612C>T	ENST00000273353.3	-	20	2255		c.e20+1		MYH15_ENST00000495753.2_Splice_Site	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							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						TGTAGGTTTACCTTTGTTTAA	0.443000													23	74					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712034	222712034	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:222712034G>A	ENST00000343410.6	-	5	1591	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	511					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGAGATTTGGGGATTCACAAC	0.438000													22	35					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096728	41096728	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:41096728C>T	ENST00000291842.5	+	17	1910	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.P596S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	621						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTGTCTCCCCAGCCCCTC	0.652000													28	66					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394323	233394323	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:233394323G>A	ENST00000258229.8	-	5	1519	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	429						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGATTACAGGAATTGAGATC	0.577000													73	82					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62985100	62985100	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:62985100C>T	ENST00000561311.1	+	12	1405	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	TLN2_ENST00000306829.6_Missense_Mutation_p.S392F			Q9Y4G6	TLN2_HUMAN	talin 2	392	FERM.|Interaction with PIP5K1C (By similarity).				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						GAGCAGATATCCCAGCTGATT	0.408000													27	37					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401593	77401593	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:77401593C>T	ENST00000282849.5	-	4	941	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	175					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						ATGAGGAATTCATTTTTTCGT	0.463000													20	43					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631287	179631287	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:179631287G>A	ENST00000444136.1	+	15	2621	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	TDRD5_ENST00000294848.8_Missense_Mutation_p.D737N|TDRD5_ENST00000367614.1_Missense_Mutation_p.D737N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	789					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACCATAGGTGATGATATTTG	0.423000													34	42					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552345	36552345	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:36552345C>T	ENST00000207457.3	+	5	656	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	177					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCGACCATCGGGGCAAAAT	0.572000													57	29					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815323	106815323	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:106815323G>A	ENST00000407775.2	+	8	3263	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E736K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E873K|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E873K|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1005					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)			CACTGACATCGAGCAAAGCAG	0.418000													5	32					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567351	5567351	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:5567351C>T	ENST00000315238.1	+	1	428	c.303C>T	c.(301-303)gtC>gtT	p.V101V	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	101	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						ACGGCTTCGTCAGCGCCGCCG	0.647000													16	9					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102423724	102423724	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:102423724G>A	ENST00000399004.2	-	8	1541	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	483					DNA integration		DNA binding	p.R483C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AATAGTTCACGATCCTTGCTT	0.363000													15	45					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:13830235G>A	ENST00000265104.4	-	37	6253	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2050	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome				13	25					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94039854	94039854	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:94039854C>T	ENST00000440961.2	+	2	358	c.314C>T	c.(313-315)cCc>cTc	p.P105L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	105						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACCTGGGGCCCTGGATCCAG	0.532000													13	47					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041410	42041410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:42041410C>T	ENST00000219905.7	+	17	5786	c.5605C>T	c.(5605-5607)Caa>Taa	p.Q1869*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1660*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1830*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1660*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q1869*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1830						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)		TCCTGTAATTCAAGCTGTTGG	0.488000													27	24					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801362	185801362	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:185801362G>A	ENST00000302277.6	+	4	1833	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	413						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATACATAAGAAAACAAATT	0.378000													29	50					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995360	15995360	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:15995360G>A	ENST00000268712.3	-	22	3090	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S	NCOR1_ENST00000395848.1_Missense_Mutation_p.P852S|NCOR1_ENST00000395851.1_Missense_Mutation_p.P961S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	945					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGTTACATGGGGTGCAGGAT	0.423000													17	49					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530623	110530623	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:110530623A>T	ENST00000378402.5	+	73	12021	c.11917A>T	c.(11917-11919)Atc>Ttc	p.I3973F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3973					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)			AAGTGACAAAATCCGTATCAG	0.373000										HNSCC(38;0.096)			19	68					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323035	124323035	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:124323035C>T	ENST00000409039.3	+	28	4606	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1527	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCCGTGATCAAGAGGTGCT	0.547000													7	11					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903464	62903464	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:62903464G>A	ENST00000512091.1	+	23	4150	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R	LPHN3_ENST00000514591.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1135R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGTATGGGAAATGCCT	0.398000													15	44					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863137	55863137	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55863137C>T	ENST00000327335.4	-	1	785	c.786G>A	c.(784-786)gcG>gcA	p.A262A	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_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CTCTTTCATTCGCTGATGGCT	0.388000													24	38					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409695	56409695	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:56409695A>T	ENST00000544374.1	-	1	252	c.224T>A	c.(223-225)tTt>tAt	p.F75Y	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F74Y			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGCATCTACAAAAGAGAGGCT	0.443000													14	31					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030052	95030052	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:95030052C>T	ENST00000557004.1	+	2	654	c.233C>T	c.(232-234)tCc>tTc	p.S78F	SERPINA4_ENST00000555095.1_Missense_Mutation_p.S78F|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S78F|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	78					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATCTTTTTCTCCCCGCTGAGC	0.617000													15	36					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900731	22900731	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:22900731G>A	ENST00000276431.4	-	2	454	c.170C>T	c.(169-171)aCc>aTc	p.T57I	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.T57I|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	57					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GTCTTGTTGGGTGATCAGAGC	0.567000													12	39					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296244	39296244	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:39296244G>A	ENST00000345847.4	-	1	495	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	162	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagcaggggcggcagcagcac	0.657000													5	29					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927521	53927521	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:53927521G>A	ENST00000263634.3	-	8	1259	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	ASB3_ENST00000406625.2_Silent_p.N410N|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Silent_p.N302N|GPR75-ASB3_ENST00000352846.3_Silent_p.N413N|GPR75-ASB3_ENST00000394717.2_Silent_p.N302N	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		410					intracellular signal transduction												CATATATATGGTTCCATGGTC	0.388000													16	52					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554649	34554649	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:34554649A>T	ENST00000373381.4	-	2	509	c.333T>A	c.(331-333)ttT>ttA	p.F111L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	71	CUB 1.					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)				CTTCCAGGGCAAAGGACTGGA	0.562000													29	24					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100938	184100938	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184100938G>A	ENST00000204604.1	+	10	1446	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	CHRD_ENST00000545352.1_Silent_p.R30R|CHRD_ENST00000348986.3_Silent_p.R400R|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.R400R	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	400	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGCTGCCAGGAAGAGCTGCG	0.662000													8	10					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149125	50149125	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:50149125G>A	ENST00000404971.1	-	24	5940	c.4601C>T	c.(4600-4602)tCc>tTc	p.S1534F	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1486F|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1486F|NRXN1_ENST00000342183.5_Missense_Mutation_p.S429F|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1494F|NRXN1_ENST00000401710.1_Missense_Mutation_p.S482F|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1464F|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1464F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1464					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S1535Y(1)|p.S429Y(1)|p.S1464Y(1)|p.S1534Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTGTTGGAGCTTTTCGC	0.393000													15	25					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924095	105924095	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:105924095G>A	ENST00000526793.1	-	3	1480	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	KBTBD3_ENST00000531837.1_Missense_Mutation_p.P441S|KBTBD3_ENST00000534815.1_Missense_Mutation_p.P362S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	437										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGCCTCTGGGTAATGGGCTA	0.388000													7	8					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720197	28720197	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:28720197G>A	ENST00000257197.3	-	10	1589	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	DSC1_ENST00000257198.5_Missense_Mutation_p.S443F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	443	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CGCTGCTTTAGAGAATTGTGC	0.398000													13	34					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789377	164789377	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:164789377G>A	ENST00000420696.2	+	7	1254	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	PBX1_ENST00000559240.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.D251N|PBX1_ENST00000540246.1_Missense_Mutation_p.D251N|PBX1_ENST00000540236.1_Missense_Mutation_p.D356N|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	356					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCAATGGGGATTCTTACCA	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								24	79					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165448	206165448	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:206165448G>A	ENST00000406610.2	+	17	2587	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.E732K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E794K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E794K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	794					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGACCTGAAGAAATAGAAGC	0.463000													19	39					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803473	23803473	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:23803473T>A	ENST00000264867.2	-	12	2292	c.2173A>T	c.(2173-2175)Acc>Tcc	p.T725S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	725	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCATCACAGGTATAACGGTAG	0.398000													13	25					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180408	124180408	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:124180408G>A	ENST00000357821.2	-	1	325	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCTTTCCTAGGAAGTTCACCA	0.473000													9	28					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:44670038G>A	ENST00000454036.1	+	8	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309R|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000													21	47					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726314	55726314	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55726314C>T	ENST00000379667.1	+	1	830	c.830C>T	c.(829-831)tCt>tTt	p.S277F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTCAATACATCTGTTGCCCCC	0.373000													15	41					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125670	58125670	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58125670C>T	ENST00000357377.3	-	1	872	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGTCTTTGTTCCTCAGGGTAT	0.378000													14	57					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409969	79409969	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:79409969C>T	ENST00000307745.7	+	9	1594	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S																								CAAGGAAGCCCCGGCCGGCCC	0.682000													20	23					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119419	55119419	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:55119419G>A	ENST00000414150.2	+	3	1098	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	MROH7_ENST00000395690.2_Missense_Mutation_p.E274K|MROH7_ENST00000339553.5_Missense_Mutation_p.E274K|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.E274K|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR					maestro heat-like repeat family member 7																		AAGTTCAAAGGAAACCATGAA	0.478000													38	18					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048209	102048209	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:102048209C>T	ENST00000318222.3	-	16	2744	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	PKD2L1_ENST00000353274.3_Silent_p.K759K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A713T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	788			A -> D (in dbSNP:rs12782963).		signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTCTAAGGCTTCCTCTTCT	0.483000													43	47					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434119	99434119	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:99434119C>T	ENST00000354829.2	+	2	218	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CYP3A43_ENST00000417625.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000421837.2_Missense_Mutation_p.P39S|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	39			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCTGGGAATTCCTGGGCCAAC	0.388000													15	25					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183658118	183658118	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:183658118G>A	ENST00000511685.1	+	17	3248	c.3125G>A	c.(3124-3126)gGa>gAa	p.G1042E	TENM3_ENST00000406950.2_Missense_Mutation_p.G1042E|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GCTGTAGTAGGAAGACTCTTC	0.388000													19	59					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410363	10410363	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:10410363G>A	ENST00000379613.3	-	2	513	c.257C>T	c.(256-258)cCc>cTc	p.P86L	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.P80L|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P78L|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P84L|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000379604.2_Missense_Mutation_p.P84L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	84	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGCGTGCAGGGGGTTCAGGCT	0.682000													39	114					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80303447	80303447	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:80303447C>T	ENST00000435819.1	+	17	2087	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	CD36_ENST00000432207.1_Missense_Mutation_p.S468L|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000394788.3_Missense_Mutation_p.S468L|CD36_ENST00000447544.2_Missense_Mutation_p.S468L|CD36_ENST00000433696.2_Missense_Mutation_p.S429L|CD36_ENST00000538969.1_Missense_Mutation_p.S408L|CD36_ENST00000309881.7_Missense_Mutation_p.S468L|CD36_ENST00000534394.1_Missense_Mutation_p.S392L			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	468					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GCATGCAGATCGAAAACAATA	0.294000													5	14					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335244	192335244	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:192335244C>T	ENST00000417209.2	+	5	623	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333000													7	32					0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578718	37578718	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:37578718G>A	ENST00000337843.2	-	3	422	c.347C>T	c.(346-348)cCc>cTc	p.P116L	C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.P116L|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	97	Collagen-like.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CTCCCCTTGGGGACCCTCCCT	0.657000													5	33					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719583	109719583	+	Missense_Mutation	SNP	G	G	A	rs140167217	by1000genomes	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:109719583G>A	ENST00000299162.5	-	9	1027	c.923C>T	c.(922-924)tCc>tTc	p.S308F	FOXN4_ENST00000355216.1_Missense_Mutation_p.S128F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	308					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						AGGCCGGTCGGAGATCAGCTT	0.662000													9	25					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048697	70048697	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:70048697G>A	ENST00000330891.5	-	10	2223	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L	BEST3_ENST00000553096.1_Missense_Mutation_p.S560L|BEST3_ENST00000488961.1_Missense_Mutation_p.S453L|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	666						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCATTTGGGTGATTCCTCAGT	0.468000													10	23					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:190067595C>T	ENST00000367462.3	-	8	2085	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W516*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		618						extracellular region		p.W618C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000													136	174					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129393	76129393	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:76129393C>T	ENST00000296677.4	+	2	1167	c.961C>T	c.(961-963)Cat>Tat	p.H321Y		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	321					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGGCCAGAGCCATGTCTATGC	0.468000													112	236					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270063	113270063	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:113270063G>A	ENST00000303941.3	+	8	1466	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	458							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617000													6	3					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53156081	53156081	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:53156081C>T	ENST00000376352.2	+	15	1547	c.1340C>T	c.(1339-1341)cCt>cTt	p.P447L	STXBP4_ENST00000434978.2_Missense_Mutation_p.P425L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	447						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATTCTACTCCTTTATCAAAT	0.284000													6	31					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3356928	3356928	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3356928G>A	ENST00000252032.9	-	4	372	c.305C>T	c.(304-306)tCg>tTg	p.S102L		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	102										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GACGCTATCCGATTTAATCAA	0.333000													7	22					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74756213	74756213	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:74756213G>A	ENST00000356924.4	-	14	1572	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	ABCD4_ENST00000298816.7_Missense_Mutation_p.P373S|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	477	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCCTTCAGGGGATATATCACC	0.552000													5	18					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122335903	122335903	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:122335903G>A	ENST00000464300.2	+	6	958	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Missense_Mutation_p.E64K|PARP15_ENST00000310366.4_Missense_Mutation_p.E64K	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	276	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			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)		CACAGCATATGAAATGAAAAT	0.418000													20	67					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212361	43212361	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:43212361G>A	ENST00000255226.6	+	5	1384	c.568G>A	c.(568-570)Gga>Aga	p.G190R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G190R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	190						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGCTGGTGGGACTGCTGAT	0.527000													33	79					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486451	125486451	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:125486451C>T	ENST00000259466.1	+	1	183	c.183C>T	c.(181-183)taC>taT	p.Y61Y		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCCTATGTACTTTTTTCTCA	0.448000													21	44					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753598	54753598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:54753598C>T	ENST00000356805.4	+	2	324	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	15	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTGAGATCCAGCAGCAGTA	0.512000													19	42					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39219262	39219262	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:39219262G>A	ENST00000333039.2	-	4	1227	c.1104C>T	c.(1102-1104)gcC>gcT	p.A368A		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	368	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GGGGCAGCTGGGCCACCTGGA	0.662000													10	32					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129049	3129049	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:3129049G>A	ENST00000380266.3	-	2	989	c.668C>T	c.(667-669)tCa>tTa	p.S223L	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	223					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATCTAGCATTGAATGGGAGTG	0.448000													19	32					0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831607	11831607	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:11831607C>T	ENST00000382209.2	-	2	75	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	26					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TTGACTCCATCATTCCCAAAC	0.483000													36	157					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812742	141812742	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:141812742G>A	ENST00000389484.3	-	10	2466	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	499					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)		CGACAAGTCCGAGTTTTGTAA	0.448000										TSP Lung(27;0.18)			14	37					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347595	70347595	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:70347595G>A	ENST00000558939.1	-	15	2757	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	TLE3_ENST00000442299.2_Silent_p.P452P|TLE3_ENST00000557997.1_Silent_p.P452P|TLE3_ENST00000539550.1_Silent_p.P387P|TLE3_ENST00000559191.1_Silent_p.P41P|TLE3_ENST00000558379.1_Silent_p.P455P|TLE3_ENST00000560589.1_Silent_p.P404P|TLE3_ENST00000317509.8_Silent_p.P448P|TLE3_ENST00000558201.1_Silent_p.P466P|TLE3_ENST00000559048.1_Silent_p.P460P|TLE3_ENST00000559929.1_Silent_p.P470P|TLE3_ENST00000557907.1_Silent_p.P452P|TLE3_ENST00000451782.2_Silent_p.P457P|TLE3_ENST00000440567.3_Silent_p.P450P|TLE3_ENST00000560939.1_Silent_p.P462P			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	460					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGGGCACGGGCTGCATCT	0.642000													23	41					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054122	46054122	+	Silent	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:46054122T>C	ENST00000536708.2	+	9	1027	c.918T>C	c.(916-918)acT>acC	p.T306T	CDK5RAP3_ENST00000338399.4_Silent_p.T281T	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	281					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTGAGGGGACTGACTCTGGCA	0.537000													15	59					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774002	151774002	+	Silent	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:151774002C>A	ENST00000368820.3	-	2	2116	c.1179G>T	c.(1177-1179)ggG>ggT	p.G393G		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	393	LRRCT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGCTCTTCCCCTGGACAT	0.627000													52	39					6.08268e-21	6.18486e-21	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108925960	108925960	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:108925960A>T	ENST00000340800.2	-	5	1021	c.517T>A	c.(517-519)Tac>Aac	p.Y173N	ACSL4_ENST00000348502.6_Missense_Mutation_p.Y132N|ACSL4_ENST00000469796.2_Missense_Mutation_p.Y173N	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	173					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GGAAAGTTGTACTTAAAGCAG	0.468000													51	15					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490658	25490658	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:25490658G>A	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						TTGTCCTGAAGAGAGGTGATG	0.498000													69	239					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021332	96021332	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:96021332C>T	ENST00000297954.4	+	11	2502	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	WNK2_ENST00000349097.3_Silent_p.F446F|WNK2_ENST00000427277.2_Silent_p.F446F|WNK2_ENST00000395475.2_Silent_p.F768F|WNK2_ENST00000395477.2_Silent_p.F834F|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	834					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						CTCAGTATTTCTCTCCAGCCG	0.711000													19	42					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624517	123624517	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123624517G>A	ENST00000327930.2	-	1	736	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		GGCACAGGTAGAGAAAGTCTT	0.463000													20	54					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897537	72897537	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:72897537G>A	ENST00000308744.6	+	0	17					NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2						detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCCAAGTAATGGTGATACTGA	0.438000													3	10					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713470	40713470	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:40713470G>A	ENST00000373198.3	-	30	4289	c.4054C>T	c.(4054-4056)Cgt>Tgt	p.R1352C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1320C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1330C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1333C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1329C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1339C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1340C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1330	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGACTATACGATAACCATCC	0.587000													11	37					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747713	75747713	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:75747713C>T	ENST00000303562.4	+	4	938	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FOS_ENST00000535987.1_Silent_p.L207L|FOS_ENST00000555686.1_Silent_p.L129L|FOS_ENST00000555347.1_Silent_p.L95L	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	243					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCCTGCCTCTCCTCAATGACC	0.587000													34	61					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49539516	49539516	+	Silent	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:49539516T>G	ENST00000301407.7	-	2	158	c.54A>C	c.(52-54)gcA>gcC	p.A18A	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Silent_p.A18A	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	50						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCTCCTTGGATGCCCATGTCC	0.657000													28	61					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335775	90335775	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:90335775G>A	ENST00000300060.6	-	17	2581	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	756	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTGCTGATGGCATTAACCT	0.572000													7	25					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178307	39178307	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:39178307C>T	ENST00000297668.6	-	5	662	c.589G>A	c.(589-591)Gat>Aat	p.D197N	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D197N|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D197N|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D109N|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D197N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	197	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTTTTATCAAGTCTATAC	0.318000													13	74					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70852705	70852705	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:70852705G>A	ENST00000322773.4	+	23	1721	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G162E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	540	Triple-helical region 3 (COL3).				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						GGACCGCCAGGAGATGTTGTA	0.358000													11	33					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:114177625C>T	ENST00000393081.1	+	14	1547	c.1240C>T	c.(1240-1242)Cgt>Tgt	p.R414C	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414C|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196C|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414C|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414C|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470C	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000													30	29					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47912473	47912473	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:47912473G>A	ENST00000426837.2	-	15	6211	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W	MAP4_ENST00000264724.11_Missense_Mutation_p.R632W|MAP4_ENST00000383737.4_Missense_Mutation_p.R625W|MAP4_ENST00000395734.3_Missense_Mutation_p.R897W|MAP4_ENST00000360240.6_Missense_Mutation_p.R897W|MAP4_ENST00000420772.2_Missense_Mutation_p.R628W|MAP4_ENST00000441748.2_Missense_Mutation_p.R49W			P27816	MAP4_HUMAN	microtubule-associated protein 4	897					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTGGAGGGCCGGGAGGGCATG	0.632000													32	54					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299012	37299012	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:37299012G>A	ENST00000231498.3	-	32	3954	c.3751C>T	c.(3751-3753)Ctt>Ttt	p.L1251F	NUP155_ENST00000513532.1_Missense_Mutation_p.L1187F|NUP155_ENST00000381843.2_Missense_Mutation_p.L1192F|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1251					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTGCCAAGGAGAACAATC	0.418000													6	16					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705124	2705124	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:2705124C>T	ENST00000399655.1	+	20	3013	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	CACNA1C_ENST00000399601.1_Silent_p.S916S|CACNA1C_ENST00000399637.1_Silent_p.S916S|CACNA1C_ENST00000344100.3_Silent_p.S916S|CACNA1C_ENST00000399617.1_Silent_p.S916S|CACNA1C_ENST00000399595.1_Silent_p.S916S|CACNA1C_ENST00000335762.5_Silent_p.S941S|CACNA1C_ENST00000399638.1_Silent_p.S916S|CACNA1C_ENST00000402845.3_Silent_p.S916S|CACNA1C_ENST00000399641.1_Silent_p.S916S|CACNA1C_ENST00000399591.1_Silent_p.S916S|CACNA1C_ENST00000399597.1_Silent_p.S916S|CACNA1C_ENST00000399649.1_Silent_p.S916S|CACNA1C_ENST00000399644.1_Silent_p.S916S|CACNA1C_ENST00000406454.3_Silent_p.S916S|CACNA1C_ENST00000399606.1_Silent_p.S916S|CACNA1C_ENST00000480911.1_Silent_p.S916S|CACNA1C_ENST00000347598.4_Silent_p.S916S|CACNA1C_ENST00000399603.1_Silent_p.S916S|CACNA1C_ENST00000399621.1_Silent_p.S916S|CACNA1C_ENST00000399629.1_Silent_p.S916S|CACNA1C_ENST00000327702.7_Silent_p.S916S|CACNA1C_ENST00000399634.1_Silent_p.S916S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	916					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAGCATTTCCCTGGCTGCTG	0.582000													20	49					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048738	238048738	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:238048738G>A	ENST00000366570.4	-	8	1271	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	371	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P371P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCAGTGCTGGGTGTTGCCC	0.537000													35	41					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808018	8808018	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:8808018G>A	ENST00000324436.3	-	1	1154	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	345						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGTGAAGAGCGAGGACCCACC	0.657000													9	49					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674005	4674005	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:4674005A>T	ENST00000396952.5	+	2	899	c.249A>T	c.(247-249)aaA>aaT	p.K83N	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGCCCAAAATGCTGGCCA	0.473000													19	29					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284312	159284312	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:159284312G>A	ENST00000332217.5	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TAATGGTCATGATAATCACAT	0.468000													44	150					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368358	45368358	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:45368358C>A	ENST00000560629.1	+	9	1129	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	ITGB3_ENST00000571680.1_Silent_p.L388L|ITGB3_ENST00000559488.1_Silent_p.L388L|ITGB3_ENST00000435993.2_Silent_p.L341L			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGCGTGACCTCCCTGAAGAGT	0.478000													43	73					4.0181e-32	4.10588e-32	1	1	0
MKL1	57591	broad.mit.edu	37	22	40814536	40814536	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:40814536G>A	ENST00000396617.3	-	12	2496	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	MKL1_ENST00000407029.1_Missense_Mutation_p.P636S|MKL1_ENST00000355630.3_Missense_Mutation_p.P636S|MKL1_ENST00000402042.1_Missense_Mutation_p.P586S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	636	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGGGGGGCGGGGACCGGCTCG	0.687000			T	RBM15	acute megakaryocytic leukemia								15	44					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086605	100086605	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100086605G>A	ENST00000423930.1	+	4	1420	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	NYAP1_ENST00000454988.1_Missense_Mutation_p.E364K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E421K			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	421	Pro-rich.																GCCCCGGGGGGAGCGGGAGCT	0.756000													5	23					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094417	79094417	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:79094417G>A	ENST00000326724.4	-	11	3343	c.3319C>T	c.(3319-3321)Ccg>Tcg	p.P1107S	AATK_ENST00000417379.1_Missense_Mutation_p.P1004S	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1107	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GATCTCAGCGGAACCGGGGTC	0.692000													6	6					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115348085	115348085	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:115348085G>A	ENST00000357872.4	+	15	2386	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		754					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACCTATTAAAGAGACTTAATT	0.284000													6	50					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455580	189455580	+	Silent	SNP	C	C	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:189455580C>A	ENST00000264731.3	+	2	203	c.114C>A	c.(112-114)tcC>tcA	p.S38S	TP63_ENST00000418709.2_Silent_p.S38S|TP63_ENST00000382063.4_Silent_p.S38S|TP63_ENST00000440651.2_Silent_p.S38S|TP63_ENST00000392460.3_Silent_p.S38S|TP63_ENST00000320472.5_Silent_p.S38S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	38	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTACCGATCCACCATGTCCC	0.368000										HNSCC(45;0.13)			12	53					0.00244969	0.00245208	1	1	0
MSMO1	6307	broad.mit.edu	37	4	166263024	166263024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:166263024C>T	ENST00000261507.6	+	6	981	c.808C>T	c.(808-810)Cga>Tga	p.R270*	MSMO1_ENST00000393766.2_Nonsense_Mutation_p.R139*	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	270					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGTGGGATCGAATTTTTGG	0.373000													14	36					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071657	63071657	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:63071657C>T	ENST00000332793.6	+	8	1365	c.1363C>T	c.(1363-1365)Cac>Tac	p.H455Y	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.F253F	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	455						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTTGCTGTTCACTTCATTGA	0.463000													32	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599205	179599205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179599205G>A	ENST00000589042.1	-	52	15570	c.15346C>T	c.(15346-15348)Cga>Tga	p.R5116*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3872*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R4799*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4799	Ig-like 31.						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)			TTACTACTTCGAATTTGTTTC	0.383000													27	55					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53468988	53468988	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:53468988T>G	ENST00000301463.4	-	4	348	c.262A>C	c.(262-264)Agt>Cgt	p.S88R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.S125R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	88	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGACTCCACTGTCCACAATA	0.567000													38	73					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873915	144873915	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:144873915G>A	ENST00000369359.4	-	34	5488	c.5450C>T	c.(5449-5451)cCc>cTc	p.P1817L	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1681L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1681					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTATTCTGGGGAGTTGGCAA	0.517000			T	PDGFRB	MPD								98	302					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763773	92763773	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:92763773C>T	ENST00000318238.4	-	5	2728	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	SAMD9L_ENST00000411955.1_Silent_p.L504L|SAMD9L_ENST00000437805.1_Silent_p.L504L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	504										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)			TCTCGCTTTTCAGGTCTGATC	0.373000													22	68					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084518	53084518	+	Silent	SNP	C	C	A	rs149814559		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:53084518C>A	ENST00000276480.7	-	10	1586	c.903G>T	c.(901-903)ggG>ggT	p.G301G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTTAAATTCCCCTTGGCCT	0.527000													54	36					1.11015e-26	1.13215e-26	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158596788	158596788	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:158596788C>T	ENST00000368148.3	-	41	5854	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K	SPTA1_ENST00000368147.3_Splice_Site_p.E1889_splice|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1892					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACTTTCCTCCTGCAACACC	0.428000													41	61					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518614	41518614	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:41518614C>T	ENST00000324071.4	+	8	1195	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	CYP2B6_ENST00000593831.1_Silent_p.L160L|CYP2B6_ENST00000330446.5_Silent_p.L196L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	396					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCACTGCTCTCCATGACCCAC	0.468000													50	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474255	179474255	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179474255C>T	ENST00000589042.1	-	273	52006	c.51782G>A	c.(51781-51783)cGa>cAa	p.R17261Q	TTN_ENST00000359218.5_Missense_Mutation_p.R8321Q|TTN_ENST00000342992.6_Missense_Mutation_p.R14693Q|TTN_ENST00000342175.6_Missense_Mutation_p.R8388Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15620Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8196Q|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15620	Fibronectin type-III 25.						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)			TTCATCACCTCGTTTCACTTC	0.348000													26	71					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777913	27777913	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:27777913G>A	ENST00000333743.6	+	10	1544	c.1290G>A	c.(1288-1290)agG>agA	p.R430R	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	430					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GATCCTGGAGGAAAGGGCGTA	0.483000													12	14					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976468	36976468	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:36976468G>A	ENST00000282516.8	+	9	1958	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E487K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	487					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCAGCTATTGAAAGGGAGCG	0.348000													16	45					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1253899	1253899	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:1253899G>A	ENST00000310581.5	-	16	3400	c.3343C>T	c.(3343-3345)Ctg>Ttg	p.L1115L	TERT_ENST00000334602.6_Silent_p.L1052L|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1115	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCGGCCTCCAGGGCAGTCAGC	0.662000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				10	16					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902191	37902191	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:37902191C>T	ENST00000309156.4	+	13	1553	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	GRB7_ENST00000394211.3_Silent_p.F432F|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000445327.2_Silent_p.F455F|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394209.2_Silent_p.F432F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	432	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACTCTGGTTCCACGGGCGCA	0.612000													65	190					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61994716	61994716	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:61994716G>A	ENST00000323322.5	-	5	649	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	GH1_ENST00000342364.4_Silent_p.L108L|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Silent_p.L163L|GH1_ENST00000458650.2_Silent_p.L188L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	203					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						ACGATGCGCAGGAATGTCTCG	0.592000													33	45					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968689	106968689	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:106968689C>T	ENST00000369066.3	+	2	2869	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	794							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCTTCAAGTCCCTGCACACCA	0.473000													5	19					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58792147	58792147	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:58792147C>T	ENST00000295966.7	-	14	1961	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	C3orf67_ENST00000482387.1_Missense_Mutation_p.M612I	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	491										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AAGGTGGGTTCATTTCTTTCT	0.343000													15	33					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44067858	44067858	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr22:44067858G>A	ENST00000262726.7	-	15	1888	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	EFCAB6_ENST00000396231.2_Silent_p.F393F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTACTTTATGAAATGTGCAT	0.343000													13	36					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762472	92762472	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:92762472G>A	ENST00000318238.4	-	5	4029	c.2813C>T	c.(2812-2814)tCa>tTa	p.S938L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S938L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S938L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	938										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)			CTGTGAAACTGAAATTGTAGA	0.393000													8	17					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106021	186106021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:186106021C>T	ENST00000271588.4	+	87	13763	c.13534C>T	c.(13534-13536)Cga>Tga	p.R4512*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R4512*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4512	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4512R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGTTGCTCGAAACTTAAT	0.428000													62	85					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617439	28617439	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:28617439G>A	ENST00000395609.1	-	9	1471	c.713C>T	c.(712-714)aCc>aTc	p.T238I	SULT1A1_ENST00000569554.1_Missense_Mutation_p.T238I|SULT1A1_ENST00000350842.4_Missense_Mutation_p.T160I|SULT1A1_ENST00000395607.1_Missense_Mutation_p.T238I|SULT1A1_ENST00000314752.7_Missense_Mutation_p.T238I			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	238					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTGTAGTTGGTCATAGGGTT	0.592000													37	145					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730265	15730265	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:15730265C>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCCTCTATTCCTCTCCATGGA	0.532000													5	16					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30944142	30944142	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:30944142G>A	ENST00000597505.1	-	22	3040	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F	DCDC1_ENST00000339794.5_Missense_Mutation_p.S93F|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGAGCAATGGACAGGTCAGG	0.373000													9	10					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168910	142168910	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:142168910G>A	ENST00000454561.2	-	0	135																											AGAGCCGAGTGAATTCTGGGC	0.582000													5	8					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292831	91292831	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:91292831C>T	ENST00000355112.3	+	3	451	c.333C>T	c.(331-333)ttC>ttT	p.F111F	BLM_ENST00000560509.1_Silent_p.F111F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	111					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCCAGATTTCTTGCAGACTC	0.418000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				21	38					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63125822	63125822	+	Silent	SNP	A	A	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr15:63125822A>G	ENST00000561311.1	+	54	7352	c.7122A>G	c.(7120-7122)caA>caG	p.Q2374Q	RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Silent_p.Q2374Q			Q9Y4G6	TLN2_HUMAN	talin 2	2374	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						TGGTGGCCCAAGGAAAGGTGG	0.567000													31	51					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111730611	111730611	+	Splice_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:111730611G>A	ENST00000393917.2	+	4	909	c.355_splice	c.e4-1	p.G119_splice	TAGLN3_ENST00000273368.4_Splice_Site_p.G119_splice|TAGLN3_ENST00000455401.2_Splice_Site_p.G119_splice|TAGLN3_ENST00000486460.1_Splice_Site_p.G35_splice|TAGLN3_ENST00000478951.1_Splice_Site_p.G119_splice	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	119	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GGCTTCCAGGGAAGGACATGG	0.547000													14	22					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30915203	30915203	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:30915203C>T	ENST00000265299.6	+	15	1980	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.L98F	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	635										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCACACTTCTCAGAGGCAT	0.488000													40	83					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534791	6534791	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:6534791C>T	ENST00000245817.3	+	3	517	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	160					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GGCTCAGGCTCCGTTTCACTT	0.657000													7	4					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3851045	3851045	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:3851045C>T	ENST00000309890.7	-	8	885	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.E245E|ATP2A3_ENST00000352011.3_Silent_p.E245E|ATP2A3_ENST00000359983.3_Silent_p.E245E|ATP2A3_ENST00000397043.3_Silent_p.E245E|ATP2A3_ENST00000397035.3_Silent_p.E245E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	245					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGGCGTCCGCTCGGGCTCGA	0.657000													13	33					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726260	55726260	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:55726260C>T	ENST00000379667.1	+	1	776	c.776C>T	c.(775-777)cCa>cTa	p.P259L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TATGCTAATCCATCTGCAAAA	0.398000													13	26					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310722	61310722	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61310722G>A	ENST00000341074.5	-	2	205	c.90C>T	c.(88-90)tcC>tcT	p.S30S	SERPINB4_ENST00000356424.6_Silent_p.S30S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCTGATAGGGGAATAGAAGA	0.418000													28	66					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238577	48238577	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:48238577C>T	ENST00000309562.2	+	1	234	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGTTATTCCTCCACTATCG	0.453000													36	99					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491381	42491381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:42491381G>A	ENST00000398675.3	-	7	1256	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GXYLT1_ENST00000280876.6_Nonsense_Mutation_p.R311*	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	342					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGATCTGGTCGATAATTCCAT	0.368000													18	44					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101109875	101109875	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:101109875G>A	ENST00000369162.2	-	16	2854	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	837	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCAACAAAGGAGCCTCTTTT	0.348000													19	32					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233375	43233375	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:43233375G>A	ENST00000327495.5	-	5	1327	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG3_ENST00000595140.1_Silent_p.I381I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	381	Ig-like C2-type 3.			Missing (in Ref. 9).	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)				TAATCTGGGGGATAAAGAGCT	0.458000													47	186					0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379594	133379594	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chrX:133379594G>A	ENST00000517294.1	+	3	1147	c.764G>A	c.(763-765)gGa>gAa	p.G255E	CCDC160_ENST00000370809.4_Missense_Mutation_p.G255E			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	255										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACCGAGGTTGGAAATGTGCTC	0.393000													6	3					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547339	78547339	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:78547339G>A	ENST00000545128.1	+	2	775	c.237G>A	c.(235-237)acG>acA	p.T79T	PCSK5_ENST00000376752.4_Silent_p.T79T|PCSK5_ENST00000376767.3_Silent_p.T79T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	79					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATAGCAGGACGATTAAAAGGT	0.453000													27	53					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365780	97365780	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:97365780C>T	ENST00000415431.1	-	8	1129	c.900G>A	c.(898-900)aaG>aaA	p.K300K	FBP1_ENST00000375326.4_Silent_p.K300K	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	300					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ACACGGCCTCCTTCCCAGTGG	0.587000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	41					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248617030	248617030	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:248617030C>T	ENST00000342927.3	+	1	954	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AGATGTGGTTCCTCCCAGAGC	0.542000													11	37					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365779	97365779	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:97365779C>T	ENST00000415431.1	-	8	1130	c.901G>A	c.(901-903)Gag>Aag	p.E301K	FBP1_ENST00000375326.4_Missense_Mutation_p.E301K	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	301					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AACACGGCCTCCTTCCCAGTG	0.582000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	41					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089914	10089914	+	Splice_Site	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10089914C>T	ENST00000264828.3	-	39	2853	c.2766_splice	c.e39-1	p.G923_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	923	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)			TCCTGTCTTTCCCTGGTGAGG	0.592000													10	38					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171225	68171225	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:68171225A>T	ENST00000243457.3	+	2	428	c.45A>T	c.(43-45)gaA>gaT	p.E15D	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E15D	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	15					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCTCTTCAGAAGAAGACGGTA	0.522000													31	31					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93713600	93713600	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:93713600C>T	ENST00000265990.6	+	6	979	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	224					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAACAGAGATCCAGGGATGCA	0.398000													34	39					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225094	40225094	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:40225094C>T	ENST00000221804.4	-	3	207	c.132G>A	c.(130-132)atG>atA	p.M44I		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	44	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATTCCTCCTTCATCTCAGTGT	0.512000													31	65					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306458	61306458	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:61306458C>T	ENST00000341074.5	-	7	844	c.729G>A	c.(727-729)atG>atA	p.M243I	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GCAGCACAATCATGCTTAGAT	0.423000													15	68					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241932	65241932	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65241932C>T	ENST00000389722.3	-	22	4806	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K	SPTB_ENST00000542895.1_Missense_Mutation_p.E1585K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1585K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1585K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1585K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1585					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCTGTGCCTCGTTGGCGTCC	0.657000													22	52					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:99690398G>A	ENST00000524871.1	+	4	469	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_ENST00000527185.1_Missense_Mutation_p.G60E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G60E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G60E|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	60					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)		CCTTCATTAGGAACACTGAGT	0.433000													6	39					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265532	22265532	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:22265532C>T	ENST00000390430.2	+	0	74																											CAGCCACTTTCCTACTGGCCC	0.498000													3	6					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063087	54063087	+	Silent	SNP	T	T	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:54063087T>A	ENST00000338662.5	-	4	1409	c.204A>T	c.(202-204)tcA>tcT	p.S68S	ATP5G2_ENST00000549164.1_Silent_p.S52S|ATP5G2_ENST00000602871.1_Silent_p.S52S|ATP5G2_ENST00000394349.3_Silent_p.S109S	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	52					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TAGAGACAAGTGAGGTAAGGG	0.502000													12	25					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176700722	176700722	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:176700722G>A	ENST00000439151.2	+	17	5604	c.5559G>A	c.(5557-5559)gaG>gaA	p.E1853E	NSD1_ENST00000347982.4_Silent_p.E1584E|NSD1_ENST00000354179.4_Silent_p.E1584E|NSD1_ENST00000361032.4_Silent_p.E1750E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1853					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAAAAAGAGCTAAGACAGC	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	64					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43275470	43275470	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:43275470C>T	ENST00000372569.3	-	4	212	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	CRIP3_ENST00000274990.4_Missense_Mutation_p.G70S|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	70						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCTACACCACCAATGTTCACC	0.617000													32	41					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58491919	58491919	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:58491919G>A	ENST00000344743.3	-	2	192	c.51C>T	c.(49-51)tcC>tcT	p.S17S	GLYAT_ENST00000278400.3_Silent_p.S17S|GLYAT_ENST00000529732.1_Silent_p.S17S	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTTCCTCAAGGATTTCTCCA	0.448000													15	41					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642712	85642712	+	Silent	SNP	A	A	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:85642712A>T	ENST00000322366.6	-	46	7811	c.7404T>A	c.(7402-7404)ccT>ccA	p.P2468P	WDFY3_ENST00000295888.4_Silent_p.P2485P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2485						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTTAGAGGAGGCTTGACCA	0.493000													8	36					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													4	105					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407251	75407251	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:75407251G>A	ENST00000297784.5	+	17	2089	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	TMC1_ENST00000340019.3_Missense_Mutation_p.E517K|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.E517K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	517					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCTTGCTGGGAAACAATGGT	0.413000													40	105					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846195	230846195	+	Silent	SNP	G	G	A	rs11557885		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:230846195G>A	ENST00000366667.4	-	2	616	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	134					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCGTTGGGGAGAGGACGGTGG	0.597000													39	121					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950472	68950472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:68950472G>T	ENST00000288368.4	+	7	1061	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	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	262	PH.				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						AAATATTCAAGAACGGGTGTT	0.393000													11	37					0.000673444	0.000674756	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432737	117432737	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:117432737G>A	ENST00000160373.3	-	4	604	c.513C>T	c.(511-513)gtC>gtT	p.V171V	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	171										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCAGCATCAGGACCACCTGCT	0.522000													11	49					0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	111127313	111127313	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:111127313C>T	ENST00000405709.2	-	3	662	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	IMMP2L_ENST00000331762.3_Missense_Mutation_p.G74S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.G74S|IMMP2L_ENST00000452895.1_Missense_Mutation_p.G74S|IMMP2L_ENST00000437687.1_Missense_Mutation_p.G74S|IMMP2L_ENST00000447215.1_Missense_Mutation_p.G74S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	74					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ACAATGTCACCACGGTGTACT	0.363000													17	56					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419066	88419066	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:88419066C>T	ENST00000372071.2	+	6	901	c.674C>T	c.(673-675)cCc>cTc	p.P225L	OPN4_ENST00000241891.5_Missense_Mutation_p.P214L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	214					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCTACGTGCCCGAGGGGTTG	0.622000													26	31					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr11:123516298G>A	ENST00000392770.2	-	2	1018	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_ENST00000530277.1_Silent_p.F72F|SCN3B_ENST00000299333.3_Silent_p.F72F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000													34	84					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					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)			CACTGGAATTCGTGTTGGACA	0.323000													23	45					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546521	35546521	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:35546521G>A	ENST00000455600.1	+	2	572	c.3G>A	c.(1-3)atG>atA	p.M1I	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCAGAATGGATAGTCCCC	0.567000													27	57					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38931480	38931480	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:38931480C>T	ENST00000355481.4	+	2	272	c.141C>T	c.(139-141)ttC>ttT	p.F47F	RYR1_ENST00000360985.3_Silent_p.F47F|RYR1_ENST00000359596.3_Silent_p.F47F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	47					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCTGTGCTTCCTGGAGCCCA	0.652000													9	11					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:33806727C>T	ENST00000260908.7	-	2	619	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000													7	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588771	179588771	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:179588771G>A	ENST00000589042.1	-	73	21439	c.21215C>T	c.(21214-21216)cCt>cTt	p.P7072L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5828L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6755L|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6755	Ig-like 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)			AACTGAAATAGGTGATGATCC	0.433000													9	20					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670352	10670352	+	Silent	SNP	G	G	A	rs139920982		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:10670352G>A	ENST00000312962.6	-	11	997	c.978C>T	c.(976-978)tcC>tcT	p.S326S	KRI1_ENST00000361821.5_Silent_p.S322S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	326	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TACGGCGCACGGAGGACGCGA	0.622000													24	31					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320791	320791	+	Missense_Mutation	SNP	C	C	T	rs149964951	byFrequency	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr16:320791C>T	ENST00000397770.3	-	14	1036	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	RGS11_ENST00000316163.5_Missense_Mutation_p.R319Q|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.R329Q			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	340	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGCTCCATATCGAAGCTCCTC	0.667000													6	13					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204466	56204466	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:56204466G>A	ENST00000361673.3	-	5	3166	c.2953C>T	c.(2953-2955)Cct>Tct	p.P985S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	985							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTCCCAAGGAAAACTCACA	0.473000													20	50					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539796	169539796	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:169539796C>T	ENST00000340806.6	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	29										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAACATTTTTCATTGATGCCT	0.343000													14	43					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33680544	33680544	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:33680544C>T	ENST00000252015.2	-	1	130	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R14Q|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R14Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	14	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGTCTCCCTCGGCCGGCTCC	0.721000													9	10					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270651	84270651	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:84270651G>A	ENST00000428679.2	-	27	3051	c.2458C>T	c.(2458-2460)Cca>Tca	p.P820S	SNAP91_ENST00000439399.2_Missense_Mutation_p.P820S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P820S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P790S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P815S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P820S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P815S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P513S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P513S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	820	Pro-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)		GAACTGGTTGGAGGTACAGCT	0.428000													9	17					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789870	26789870	+	Missense_Mutation	SNP	C	C	T	rs138851282	by1000genomes	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:26789870C>T	ENST00000376236.4	+	5	738	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	APBB1IP_ENST00000356785.4_Missense_Mutation_p.H95Y	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	95					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						GAATCAACATCATTCAGCATC	0.453000													35	32					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134360378	134360378	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr9:134360378C>T	ENST00000357304.4	+	24	5664	c.5609C>T	c.(5608-5610)cCg>cTg	p.P1870L	PRRC2B_ENST00000405995.1_Missense_Mutation_p.P1176L|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P1176L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1870							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCAGTTTGCCGGAGCAGAGC	0.607000													4	14					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920824	105920824	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr10:105920824A>C	ENST00000357060.3	-	27	3626	c.3511T>G	c.(3511-3513)Tta>Gta	p.L1171V	WDR96_ENST00000428666.1_Missense_Mutation_p.L1172V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1171										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						TCTTCATTTAACTCCTTTACT	0.323000													9	7					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48375068	48375068	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:48375068C>T	ENST00000435803.1	+	28	10073	c.10049C>T	c.(10048-10050)aCa>aTa	p.T3350I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3350					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATCAGAAACACTGCTGGAA	0.418000													8	27					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448892	99448892	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:99448892C>T	ENST00000397899.2	-	5	790	c.459G>A	c.(457-459)atG>atA	p.M153I	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CCTCAGAGCTCATGCCGGCAT	0.572000													23	47					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158267040	158267040	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:158267040G>A	ENST00000313708.6	-	7	915	c.633C>T	c.(631-633)ttC>ttT	p.F211F	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.F188F|EBF1_ENST00000517373.1_Silent_p.F211F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	211					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCACCTGGAATCTCCGCA	0.383000			T	HMGA2	lipoma								29	25					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50735304	50735304	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:50735304G>A	ENST00000440075.2	+	10	1138	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	MYH14_ENST00000598205.1_Missense_Mutation_p.G364E|MYH14_ENST00000596571.1_Missense_Mutation_p.G356E|MYH14_ENST00000425460.1_Missense_Mutation_p.G364E|MYH14_ENST00000376970.2_Missense_Mutation_p.G356E|MYH14_ENST00000262269.8_Missense_Mutation_p.G364E|MYH14_ENST00000601313.1_Missense_Mutation_p.G364E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	356	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGTCCTGGGATTCAGCCAC	0.657000													19	37					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681867	69681867	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:69681867G>A	ENST00000265403.7	+	1	157	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	UGT2B10_ENST00000458688.2_Missense_Mutation_p.E44K	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	44					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATCCTGAAAGAACTTGTTCA	0.428000													29	80					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182414389	182414389	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:182414389C>T	ENST00000410087.3	-	6	967	c.867G>A	c.(865-867)gtG>gtA	p.V289V	CERKL_ENST00000409440.3_Silent_p.V271V|CERKL_ENST00000374969.2_Silent_p.V176V|CERKL_ENST00000374970.2_Silent_p.V220V|CERKL_ENST00000339098.5_Silent_p.V315V|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	315	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCAGTTATCACATGAGGAA	0.333000													13	31					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955670	51955670	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:51955670C>T	ENST00000321424.3	-	7	1529	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R379K|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R395K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	488					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTGTGATTCCTCAAACAGGC	0.542000													19	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047904	9047904	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr19:9047904C>T	ENST00000397910.4	-	5	33930	c.33727G>A	c.(33727-33729)Ggg>Agg	p.G11243R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11245	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						GCTTCTGTCCCAGGATGAGCG	0.478000													4	16					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100389633	100389633	+	RNA	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100389633C>T	ENST00000542585.1	+	0	7720				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCTGGGCCTCCGCACGGGCC	0.672000													10	32					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045168	184045168	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184045168C>T	ENST00000342981.4	+	23	4010	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	EIF4G1_ENST00000350481.5_Missense_Mutation_p.P1034L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P1035L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1205L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1205L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1198L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P1198L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1111L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P1003L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1205L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1112L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1159L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1158L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P1002L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1198					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)			AGAGAACGGCCCTCCCAGCCT	0.662000													21	50					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806779	46806779	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:46806779G>A	ENST00000230588.4	+	14	2156	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	716					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)			CAGGTGCACGGCAGTGTCCTG	0.582000													80	106					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684045	77684045	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:77684045G>A	ENST00000461745.1	+	24	4685	c.3785G>A	c.(3784-3786)aGa>aAa	p.R1262K	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1278K|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1323K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1262					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCTCTCAAAGACCTCGACCT	0.458000													26	85					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721336	183721336	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:183721336G>A	ENST00000511685.1	+	28	8055	c.7932G>A	c.(7930-7932)gaG>gaA	p.E2644E	TENM3_ENST00000406950.2_Silent_p.E2644E					teneurin transmembrane protein 3																		GCGACGGCGAGGAGGGCGCGC	0.736000													4	8					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252590	46252590	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr4:46252590T>G	ENST00000510861.1	-	10	1264	c.1091A>C	c.(1090-1092)aAc>aCc	p.N364T	GABRA2_ENST00000507069.1_Missense_Mutation_p.N424T|GABRA2_ENST00000540012.1_Missense_Mutation_p.N369T|GABRA2_ENST00000381620.4_Missense_Mutation_p.N364T|GABRA2_ENST00000356504.1_Missense_Mutation_p.N364T|GABRA2_ENST00000514090.1_Missense_Mutation_p.N364T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	364					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAAGCGTTGTTCTGTATCAT	0.408000													23	49					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058294	43058294	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr20:43058294G>A	ENST00000316099.3	+	10	1503	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	HNF4A_ENST00000457232.1_Missense_Mutation_p.E440K|HNF4A_ENST00000415691.1_Missense_Mutation_p.E462K	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	472					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACCAAGCAGGAAGTTATCTA	0.632000													30	84					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321352	141321352	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr8:141321352G>A	ENST00000389328.4	-	10	1925	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	TRAPPC9_ENST00000389327.3_Silent_p.I530I|TRAPPC9_ENST00000438773.2_Silent_p.I539I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	539					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTCACCTGACGATGGGAAGCT	0.582000													13	39					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687920	30687920	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:30687920C>T	ENST00000394670.4	+	5	654	c.485C>T	c.(484-486)cCa>cTa	p.P162L	ZNF207_ENST00000577908.1_Missense_Mutation_p.P162L|ZNF207_ENST00000394673.2_Missense_Mutation_p.P162L|ZNF207_ENST00000342555.6_Missense_Mutation_p.P165L|ZNF207_ENST00000341711.6_Missense_Mutation_p.P63L|ZNF207_ENST00000321233.6_Missense_Mutation_p.P162L	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCATACCTCCATTAATGCCA	0.388000													9	30					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854290	40854290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:40854290C>T	ENST00000255224.3	-	2	472	c.104G>A	c.(103-105)tGg>tAg	p.W35*	SYT4_ENST00000590752.1_Nonsense_Mutation_p.W17*|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	35						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ACAGCAGATCCATGCAAAGAG	0.403000													6	18					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117635465	117635465	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:117635465C>T	ENST00000369466.3	+	18	2962	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	973					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCCACTGTTTCCCTTAACGGC	0.483000													51	43					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121894	90121894	+	RNA	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr2:90121894G>A	ENST00000483379.1	+	0	293																											TGCATCTGTAGGAGACAGAGT	0.458000													44	116					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202223	22202223	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:22202223G>A	ENST00000374695.3	-	25	3280	c.3201C>T	c.(3199-3201)ccC>ccT	p.P1067P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1067	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCCATCGGGCCGCTGCC	0.652000													77	47					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66255090	66255090	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr5:66255090G>A	ENST00000405643.1	+	1	393	c.15G>A	c.(13-15)cgG>cgA	p.R5R	MAST4_ENST00000407621.1_Silent_p.R5R|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000490016.2_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1094						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGCCCAGCGGGAAAGGCTAC	0.483000													11	18					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406324	67406324	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr18:67406324G>A	ENST00000382713.5	+	6	913	c.723G>A	c.(721-723)atG>atA	p.M241I		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	241							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGCTAGAAATGGAACAGAAGG	0.448000													24	65					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449566	91449566	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:91449566G>C	ENST00000266719.3	-	2	740	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	165					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTTCTCCAGATTGCTAAAG	0.403000													33	78					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6037039	6037039	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:6037039G>A	ENST00000265849.7	-	7	826	c.721C>T	c.(721-723)Cct>Tct	p.P241S	PMS2_ENST00000441476.2_Missense_Mutation_p.P135S|PMS2_ENST00000382321.4_Missense_Mutation_p.P241S|PMS2_ENST00000406569.3_Missense_Mutation_p.P241S|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	241					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGAACAAAAGGAATGAGGCTT	0.378000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	17					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44459631	44459631	+	Silent	SNP	C	C	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:44459631C>T	ENST00000372318.3	+	5	663	c.492C>T	c.(490-492)caC>caT	p.H164H	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	164										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCCAGACACCTGAGGTGAG	0.547000													9	7					0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3935326	3935326	+	Silent	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr12:3935326G>A	ENST00000228820.4	-	4	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	PARP11_ENST00000397096.2_Silent_p.F107F|PARP11_ENST00000447133.3_Silent_p.F33F|PARP11_ENST00000427057.2_Silent_p.F33F	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	107							NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TACCATACCTGAAAGCACTGA	0.348000													27	67					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281204	100281204	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr7:100281204G>A	ENST00000275732.5	-	17	3230	c.2021C>T	c.(2020-2022)cCa>cTa	p.P674L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	674										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTAGAATTGGACCCTGAGT	0.617000													45	135					0	0	1	0	0
LINC01359	101927084	broad.mit.edu	37	1	65451793	65451793	+	RNA	DEL	T	T	-	rs113756498		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr1:65451793delT	ENST00000447748.1	-	0	1775																											AATCTAATTGttttttttttt	0.493													4	9	---	---	---	---					
MAGEF1	64110	broad.mit.edu	37	3	184429168	184429181	+	Frame_Shift_Del	DEL	TGTTGATCAGGATG	TGTTGATCAGGATG	-	rs140315160		TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr3:184429168_184429181delTGTTGATCAGGATG	ENST00000317897.3	-	1	655_668	c.429_442delCATCCTGATCAACA	c.(427-444)taaafs	p.YILINK143fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	143	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GGTTTTAGTTTGTTGATCAGGATGTAAGTGTGGT	0.500													8	63	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													3	5	---	---	---	---					
KCNQ5	56479	broad.mit.edu	37	6	73331984	73331986	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr6:73331984_73331986delGCG	ENST00000342056.2	+	1	465_467	c.67_69delGCG	c.(67-69)del	p.A27del	KCNQ5_ENST00000414165.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000402622.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000370392.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000370398.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000355635.3_In_Frame_Del_p.A27del|KCNQ5_ENST00000355194.4_In_Frame_Del_p.A27del|KCNQ5_ENST00000403813.2_In_Frame_Del_p.A27del	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	27					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAgcggcgcagcggcggcggcgg	0.783													3	6	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57508365	57508365	+	RNA	DEL	A	A	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:57508365delA	ENST00000554725.1	+	0	344																											CCTTACCATGAAAAGTTCGTT	0.458													21	37	---	---	---	---					
PLEKHG3	26030	broad.mit.edu	37	14	65210301	65210301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr14:65210301delC	ENST00000247226.7	+	15	3680	c.3372delC	c.(3370-3372)ttfs	p.F1124fs	PLEKHG3_ENST00000471182.2_Frame_Shift_Del_p.F713fs|PLEKHG3_ENST00000394691.1_Frame_Shift_Del_p.F1180fs|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Frame_Shift_Del_p.F685fs	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1180					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCAGGACTTCCAGCAGTCTG	0.642													17	30	---	---	---	---					
USP32P2	220594	broad.mit.edu	37	17	18431578	18431579	+	RNA	INS	-	-	T			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:18431578_18431579insT	ENST00000425211.1	-	0	1497																											TGACCTCGGGCTTTTTTTTTCT	0.441													2	4	---	---	---	---					
GPR179	440435	broad.mit.edu	37	17	36483957	36483967	+	Frame_Shift_Del	DEL	TCCAATCCCTT	TCCAATCCCTT	-			TCGA-RP-A694-06A-11D-A30X-08	TCGA-RP-A694-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e2318e-c749-4385-af74-5ee5da4af1e5	3d23721f-eeb1-4de5-bc47-161a866cb95f	g.chr17:36483957_36483967delTCCAATCCCTT	ENST00000342292.4	-	11	5505_5515	c.5485_5495delAAGGGATTGGA	c.(5485-5496)cfs	p.KGLD1829fs	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1829						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCTTTTGGTCCAATCCCTTCCCAGTAGTT	0.521													63	89	---	---	---	---