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
NHS	4810	broad.mit.edu	37	X	17744466	17744466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:17744466G>A	ENST00000380060.3	+	6	2515	c.2177G>A	c.(2176-2178)aGc>aAc	p.S726N	NHS_ENST00000398097.3_Missense_Mutation_p.S570N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	726						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGGCAGACAGCCTGGGCTGC	0.512000													71	106					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41089548	41089548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:41089548C>T	ENST00000291842.5	+	12	1139	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	SHKBP1_ENST00000600733.1_Missense_Mutation_p.L339F	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	364						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)			CAACGACCTCCTTGTCAGCGA	0.617000													118	173					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079915	5079915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5079915C>T	ENST00000321522.2	-	1	942	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TCTTCCTTTTCCATTCCTTGT	0.343000													31	53					0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219385019	219385019	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:219385019G>A	ENST00000366928.5	+	5	710	c.663G>A	c.(661-663)ttG>ttA	p.L221L	LYPLAL1_ENST00000366927.3_Silent_p.L205L|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	221						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TAGACATATTGAAGTTATGGA	0.328000													64	116					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595823	31595823	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:31595823C>T	ENST00000376033.2	+	12	1806	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V	PRRC2A_ENST00000376007.4_Silent_p.V524V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	524	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACCTGCAGTCCCTAAAGAAC	0.602000													48	277					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233954	84233954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:84233954G>A	ENST00000536636.1	+	3	1139	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	PRSS35_ENST00000369700.3_Missense_Mutation_p.R265Q	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGCTGGGCACGAGGAGGCATG	0.532000													39	10					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483346	17483346	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:17483346C>T	ENST00000302539.4	-	5	731	c.606G>A	c.(604-606)agG>agA	p.R202R	ABCC8_ENST00000389817.3_Silent_p.R202R	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	202					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)	GCTTCACCTCCCTCGGTGTCT	0.577000													39	37					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244613	171244613	+	Silent	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:171244613T>A	ENST00000354841.4	+	3	581	c.450T>A	c.(448-450)ctT>ctA	p.L150L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.L150L|FMO1_ENST00000402921.2_Silent_p.L87L			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	150					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGCTTTCTTACTAATCCTT	0.448000													86	115					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500526	48500526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:48500526C>T	ENST00000417961.1	+	14	1672	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	SLC9A8_ENST00000539601.1_Missense_Mutation_p.R253C|SLC9A8_ENST00000361573.2_Missense_Mutation_p.R472C|SLC9A8_ENST00000541138.1_Missense_Mutation_p.R172C	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	472						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GCCCCTCATTCGCCTCATGGA	0.602000													105	115					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479832	228479832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:228479832G>A	ENST00000570156.2	+	44	11934	c.11860G>A	c.(11860-11862)Gag>Aag	p.E3954K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E644K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E644K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3525K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2372K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3525K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2992	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCGGGCAGGAGAGGACCTC	0.592000													146	125					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349588	150349588	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150349588C>T	ENST00000218316.3	+	2	1602	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	511	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTACCAGCCATGCTGAGC	0.612000													199	160					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452995	48452995	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48452995C>T	ENST00000393271.2	+	2	508	c.426C>T	c.(424-426)atC>atT	p.I142I	EME1_ENST00000338165.4_Silent_p.I142I|EME1_ENST00000511648.2_Silent_p.I142I	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	142					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTCCAAAGATCCCTGAAGTTC	0.473000								Direct reversal of damage;Homologous recombination					66	89					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766040	25766040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:25766040G>A	ENST00000520164.1	-	7	1120	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q47*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	195					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			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)		AAACAATTCTGATTGCACTTG	0.378000													29	8					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849374	106849374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:106849374C>T	ENST00000526355.1	-	3	926	c.458G>A	c.(457-459)gGa>gAa	p.G153E	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G153E|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G153E	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	153					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGAAGAATTCCTGAGACATC	0.363000													29	36					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944267	121944267	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121944267G>A	ENST00000442488.2	-	1	292	c.225C>T	c.(223-225)atC>atT	p.I75I	FEZF1_ENST00000427185.2_Silent_p.I75I|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Silent_p.I75I	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	75					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCACGAAGGGGATCATGCAGG	0.687000													53	13					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31611742	31611742	+	Missense_Mutation	SNP	C	C	T	rs139174342		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:31611742C>T	ENST00000319386.3	+	6	1328	c.335C>T	c.(334-336)cCc>cTc	p.P112L	CCDC129_ENST00000409210.1_Missense_Mutation_p.P20L|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.P138L|CCDC129_ENST00000407970.3_Missense_Mutation_p.P112L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	112										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCAGAAACTCCCATCCTATCC	0.388000													8	20					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81196149	81196149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:81196149G>A	ENST00000312465.7	+	2	668	c.442G>A	c.(442-444)Gga>Aga	p.G148R	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	148					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTCAAAAAAAGGAAAACTCCA	0.328000													16	34					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942943	52942943	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:52942943C>T	ENST00000354452.3	-	10	1307	c.696G>A	c.(694-696)ggG>ggA	p.G232G	TCF4_ENST00000564403.2_Silent_p.G238G|TCF4_ENST00000398339.1_Silent_p.G334G|TCF4_ENST00000540999.1_Silent_p.G208G|TCF4_ENST00000566279.1_Silent_p.G172G|TCF4_ENST00000457482.3_Silent_p.G72G|TCF4_ENST00000564999.1_Silent_p.G232G|TCF4_ENST00000570177.2_Silent_p.G102G|TCF4_ENST00000564228.1_Silent_p.G161G|TCF4_ENST00000537578.1_Silent_p.G208G|TCF4_ENST00000356073.4_Silent_p.G232G|TCF4_ENST00000544241.2_Silent_p.G161G|TCF4_ENST00000537856.3_Silent_p.G102G|TCF4_ENST00000543082.1_Silent_p.G190G|TCF4_ENST00000561831.3_Silent_p.G72G|TCF4_ENST00000568673.1_Silent_p.G208G|TCF4_ENST00000570287.2_Silent_p.G72G|TCF4_ENST00000567880.1_Silent_p.G172G|TCF4_ENST00000565018.2_Silent_p.G232G|TCF4_ENST00000561992.1_Silent_p.G102G|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000568740.1_Silent_p.G207G|TCF4_ENST00000566286.1_Silent_p.G230G	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	232					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTGATTCATCCCACTGGAGG	0.493000													156	233					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161969922	161969922	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:161969922C>T	ENST00000294794.3	-	5	1353	c.930G>A	c.(928-930)gaG>gaA	p.E310E	OLFML2B_ENST00000367940.2_Silent_p.E311E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	310										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAATGTCATTCTCTTCTTCAG	0.602000													64	98					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367306	105367306	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:105367306A>G	ENST00000297581.2	+	3	1280	c.1231A>G	c.(1231-1233)Agc>Ggc	p.S411G	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTTCTACCCCAGCGTGGAGAG	0.448000													91	115					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197098447	197098447	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:197098447C>A	ENST00000367409.4	-	9	2886	c.2629_splice	c.e9-1	p.G877_splice	ASPM_ENST00000367408.1_Splice_Site_p.G127_splice|ASPM_ENST00000294732.7_Splice_Site_p.G877_splice	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	877					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTCATGACCTTAAATAAA	0.279000													62	45					5.02462e-34	5.08958e-34	1	1	0
MB21D2	151963	broad.mit.edu	37	3	192516621	192516621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:192516621G>A	ENST00000392452.2	-	2	1350	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	344										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGTTGGCAGGAAGTCTGTCG	0.532000													42	46					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630564	140630564	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:140630564G>A	ENST00000520439.1	-	2	1125	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	KCNK9_ENST00000303015.1_Silent_p.I354I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	354						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACCCAGGAGAGATGGAGCTAA	0.502000													174	128					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343405	122343405	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:122343405C>T	ENST00000261369.4	+	7	656	c.471C>T	c.(469-471)gtC>gtT	p.V157V	SNX24_ENST00000395451.4_Silent_p.V190V|SNX24_ENST00000513881.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	157					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TTGAAGGAGTCCTCCATGGGA	0.328000													85	133					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796437	69796437	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69796437C>T	ENST00000251566.4	-	5	1161	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	UGT2A3_ENST00000420231.2_Silent_p.G88G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	377						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCATAGATCCCATTCATTC	0.393000													35	35					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57929945	57929945	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57929945G>T	ENST00000574161.1	+	9	1105	c.986G>T	c.(985-987)gGg>gTg	p.G329V	GCOM1_ENST00000380561.2_Missense_Mutation_p.G298V|GCOM1_ENST00000396180.1_Missense_Mutation_p.G298V|MYZAP_ENST00000267853.5_Missense_Mutation_p.G329V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.G329V|GCOM1_ENST00000572390.1_Missense_Mutation_p.G329V|MYZAP_ENST00000380565.4_Missense_Mutation_p.G329V|GCOM1_ENST00000380560.2_Missense_Mutation_p.G260V|GCOM1_ENST00000587652.1_Missense_Mutation_p.G329V|GCOM1_ENST00000380568.3_Missense_Mutation_p.G329V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		329					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAAATGTCTGGGGAGTTAACT	0.378000													17	16					6.94344e-10	6.97524e-10	1	1	0
REG1A	5967	broad.mit.edu	37	2	79350013	79350013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:79350013C>T	ENST00000233735.1	+	5	471	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	123	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCCTACAAGTCCTGGGGCATT	0.547000													81	129					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969445	5969445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:5969445G>A	ENST00000284898.6	-	18	1788	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P530S|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P521S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P334S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	530					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCCACGCCTGGAAGCAACTTG	0.647000													87	119					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409052	4409052	+	Silent	SNP	G	G	A	rs149961693		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:4409052G>A	ENST00000261254.3	+	5	1016	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	249					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCAGGAGCAGATTGAGGCGG	0.527000			T	IGL@	"""NHL,CLL"""								61	62					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45869047	45869047	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:45869047G>A	ENST00000443527.2	+	1	91	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	2	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAGTCATggcggcgactgtgg	0.721000													20	14					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39243877	39243877	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:39243877C>T	ENST00000518318.2	+	3	276	c.234C>T	c.(232-234)gaC>gaT	p.D78D	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.D78D|POU6F2_ENST00000559001.1_Silent_p.D70D			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	78					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCACTCCTGACCAACACCAGG	0.498000													29	54					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44091429	44091429	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:44091429A>G	ENST00000494774.1	+	3	161	c.139_splice	c.e3-1	p.E47_splice	DBNL_ENST00000490734.2_Intron|DBNL_ENST00000456905.1_Splice_Site_p.E47_splice|DBNL_ENST00000448521.1_Splice_Site_p.E47_splice|DBNL_ENST00000452943.1_Splice_Site_p.E47_splice|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Splice_Site_p.E47_splice|DBNL_ENST00000440166.1_Intron	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	47	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TCTGCTGCAGAGGGTGGCCTG	0.597000													52	48					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649781	136649781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:136649781G>A	ENST00000287538.5	+	1	1481	c.931G>A	c.(931-933)Gcg>Acg	p.A311T	ZIC3_ENST00000370606.3_Missense_Mutation_p.A311T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	311	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTCAAGGCGAAGTACAA	0.607000													106	176					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077360	179077360	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:179077360G>A	ENST00000502732.1	-	12	3245	c.3042C>T	c.(3040-3042)tcC>tcT	p.S1014S	ABL2_ENST00000504405.1_Silent_p.S875S|ABL2_ENST00000507173.1_Silent_p.S890S|ABL2_ENST00000512653.1_Silent_p.S999S|ABL2_ENST00000367623.4_Silent_p.S993S|ABL2_ENST00000408940.3_Silent_p.S978S|ABL2_ENST00000344730.3_Silent_p.S896S|ABL2_ENST00000511413.1_Silent_p.S911S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1014	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTCTGATGTGGACTGTCCTG	0.582000			T	ETV6	AML								77	106					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65267575	65267575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:65267575C>T	ENST00000389722.3	-	7	828	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	SPTB_ENST00000556626.1_Missense_Mutation_p.E259K|SPTB_ENST00000542895.1_Missense_Mutation_p.E259K|SPTB_ENST00000389720.3_Missense_Mutation_p.E259K|SPTB_ENST00000389721.5_Missense_Mutation_p.E259K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	259	Actin-binding.|CH 2.				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	p.E259K(1)		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)		TCAGGGTTTTCCGTAAAGACA	0.498000											OREG0022735	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
GFRA1	2674	broad.mit.edu	37	10	117884788	117884788	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:117884788C>T	ENST00000439649.3	-	5	1066	c.699G>A	c.(697-699)agG>agA	p.R233R	GFRA1_ENST00000544592.1_Silent_p.R117R|GFRA1_ENST00000369236.1_Silent_p.R233R|GFRA1_ENST00000355422.6_Silent_p.R238R	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	238					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGCTTCTCCCTCTCTTCAT	0.547000													46	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075374	9075374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9075374C>T	ENST00000397910.4	-	3	12275	c.12072G>A	c.(12070-12072)atG>atA	p.M4024I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4026	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						AGCTGGTGTCCATGTAAGGGC	0.458000													49	70					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030803	69030803	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:69030803G>A	ENST00000288368.4	+	27	3622	c.3345G>A	c.(3343-3345)agG>agA	p.R1115R		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	1115					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						ACAGCAATAGGAATTCCATCG	0.463000													80	217					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761137	92761137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92761137G>A	ENST00000318238.4	-	5	5364	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1383F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1383F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1383										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)			GGCCAAAATGGAATTTTGTTT	0.378000													96	150					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304939	10304939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10304939G>A	ENST00000403437.2	-	23	2946	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	951					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGAGTTCTGAACATTCATC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				220	307					0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680128	34680128	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:34680128A>G	ENST00000257831.3	+	8	777	c.656A>G	c.(655-657)aAc>aGc	p.N219S	EHF_ENST00000450654.2_Missense_Mutation_p.N196S|EHF_ENST00000530286.1_Missense_Mutation_p.N219S|EHF_ENST00000531794.1_Missense_Mutation_p.N241S|EHF_ENST00000533754.1_Missense_Mutation_p.N219S	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	219					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCCTCTTGAACCCAGACAAG	0.463000													37	78					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312215	99312215	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:99312215T>G	ENST00000336374.2	-	8	763	c.761A>C	c.(760-762)aAa>aCa	p.K254T		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	254					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTTTATCTGTTTTACAGATTT	0.308000													43	50					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51465129G>A	ENST00000376851.3	-	5	892	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Silent_p.F44F|KLK6_ENST00000310157.2_Silent_p.F151F|KLK6_ENST00000456750.2_Silent_p.F44F|KLK6_ENST00000594641.1_Silent_p.F151F	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000													79	97					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45714242	45714242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:45714242G>A	ENST00000273317.4	+	5	1723	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	LIMD1_ENST00000440097.1_Missense_Mutation_p.E568K|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	568	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CATCTGTAATGAGTGTTTGGA	0.537000													69	20					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408599	2408599	+	Silent	SNP	G	G	A	rs150600366		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:2408599G>A	ENST00000381223.4	-	2	365	c.162C>T	c.(160-162)atC>atT	p.I54I	ZBED1_ENST00000381222.2_Silent_p.I54I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.I54I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	54						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CGGAGTAGGCGATCTGGGCCA	0.557000													79	124					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:77764324C>T	ENST00000521891.2	+	10	5615	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(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)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)			39	113					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49391365	49391365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:49391365G>A	ENST00000221399.3	-	8	934	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	264					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCAGGGCAGGGGGAGCGGATT	0.637000													28	43					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245849093	245849093	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:245849093C>T	ENST00000366518.4	+	9	1769	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	KIF26B_ENST00000407071.2_Silent_p.I936I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	936	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGACTGCATCGACGGCAGCG	0.637000													36	43					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761180	52761180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:52761180G>A	ENST00000257901.3	-	1	85	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	4	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGAGCGGCACGACATC	0.627000													15	43					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46969249	46969249	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:46969249C>T	ENST00000374325.3	-	2	364	c.212_splice	c.e2+1	p.R71_splice	SYT15_ENST00000503753.1_Splice_Site_p.R71_splice|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Splice_Site_p.R71_splice	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	71						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTGCCTCACCTGCTCAGTTG	0.612000													20	56					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000													10	19					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766381	91766381	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:91766381C>T	ENST00000389857.6	-	21	3755	c.3669G>A	c.(3667-3669)ctG>ctA	p.L1223L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1223					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCGCTCCTCCAGCTCCGCCT	0.637000													12	23					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	556900	556900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:556900C>T	ENST00000329451.3	-	8	973	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	304										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGTGGTCCCGGGGCGGGTG	0.687000													6	5					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70782757	70782757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:70782757G>A	ENST00000373719.3	+	16	2255	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N	OGT_ENST00000373701.3_Missense_Mutation_p.D670N	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	680					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TATTATCACTGATCAGGAAAC	0.398000													81	142					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76902587	76902587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:76902587G>A	ENST00000356260.5	-	3	350	c.232C>T	c.(232-234)Cct>Tct	p.P78S	SDAD1_ENST00000395711.4_Missense_Mutation_p.P78S|RP11-630D6.5_ENST00000501239.2_RNA	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	78					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCTCTTGAGGAAAATTACTT	0.408000													47	99					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679709	95679709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:95679709G>A	ENST00000298912.4	-	6	568	c.455C>T	c.(454-456)cCa>cTa	p.P152L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	152	Actin-binding.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCTGGAAGATGGAGAGTTTCT	0.557000													40	63					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462785	224462785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:224462785G>A	ENST00000305409.2	-	2	1448	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	406					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTATTTTGGAACAGGTCT	0.517000													50	70					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569010	49569010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:49569010C>T	ENST00000545947.1	+	6	1788	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	DAG1_ENST00000308775.2_Missense_Mutation_p.P356S|DAG1_ENST00000541308.1_Missense_Mutation_p.P356S|DAG1_ENST00000539901.1_Missense_Mutation_p.P356S|DAG1_ENST00000538711.1_Missense_Mutation_p.P356S|DAG1_ENST00000515359.2_Missense_Mutation_p.P356S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	356	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACCATGGCTCCTCCAGTCAG	0.612000													98	18					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113563001	113563001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:113563001G>A	ENST00000297405.5	-	27	4707	c.4463C>T	c.(4462-4464)tCt>tTt	p.S1488F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1384F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1488F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1448F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1488	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAATAAGAGATCCACTAAT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	104					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325440	31325440	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:31325440A>G	ENST00000269197.5	+	12	5628	c.5628A>G	c.(5626-5628)caA>caG	p.Q1876Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1876					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						CATTTAAGCAAGAATGGCTAA	0.507000													183	222					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683194	43683194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:43683194C>T	ENST00000599812.1	-	3	641	c.546G>A	c.(544-546)atG>atA	p.M182I	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	182	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)				TCTGACCATTCATCCACCACA	0.502000													161	218					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447782	10447782	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:10447782A>G	ENST00000326756.3	-	3	609	c.171T>C	c.(169-171)atT>atC	p.I57I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CACATGTAGCAATGGTCATCA	0.483000													123	173					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255167	3255167	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:3255167G>A	ENST00000304646.2	+	1	921	c.921G>A	c.(919-921)agG>agA	p.R307R	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TAGTTGGCAGGGTGGTGTTTT	0.383000													34	58					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890053	55890053	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55890053T>A	ENST00000313472.3	+	1	205	c.205T>A	c.(205-207)Ttt>Att	p.F69I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCACCTGTCATTTATTGACCT	0.438000													67	479					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277647	159277647	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:159277647C>T	ENST00000368115.1	+	6	798	c.699C>T	c.(697-699)ctC>ctT	p.L233L	FCER1A_ENST00000368114.1_Silent_p.L200L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	233						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCACATTTCTCTTGAAGATTA	0.388000													35	69					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216326	55216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55216326C>T	ENST00000340465.2	+	5	732	c.646C>T	c.(646-648)Cca>Tca	p.P216S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	216						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATGGTTCCACCCCCTAC	0.443000													45	137					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364224	23364224	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:23364224G>A	ENST00000343070.2	+	3	590	c.414G>A	c.(412-414)agG>agA	p.R138R	SCNN1B_ENST00000307331.5_Silent_p.R183R|SCNN1B_ENST00000568923.1_Silent_p.R138R|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Silent_p.R138R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	138					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCACCAGGAACCTGAACT	0.517000													58	92					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147094285	147094285	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:147094285C>G	ENST00000234739.3	+	9	3856	c.3116C>G	c.(3115-3117)tCc>tGc	p.S1039C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1039	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATGACGACTCCCCTCCAGCT	0.473000			T	"""IGH@, IGL@"""	B-ALL								75	129					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487844	51487844	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:51487844G>A	ENST00000340438.4	+	1	1364	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	374					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TGCCCTTTTTGAAAAAAGTAG	0.378000													27	33					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132873848	132873848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:132873848C>T	ENST00000275200.1	+	1	17	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	6						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AGCAATTTTTCCCAACCTGTT	0.393000													54	8					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167187	167167187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:167167187G>A	ENST00000476257.1	-	8	1266	c.968C>T	c.(967-969)tCa>tTa	p.S323L	SERPINI2_ENST00000264677.4_Missense_Mutation_p.S323L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S323L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S323L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	323					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CACTTCAGATGAATCTGGTTA	0.294000													18	24					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78808172	78808172	+	Silent	SNP	G	G	A	rs144739137		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:78808172G>A	ENST00000376752.4	+	21	3123	c.2646G>A	c.(2644-2646)gcG>gcA	p.A882A	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	882	PLAC.				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						AGTCCTGGGCGGAAGGAGGCT	0.463000													26	10					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592227	1592227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:1592227C>T	ENST00000279477.7	-	2	273	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G70E|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	70	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGGTCCAGCTCCTCTGAACCA	0.522000													39	17					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684109	77684109	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:77684109G>A	ENST00000461745.1	+	24	4749	c.3849G>A	c.(3847-3849)caG>caA	p.Q1283Q	ROBO2_ENST00000332191.8_Silent_p.Q1344Q|ROBO2_ENST00000487694.3_Silent_p.Q1299Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1283					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)		GTCAAAGTCAGAGGCCTCGGC	0.493000													75	81					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978607	247978607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:247978607C>T	ENST00000357627.1	-	1	424	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGTGGCTCTTTGGACACA	0.522000													217	150					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51219352	51219352	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:51219352G>C	ENST00000245441.5	-	21	5024	c.4834C>G	c.(4834-4836)Caa>Gaa	p.Q1612E	NIN_ENST00000382043.4_Missense_Mutation_p.Q899E|NIN_ENST00000530997.2_Missense_Mutation_p.Q1612E|NIN_ENST00000453196.1_Missense_Mutation_p.Q1612E|NIN_ENST00000382041.3_Missense_Mutation_p.Q1612E|NIN_ENST00000324330.9_Missense_Mutation_p.Q1612E|NIN_ENST00000389868.3_Missense_Mutation_p.Q899E	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1612					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTAGACGTTGATTAAGTTCT	0.363000			T	PDGFRB	MPD								11	386					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568468	229568468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:229568468G>A	ENST00000366684.3	-	3	391	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	ACTA1_ENST00000366683.2_Missense_Mutation_p.R97C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	97					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGAGCCACGCGAAGCTCGTTG	0.572000													113	241					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390507	124390507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:124390507C>T	ENST00000368909.3	+	46	5775	c.5669C>T	c.(5668-5670)tCa>tTa	p.S1890L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1262L|DMBT1_ENST00000338354.3_Missense_Mutation_p.S1890L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1880L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1262L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S610L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1880L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1890	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATTTAAATTCATCCTATGGT	0.478000													29	13					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947797	14947797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:14947797C>T	ENST00000287667.7	+	9	1048	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	293						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						CTTCCAGATTCCGTTCTATCG	0.438000													121	274					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78485846	78485846	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:78485846A>G	ENST00000258873.4	-	5	869		c.e5+1		ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCTTCCCCAAACCTTCAGGAT	0.582000													70	67					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903600	4903600	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:4903600C>T	ENST00000380378.1	+	1	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F157F	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAGTTTTCTTACTTCCCC	0.468000													88	98					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101647	168101647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:168101647G>A	ENST00000409195.1	+	9	3834	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1027N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1249N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1074					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAACCAATTGATAAGATAAA	0.343000													45	55					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851361	43851361	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:43851361A>C	ENST00000372769.3	+	2	1178	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	363	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTGGAGAAAAGGGCATCCAG	0.383000													51	58					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436568	25436568	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:25436568G>A	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1																						GGGTTGGGTCGATGATGAGAA	0.532000													238	325					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750786	119750786	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:119750786T>G	ENST00000541757.1	+	17	1485	c.1105T>G	c.(1105-1107)Tgc>Ggc	p.C369G	MARCO_ENST00000327097.4_Missense_Mutation_p.C447G			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	447	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGACAATTTGCGATGACGA	0.517000													103	168					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334237	210334237	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:210334237T>A	ENST00000537238.1	+	9	1795	c.1404T>A	c.(1402-1404)taT>taA	p.Y468*	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Nonsense_Mutation_p.Y506*|SYT14_ENST00000367015.1_Nonsense_Mutation_p.Y468*|SYT14_ENST00000367019.1_Nonsense_Mutation_p.Y525*|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000422431.1_Nonsense_Mutation_p.Y570*|SYT14_ENST00000534859.1_Nonsense_Mutation_p.Y532*	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	506	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGTCTGTGTATAACAAACGCA	0.418000													76	197					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803563	20803563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20803563G>A	ENST00000289416.5	+	12	1935	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q	ACSM3_ENST00000450120.2_Missense_Mutation_p.R479Q|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	487					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCTAGCTATCGAATTGGACCA	0.448000													252	368					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44831935	44831935	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:44831935A>G	ENST00000354340.4	-	4	2426	c.2375T>C	c.(2374-2376)gTt>gCt	p.V792A	ZNF112_ENST00000536500.1_Missense_Mutation_p.V815A|ZNF112_ENST00000337401.4_Missense_Mutation_p.V798A	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTCCACATGAACCCTTTGGTG	0.478000													89	120					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30689321	30689321	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:30689321G>A	ENST00000534862.1	+	14	1883	c.1520G>A	c.(1519-1521)tGa>tAa	p.*507*	HCK_ENST00000375852.2_Silent_p.*527*|HCK_ENST00000518730.1_Silent_p.*505*|HCK_ENST00000520553.1_Silent_p.*506*|HCK_ENST00000375862.2_Silent_p.*526*|HCK_ENST00000538448.1_Silent_p.*506*	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	0	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCAGCCATGATAGGGAGGA	0.627000													16	18					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13679062	13679062	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:13679062G>A	ENST00000404922.3	+	18	3458	c.3338_splice	c.e18-1	p.T1113_splice	FBLN2_ENST00000535798.1_Splice_Site_p.T1092_splice|FBLN2_ENST00000492059.1_Splice_Site_p.T1113_splice|FBLN2_ENST00000295760.7_Splice_Site_p.T1066_splice	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1066	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T532T(1)|p.T1113T(1)		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)			CTCCCTGCAGGAAGTGCGAGC	0.657000													23	12					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41848150	41848150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:41848150C>T	ENST00000221930.5	-	4	1503	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	213					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CCCTCAATTTCCCCTGTAGGA	0.602000													11	13					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110091367	110091367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:110091367G>A	ENST00000369851.4	+	1	135	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	9					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAGCGCCGAAGACAAGGCGGC	0.647000													11	24					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526238	21526238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:21526238G>A	ENST00000313654.9	+	70	9582	c.9341G>A	c.(9340-9342)gGg>gAg	p.G3114E	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3058E|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1449E|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1505E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3114	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCCATCAGGGAAACCAAAG	0.448000													39	60					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816460	38816460	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:38816460C>T	ENST00000476049.1	-	3	267		c.e3-1		KRT222_ENST00000394052.3_Splice_Site			Q8N1A0	KT222_HUMAN	keratin 222							intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GGCCCCTTTCCTGTTTTATAT	0.383000													40	53					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52129397	52129397	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:52129397A>G	ENST00000596288.1	-	17	2578	c.2551T>C	c.(2551-2553)Ttc>Ctc	p.F851L	MCM3_ENST00000419835.2_Missense_Mutation_p.F760L|MCM3_ENST00000229854.7_Missense_Mutation_p.F806L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	806					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGATGAGGAAGATGATGCCC	0.537000													73	175					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197784778	197784778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197784778G>A	ENST00000354764.3	-	2	358	c.244C>T	c.(244-246)Cct>Tct	p.P82S	PGAP1_ENST00000409475.1_Missense_Mutation_p.P82S|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.P40S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	82					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CCCGTCAAAGGGAGAATTTTG	0.373000													59	92					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862256	23862256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:23862256G>A	ENST00000405093.3	-	24	3186	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	MYH6_ENST00000356287.3_Missense_Mutation_p.S1039F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1039					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGCTCTAGGGATCCCTCCAG	0.502000													57	45					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440114	132440114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:132440114C>T	ENST00000370828.3	-	5	1470	c.946G>A	c.(946-948)Gat>Aat	p.D316N	GPC4_ENST00000535467.1_Missense_Mutation_p.D246N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	316					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCGATGGGATCC	0.453000													115	162					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312415	86312415	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:86312415C>T	ENST00000337975.5	-	2	901	c.627G>A	c.(625-627)gtG>gtA	p.V209V	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.V209V	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	209						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTCGAAGACCACCCGCTCGT	0.627000													38	30					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72435915	72435915	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72435915G>A	ENST00000392627.1	+	2	1261	c.135G>A	c.(133-135)agG>agA	p.R45R	GPRC5C_ENST00000392629.2_Silent_p.R12R|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Silent_p.R45R	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	206						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGAGCCAGGATGGCCATCC	0.582000													38	53					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142517231	142517231	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:142517231C>T	ENST00000430863.1	-	0	99					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TATGGCCTTTCAGAACACTGC	0.642000													9	68					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266803	12266803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12266803C>T	ENST00000376259.3	+	10	1201	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	371					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCAGATTCTTCCCCTGGTGGC	0.602000													76	105					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336183	101336183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:101336183G>A	ENST00000392979.3	+	4	582	c.221G>A	c.(220-222)gGa>gAa	p.G74E	ANO4_ENST00000538618.1_Missense_Mutation_p.G275E|ANO4_ENST00000392977.3_Missense_Mutation_p.G109E|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	109						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						AAATCAAATGGACTTTACTTT	0.368000										HNSCC(74;0.22)			77	101					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082287	78082287	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:78082287G>A	ENST00000302262.3	+	7	1294		c.e7-1		GAA_ENST00000390015.3_Splice_Site	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid						cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTGGCCTGCAGGATACCCGTT	0.672000													22	24					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111877	76111877	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:76111877C>T	ENST00000324432.5	+	5	831	c.321C>T	c.(319-321)ggC>ggT	p.G107G	DTX2_ENST00000446600.1_Silent_p.G16G|DTX2_ENST00000446820.2_Silent_p.G107G|DTX2_ENST00000413936.2_Silent_p.G107G|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000307569.8_Silent_p.G107G|DTX2_ENST00000430490.2_Silent_p.G107G	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	107	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGCCCCTGGCCGAGGTGTCG	0.587000													62	59					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113470398	113470398	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:113470398T>C	ENST00000487903.1	+	6	531	c.441_splice	c.e6-1	p.V148_splice	ATP11A_ENST00000375630.2_Splice_Site_p.V148_splice|ATP11A_ENST00000283558.8_Splice_Site_p.V148_splice|ATP11A_ENST00000375645.3_Splice_Site_p.V148_splice			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	148					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V148A(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTCCTGTAGGTTGGGGACATT	0.557000													64	83					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074117	32074117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:32074117G>A	ENST00000438447.1	+	18	3293	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D969N			O15018	PDZD2_HUMAN	PDZ domain containing 2	969					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGATGCCAACGATGCCAGTGA	0.612000													30	54					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314192	58314192	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:58314192A>C	ENST00000219301.4	-	7	1518	c.1124T>G	c.(1123-1125)tTg>tGg	p.L375W	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.L375W|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.L276W	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	375					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTGATACAACCTGTTCTG	0.478000													44	70					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502582	32502582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:32502582G>A	ENST00000286827.3	-	26	4465	c.3994C>T	c.(3994-3996)Cga>Tga	p.R1332*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.R1272*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1332	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCATGTGTCGAAATCTGAAG	0.507000													129	188					0	0	1	0	0
C9orf106	414318	broad.mit.edu	37	9	132084184	132084184	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:132084184C>T	ENST00000316786.1	+	0	145							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				cttttctctcccaggcccttg	0.612000													8	3					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137214	97137214	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:97137214T>A	ENST00000524981.3	+	20	2607	c.2607T>A	c.(2605-2607)aaT>aaA	p.N869K				Q6ZTY8	CL063_HUMAN		843										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						GCCTCATCAATGAAGTGTGTA	0.398000													35	55					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480592	123480592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:123480592C>T	ENST00000529750.1	+	12	1645	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P447S|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.P131S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P440S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	440						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)		CCCTCTGGCTCCCAAAACTGC	0.502000													7	9					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523592	106523592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:106523592C>T	ENST00000359195.3	+	8	3054	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S915F|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S915F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	915	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGAAAAATCCCCTACTGAA	0.423000													44	17					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17720797	17720797	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17720797T>G	ENST00000428389.2	-	44	5026	c.5027A>C	c.(5026-5028)aAa>aCa	p.K1676T	UNC13A_ENST00000519716.2_Missense_Mutation_p.K1588T|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1561T|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1607T|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1588T|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1582T			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1588					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTCTTGGATTTGGTCGCAAA	0.537000													58	88					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320494	56320494	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56320494G>A	ENST00000443188.1	-	5	2192	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	NLRP11_ENST00000589093.1_Silent_p.F494F|NLRP11_ENST00000360133.3_Silent_p.F494F|NLRP11_ENST00000589824.2_Silent_p.F494F|NLRP11_ENST00000592953.1_Silent_p.F395F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	494							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)		GACCAAAAATGAAAGTAAACA	0.418000													66	105					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966703	55966703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55966703G>A	ENST00000085068.3	-	4	527	c.391C>T	c.(391-393)Cca>Tca	p.P131S	ISOC2_ENST00000438389.2_Intron|ISOC2_ENST00000425675.2_Intron	NM_001136201.1|NM_024710.2	NP_001129673.1|NP_078986.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	116					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	p.P131S(1)		endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTGTTCTGTGGGTAGAGAGAG	0.637000													11	37					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561905	11561905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:11561905G>A	ENST00000294484.6	+	2	994	c.856G>A	c.(856-858)Gag>Aag	p.E286K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E286K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	286					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGCGACGCGGAGCGCAACAT	0.637000													14	17					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890167	55890167	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55890167T>A	ENST00000313472.3	+	1	319	c.319T>A	c.(319-321)Ttg>Atg	p.L107M		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTTTGTCTTCTTGGGTACTGC	0.443000													250	266					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407169	55407169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:55407169C>T	ENST00000341048.4	-	10	1557	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R426Q|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R181Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	468										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTCTGAGATCGCTGGGCCAT	0.483000													88	99					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000949	17000949	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17000949C>T	ENST00000248076.3	+	2	1005	c.675C>T	c.(673-675)cgC>cgT	p.R225R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	225					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTCCGATCGCGTGCTCTGCC	0.697000													11	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613357	179613357	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179613357G>A	ENST00000360870.5	-	46	13992	c.13770C>T	c.(13768-13770)ttC>ttT	p.F4590F	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	715	Ig-like 26.						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)			CTAATTCTTGGAATTTCACAT	0.323000													75	131					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090587	184090587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184090587C>T	ENST00000421442.2	-	6	659	c.660G>A	c.(658-660)tgG>tgA	p.W220*	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.G255E|THPO_ENST00000204615.7_Missense_Mutation_p.G259E			P40225	TPO_HUMAN	thrombopoietin	0					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)			AGGAAAGAGTCCACGAGTTCC	0.557000													82	132					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138400541	138400541	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:138400541A>G	ENST00000310018.2	-	20	2507	c.2225T>C	c.(2224-2226)cTg>cCg	p.L742P	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L742P|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L742P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	742					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGCCGCAGGTAGGAGGC	0.562000													4	201					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436035	158436035	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158436035C>T	ENST00000289451.2	+	1	764	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTAAAAATCCCTTCCTCCG	0.458000													54	75					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20206023	20206023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:20206023C>T	ENST00000379565.3	-	9	904	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E205K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E204K|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E205K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	233	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GCCATATACTCCACAGTTCCA	0.373000													71	99					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815030	117815030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:117815030C>T	ENST00000276204.6	+	50	5755	c.5681C>T	c.(5680-5682)tCg>tTg	p.S1894L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1894L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1894	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCTTCAAACTCGTTTCCTTAC	0.299000													45	85					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23064935	23064935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:23064935G>A	ENST00000246006.4	-	1	2042	c.1895C>T	c.(1894-1896)cCa>cTa	p.P632L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	632					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCTCGCTCTGGAACCCAGGA	0.612000													118	141					0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36081023	36081023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:36081023C>T	ENST00000360731.3	+	5	1690	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	CLIC6_ENST00000349499.2_Missense_Mutation_p.P546S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	564	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GACCCAACATCCCGAATCTAA	0.403000													30	40					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780653	37780653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:37780653G>A	ENST00000447769.1	+	4	947	c.658G>A	c.(658-660)Gag>Aag	p.E220K	GPR141_ENST00000334425.1_Missense_Mutation_p.E220K|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCCACCAGGAGTTCTGGGC	0.423000													97	134					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125787	134125787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:134125787C>T	ENST00000220616.4	+	44	7734	c.7694C>T	c.(7693-7695)tCt>tTt	p.S2565F	TG_ENST00000542445.1_Missense_Mutation_p.S935F|TG_ENST00000377869.1_Missense_Mutation_p.S2508F|TG_ENST00000519543.1_Missense_Mutation_p.S698F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2565					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGTATTACTCTCTGGAGCAC	0.562000													56	43					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45844749	45844749	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:45844749C>T	ENST00000397928.1	+	24	4009	c.3564C>T	c.(3562-3564)gcC>gcT	p.A1188A	TRPM2_ENST00000300482.5_Silent_p.A1188A|TRPM2_ENST00000300481.9_Silent_p.A1168A|TRPM2_ENST00000397932.2_Silent_p.A1238A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1188						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAGACAGCCCAAGCCCTGC	0.677000													7	17					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36722679	36722679	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:36722679C>T	ENST00000216181.5	-	5	776	c.546G>A	c.(544-546)gaG>gaA	p.E182E	MYH9_ENST00000401701.1_Silent_p.E182E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	182	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTTGGTGTTCTCCGTCTTGC	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				164	29					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996488	140996488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:140996488C>T	ENST00000285879.4	+	4	3584	c.3298C>T	c.(3298-3300)Cca>Tca	p.P1100S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P167S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1100	MAGE.						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)					TATTACCTTTCCATCCTCTTA	0.448000										HNSCC(15;0.026)			117	167					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179546356	179546356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:179546356C>T	ENST00000393371.2	-	7	1193	c.897G>A	c.(895-897)atG>atA	p.M299I	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.M148I|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.M299I			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	299	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGATGGCCATGAGGGAGT	0.642000													46	62					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72956643	72956643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:72956643G>A	ENST00000261180.4	+	9	1826	c.1730G>A	c.(1729-1731)aGa>aAa	p.R577K	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	577					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						GCTTTAAAAAGAAATGGGAAA	0.284000													47	69					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156850	48156850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48156850C>T	ENST00000320031.8	+	21	2965	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	ITGA3_ENST00000007722.7_Missense_Mutation_p.P879S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	879					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACAGCTGGATCCAGGGGGAGG	0.627000													41	53					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112300	154112300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:154112300C>T	ENST00000368559.3	-	5	766	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R232Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	232						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCATGAATTCGAACTTTTAC	0.368000													199	289					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446457	179446457	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179446457G>C	ENST00000589042.1	-	316	66762	c.66538C>G	c.(66538-66540)Cca>Gca	p.P22180A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13240A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13307A|TTN_ENST00000342992.6_Missense_Mutation_p.P19612A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13115A|TTN_ENST00000591111.1_Missense_Mutation_p.P20539A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20539							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)			TCATAGGCTGGCTTGCCCCAA	0.473000													8	11					0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541194	5541194	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:5541194G>A	ENST00000380332.3	-	1	339	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	70	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GCCGCCGTCAGGAACTCCTGG	0.652000													31	31					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919060	52919060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52919060C>T	ENST00000360465.3	+	7	1381	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAAAATTCATACTGGAGA	0.378000													36	60					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85592194	85592194	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:85592194C>T	ENST00000590707.1	+	0	1493					NR_003719.2																						AGTTCAAGTCCCAACACAATA	0.408000													14	30					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41863308	41863308	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:41863308T>G	ENST00000263798.3	+	13	1876	c.1652T>G	c.(1651-1653)aTg>aGg	p.M551R	TYRO3_ENST00000559066.1_Missense_Mutation_p.M506R	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	551	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGTGAAGATGCTGAAAGGT	0.542000													104	105					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680645	7680645	+	Silent	SNP	C	C	T	rs147636119	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:7680645C>T	ENST00000340209.4	+	8	1029	c.732C>T	c.(730-732)tcC>tcT	p.S244S	RBFOX1_ENST00000311745.5_Silent_p.S259S|RBFOX1_ENST00000547372.1_Silent_p.S282S|RBFOX1_ENST00000550418.1_Silent_p.S239S|RBFOX1_ENST00000436368.2_Silent_p.S259S|RBFOX1_ENST00000422070.4_Silent_p.S282S|RBFOX1_ENST00000355637.4_Silent_p.S259S|RBFOX1_ENST00000547338.1_Silent_p.S239S|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Silent_p.S196S|RBFOX1_ENST00000552089.1_Silent_p.S256S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	239					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.S259S(2)|p.S239S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGGATCTTCCATGTACAGTG	0.483000													48	67					0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230843	110230843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:110230843G>A	ENST00000309851.5	+	2	142	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000349334.3_Missense_Mutation_p.E30K|GSTM1_ENST00000490021.2_Intron|GSTM1_ENST00000483399.2_Missense_Mutation_p.E30K|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.E30K|GSTM1_ENST00000369823.2_Missense_Mutation_p.E30K	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	30	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AAGCTATGAGGAAAAGAAGTA	0.602000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				149	201					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67799544	67799544	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:67799544G>A	ENST00000261681.4	+	15	2560	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.Q599Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	633	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGATGGAGCAGAACAATGGCC	0.368000													3	106					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806560	54806560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:54806560C>T	ENST00000306858.7	+	5	2907	c.2791C>T	c.(2791-2793)Cgg>Tgg	p.R931W		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	931										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCAACTGATCGGCGTGTTTA	0.428000													40	122					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691385	157691385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:157691385G>A	ENST00000389413.3	-	11	1784	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	PTPRN2_ENST00000409483.1_Missense_Mutation_p.L552F|PTPRN2_ENST00000404321.2_Missense_Mutation_p.L613F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.L573F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.L590F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	590						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)		CCGGTTTGAAGAATTTTCAGT	0.522000													162	257					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467272	56467272	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56467272C>T	ENST00000291971.3	+	3	1919	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	NLRP8_ENST00000590542.1_Silent_p.I616I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	616						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)		TGCATGAAATCCGGGAGGAAG	0.443000													55	65					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634452	70634452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:70634452G>A	ENST00000381269.2	-	2	1441	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q230*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q230*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q230*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q230*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	230					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.Q230*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCCAAACCTGGACCACACCA	0.493000													22	40					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804264	152804264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:152804264C>T	ENST00000367255.5	-	14	1907	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E426K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E443K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E436K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E436K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E443K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E436K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E436K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E436K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	436					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)		GCTGTTTCCTCGTGGACCTGT	0.493000										HNSCC(10;0.0054)			131	43					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540187	169540187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:169540187G>A	ENST00000340806.6	+	1	478	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	160										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGCCCAAGGAAATAGTGAA	0.502000													56	66					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494117	220494117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:220494117C>T	ENST00000358055.3	+	4	981	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	SLC4A3_ENST00000317151.3_Missense_Mutation_p.H157Y|SLC4A3_ENST00000273063.6_Missense_Mutation_p.H157Y|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.H157Y|SLC4A3_ENST00000373760.2_Missense_Mutation_p.H157Y			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	157	Pro-rich.		H -> P (in dbSNP:rs597306).		bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCCCCCCACTCAGGGAC	0.627000													6	6					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632675	24632675	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24632675C>T	ENST00000396864.3	+	4	740	c.453C>T	c.(451-453)aaC>aaT	p.N151N	IRF9_ENST00000557894.1_Silent_p.N49N|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	151					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCATGCAGAACTGCACACTCA	0.537000													88	98					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253093	124253093	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124253093G>A	ENST00000375013.2	-	1	165	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAGTGA	0.423000													82	203					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527628	70527628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:70527628C>T	ENST00000381269.2	-	3	2566	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E605K|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E605K|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000394330.2_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	605	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATTCCTCCTCATCTACTATT	0.438000													43	56					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706573	128706573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:128706573G>A	ENST00000265068.5	-	4	720	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	KIAA1257_ENST00000515659.1_Missense_Mutation_p.H73Y|KIAA1257_ENST00000511438.1_Missense_Mutation_p.H185Y|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	185										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTGATTTTGTGGAAATTTATT	0.438000													24	35					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811621	73811621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73811621C>T	ENST00000332687.6	-	4	1747	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	RLIM_ENST00000349225.2_Missense_Mutation_p.R510Q	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	510					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGACCCTCTCGCCTGGCACC	0.478000													33	34					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	84					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945843	55945843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55945843C>T	ENST00000394256.2	+	1	861	c.833C>T	c.(832-834)tCg>tTg	p.S278L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTCATTACTTCGGTTACTCCC	0.368000													29	54					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211055	55211055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:55211055C>T	ENST00000275493.2	+	3	475	c.298C>T	c.(298-300)Cct>Tct	p.P100S	EGFR_ENST00000420316.2_Missense_Mutation_p.P100S|EGFR_ENST00000442591.1_Missense_Mutation_p.P100S|EGFR_ENST00000344576.2_Missense_Mutation_p.P100S|EGFR_ENST00000455089.1_Missense_Mutation_p.P100S|EGFR_ENST00000342916.3_Missense_Mutation_p.P100S|EGFR_ENST00000454757.2_Missense_Mutation_p.P47S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	100					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAGCGAATTCCTTTGGAAAA	0.408000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	83					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53237185	53237185	+	Silent	SNP	C	C	T	rs115962086	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:53237185C>T	ENST00000376352.2	+	18	1782	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	STXBP4_ENST00000434978.2_Silent_p.I503I	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	525	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CATCCTGGATCCATCCCGTGA	0.433000													46	66					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121028698	121028698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:121028698C>T	ENST00000392793.1	+	14	4725	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F	TECTA_ENST00000264037.2_Missense_Mutation_p.S1485F			O75443	TECTA_HUMAN	tectorin alpha	1485					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAAGACCTCCTACTGCCTG	0.667000													20	35					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564612	176564612	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:176564612G>A	ENST00000367662.3	+	3	3036	c.1872G>A	c.(1870-1872)agG>agA	p.R624R	PAPPA2_ENST00000367661.3_Silent_p.R624R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	624	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R624S(2)		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						GGAACCGCAGGGATGGGCTCT	0.597000													36	62					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107007009	107007009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:107007009C>T	ENST00000369701.3	+	22	3252	c.3025C>T	c.(3025-3027)Cct>Tct	p.P1009S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1009						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCATTCTCTCCTAATCTGGA	0.438000													36	8					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17330493	17330493	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17330493G>A	ENST00000445667.2	+	8	711	c.651G>A	c.(649-651)acG>acA	p.T217T	USE1_ENST00000596136.1_3'UTR|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000263897.5_Silent_p.T217T			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	217					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AACTGAAGACGGAGTCAGAGC	0.532000													50	48					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411993	40411993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:40411993G>A	ENST00000221347.6	-	7	3642	c.3635C>T	c.(3634-3636)tCc>tTc	p.S1212F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1212	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGCAAAGGGAATCACATCC	0.672000													33	51					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31139282	31139282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:31139282G>A	ENST00000452305.1	-	8	585	c.22C>T	c.(22-24)Cct>Tct	p.P8S	ZNF438_ENST00000331737.6_Missense_Mutation_p.P8S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P18S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P18S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P18S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.P18S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P8S|ZNF438_ENST00000538351.1_5'UTR	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTTCCAGAAGGGATGTTTGAT	0.368000													44	42					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367214	32367214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:32367214G>A	ENST00000298386.2	+	16	1846	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G568E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	592						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TATTCTCTTGGAATTTTCCTA	0.294000													30	55					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903566	55903566	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:55903566G>A	ENST00000247219.5	-	2	391	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	107					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TATTTTCCTGGGTAACTTCAT	0.428000													29	61					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56619270	56619270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56619270G>A	ENST00000321691.3	-	2	1800	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	540										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATAGGAGGGAAAAGCACAG	0.493000													49	81					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	339064	339064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:339064C>T	ENST00000432829.2	+	13	1593	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	DOCK8_ENST00000453981.1_Missense_Mutation_p.S494L|DOCK8_ENST00000469391.1_Missense_Mutation_p.S426L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	494	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAAGATCATCATCCTTA	0.398000													28	13					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562000													143	211					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45132920	45132920	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:45132920C>T	ENST00000457685.2	-	5	1383	c.60G>A	c.(58-60)gtG>gtA	p.V20V	ZNF334_ENST00000593880.1_Silent_p.V81V|ZNF334_ENST00000347606.4_Silent_p.V58V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTTGAAAATCACATCTGGTT	0.403000													25	42					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74143732	74143732	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:74143732A>C	ENST00000409624.1	+	9	1470	c.827A>C	c.(826-828)cAt>cCt	p.H276P	ACTG2_ENST00000345517.3_Missense_Mutation_p.H276P|ACTG2_ENST00000409731.3_Missense_Mutation_p.H233P			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	276					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GCTGGAATTCATGAGACAACC	0.488000													31	33					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013730	49013730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:49013730C>T	ENST00000600059.1	-	2	423	c.196G>A	c.(196-198)Gat>Aat	p.D66N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D95N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGCCGACATCGCCCCGTTTG	0.602000													9	9					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6851122	6851122	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:6851122C>T	ENST00000419673.2	+	3	373	c.156C>T	c.(154-156)tcC>tcT	p.S52S	ARHGAP28_ENST00000262227.3_Silent_p.S159S|ARHGAP28_ENST00000400091.2_Silent_p.S211S|ARHGAP28_ENST00000383472.4_Silent_p.S211S|ARHGAP28_ENST00000418986.1_Silent_p.S52S|ARHGAP28_ENST00000531294.1_Intron|ARHGAP28_ENST00000314319.3_Silent_p.S52S|ARHGAP28_ENST00000532996.1_Silent_p.S34S	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CAAGTGGTTCCATGGTAAGTT	0.428000													41	51					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206904533	206904533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:206904533C>T	ENST00000367103.3	+	7	1011	c.818C>T	c.(817-819)cCg>cTg	p.P273L	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.P273L	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	273	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras 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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCCATCTCTCCGGGCATGAAG	0.527000													96	225					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171035	51171035	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:51171035G>A	ENST00000440970.1	-	3	4103	c.3672C>T	c.(3670-3672)atC>atT	p.I1224I	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.I144I|SALL1_ENST00000251020.4_Silent_p.I1321I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1321					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1321I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGTGACGATCTCCTTGC	0.592000													43	61					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370283	129370283	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:129370283A>G	ENST00000370978.4	-	8	829	c.676T>C	c.(676-678)Tca>Cca	p.S226P		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	226	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATGGAGATGAGGTATTTGTA	0.318000													54	71					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388294	56388294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56388294G>A	ENST00000355701.3	-	19	4232	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1121L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1061L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1121	Pro-rich.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTCCAAGGGGAGCAGGGTG	0.657000													9	15					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316574	30316574	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:30316574A>G	ENST00000375377.1	-	3	2604	c.2503T>C	c.(2503-2505)Tta>Cta	p.L835L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	835										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAACTTTCTAACTGACTGATC	0.557000													76	107					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866308	131866308	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:131866308C>G	ENST00000359827.3	-	18	4286	c.3324G>C	c.(3322-3324)caG>caC	p.Q1108H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q1108H			Q9HCM2	PLXA4_HUMAN	plexin A4	1108	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAGGTCTGACTGGTGGTCAG	0.577000													68	60					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118227657	118227657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118227657C>T	ENST00000402510.2	-	10	1455	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	486										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCTTCTTTTCGTTGATTTCT	0.433000													30	49					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71188216	71188216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:71188216C>T	ENST00000260382.5	+	3	394	c.134C>T	c.(133-135)tCg>tTg	p.S45L	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.S35L|LRRC49_ENST00000560369.1_Missense_Mutation_p.S50L|LRRC49_ENST00000443425.2_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm|microtubule		p.S45L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAAGACACATCGTCATTCCCC	0.323000													16	63					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462739	224462739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:224462739C>T	ENST00000305409.2	-	2	1494	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	421			R -> G (in dbSNP:rs17856669).		angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGTCCCAGCACGACCAGGTGT	0.483000													60	62					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61829298	61829298	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:61829298A>G	ENST00000582252.1	-	12	1550	c.1373T>C	c.(1372-1374)gTt>gCt	p.V458A	CCDC47_ENST00000403162.3_Splice_Site|CCDC47_ENST00000225726.5_Splice_Site|RP11-51F16.8_ENST00000580553.1_Splice_Site			Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	0						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTTTGTCTAACCTCCAGCCT	0.443000													96	140					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			138	184					7.33781e-80	7.46714e-80	1	1	0
SYNM	23336	broad.mit.edu	37	15	99670775	99670775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:99670775G>A	ENST00000336292.6	+	5	2327	c.2207G>A	c.(2206-2208)aGg>aAg	p.R736K	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.R736K|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.R451K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	737	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTGAAAGGGAGGGAGGGGAGA	0.537000													19	6					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153222123	153222123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153222123G>A	ENST00000310441.7	-	15	3554	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	HCFC1_ENST00000369984.4_Missense_Mutation_p.S863F|HCFC1_ENST00000354233.3_Missense_Mutation_p.S794F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	863	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACGGCGGAGACGGTGAC	0.632000													90	129					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:107298474G>A	ENST00000374781.2	-	1	663	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000													106	31					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	527770	527770	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:527770C>T	ENST00000239830.4	+	5	560	c.381C>T	c.(379-381)cgC>cgT	p.R127R	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.R95R|CCDC77_ENST00000422000.1_Silent_p.R95R|CCDC77_ENST00000540180.1_Silent_p.R95R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	127						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGTTTTACGCCTCTACTCAG	0.403000													80	112					0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48771524	48771524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:48771524G>A	ENST00000376509.4	-	6	1009	c.820C>T	c.(820-822)Cga>Tga	p.R274*	PIM2_ENST00000485431.1_5'UTR	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	274	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	p.R274fs*>38(1)		lung(3)|stomach(1)	4						AGTGAGGGTCGGGAAGAAGGT	0.602000													12	19					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084268	107084268	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107084268A>C	ENST00000262843.6	+	2	921	c.373A>C	c.(373-375)Act>Cct	p.T125P	MID2_ENST00000443968.2_Missense_Mutation_p.T125P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCGGGAAAGGACTTACAGGCC	0.532000													32	65					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97711708	97711708	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:97711708C>T	ENST00000472788.1	-	0	1093					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TTCCTGTCTTCTTGAATTGTT	0.473000													115	207					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016354	23016354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:23016354G>A	ENST00000255008.3	+	1	298	c.234G>A	c.(232-234)atG>atA	p.M78I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	78					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCCAAGATGAAGACGGCTA	0.632000													107	162					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711659	20711659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20711659C>T	ENST00000315409.2	+	1	762	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AGCTGTTTTTCAGGTCCCTTC	0.408000													150	255					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54569418	54569418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:54569418C>T	ENST00000336470.4	+	6	476	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GNL3L_ENST00000360845.2_Missense_Mutation_p.P113S|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	113					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAATATGTTTCCTCAGCTGGA	0.488000													33	36					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86357478	86357478	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:86357478T>C	ENST00000376371.2	-	11	1342	c.942A>G	c.(940-942)gaA>gaG	p.E314E	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Silent_p.E263E	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	314					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TACTTTGTGATTCATCAACTT	0.343000													74	16					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837973	29837973	+	Silent	SNP	T	T	C	rs61731583		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:29837973T>C	ENST00000354373.2	+	2	1025	c.816T>C	c.(814-816)agT>agC	p.S272S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	272	B30.2/SPRY.						zinc ion binding	p.S272S(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATTCAGGAGTGTCTCTGCTG	0.473000													5	98					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14951449	14951449	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:14951449T>C	ENST00000287667.7	+	11	1328	c.1157T>C	c.(1156-1158)tTt>tCt	p.F386S	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	386						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						CACCTCTACTTTGAAACGGTC	0.438000													86	212					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876092	2876092	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:2876092A>T	ENST00000520002.1	-	53	8494	c.7939T>A	c.(7939-7941)Ttt>Att	p.F2647I	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2647I|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2646I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2647	Sushi 17.					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)		TTGCACGTAAATATAGCTGTG	0.478000													150	39					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74364873	74364873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:74364873C>T	ENST00000555044.1	+	5	682	c.488C>T	c.(487-489)cCa>cTa	p.P163L	ZNF410_ENST00000556797.1_Missense_Mutation_p.P110L|ZNF410_ENST00000540593.1_Missense_Mutation_p.P90L|ZNF410_ENST00000334521.4_Missense_Mutation_p.P110L|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.P180L|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.P163L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AGTAGCATTCCATGGTTCCTC	0.507000													80	119					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951282	10951282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:10951282G>A	ENST00000298232.7	-	9	743	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.R106*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R144*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	144					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126*(1)		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)		ACAAATACTCGAAGAAGAACA	0.358000													30	80					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833462	43833462	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:43833462G>A	ENST00000389420.3	-	18	2555	c.2556C>T	c.(2554-2556)ccC>ccT	p.P852P	ADAMTS20_ENST00000553158.1_Silent_p.P852P|ADAMTS20_ENST00000395541.2_Silent_p.P6P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	852	TSP type-1 2.					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)		ATGGTCCATAGGGGTCCCATG	0.433000													64	98					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486781	180486781	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:180486781G>A	ENST00000327705.9	+	11	1758	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	BTNL9_ENST00000376842.3_Silent_p.G510G	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	509	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTTAGAGGGACGGGCGTCC	0.697000													17	14					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108110643	108110643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108110643C>T	ENST00000273353.3	-	38	5510	c.5454G>A	c.(5452-5454)atG>atA	p.M1818I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1818						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						TTCTACTCCCCATCAGGGCCA	0.463000													96	172					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622040	2622040	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:2622040A>T	ENST00000399655.1	+	9	1545	c.1280A>T	c.(1279-1281)aAg>aTg	p.K427M	CACNA1C_ENST00000406454.3_Missense_Mutation_p.K427M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K427M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K427M|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K427M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K427M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K427M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K427M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K427M	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	427					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)	CTGCGGGAGAAGCAGCAGCTA	0.557000													20	19					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123273331	123273331	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:123273331T>G	ENST00000253079.6	+	5	869	c.525T>G	c.(523-525)aaT>aaG	p.N175K	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.N175K|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	175						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGGCAGTTAATCACATTGCAG	0.333000													51	81					0	0	1	0	0
TOMM7	54543	broad.mit.edu	37	7	22852734	22852734	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:22852734A>C	ENST00000372879.4	-	4	371	c.360T>G	c.(358-360)tgT>tgG	p.C120W	TOMM7_ENST00000358435.4_3'UTR|TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000405021.3_3'UTR			Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)	0					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			skin(1)	1						GCCAGAGCACACATCTTCCAT	0.443000													42	59					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983804	110983804	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:110983804G>A	ENST00000354300.3	-	3	771	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	161	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TGACAACCAGGAAGCCTGAAT	0.547000													42	61					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592936	158592936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158592936G>A	ENST00000368148.3	-	43	6137	c.5957C>T	c.(5956-5958)cCc>cTc	p.P1986L	SPTA1_ENST00000368147.3_Missense_Mutation_p.P1983L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1986					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)					AGTGATCTCGGGAAGTCTCTC	0.502000													291	445					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652299	88652299	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:88652299G>A	ENST00000340700.5	-	7	1648	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	KCNK10_ENST00000312350.5_Silent_p.V404V|KCNK10_ENST00000319231.5_Silent_p.V404V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	399					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						GGGCAGCAAAGACAGAGCGCT	0.677000													51	97					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7774673	7774673	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:7774673C>T	ENST00000420658.1	-	16	2399	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.K625K|AFAP1_ENST00000382543.3_Silent_p.K709K|AFAP1_ENST00000360265.4_Silent_p.K625K	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	646						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTCCGCCTCCTTCTGCCGGC	0.657000													23	43					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916138	33916138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:33916138G>A	ENST00000389232.4	+	20	2558	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	RYR3_ENST00000415757.3_Missense_Mutation_p.D830N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	830					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATAAACGTGATGCTGATGG	0.478000													64	146					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752552	76752552	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:76752552G>A	ENST00000536229.3	+	1	871	c.162G>A	c.(160-162)gcG>gcA	p.A54A	SALL3_ENST00000537592.2_Silent_p.A187A|SALL3_ENST00000575389.2_Silent_p.A187A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGCGCGCGCGGCAGGCGGCT	0.721000													6	6					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101736074	101736074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:101736074G>A	ENST00000251127.6	-	31	3652	c.3571C>T	c.(3571-3573)Ccg>Tcg	p.P1191S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1191						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGCGAGGCGGAAGATGAAGA	0.473000													31	49					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230727	36230727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:36230727C>T	ENST00000303965.4	-	2	871	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	128					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCACTGTCTTCAAGATTTTTT	0.448000													53	71					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604735	13604735	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:13604735T>C	ENST00000040738.5	-	10	3924	c.3789A>G	c.(3787-3789)gaA>gaG	p.E1263E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1263							DNA binding										GAGCAACATGTTCTTCAGCAG	0.403000													13	25					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164502	26164502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:26164502G>A	ENST00000335473.7	+	4	869	c.619G>A	c.(619-621)Gag>Aag	p.E207K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E207K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E207K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	207						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCCAGCACCGAGATCTTGGC	0.597000													27	0					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513943	99513943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:99513943C>T	ENST00000261037.3	+	5	1578	c.1198C>T	c.(1198-1200)Cct>Tct	p.P400S	COL8A1_ENST00000273342.4_Missense_Mutation_p.P400S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	400	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATCCCAGGTCCTATGGGCCC	0.612000													18	16					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:59157987C>T	ENST00000262717.4	+	2	599	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_ENST00000536675.2_Silent_p.F67F|CDH20_ENST00000538374.1_Silent_p.F67F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000													83	122					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69033155	69033155	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:69033155G>A	ENST00000288368.4	+	30	3872		c.e30-1			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						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						TGTTTATTTAGAATTTCAACA	0.398000													13	24					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	107003646	107003646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:107003646G>A	ENST00000369066.3	+	15	4852	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	AIM1_ENST00000535438.1_Nonsense_Mutation_p.W274*	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1455	Beta/gamma crystallin 'Greek key' 10.						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)		ATTGTAGCTGGGTTGTATATG	0.418000													102	40					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656114	169656114	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:169656114G>A	ENST00000428432.2	+	9	1550	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	SAMD7_ENST00000335556.3_Silent_p.Q387Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	387	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGTATCTCAGCATGTGGGAA	0.338000													46	79					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119035981	119035981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:119035981G>A	ENST00000296499.5	+	4	1493	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	364	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGAAGATGAAGGAGATGACTG	0.418000													36	73					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366629	40366629	+	Silent	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:40366629T>G	ENST00000406785.1	-	7	2538	c.2349A>C	c.(2347-2349)ggA>ggC	p.G783G	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.G783G|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.G819G|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.G783G|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.G819G|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.G814G|SLC8A1_ENST00000542024.1_Silent_p.G783G|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.G783G|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.G811G|SLC8A1_ENST00000405901.3_Silent_p.G814G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	819					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCAGGTCTCCAATGAAAG	0.507000													27	39					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57501992	57501992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:57501992G>A	ENST00000300134.3	-	2	395	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	STAT6_ENST00000454075.3_Nonsense_Mutation_p.Q24*|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000556155.1_Nonsense_Mutation_p.Q24*|STAT6_ENST00000543873.2_Nonsense_Mutation_p.Q24*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	24					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CGCAGGTGTTGGGGAAAGTCG	0.587000													17	29					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:121980842C>T	ENST00000498619.1	+	4	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000490131.1_Silent_p.F320F|CASR_ENST00000296154.5_Silent_p.F320F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	320					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)	CCATTGGATTCGCTCTGAAGG	0.577000													39	56					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768652	51768652	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51768652C>A	ENST00000316401.7	+	3	434	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TCCTCTTGCTCCTTGGAGAAG	0.577000													132	131					1.51433e-70	1.53959e-70	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25925026	25925026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:25925026G>A	ENST00000356865.6	-	21	4073	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1321					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTCTCTTTGGGAGCACTGCA	0.572000													85	114					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48794651	48794651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:48794651G>A	ENST00000314191.2	-	38	4837	c.4781C>T	c.(4780-4782)gCc>gTc	p.A1594V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A1594V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1595					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTCAAAACGGCACTCACCTG	0.393000								Non-homologous end-joining					144	67					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677670	57677670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:57677670G>A	ENST00000402412.1	-	13	1498	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	R3HDM2_ENST00000347140.3_Missense_Mutation_p.L356F|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L356F|R3HDM2_ENST00000393811.2_Missense_Mutation_p.L83F|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L17F|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L356F|R3HDM2_ENST00000413953.2_Missense_Mutation_p.L83F|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	356						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCTCGGGTAAGGATAGAGATT	0.567000													133	188					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684053	33684053	+	Missense_Mutation	SNP	C	C	T	rs150194397		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:33684053C>T	ENST00000504830.1	-	4	1077	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V248M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	248	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGTCTCCACCCATCTCTCC	0.522000										HNSCC(64;0.19)			90	116					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73450573	73450573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:73450573C>T	ENST00000389501.4	+	9	841	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	266	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGTGGGTCCATGCCTGTGA	0.592000													83	113					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307302	102307302	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:102307302G>A	ENST00000369138.1	+	10	1948	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	GRIK2_ENST00000413795.1_Silent_p.G486G|GRIK2_ENST00000369137.3_Silent_p.G486G|GRIK2_ENST00000369134.4_Silent_p.G437G|GRIK2_ENST00000318991.6_Silent_p.G486G|GRIK2_ENST00000421544.1_Silent_p.G486G	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	486					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGAAGATGGGAAATATGGAG	0.383000													48	24					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851836	14851836	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:14851836A>G	ENST00000358984.4	+	36	3716	c.3536A>G	c.(3535-3537)cAt>cGt	p.H1179R		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1264										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCACACCATCCTAGACTG	0.413000													4	9					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55322305C>T	ENST00000314644.2	+	1	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)			72	112					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8138105	8138105	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:8138105G>C	ENST00000600128.1	-	62	8193	c.7779C>G	c.(7777-7779)tgC>tgG	p.C2593W	FBN3_ENST00000270509.2_Missense_Mutation_p.C2593W|FBN3_ENST00000601739.1_Missense_Mutation_p.C2593W			Q75N90	FBN3_HUMAN	fibrillin 3	2593	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGGCAGACGCAGCGGAAGC	0.647000													34	52					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519873	69519873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69519873C>T	ENST00000338206.5	-	5	1204	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	399					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCATGTTGATCCGCAAACAAG	0.463000													57	272					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214625207	214625207	+	Silent	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:214625207A>C	ENST00000366956.5	-	3	479	c.285T>G	c.(283-285)ctT>ctG	p.L95L	PTPN14_ENST00000543945.1_Silent_p.L95L	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	95	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCCAAAGAAAAGCAAAGGCT	0.478000													88	46					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	602524	602524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:602524C>T	ENST00000219611.2	+	11	3094	c.2731C>T	c.(2731-2733)Ccc>Tcc	p.P911S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACCCCTGCCCCCCAGGGTAC	0.711000													12	12					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	G	A	rs140313224		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11666863G>A	ENST00000262442.3	+	36	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(1)		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)		CTGCCCTAAGGAAATTTATGA	0.493000													60	73					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256482	146256482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:146256482G>A	ENST00000367503.3	-	12	3063	c.2665C>T	c.(2665-2667)Cct>Tct	p.P889S	SHPRH_ENST00000367505.2_Missense_Mutation_p.P889S|SHPRH_ENST00000275233.7_Missense_Mutation_p.P889S|SHPRH_ENST00000438092.2_Missense_Mutation_p.P889S	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	889					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGATGCTGAGGATTCTTCTTG	0.398000													47	12					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	49977200	49977200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:49977200G>A	ENST00000046087.2	-	8	1049	c.980C>T	c.(979-981)tCa>tTa	p.S327L	ZPBP_ENST00000419417.1_Missense_Mutation_p.S326L|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	327					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGGGTTATATGATCCAGGGCT	0.353000													80	124					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710379	71710379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:71710379G>A	ENST00000393524.2	-	8	2175	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	PHLPP2_ENST00000356272.3_Missense_Mutation_p.S481F|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S481F|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S481F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S516F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	481						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						GGTCCGAAGGGAAAAGCCACT	0.498000													35	50					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154558739	154558739	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:154558739G>A	ENST00000368474.4	-	12	3319	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I	ADAR_ENST00000368471.3_Silent_p.I745I|ADAR_ENST00000292205.5_Silent_p.I1083I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1040	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCAGCGTAGGATTTTGTCAC	0.552000													81	87					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399415	89399415	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:89399415G>A	ENST00000479981.1	-	0	314																											GGCTGCTGATGGTGAGAGTGA	0.493000													65	136					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629232	129629232	+	RNA	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:129629232T>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							GTGTTATCCTTCCACGACAGC	0.498000													59	85					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984355	120984355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:120984355G>A	ENST00000325954.4	+	2	766	c.305G>A	c.(304-306)gGc>gAc	p.G102D	RNF10_ENST00000413266.2_Missense_Mutation_p.G102D	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	102	Interaction with MEOX2.|Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGGCGGCAGCAGCAAA	0.443000													41	81					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757633	11757633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11757633G>A	ENST00000262442.3	+	50	9889	c.9821G>A	c.(9820-9822)aGa>aAa	p.R3274K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3274K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3274	Stalk (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)		AATATTGTGAGATTTTATGAG	0.542000													64	130					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102853	50102853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:50102853C>T	ENST00000418929.2	+	5	4015	c.4003C>T	c.(4003-4005)Ccc>Tcc	p.P1335S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	514							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGTGCCACATCCCCCACCTTC	0.697000													9	8					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417917	17417917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:17417917C>T	ENST00000470360.1	+	11	1613	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L	SLC7A2_ENST00000398090.3_Missense_Mutation_p.S499L|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S460L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S460L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S500L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	460					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)	AGGGTAACCTCGAAGAGTGAG	0.537000													62	14					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086575	53086575	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:53086575C>T	ENST00000341809.3	-	6	1198	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.Q157Q	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	390	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGCAGCCTCTGGACGGTGC	0.592000													43	66					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067485	15067485	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:15067485C>T	ENST00000430939.2	-	6	909	c.780G>A	c.(778-780)ggG>ggA	p.G260G	SLC1A6_ENST00000221742.3_Silent_p.G324G|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	324					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCAGAATCTTCCCAGCAATCA	0.597000													41	83					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790085	248790085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248790085C>T	ENST00000330803.2	-	1	406	c.345G>A	c.(343-345)atG>atA	p.M115I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			AGTCATAGGCCATGAGGCCCA	0.512000													37	90					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146255	156146255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156146255G>A	ENST00000368285.3	+	15	2020	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	SEMA4A_ENST00000368284.1_Missense_Mutation_p.A453T|SEMA4A_ENST00000355014.2_Missense_Mutation_p.A585T|SEMA4A_ENST00000368286.2_Missense_Mutation_p.A453T|SEMA4A_ENST00000368282.1_Missense_Mutation_p.A585T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	585	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCACCTGTCAGCCTTGGCCTC	0.532000													39	48					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100920673	100920673	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:100920673T>C	ENST00000325455.5	-	6	3928	c.2475A>G	c.(2473-2475)ttA>ttG	p.L825L	PGR_ENST00000263463.5_Silent_p.L723L|PGR_ENST00000534013.1_Silent_p.L231L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	825	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.L825L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TATTAAGAAGTAACAATACTT	0.328000													32	43					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741658	52741658	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:52741658C>T	ENST00000306051.2	+	2	1158	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	352						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCAGCAATTCCACTAACATGG	0.368000													10	17					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100402952	100402952	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:100402952C>T	ENST00000372927.1	+	19	2173	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	CENPI_ENST00000218507.5_Silent_p.F632F|CENPI_ENST00000423383.1_Silent_p.F632F	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	632					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGTTCAATTTCAGCAGCAAGA	0.363000													53	93					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712502	218712502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:218712502G>A	ENST00000171887.4	-	17	2815	c.2363C>T	c.(2362-2364)cCt>cTt	p.P788L	TNS1_ENST00000430930.1_Missense_Mutation_p.P788L|TNS1_ENST00000419504.1_Missense_Mutation_p.P788L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	788						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGCCAGGAGGGACAGACTC	0.577000													49	79					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28511789	28511789	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:28511789T>G	ENST00000247026.5	+	7	837	c.774T>G	c.(772-774)gaT>gaG	p.D258E	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	258					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GTGCGGATGATGAAATAGAAG	0.443000													28	32					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792827	21792827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:21792827G>A	ENST00000307974.4	+	1	39	c.39G>A	c.(37-39)tgG>tgA	p.W13*	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E605K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E605K|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E567K|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	0					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GTTATGTTTGGAAACACTGCC	0.483000													63	107					0	0	1	0	0
WTAPP1	100288077	broad.mit.edu	37	11	102702784	102702784	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:102702784G>A	ENST00000525739.2	+	0	1347					NR_038390.1																						GAAGACAAACGGGAACAAGCC	0.493000													12	23					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58525003	58525003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:58525003G>A	ENST00000083182.3	-	13	1984	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	566					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTCTTCAGTGGACTGGGGGCT	0.493000													151	236					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060276	46060276	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:46060276A>T	ENST00000295452.4	-	7	1041	c.874T>A	c.(874-876)Ttt>Att	p.F292I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	292					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGATCCAAAAAGACACCCAA	0.343000													58	73					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132425303	132425303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:132425303C>T	ENST00000304858.2	+	11	1583	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	432					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTAAAGTTCTTACATTTTA	0.388000													20	27					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18991213	18991213	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:18991213G>A	ENST00000427170.2	-	4	693	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Silent_p.L208L|CERS1_ENST00000542296.2_Silent_p.L110L	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	208	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						ATATCGTGCAGGAAGAGCACA	0.582000													12	8					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182009	57182009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:57182009G>A	ENST00000504228.1	+	6	2446	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E774K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E781K			Q6ZU35	K1211_HUMAN	KIAA1211	781										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GATGCACCGGGAGCCCGCAGA	0.622000													53	71					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101188810	101188810	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:101188810T>C	ENST00000294728.2	+	3	676	c.575T>C	c.(574-576)gTt>gCt	p.V192A	VCAM1_ENST00000370119.4_Missense_Mutation_p.V130A|VCAM1_ENST00000347652.2_Missense_Mutation_p.V192A|VCAM1_ENST00000370115.1_Missense_Mutation_p.V192A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	192	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATTGGAAAAGTTCTTGTTTGC	0.418000													49	77					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921187	24921187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:24921187G>A	ENST00000329468.2	+	1	647	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCCGTCGCAGGCCTTCAGCA	0.746000													34	48					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963443	28963443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:28963443G>A	ENST00000377179.3	-	7	1848	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCACACTGGGGACACCCATAG	0.498000													60	150					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171380	214171380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:214171380C>T	ENST00000366958.4	+	2	2110	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	PROX1_ENST00000498508.2_Missense_Mutation_p.S501F|PROX1_ENST00000261454.4_Missense_Mutation_p.S501F|PROX1_ENST00000435016.1_Missense_Mutation_p.S501F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	501					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGTGCTCCCTCCGGCTCCTTC	0.562000													121	70					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47776895	47776895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:47776895C>T	ENST00000359568.5	+	13	2050	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	648	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACAGAGCTTCCCTGGGTGCAT	0.607000													67	82					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632212	9632212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:9632212C>T	ENST00000570827.2	+	15	3418	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	USP43_ENST00000285199.6_Missense_Mutation_p.P1093S|USP43_ENST00000570475.1_Missense_Mutation_p.P1088S			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1093					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AAGGACTGTTCCAGGGGAGCA	0.547000													51	74					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245226	119245226	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:119245226A>G	ENST00000316316.6	-	3	657	c.371T>C	c.(370-372)tTa>tCa	p.L124S	MCM9_ENST00000316068.3_Missense_Mutation_p.L124S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	124					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGTGACAGATAAAAAGTGTCC	0.438000													235	63					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226088	24226088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:24226088G>A	ENST00000303531.7	+	17	2125	c.1973G>A	c.(1972-1974)gGa>gAa	p.G658E	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	659	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)	GAATTCGAAGGATTTTCCTTT	0.428000													45	69					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044893	35044893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:35044893G>A	ENST00000312292.5	+	2	2314	c.2267G>A	c.(2266-2268)gGg>gAg	p.G756E	C9orf131_ENST00000421362.2_Missense_Mutation_p.G708E|C9orf131_ENST00000354479.5_Missense_Mutation_p.G683E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	756										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACGTGCCCAGGGGTTAAGGCA	0.582000													57	29					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207634	81207634	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:81207634G>A	ENST00000312465.7	+	3	841	c.615G>A	c.(613-615)cgG>cgA	p.R205R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCAGCCCCCGGGTTAAACCCC	0.473000													64	82					0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19192312	19192312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:19192312G>A	ENST00000265807.3	+	4	868	c.457G>A	c.(457-459)Gag>Aag	p.E153K	SH2D4A_ENST00000518040.1_Missense_Mutation_p.E108K|SH2D4A_ENST00000519207.1_Missense_Mutation_p.E153K	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	153						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGCAGAAAAGGAGGAACTGGA	0.473000													43	13					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35199555	35199555	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:35199555A>C	ENST00000274938.7	+	4	388	c.388A>C	c.(388-390)Atg>Ctg	p.M130L	SCUBE3_ENST00000394681.1_Missense_Mutation_p.M130L	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	130	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGTGTCAACATGATGGGCAG	0.597000													54	150					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910323	77910323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:77910323G>A	ENST00000302536.2	+	5	932	c.779G>A	c.(778-780)gGa>gAa	p.G260E	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	260							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GACAACACTGGAAAAGGTCTC	0.463000													95	146					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471028	31471028	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31471028C>T	ENST00000457010.2	+	1	884	c.183C>T	c.(181-183)ttC>ttT	p.F61F	ARMC5_ENST00000563544.1_Silent_p.F61F|ARMC5_ENST00000538189.1_Silent_p.F93F|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Silent_p.F61F|ARMC5_ENST00000408912.3_Silent_p.F156F	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	61							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGAGCGCTTCCGGGCACGCG	0.746000													18	15					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5630351	5630351	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:5630351G>A	ENST00000310917.2	-	12	2312	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	EVC2_ENST00000344938.1_Silent_p.T607T|EVC2_ENST00000344408.5_Silent_p.T607T	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	607						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTGCACACGGGTCTCTGATG	0.502000													55	84					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077009	10077009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:10077009G>A	ENST00000264828.3	-	64	4848	c.4763C>T	c.(4762-4764)cCc>cTc	p.P1588L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1588	Fibrillar collagen NC1.				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)			CTTCTTGTCGGGATAGAGGCA	0.592000													49	61					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113537790	113537790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:113537790C>T	ENST00000546530.1	-	22	2650	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	RASAL1_ENST00000446861.3_Missense_Mutation_p.E759K|RASAL1_ENST00000548055.1_Missense_Mutation_p.E788K|RASAL1_ENST00000261729.5_Missense_Mutation_p.E787K	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	787					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGAACTCCTCGTGGGCACGA	0.667000													51	63					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	602523	602523	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:602523C>T	ENST00000219611.2	+	11	3093	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCACCCCTGCCCCCCAGGGTA	0.706000													12	13					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483602	31483602	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:31483602C>T	ENST00000322054.5	+	4	1014	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	243					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592000													39	43					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642884	104642884	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:104642884G>A	ENST00000315264.7	+	11	3720	c.3342G>A	c.(3340-3342)caG>caA	p.Q1114Q	KIF26A_ENST00000423312.2_Silent_p.Q1253Q			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1253					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGATACCCAGGCAGCTTCTG	0.692000													54	63					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789836	4789836	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:4789836C>T	ENST00000355280.6	+	10	1060	c.864C>T	c.(862-864)ttC>ttT	p.F288F	MINK1_ENST00000453408.3_Silent_p.F288F|MINK1_ENST00000347992.7_Silent_p.F288F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	288	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTTTCCCTTCATCCGGGACC	0.557000													81	108					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	33					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852823	22852823	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:22852823C>T	ENST00000404138.1	+	19	4165	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZBTB40_ENST00000374651.4_Silent_p.L1106L|ZBTB40_ENST00000375647.4_Silent_p.L1218L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1218					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTCTGAGCTCGTGGCGGTGA	0.582000													105	163					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	C	T	rs145911444	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92734352C>T	ENST00000379958.2	-	3	1328	c.1059G>A	c.(1057-1059)acG>acA	p.T353T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000													36	61					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732117	119732117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:119732117C>T	ENST00000541757.1	+	7	735	c.355C>T	c.(355-357)Cca>Tca	p.P119S	MARCO_ENST00000327097.4_Missense_Mutation_p.P197S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	197					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACCCCAAGGCCCACCGGGAGT	0.552000													20	32					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935544	30935544	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:30935544T>C	ENST00000355537.3	+	2	1222	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	359					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)					CCAGGCGTGGTTCCTCAAGGG	0.647000													113	188					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016259	50016259	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:50016259T>A	ENST00000322246.4	-	1	105	c.106A>T	c.(106-108)Atc>Ttc	p.I36F		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	36					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTGTGCTGATTTTCTCTGTC	0.313000													41	92					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901387	13901387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:13901387G>A	ENST00000265104.4	-	14	2130	c.2026C>T	c.(2026-2028)Ctc>Ttc	p.L676F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	676	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)					CTGTGGAAGAGGACCTCAAAC	0.498000									Kartagener syndrome				31	45					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401202	114401202	+	Silent	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:114401202G>C	ENST00000536312.1	-	6	1420	c.528C>G	c.(526-528)gtC>gtG	p.V176V	NXPE1_ENST00000424269.1_Silent_p.V176V|NXPE1_ENST00000251921.2_Silent_p.V34V					neurexophilin and PC-esterase domain family, member 1																		GAGACAGGGAGACCTGGCCCT	0.537000													32	80					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649896	136649896	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:136649896A>G	ENST00000287538.5	+	1	1596	c.1046A>G	c.(1045-1047)aAg>aGg	p.K349R	ZIC3_ENST00000370606.3_Missense_Mutation_p.K349R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	349	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AAGATCCACAAGAGGACCCAC	0.617000													90	114					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56466505G>A	ENST00000291971.3	+	3	1152	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E361K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT.					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)		TAATACGATGGAAAAAATCAA	0.463000													84	112					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824868	29824868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:29824868G>A	ENST00000300797.6	+	2	667	c.493G>A	c.(493-495)Gac>Aac	p.D165N	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.D165N|PRRT2_ENST00000567659.1_Missense_Mutation_p.D165N|PRRT2_ENST00000567551.1_Intron			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	165	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCAGGAGGACCCCACCCC	0.642000													26	44					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555479	179555479	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:179555479G>A	ENST00000393371.2	-	4	866	c.570C>T	c.(568-570)atC>atT	p.I190I	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Silent_p.I39I|RASGEF1C_ENST00000361132.4_Silent_p.I190I			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	190					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCCTGTGGATGGAGGCTG	0.647000													58	80					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157430	231157430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:231157430G>A	ENST00000392045.3	+	20	2009	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	SP140_ENST00000486687.2_Missense_Mutation_p.G556E|SP140_ENST00000350136.5_Missense_Mutation_p.G501E|SP140_ENST00000417495.3_Missense_Mutation_p.G518E|SP140_ENST00000343805.6_Missense_Mutation_p.G572E|SP140_ENST00000420434.3_Missense_Mutation_p.G605E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	632	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAATCAAAGGAGGCCATGCA	0.522000													55	66					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179210	55179210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55179210G>A	ENST00000391736.1	+	13	1481	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Missense_Mutation_p.R388K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R389K|LILRB4_ENST00000391733.3_Missense_Mutation_p.R390K	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	389						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)		ACAAAGGACAGACAGGCAGAA	0.587000													39	69					0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8866624	8866624	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:8866624G>A	ENST00000357529.3	+	3	1424	c.162G>A	c.(160-162)gaG>gaA	p.E54E	RIMKLB_ENST00000538135.1_Silent_p.E54E|RIMKLB_ENST00000535829.1_Silent_p.E54E|RIMKLB_ENST00000299673.5_3'UTR	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	54					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGACAATCGAGCAAGGAAACC	0.403000													3	64					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511147	104511147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:104511147G>A	ENST00000304883.2	-	5	1230	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	364						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGCTCGAAATCTGAGG	0.428000													7	22					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389128	160389128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:160389128C>T	ENST00000368061.2	+	4	1003	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	177					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGCTGCCCCGCGTCTTTGT	0.627000													82	93					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834437	125834437	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:125834437C>A	ENST00000299308.3	+	2	500	c.492C>A	c.(490-492)ttC>ttA	p.F164L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	164						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTTTGCTTTCCCTGAGGCCA	0.587000													42	96					1.74474e-33	1.76567e-33	1	1	0
TCL1A	8115	broad.mit.edu	37	14	96178727	96178727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:96178727C>T	ENST00000402399.1	-	2	256	c.127G>A	c.(127-129)Gat>Aat	p.D43N	TCL1A_ENST00000556450.1_Missense_Mutation_p.D43N|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.D43N|TCL1A_ENST00000554012.1_Missense_Mutation_p.D43N	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	43					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGTAACCTATCCTTTATCTGA	0.572000			T	TRA@	T-CLL								34	52					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396831	55396831	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55396831C>T	ENST00000355524.3	+	3	265	c.255C>T	c.(253-255)ttC>ttT	p.F85F	FCAR_ENST00000391724.3_Silent_p.F73F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Silent_p.F73F|FCAR_ENST00000469767.1_Silent_p.F85F|FCAR_ENST00000391726.3_Silent_p.F73F|FCAR_ENST00000345937.4_Silent_p.F85F|FCAR_ENST00000359272.4_Silent_p.F73F|FCAR_ENST00000391725.3_Silent_p.F85F|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	85	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATCCTGAGTTCGTCATTGACC	0.488000													45	59					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671339	39671339	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:39671339A>G	ENST00000398930.1	+	4	510	c.156A>G	c.(154-156)caA>caG	p.Q52Q	KCNJ15_ENST00000398934.1_Silent_p.Q52Q|KCNJ15_ENST00000328656.3_Silent_p.Q52Q|KCNJ15_ENST00000398932.1_Silent_p.Q52Q|KCNJ15_ENST00000398938.2_Silent_p.Q52Q			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	52					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCTACCTGCAAGACCTGTGGA	0.507000													13	177					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123515034	123515034	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:123515034C>T	ENST00000422452.2	-	32	7614	c.7551G>A	c.(7549-7551)ggG>ggA	p.G2517G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2510G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGGTTGCTTCCCTCCTTCAA	0.448000													102	149					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417689	46417689	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:46417689A>C	ENST00000341294.2	-	1	347	c.263T>G	c.(262-264)gTg>gGg	p.V88G		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	88					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GGGACACACCACCACGCCATC	0.647000													48	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440691	179440691	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179440691T>C	ENST00000589042.1	-	326	70392	c.70168A>G	c.(70168-70170)Aac>Gac	p.N23390D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N14450D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N14517D|TTN_ENST00000342992.6_Missense_Mutation_p.N20822D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N14325D|TTN_ENST00000591111.1_Missense_Mutation_p.N21749D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21749	Fibronectin type-III 70.						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)			TTTTCAATGTTGGCTCGGTTT	0.403000													103	156					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73491222	73491222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:73491222G>A	ENST00000326291.6	+	13	1986	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	550						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGTTGAAAATGAAGATGAGGC	0.308000													52	65					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825433	74825433	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:74825433G>A	ENST00000256362.4	+	2	2188	c.1947G>A	c.(1945-1947)acG>acA	p.T649T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	649					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCGCTACCACGAAGTTCAAGG	0.612000													43	55					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173108	5173108	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5173108C>T	ENST00000380367.1	-	2	909	c.492G>A	c.(490-492)ctG>ctA	p.L164L	OR52A1_ENST00000328942.1_Silent_p.L164L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	164					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCACTTTATCAGTACTAGGC	0.453000													72	76					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20955866	20955866	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20955866G>A	ENST00000261383.3	-	58	11462	c.11463C>T	c.(11461-11463)gtC>gtT	p.V3821V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3821					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGTCAGCAGGACCCCCTCAA	0.557000													65	96					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191301	149191301	+	Silent	SNP	G	G	A	rs139163284		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:149191301G>A	ENST00000461958.2	-	2	514	c.318C>T	c.(316-318)tcC>tcT	p.S106S	ZNF746_ENST00000340622.3_Silent_p.S106S|ZNF746_ENST00000458143.2_Silent_p.S106S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	106	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTACCTTAGGGGACTCCCCCT	0.657000													64	126					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40241392	40241392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:40241392C>T	ENST00000263791.5	+	4	479	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.H146Y|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.H146Y	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	146					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAAGTCTTTTCATGAAGAAAT	0.498000													96	99					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702970	30702970	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:30702970T>A	ENST00000256246.2	-	1	3638	c.3564A>T	c.(3562-3564)gaA>gaT	p.E1188D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1188										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)		CAATTTGATTTTCTTTTTCTA	0.313000													14	8					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37111138	37111138	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:37111138C>A	ENST00000263918.4	-	9	1131	c.1123G>T	c.(1123-1125)Ggt>Tgt	p.G375C	STRN_ENST00000379213.2_Missense_Mutation_p.G326C	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	375					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAAGGTGAACCCACAGATGGC	0.443000													35	32					7.53189e-24	7.60818e-24	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92732610	92732610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92732610G>A	ENST00000379958.2	-	3	3070	c.2801C>T	c.(2800-2802)tCa>tTa	p.S934L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	934						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGATAGTGAAATGGTGGT	0.398000													13	21					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918948	12918948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12918948G>A	ENST00000240189.2	+	2	171	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	28										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCATGGAGGAGCTGC	0.607000													88	199					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62783684	62783684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:62783684C>A	ENST00000280377.5	+	14	1818	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	USP15_ENST00000393654.3_Nonsense_Mutation_p.S562*|USP15_ENST00000353364.3_Nonsense_Mutation_p.S558*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	587					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S558*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTGGTTCTTCACTTTTTGGT	0.393000													45	52					1.03325e-14	1.04084e-14	1	1	0
ELMO1	9844	broad.mit.edu	37	7	37311465	37311465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:37311465C>T	ENST00000310758.4	-	5	862	c.215G>A	c.(214-216)gGc>gAc	p.G72D	ELMO1_ENST00000442504.1_Missense_Mutation_p.G72D|ELMO1_ENST00000448602.1_Missense_Mutation_p.G72D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	72					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGGATAGTGCCATTTTTTAT	0.358000													34	84					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084811	248084811	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248084811C>T	ENST00000319968.4	+	1	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCTGAGCTTCCCATATTGCG	0.577000													14	29					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857562	124857562	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124857562A>G	ENST00000529051.1	+	8	1699	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	CCDC15_ENST00000344762.5_Silent_p.L480L			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	480						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTATCTAGAGACC	0.408000													4	168					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585807	82585807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:82585807G>A	ENST00000423517.2	-	5	4799	c.4462C>T	c.(4462-4464)Cct>Tct	p.P1488S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1488S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1419					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						TTGCTGGAAGGAATATCTTGT	0.348000													17	27					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204913473	204913473	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:204913473C>T	ENST00000367172.4	+	3	358	c.30C>T	c.(28-30)gtC>gtT	p.V10V	NFASC_ENST00000338586.6_Silent_p.V10V|NFASC_ENST00000404907.1_Silent_p.V10V|NFASC_ENST00000339876.6_Silent_p.V10V|NFASC_ENST00000338515.6_Silent_p.V10V|NFASC_ENST00000513543.1_Silent_p.V10V|NFASC_ENST00000367170.4_Silent_p.V10V|NFASC_ENST00000539706.1_Silent_p.V10V|NFASC_ENST00000404076.1_Silent_p.V10V|NFASC_ENST00000367171.4_Silent_p.V10V|NFASC_ENST00000401399.1_Silent_p.V10V|NFASC_ENST00000360049.4_Silent_p.V10V|NFASC_ENST00000367169.4_Silent_p.V10V|NFASC_ENST00000403080.1_Silent_p.V10V			O94856	NFASC_HUMAN	neurofascin	10					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCCCTGGGTCCATGCAGCCT	0.607000													42	18					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64699324	64699324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:64699324C>T	ENST00000164133.2	+	11	1722	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	367					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CGCTGTGTTTCCAGCCCCCAT	0.552000													52	81					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809473	18809473	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:18809473G>A	ENST00000400664.1	+	1	2050	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	666						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGCAAGGACCGCACGG	0.682000													20	36					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:47426121C>T	ENST00000377045.4	+	7	835	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S214F(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAAC	0.662000													40	48					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56539800G>A	ENST00000390649.3	+	7	2201	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734						mitochondrion|nucleolus	ATP binding	p.R734P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507000													141	217					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97329700	97329700	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:97329700T>G	ENST00000389672.5	+	13	2612		c.e13+2		EPHA6_ENST00000442602.2_Splice_Site|EPHA6_ENST00000514100.1_Splice_Site|EPHA6_ENST00000502694.1_Splice_Site	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							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						TTTTTGCGGGTGAGGTGTTCT	0.338000													28	42					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935766	151935766	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:151935766T>G	ENST00000393902.3	-	3	968	c.401A>C	c.(400-402)gAa>gCa	p.E134A	MAGEA3_ENST00000370278.3_Missense_Mutation_p.E134A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	134	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCATTTCTGCCTTTGT	0.522000													98	164					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093103	69093103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:69093103G>A	ENST00000295379.1	-	2	1093	c.935C>T	c.(934-936)gCc>gTc	p.A312V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	312					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCTGATTCGGGCAGTGGAGTC	0.522000													31	35					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35749341	35749341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:35749341C>T	ENST00000400441.3	-	16	2074	c.2075G>A	c.(2074-2076)gGa>gAa	p.G692E	MROH8_ENST00000217333.8_Missense_Mutation_p.G521E|MROH8_ENST00000441008.2_Missense_Mutation_p.G678E					maestro heat-like repeat family member 8																		GCCATCTTTTCCTCCCAGGAG	0.453000													32	46					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190730	48190730	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:48190730C>T	ENST00000400384.2	+	2	1438	c.402C>T	c.(400-402)ctC>ctT	p.L134L	MAPK4_ENST00000592595.1_Silent_p.L134L|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.L134L	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	134	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)		ACCAGCTGCTCCGCGGGCTCA	0.602000													55	61					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153891	101153891	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:101153891A>G	ENST00000428847.2	-	2	907	c.591T>C	c.(589-591)ttT>ttC	p.F197F		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	197					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTGCCCTGGAAAAACCTGAAG	0.323000													52	28					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169537	10169537	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:10169537C>T	ENST00000495140.1	+	0	1937																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GAGAAAACTTCCCGACATTCA	0.572000													68	75					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161928361	161928361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:161928361C>T	ENST00000367942.3	+	16	1997	c.1930C>T	c.(1930-1932)Caa>Taa	p.Q644*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	644					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCAGAGGAATCAAACCAACAC	0.517000													91	132					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237300953	237300953	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:237300953C>T	ENST00000409907.3	-	10	1525	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	IQCA1_ENST00000309507.5_Silent_p.Q413Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Silent_p.Q376Q			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	417	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GATCATAGTCCTGAGAGAAAT	0.338000													3	7					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159572931	159572931	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:159572931G>A	ENST00000307765.5	+	18	2249	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	RXFP1_ENST00000470033.1_Silent_p.V633V|RXFP1_ENST00000460056.2_Silent_p.V585V|RXFP1_ENST00000343542.5_Silent_p.V618V|RXFP1_ENST00000448688.2_Silent_p.V561V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	666						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTGGGTAGTGATTTTTATTC	0.328000													39	48					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170229	58170229	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:58170229G>A	ENST00000309403.2	-	1	653	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATAAAAATGAATGTGTAGG	0.398000													28	37					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242085	102242085	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:102242085A>C	ENST00000343737.5	+	6	696	c.568A>C	c.(568-570)Acc>Ccc	p.T190P		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	190					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGGCAGCTGCACCACGCAGAC	0.647000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	9					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35492257	35492257	+	Missense_Mutation	SNP	C	C	T	rs139194536		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:35492257C>T	ENST00000378880.2	-	5	1049	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Missense_Mutation_p.E162K|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.E202K	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	202	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GCTGGCCGCTCGTTGCCACAG	0.517000													53	56					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084267	107084267	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107084267G>A	ENST00000262843.6	+	2	920	c.372G>A	c.(370-372)agG>agA	p.R124R	MID2_ENST00000443968.2_Silent_p.R124R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	124						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCCGGGAAAGGACTTACAGGC	0.532000													31	65					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178565	31178565	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:31178565C>T	ENST00000349752.5	-	6	1212	c.573G>A	c.(571-573)caG>caA	p.Q191Q	GALNT14_ENST00000406653.1_Silent_p.Q171Q|GALNT14_ENST00000356174.3_Silent_p.Q158Q|GALNT14_ENST00000420311.2_Silent_p.Q156Q|GALNT14_ENST00000324589.5_Silent_p.Q196Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	191	Catalytic subdomain A.					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)					GAGTGGTGCCCTGGGCGATGT	0.602000													37	56					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417298	54417298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:54417298C>T	ENST00000245451.4	-	4	1072	c.679G>A	c.(679-681)Gag>Aag	p.E227K	BMP4_ENST00000417573.1_Missense_Mutation_p.E227K|BMP4_ENST00000559087.1_Missense_Mutation_p.E227K|BMP4_ENST00000558984.1_Missense_Mutation_p.E227K	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	227					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCTGCTTCTCCCGGGTCCAG	0.567000													101	155					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168369	36168369	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36168369C>T	ENST00000357641.6	+	2	523	c.270C>T	c.(268-270)tcC>tcT	p.S90S	BRPF3_ENST00000339717.7_Silent_p.S90S|BRPF3_ENST00000534694.1_Silent_p.S90S|BRPF3_ENST00000443324.2_Silent_p.S90S|BRPF3_ENST00000534400.1_Silent_p.S90S|BRPF3_ENST00000543502.1_Silent_p.S90S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	90					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGCAAGTCCAAGAAACCCT	0.483000													49	121					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237851	56237851	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:56237851G>A	ENST00000312240.2	-	1	163	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATCATGCCGATATTGCCCA	0.438000													80	110					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482823	152482823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:152482823G>A	ENST00000356661.5	-	3	406	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	63			A -> T (in dbSNP:rs2233044).			cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGGAAAGGCGGAGGCTCC	0.622000													86	131					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7177764	7177764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:7177764G>A	ENST00000217961.4	+	5	992	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	258					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATGTCCTATGACAATCTCAC	0.507000									Ichthyosis				81	212					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000374	219000374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:219000374G>A	ENST00000318507.2	+	3	1277	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	284					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGTGATCCAGGAGACCTGTGA	0.597000													50	56					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958681	78958681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:78958681G>A	ENST00000370756.3	+	2	490	c.253G>A	c.(253-255)Gga>Aga	p.G85R	PTGFR_ENST00000370758.1_Missense_Mutation_p.G85R|PTGFR_ENST00000370757.3_Missense_Mutation_p.G85R	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	85					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCTCATCAATGGAGCCATAGC	0.413000													84	131					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141324	239141324	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:239141324C>T	ENST00000456601.1	+	0	906																											ATTAATCCAGCCATGATGGCT	0.527000													12	26					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834907	61834907	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:61834907T>G	ENST00000280772.1	-	37	5923	c.5732A>C	c.(5731-5733)gAc>gCc	p.D1911A	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1911					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCGCATTAGGTCCTCTTTCAT	0.443000													9	9					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116513	28116513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:28116513C>T	ENST00000535992.1	-	3	638	c.292G>A	c.(292-294)Gat>Aat	p.D98N	PTHLH_ENST00000354417.3_Missense_Mutation_p.D98N|PTHLH_ENST00000201015.4_Missense_Mutation_p.D98N|PTHLH_ENST00000538310.1_Missense_Mutation_p.D98N|PTHLH_ENST00000539239.1_Missense_Mutation_p.D98N|PTHLH_ENST00000545234.1_Missense_Mutation_p.D98N|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Missense_Mutation_p.D98N|PTHLH_ENST00000395868.3_Missense_Mutation_p.D98N			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	98					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CCCTCATCATCAGACCCAAAT	0.527000													101	144					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790565	4790565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:4790565G>A	ENST00000380383.1	-	1	603	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R195W			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	195						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)		CTATTTGCCCGAATGTCTGAA	0.388000													86	139					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:54537566G>A	ENST00000474759.1	+	5	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_ENST00000490478.1_Silent_p.G49G|CACNA2D3_ENST00000288197.5_Silent_p.G143G|CACNA2D3_ENST00000415676.2_Silent_p.G143G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(1)		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)		ACAAAGACGGGAATTTTTTGG	0.398000													64	24					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311323	117311323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:117311323G>A	ENST00000369478.3	+	5	1082	c.974G>A	c.(973-975)gGc>gAc	p.G325D		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	325	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAGCAGAAAGGCCCGCCCCTC	0.567000													78	132					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926975	130926975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:130926975C>T	ENST00000261655.4	-	8	1034	c.871G>A	c.(871-873)Gac>Aac	p.D291N	RIMBP2_ENST00000536002.1_Missense_Mutation_p.D199N|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D199N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	291						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTCCGATGTCGTCGATGTTC	0.587000													128	127					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26660710	26660710	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:26660710T>G	ENST00000256737.3	+	21	2915	c.2063T>G	c.(2062-2064)tTg>tGg	p.L688W	ANO3_ENST00000537978.1_Missense_Mutation_p.L672W|ANO3_ENST00000531568.1_Missense_Mutation_p.L542W|ANO3_ENST00000525139.1_Missense_Mutation_p.L672W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	688						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGTGGCTGTTTGATAGACCTC	0.408000													78	69					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32611948	32611948	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:32611948C>T	ENST00000338921.4	+	9	1300	c.783C>T	c.(781-783)ctC>ctT	p.L261L	NRG1_ENST00000523079.1_Silent_p.L250L|NRG1_ENST00000521670.1_Silent_p.L253L|NRG1_ENST00000287845.5_Silent_p.L224L|NRG1_ENST00000405005.2_Silent_p.L253L|NRG1_ENST00000287840.5_Silent_p.L253L|NRG1_ENST00000539990.1_Silent_p.L96L|NRG1_ENST00000356819.4_Silent_p.L258L|NRG1_ENST00000519301.1_Silent_p.L203L|NRG1_ENST00000287842.3_Silent_p.L250L|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	253				V -> L (in Ref. 9; ABQ53540).	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCATCGCCCTCCTTGTGGTCG	0.517000													40	12					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6046307	6046307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:6046307G>A	ENST00000378156.4	-	2	308	c.43C>T	c.(43-45)Cct>Tct	p.P15S	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	15					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGGGGAGGGACAAGCACG	0.577000													20	32					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21141554	21141554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21141554C>T	ENST00000377122.4	-	10	1324	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	310					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						CCTTTGTTTTCCTCAAAGAGC	0.383000													18	29					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													3	28					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114516050	114516050	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:114516050C>T	ENST00000369558.1	+	16	3781	c.3549C>T	c.(3547-3549)tcC>tcT	p.S1183S	HIPK1_ENST00000369561.4_Silent_p.S1149S|HIPK1_ENST00000406344.1_Silent_p.S789S|HIPK1_ENST00000369553.1_Silent_p.S789S|HIPK1_ENST00000340480.4_Silent_p.S809S|HIPK1_ENST00000369554.2_Silent_p.S1138S|HIPK1_ENST00000369555.2_Silent_p.S1138S|HIPK1_ENST00000426820.2_Silent_p.S1183S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		CCACCCAATCCTACATTGGGT	0.547000													115	187					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151786028	151786028	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:151786028G>A	ENST00000356728.6	-	6	1093	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Silent_p.F334F|RORC_ENST00000392697.3_Silent_p.F388F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	334	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTGGCGAACTCCACCA	0.612000													50	50					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52928427	52928427	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:52928427G>A	ENST00000295213.4	+	4	725	c.351G>A	c.(349-351)cgG>cgA	p.R117R	SPATA18_ENST00000419395.2_Silent_p.R117R|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	117					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCAGTCCTCGGGATCGGGATA	0.393000													70	119					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485242	97485242	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:97485242C>T	ENST00000376705.2	+	2	1230	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	402						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATCTAAACTTCCTGGACATGC	0.552000													64	107					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008006	39008006	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:39008006G>A	ENST00000355481.4	+	66	9824	c.9693G>A	c.(9691-9693)ggG>ggA	p.G3231G	RYR1_ENST00000359596.3_Silent_p.G3231G|RYR1_ENST00000360985.3_Silent_p.G3231G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3231					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)	CAGTCCTGGGGCTCCCCAACA	0.637000													58	59					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407684	407684	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:407684A>C	ENST00000256509.2	+	15	2279	c.1637A>C	c.(1636-1638)cAt>cCt	p.H546P	CHL1_ENST00000397491.2_Missense_Mutation_p.H530P|CHL1-AS1_ENST00000417612.1_RNA	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	530	Ig-like C2-type 6.				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)		CCCAAATTGCATATGCTTGAA	0.348000													34	9					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316556	45316556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:45316556G>A	ENST00000391955.1	+	5	598	c.554G>A	c.(553-555)tGg>tAg	p.W185*	BCAM_ENST00000270233.6_Nonsense_Mutation_p.W185*			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	185	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AAGATCACGTGGTATCGCAAC	0.682000													52	80					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9076887G>A	ENST00000397910.4	-	3	10762	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3521	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						CGCAGGAGATGAAGTCTGAGA	0.507000													91	190					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19014270	19014270	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:19014270C>T	ENST00000379878.3	-	26	2808	c.2566_splice	c.e26-1	p.G856_splice	GPR64_ENST00000379873.2_Splice_Site_p.G872_splice|GPR64_ENST00000357991.3_Splice_Site_p.G869_splice|GPR64_ENST00000379876.1_Splice_Site_p.G848_splice|GPR64_ENST00000360279.4_Splice_Site_p.G850_splice|GPR64_ENST00000354791.3_Splice_Site_p.G856_splice|GPR64_ENST00000340581.3_Splice_Site_p.G753_splice|GPR64_ENST00000356606.4_Splice_Site_p.G858_splice|GPR64_ENST00000357544.3_Splice_Site_p.G842_splice|GPR64_ENST00000379869.3_Splice_Site_p.G872_splice	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	872					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TATGAAAAATCCTAAGGAGGG	0.368000													58	66					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42914822	42914822	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42914822C>T	ENST00000244289.4	-	2	1332	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	352					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCAGGCGGCCCAGGGCCGGCT	0.692000													10	8					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7025601	7025601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:7025601C>T	ENST00000535366.1	+	2	732	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	ENO2_ENST00000229277.1_Missense_Mutation_p.P36S|ENO2_ENST00000544774.1_Missense_Mutation_p.P36S|ENO2_ENST00000541477.1_Missense_Mutation_p.P36S|ENO2_ENST00000538763.1_Missense_Mutation_p.P36S|ENO2_ENST00000545045.2_Missense_Mutation_p.P36S			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	36					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCTGCAGTGCCCAGTGGAGC	0.552000													10	23					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57823921	57823921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57823921G>A	ENST00000281282.5	+	14	3313	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1079						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAACTGGAAGAAGAGAGAAA	0.453000													97	95					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6656243	6656243	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:6656243C>T	ENST00000274192.5	+	3	747	c.513C>T	c.(511-513)atC>atT	p.I171I	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Silent_p.I124I	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	171					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CAGATCATATCCTAAGGAATC	0.373000													30	37					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427372	145427372	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:145427372A>C	ENST00000511217.1	+	5	1149	c.1097A>C	c.(1096-1098)cAt>cCt	p.H366P	SH3RF2_ENST00000359120.4_Missense_Mutation_p.H366P			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	366							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCAGGACATTCCACAGCC	0.557000													62	94					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502882	39502882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:39502882G>A	ENST00000265707.5	+	11	980	c.935G>A	c.(934-936)gGa>gAa	p.G312E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G288E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	312	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTTGGAGGGATTTTCGGTT	0.313000													49	15					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691164	44691164	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:44691164G>A	ENST00000290231.6	-	8	1679	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	505	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAGCCCTTGGGAAGGAGCCC	0.547000													23	33					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105847412	105847412	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:105847412A>G	ENST00000447393.1	+	12	1419	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	PACS2_ENST00000547217.1_Missense_Mutation_p.E385G|PACS2_ENST00000430725.2_Missense_Mutation_p.E340G|PACS2_ENST00000458164.2_Missense_Mutation_p.E415G|PACS2_ENST00000325438.8_Missense_Mutation_p.E415G	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	415					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCAAGACAGAGTCCCTTGTC	0.697000													26	28					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190289	50190289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:50190289G>A	ENST00000335999.6	-	8	1555	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	448	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCCTAGCTGGAGAGGGCAGA	0.632000													12	17					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89148295	89148295	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:89148295G>A	ENST00000554922.1	-	21	3311	c.3063C>T	c.(3061-3063)acC>acT	p.T1021T	EML5_ENST00000352093.5_Silent_p.T983T|EML5_ENST00000380664.5_Silent_p.T1021T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1021						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATATTCTTAAGGTTTTATCAT	0.438000													52	80					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427737	3427737	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:3427737G>A	ENST00000529482.1	+	0	854																											AGGGTCGGTGGATCTGGGTGT	0.617000													36	49					0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168160618	168160618	+	Silent	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:168160618A>C	ENST00000367833.2	+	4	541	c.396A>C	c.(394-396)acA>acC	p.T132T	TIPRL_ENST00000367830.3_Silent_p.T132T	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	132					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTGTACCTACAACAGATCATA	0.323000													48	61					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:183600827C>T	ENST00000511685.1	+	8	1458	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	TENM3_ENST00000406950.2_Silent_p.F445F					teneurin transmembrane protein 3																		AGTATGACTTCGTGGAGCTCC	0.532000													61	88					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340395	55340395	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55340395C>T	ENST00000314634.3	+	1	792	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCGTATTCCCCATGGATAAGA	0.398000													48	70					0	0	1	0	0
RPL39	6170	broad.mit.edu	37	X	118923891	118923891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118923891C>T	ENST00000361575.3	-	2	153	c.87G>A	c.(85-87)atG>atA	p.M29I	RPL39_ENST00000468844.1_5'UTR	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TTCCAGTTTTCATCCGAATCC	0.408000													42	82					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57876124	57876124	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:57876124A>T	ENST00000556492.1	+	5	1133	c.979A>T	c.(979-981)Aag>Tag	p.K327*	NAA30_ENST00000555166.1_Nonsense_Mutation_p.K69*|NAA30_ENST00000554703.1_Nonstop_Mutation_p.*50L	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	327	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AATAACAAATAAGTCCGCTTT	0.289000													27	28					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35478401	35478401	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:35478401C>T	ENST00000353139.5	-	50	6631	c.6150G>A	c.(6148-6150)caG>caA	p.Q2050Q	ACACA_ENST00000361253.5_Silent_p.Q139Q|ACACA_ENST00000394406.2_Silent_p.Q2013Q|ACACA_ENST00000360679.3_Silent_p.Q1955Q|ACACA_ENST00000335166.5_Silent_p.Q1935Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2013	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGGCCAGCCTGCTGGATTA	0.443000													94	97					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255687	16255687	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:16255687G>A	ENST00000375759.3	+	11	3156	c.2952G>A	c.(2950-2952)agG>agA	p.R984R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	984					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAGCCAGGAAAAGGCGCT	0.498000													28	36					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600837	29600837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:29600837C>T	ENST00000431530.3	+	1	2090	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	668	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGGGGCTTCCATATGCCCC	0.592000													22	32					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535621	166535621	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166535621G>A	ENST00000314499.7	+	7	1492	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	CSRNP3_ENST00000409420.1_Silent_p.E404E|CSRNP3_ENST00000342316.4_Silent_p.E372E	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	372	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAGACgaggaggaggaggaag	0.542000													54	61					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169894	33169894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33169894C>T	ENST00000374677.3	+	3	999	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SLC39A7_ENST00000374675.3_Missense_Mutation_p.S209F	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	209						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGGACACTCCCACAGTGGT	0.547000													46	120					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045039	87045039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:87045039G>A	ENST00000370563.3	+	13	2167	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	709						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAATGCAGGGGAAATTGAAGC	0.403000													30	39					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104211	53104211	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:53104211T>G	ENST00000408890.4	+	1	863	c.847T>G	c.(847-849)Ttc>Gtc	p.F283V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	283										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TAGGGTCTCCTTCGCCCTCGA	0.622000													39	63					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43321188	43321188	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43321188C>T	ENST00000331495.3	+	18	2580	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	FMNL1_ENST00000328118.3_Silent_p.F748F|FMNL1_ENST00000587489.1_Silent_p.F326F	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	748	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCTGGACTTCCTGGAGCTGC	0.632000													26	36					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282982	59282982	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:59282982G>T	ENST00000329328.3	+	1	597	c.597G>T	c.(595-597)atG>atT	p.M199I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	199					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						AGCTCCTGATGATTTCAAATA	0.468000													113	117					2.73796e-65	2.78106e-65	1	1	0
TNNT2	7139	broad.mit.edu	37	1	201331115	201331115	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:201331115C>T	ENST00000509001.1	-	13	901	c.615G>A	c.(613-615)cgG>cgA	p.R205R	TNNT2_ENST00000236918.7_Silent_p.R210R|TNNT2_ENST00000367317.4_Silent_p.R205R|TNNT2_ENST00000367318.5_Silent_p.R205R|TNNT2_ENST00000360372.4_Silent_p.R200R|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367320.2_Silent_p.R172R|TNNT2_ENST00000421663.2_Silent_p.R208R|TNNT2_ENST00000367315.2_Silent_p.R202R|TNNT2_ENST00000458432.2_Silent_p.R214R|TNNT2_ENST00000367322.1_Silent_p.R202R	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	215					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCTTCTTTTCCCGCTCAGTCT	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	181	194					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9001894	9001894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9001894G>A	ENST00000397910.4	-	53	40557	c.40354C>T	c.(40354-40356)Cct>Tct	p.P13452S	MUC16_ENST00000380951.5_Missense_Mutation_p.P93S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13454					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						GAGGTATCAGGAGCTGAGGAG	0.507000													22	25					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291946	163291946	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:163291946C>T	ENST00000332142.5	-	8	1815	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	KCNH7_ENST00000328032.4_Silent_p.A565A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	572					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CATTCCCAATCGCATACCAAA	0.443000													43	75					0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76429816	76429816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:76429816C>T	ENST00000238682.3	-	5	1066	c.769G>A	c.(769-771)Gat>Aat	p.D257N	TGFB3_ENST00000556285.1_Missense_Mutation_p.D257N	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	257					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CCATGGTCATCCTCATTGTCC	0.562000													75	122					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563864	228563864	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228563864G>A	ENST00000258403.3	-	3	638	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.F185F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	189					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443000													42	62					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415299	130415299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:130415299C>T	ENST00000370904.1	-	15	2422	c.1512G>A	c.(1510-1512)tgG>tgA	p.W504*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W513*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W513*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W504*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	513					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAACGTAATTCCAGGTGAGAT	0.493000													184	224					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765983	60765983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:60765983G>A	ENST00000446119.2	+	4	1039	c.20G>A	c.(19-21)gGg>gAg	p.G7E	MRC2_ENST00000303375.5_Silent_p.G1061G			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	0					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCACCTGGGGAGCCCTCTG	0.632000													59	71					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108750	140108750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:140108750C>T	ENST00000371521.4	+	6	690	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	NDOR1_ENST00000427047.2_Missense_Mutation_p.P169S|NDOR1_ENST00000344894.5_Missense_Mutation_p.P203S|NDOR1_ENST00000458322.2_Missense_Mutation_p.P203S	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	203					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCAGGAGCCCCCGTCAGAGTC	0.622000													50	11					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916222	149916222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:149916222G>A	ENST00000369135.3	-	12	2360	c.2066C>T	c.(2065-2067)tCc>tTc	p.S689F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	689					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTAGCCAGTGGAAAATGCCAT	0.642000													79	99					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635288	179635288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179635288C>T	ENST00000589042.1	-	35	8455	c.8231G>A	c.(8230-8232)gGa>gAa	p.G2744E	TTN_ENST00000359218.5_Missense_Mutation_p.G2698E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2698E|TTN_ENST00000342992.6_Missense_Mutation_p.G2744E|TTN_ENST00000460472.2_Missense_Mutation_p.G2698E|TTN_ENST00000591111.1_Missense_Mutation_p.G2744E|TTN_ENST00000360870.5_Missense_Mutation_p.G2744E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2482							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)			CAGCACAACTCCATTTTTGAT	0.413000													89	119					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982971	106982971	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:106982971C>T	ENST00000369701.3	+	20	3059	c.2832C>T	c.(2830-2832)acC>acT	p.T944T	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	944						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AACTGGGGACCCTTACCTATT	0.458000													142	42					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944425	153944425	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153944425G>A	ENST00000369575.3	-	2	283	c.252C>T	c.(250-252)ttC>ttT	p.F84F	GAB3_ENST00000424127.2_Silent_p.F84F|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	84	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGAACACGAAATTATTCT	0.512000													152	233					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50854526	50854526	+	Silent	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:50854526G>C	ENST00000359139.3	+	6	952	c.558G>C	c.(556-558)ctG>ctC	p.L186L	PPP6R2_ENST00000216061.5_Silent_p.L186L|PPP6R2_ENST00000395741.3_Silent_p.L186L|PPP6R2_ENST00000395744.3_Silent_p.L186L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	186						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGTGGCTGAATGAAGAGA	0.507000													3	88					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23654022	23654022	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:23654022C>T	ENST00000305877.8	+	19	4072	c.3322_splice	c.e19+1	p.V1107_splice	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Splice_Site_p.V1063_splice	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1107	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCTTCGACGTCAGTGAGTGTT	0.627000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								131	14					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11886657	11886657	+	Silent	SNP	T	T	G	rs140979549	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11886657T>G	ENST00000322748.3	-	8	1423	c.819A>C	c.(817-819)atA>atC	p.I273I	ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000454073.3_Silent_p.I272I|ZNF18_ENST00000580306.1_Silent_p.I273I	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	273	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CATGAAGGTATATTCCTGCCA	0.433000													79	123					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10729252	10729252	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:10729252G>A	ENST00000345985.3	-	18	1721	c.1611C>T	c.(1609-1611)gtC>gtT	p.V537V	NOL10_ENST00000542668.1_Silent_p.V537V|NOL10_ENST00000381685.5_Silent_p.V587V|NOL10_ENST00000538384.1_Silent_p.V561V	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	587						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GGGGCTTTAGGACTGTCTGCT	0.483000													47	77					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54984787	54984787	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:54984787G>A	ENST00000375006.3	-	6	538	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PFKFB1_ENST00000545676.1_Silent_p.F91F|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	156	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGGACTCAATGAAAAACACCT	0.388000													38	53					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42508004	42508004	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:42508004A>G	ENST00000318522.5	+	7	944	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E	EML4_ENST00000402711.2_Missense_Mutation_p.K170E|EML4_ENST00000401738.3_Missense_Mutation_p.K239E	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	228					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAATATATTAAAATGTTTAT	0.358000			T	ALK	NSCLC								23	26					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652072	36652072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36652072G>A	ENST00000405375.1	+	2	429	c.194G>A	c.(193-195)tGg>tAg	p.W65*	CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.W65*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.W65*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.W99*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	65					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GACTTCGCCTGGGAGCGTGTG	0.672000													36	82					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462406	5462406	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:5462406T>A	ENST00000345221.3	-	4	2164	c.1610A>T	c.(1609-1611)aAg>aTg	p.K537M	NLRP1_ENST00000354411.3_Missense_Mutation_p.K537M|NLRP1_ENST00000269280.4_Missense_Mutation_p.K537M|NLRP1_ENST00000577119.1_Missense_Mutation_p.K537M|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.K537M|NLRP1_ENST00000572272.1_Missense_Mutation_p.K537M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	537	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGTTTTTCCTTCCGCTTCAT	0.542000													107	130					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983580	65983580	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65983580T>A	ENST00000443035.3	-	23	3564	c.3349A>T	c.(3349-3351)Agc>Tgc	p.S1117C	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1074C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCGTGCTTTTTGAGATA	0.368000													11	11					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283949	43283949	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:43283949C>T	ENST00000511537.1	-	0	986					NR_033868.1																						CTCTGTGGTTCATAAGCCATC	0.443000													18	20					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107048104	107048104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:107048104C>T	ENST00000392842.1	+	4	704	c.290C>T	c.(289-291)cCt>cTt	p.P97L	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P106L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	97					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GATACCCAACCTGTCAATGCT	0.483000													50	59					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270008	48270008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48270008C>T	ENST00000225964.5	-	28	2040	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	641	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CACCTGGAATCCGGGGGAGCC	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						107	149					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644645	20644645	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:20644645G>A	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCTCTGAGTGATGGCACTAC	0.632000													3	15					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54566472	54566472	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:54566472A>G	ENST00000251636.5	-	19	3075	c.2927T>C	c.(2926-2928)tTg>tCg	p.L976S	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	976	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTGGCGCTGCAAAGCACTGGC	0.433000													58	75					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344831	20344831	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20344831C>T	ENST00000298642.2	+	1	441	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTTCTGTCATTAGTCCCC	0.453000													102	212					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19501449	19501449	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:19501449A>G	ENST00000375267.2	-	21	2855	c.2853_splice	c.e21+1	p.V951_splice	UBR4_ENST00000375254.3_Splice_Site_p.V951_splice|UBR4_ENST00000375217.2_Splice_Site_p.V951_splice|UBR4_ENST00000375226.2_Splice_Site_p.V951_splice			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTAGTACCACAGAATCAAG	0.433000													63	94					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126736492	126736492	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:126736492C>T	ENST00000251772.4	+	17	3501	c.3432C>T	c.(3430-3432)tcC>tcT	p.S1144S	PLXNA1_ENST00000393409.2_Silent_p.S1167S			Q9UIW2	PLXA1_HUMAN	plexin A1	1167	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCCCAGCTCCCCACTCATCC	0.642000													200	246					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959038	45959038	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:45959038C>T	ENST00000402984.3	+	16	2161	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000262722.7_Silent_p.V648V			P23142	FBLN1_HUMAN	fibulin 1	666					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAAGCCTGTCCCCGAGCCCA	0.612000													106	12					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804420	220804420	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:220804420A>C	ENST00000402574.1	+	10	1550	c.548A>C	c.(547-549)gAa>gCa	p.E183A	MARK1_ENST00000366917.4_Missense_Mutation_p.E318A|MARK1_ENST00000366918.4_Missense_Mutation_p.E296A	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	318	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CATGAAGAGGAAGAACTAAAG	0.363000													56	110					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786501	5786501	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:5786501A>G	ENST00000309061.7	-	10	1635	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	DUS3L_ENST00000320699.8_Silent_p.G271G	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	513					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCCGGTGACACCAGTCTGCA	0.587000													30	70					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945503	55945503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55945503G>A	ENST00000394256.2	+	1	521	c.493G>A	c.(493-495)Gat>Aat	p.D165N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GACCCAGGTAGATTTCTGTGT	0.473000													106	149					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46784672	46784672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:46784672G>A	ENST00000529230.1	-	30	3791	c.3745C>T	c.(3745-3747)Ctt>Ttt	p.L1249F	CKAP5_ENST00000312055.5_Missense_Mutation_p.L1249F|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1249F|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1249F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1249					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTCAGGGTAAGCCACTTTAAG	0.348000													105	144					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459117	66459117	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:66459117C>T	ENST00000404260.3	+	29	4427	c.4119C>T	c.(4117-4119)tcC>tcT	p.S1373S	MAST4_ENST00000405643.1_Silent_p.S1191S|MAST4_ENST00000403625.2_Silent_p.S1370S|MAST4_ENST00000261569.7_Silent_p.S1176S|MAST4_ENST00000403666.1_Silent_p.S1181S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1373						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)		GGCGAAAGTCCGCCGGCAACA	0.687000													92	105					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342456	111342456	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:111342456G>A	ENST00000308208.5	+	11	1649	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	CCDC63_ENST00000552694.1_Silent_p.V390V|CCDC63_ENST00000545036.1_Silent_p.V429V	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	469										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						TCCTGGAAGTGGAAGGGGCAG	0.577000													56	102					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319242	21319242	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:21319242C>T	ENST00000583088.1	+	3	1483	c.588C>T	c.(586-588)ttC>ttT	p.F196F	KCNJ12_ENST00000331718.5_Silent_p.F196F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGCTGCTGTTCAGCCACAACG	0.617000										Prostate(3;0.18)			16	76					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847149	46847149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:46847149C>T	ENST00000393382.3	-	14	2492	c.2351G>A	c.(2350-2352)gGg>gAg	p.G784E	TTLL6_ENST00000433608.2_Missense_Mutation_p.G477E	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	736						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGAGCTTCCCACTCAGTTG	0.498000													37	70					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921046	108921046	+	Missense_Mutation	SNP	G	G	A	rs139416622	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:108921046G>A	ENST00000326853.5	+	6	878	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	SULT1C2_ENST00000251481.6_Missense_Mutation_p.R131Q|SULT1C2_ENST00000437390.2_Missense_Mutation_p.R145Q|SULT1C2_ENST00000409880.1_Missense_Mutation_p.R94Q	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TATGTAGCTCGAAATGCCAAA	0.438000													91	148					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52521917	52521917	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:52521917C>T	ENST00000345716.4	+	16	2543	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	NISCH_ENST00000479054.1_Silent_p.F803F	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	803	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGCACGAGTTCCACGCGGACC	0.607000													35	6					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185109117	185109117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:185109117G>A	ENST00000367504.3	-	8	1368	c.629C>T	c.(628-630)tCt>tTt	p.S210F	TRMT1L_ENST00000367506.5_Missense_Mutation_p.S366F			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	366						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAATCAAAAGATCTCAAATG	0.333000													33	76					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34105144	34105144	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:34105144G>A	ENST00000389232.4	+	73	10408	c.10338G>A	c.(10336-10338)aaG>aaA	p.K3446K	RYR3_ENST00000415757.3_Silent_p.K3441K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3446					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGGAAAAGACAGTGGAGC	0.483000													30	56					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77298181	77298181	+	Silent	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77298181A>C	ENST00000341514.6	+	20	4055	c.3900A>C	c.(3898-3900)ggA>ggC	p.G1300G	ATP7A_ENST00000350425.4_Silent_p.G303G|ATP7A_ENST00000343533.5_Silent_p.G1222G	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1300			G -> E (in MNKD).		ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAATGGTGGGAGATGGAATCA	0.473000													157	251					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235416	3235416	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3235416G>A	ENST00000217939.6	-	6	6460	c.6306C>T	c.(6304-6306)ttC>ttT	p.F2102F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2102	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCGTTGGGGAAAACAAACA	0.682000													14	13					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431077	66431077	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:66431077C>T	ENST00000383703.3	-	19	3513	c.2910G>A	c.(2908-2910)ggG>ggA	p.G970G	LRIG1_ENST00000273261.3_Silent_p.G993G|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	993						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTAGAGCGACCCTTGGCACT	0.557000													101	156					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28578206	28578206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28578206G>A	ENST00000380982.4	-	24	3055	c.2974C>T	c.(2974-2976)Cag>Tag	p.Q992*	FLT3_ENST00000241453.7_Nonsense_Mutation_p.Q989*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.Q948*|FLT3_ENST00000469894.1_5'UTR			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	989					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTCGACCTGAGCCTGCGGA	0.458000			"""Mis, O"""		"""AML, ALL"""								46	86					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351711	57351711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:57351711G>A	ENST00000361249.3	+	7	1063	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	323	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGCTTCCAGATCAGTACAA	0.413000													51	87					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788384	42788384	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:42788384T>G	ENST00000372980.3	-	2	1915	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	348					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTTGGTGTCCTTGACCAGCAC	0.672000													40	53					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270030	114270030	+	Silent	SNP	G	G	A	rs138037147		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:114270030G>A	ENST00000393500.3	+	11	1162	c.342G>A	c.(340-342)caG>caA	p.Q114Q	FOXP2_ENST00000393498.2_Silent_p.Q169Q|FOXP2_ENST00000378237.3_Silent_p.Q189Q|FOXP2_ENST00000360232.4_Silent_p.Q189Q|FOXP2_ENST00000393491.3_Silent_p.Q97Q|FOXP2_ENST00000393494.2_Silent_p.Q189Q|FOXP2_ENST00000393489.3_Silent_p.Q97Q|FOXP2_ENST00000403559.4_Silent_p.Q206Q|FOXP2_ENST00000350908.4_Silent_p.Q189Q|FOXP2_ENST00000390668.3_Silent_p.Q213Q|FOXP2_ENST00000408937.3_Silent_p.Q214Q			O15409	FOXP2_HUMAN	forkhead box P2	189	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcagcaacagcaTC	0.493000													3	62					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714950	150714950	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:150714950G>A	ENST00000335244.4	-	6	813	c.684C>T	c.(682-684)tcC>tcT	p.S228S	SLC36A2_ENST00000521967.1_Silent_p.S228S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	228					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAGCATGGAGAAGATGG	0.567000													44	59					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219018	134219018	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:134219018C>T	ENST00000305233.5	+	2	1073	c.1014C>T	c.(1012-1014)caC>caT	p.H338H	PWWP2B_ENST00000368609.4_Silent_p.H338H	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	338										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGAAGCCCCACCGTCTGGGGG	0.726000													29	13					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													6	183					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796763	43796763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:43796763C>T	ENST00000291532.3	-	11	2036	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.A445T|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.A360T|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.A358T	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	361	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAGGGACGGCCGCGTGGTTC	0.597000													140	231					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629994	141629994	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141629994G>A	ENST00000546910.1	-	7	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CLEC5A_ENST00000439991.1_Silent_p.F55F|CLEC5A_ENST00000551012.2_Silent_p.F136F|MGAM_ENST00000497554.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	159	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCGCACAGTTGAAATTCTGAT	0.393000													58	75					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330614	42330614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:42330614G>A	ENST00000262418.6	-	17	2338	c.2183C>T	c.(2182-2184)aCc>aTc	p.T728I		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	728	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAACGCACGGTGGTGGCACT	0.642000													52	64					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302574	209302574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:209302574C>T	ENST00000272847.2	+	4	592	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	127						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGACTGCCTTCGCTTTCTGCA	0.378000													42	84					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542372	63542372	+	Silent	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:63542372T>A	ENST00000478300.1	+	4	774	c.363T>A	c.(361-363)atT>atA	p.I121I	SYNPR_ENST00000465156.1_Silent_p.I101I|SYNPR_ENST00000479198.1_Silent_p.I101I|SYNPR_ENST00000460711.1_Silent_p.I112I|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000295894.5_Silent_p.I101I	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	101	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGTTTACATTTTCTTCCAGA	0.428000													15	6					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715352	92715352	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:92715352G>A	ENST00000257068.2	+	2	969	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	321					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.R321S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATACAAGAGGATCCTCTTGG	0.532000													137	198					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834906	61834906	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:61834906G>A	ENST00000280772.1	-	37	5924	c.5733C>T	c.(5731-5733)gaC>gaT	p.D1911D	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1911					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCGCATTAGGTCCTCTTTCA	0.443000													9	9					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189425	124189425	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124189425A>G	ENST00000357438.2	-	1	759	c.669T>C	c.(667-669)tcT>tcC	p.S223S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	223					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)		CAAGGATACTAGAGAAAATGA	0.438000													59	85					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979374	92979374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:92979374G>A	ENST00000370331.1	-	18	2281	c.2272C>T	c.(2272-2274)Cct>Tct	p.P758S	EVI5_ENST00000540033.1_Missense_Mutation_p.P758S|EVI5_ENST00000543509.1_Missense_Mutation_p.P769S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	758	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCGTGCAAAGGAAAACCAACA	0.433000													50	67					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175311	133175311	+	Silent	SNP	C	C	T	rs144877200		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:133175311C>T	ENST00000329321.3	+	1	1165	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	232						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGTCTACCTCGTGGTCCTGC	0.617000													56	60					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976848	41976848	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:41976848G>A	ENST00000372584.1	-	8	7506	c.6492C>T	c.(6490-6492)caC>caT	p.H2164H	HIVEP3_ENST00000429157.2_Silent_p.H2164H|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Silent_p.H2165H|HIVEP3_ENST00000247584.5_Silent_p.H2165H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2165					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGATGTGGCCGTGGAAGTCAT	0.637000													4	124					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150072517	150072517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:150072517G>A	ENST00000199814.4	-	10	1193	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	RBM22_ENST00000540000.1_Missense_Mutation_p.P309S|RBM22_ENST00000447771.2_Missense_Mutation_p.P309S	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	358	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	p.P358T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACAGCTGGAGGACCACTT	0.542000													55	114					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61565017	61565017	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:61565017C>T	ENST00000457692.1	+	6	807	c.474C>T	c.(472-474)ttC>ttT	p.F158F	SERPINB2_ENST00000299502.4_Silent_p.F158F|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	158					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGTAGACTTCCTAGAATGTG	0.343000													32	72					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511558	58511558	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:58511558C>T	ENST00000588627.1	-	0	1799																											TCGTTGGGGTCGAACTTTGGC	0.577000													9	16					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912008	43912008	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43912008A>T	ENST00000314537.5	+	13	1351	c.1126A>T	c.(1126-1128)Aag>Tag	p.K376*	CRHR1_ENST00000339069.5_Silent_p.G229G|CRHR1_ENST00000293493.7_Nonsense_Mutation_p.K201*|CRHR1_ENST00000577353.1_Nonsense_Mutation_p.K362*|CRHR1_ENST00000398285.3_Nonsense_Mutation_p.K405*|CRHR1_ENST00000352855.5_Nonsense_Mutation_p.K336*	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	405					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCCATCCGGAAGAGGTGGCA	0.662000													35	53					0	0	1	0	0
TMSB15B	286527	broad.mit.edu	37	X	103219191	103219191	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:103219191G>A	ENST00000567181.1	+	2	168	c.96G>A	c.(94-96)aaG>aaA	p.K32K	TMSB15B_ENST00000569577.1_Silent_p.K32K|TMSB15B_ENST00000540220.1_Silent_p.K32K|TMSB15B_ENST00000563257.1_Silent_p.K32K|TMSB15B_ENST00000436583.1_Silent_p.K32K|TMSB15B_ENST00000419165.1_Silent_p.K32K			P0CG34	TB15A_HUMAN	thymosin beta 15B	32					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TTCCCTCAAAGGAAAGTAAGT	0.338000													22	172					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190746	6190746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:6190746G>A	ENST00000530810.1	-	1	892	c.811C>T	c.(811-813)Cct>Tct	p.P271S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTTGAGGAATATTACGC	0.463000													30	48					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073069	15073069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:15073069G>A	ENST00000598504.1	-	8	2039	c.680C>T	c.(679-681)cCa>cTa	p.P227L	SLC1A6_ENST00000221742.3_Missense_Mutation_p.P227L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P227L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P163L|SLC1A6_ENST00000544886.2_Missense_Mutation_p.P227L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	227					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CACTGAGAATGGAGGAGGCAT	0.562000													81	125					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215327	51215327	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51215327C>T	ENST00000293441.1	-	6	855	c.837G>A	c.(835-837)cgG>cgA	p.R279R	SHANK1_ENST00000359082.3_Silent_p.R279R|SHANK1_ENST00000391814.1_Silent_p.R279R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	279					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)		GGGTCAGCCCCCGACGGTCCT	0.592000													41	61					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010594	24010594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:24010594G>A	ENST00000496398.1	+	4	1054	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.E211K|RP11-255H23.4_ENST00000599944.1_lincRNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						TGAAGAGATTGAAAAAGAAGA	0.532000													11	20					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714427	70714427	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:70714427G>A	ENST00000530196.1	-	0	91					NR_003951.1																						AGAGGACAAGGTGTGAGGCAC	0.532000													30	171					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113131019	113131019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:113131019C>T	ENST00000316851.7	+	15	2075	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	NCAM1_ENST00000533760.1_Missense_Mutation_p.T574I|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	702	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGTTCAGGACCTCGGCCCAG	0.532000													26	61					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536042	38536042	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:38536042G>A	ENST00000332509.3	-	5	927	c.744C>T	c.(742-744)atC>atT	p.I248I	PLA2G6_ENST00000335539.3_Silent_p.I248I|PLA2G6_ENST00000402064.1_Silent_p.I248I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	248					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGGGCCCATGATGTTGCACC	0.627000													31	11					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122625501	122625501	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:122625501T>C	ENST00000319080.6	+	16	2641	c.2508_splice	c.e16-1	p.F837_splice	MLXIP_ENST00000538698.1_Splice_Site_p.F444_splice			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	837	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACACTGCAGTTCAGCATCAT	0.602000													82	107					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126207067	126207067	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:126207067G>A	ENST00000290868.2	-	18	1817	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	UROC1_ENST00000383579.3_Silent_p.A648A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	588					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTTGTGAAGGGCGACCCAGG	0.612000													117	202					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367305	105367305	+	Silent	SNP	C	C	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:105367305C>G	ENST00000297581.2	+	3	1279	c.1230C>G	c.(1228-1230)ccC>ccG	p.P410P	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	410					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTTCTACCCCAGCGTGGAGA	0.453000													91	113					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401232	115401232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:115401232G>A	ENST00000369522.3	+	6	596	c.356G>A	c.(355-357)tGg>tAg	p.W119*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W119*	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	119					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAAAAATGGAAAGTAAGT	0.328000													41	70					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716408	153716408	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153716408G>C	ENST00000263512.4	-	2	1370	c.872C>G	c.(871-873)tCt>tGt	p.S291C	SLC10A3_ENST00000393587.4_Missense_Mutation_p.S291C|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S262C|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S346C	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	291					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCACCGTAGAGAGGAAAGT	0.612000													6	119					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10282332	10282332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:10282332C>T	ENST00000296658.3	-	5	955	c.535G>A	c.(535-537)Gat>Aat	p.D179N	CMBL_ENST00000510532.1_Intron	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	179						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						ATCACAACATCATTTTCAGCA	0.403000													47	56					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:56058264G>A	ENST00000313022.2	-	1	302	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000													157	271					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172574	36172574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36172574C>T	ENST00000357641.6	+	3	1841	c.1588C>T	c.(1588-1590)Caa>Taa	p.Q530*	BRPF3_ENST00000339717.7_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.Q530*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	530					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.Q530*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCTGCAGTCCCAAAGAAACGC	0.547000													94	259					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113346507	113346507	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:113346507G>A	ENST00000264852.4	+	25	3162	c.2436G>A	c.(2434-2436)ttG>ttA	p.L812L	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.L817L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	812						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTTAACTTTGGATGATGACC	0.463000													59	102					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91763741	91763741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:91763741C>T	ENST00000389857.6	-	22	3960	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1292					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTTGAGCTCCAGCTGCGCG	0.607000													22	26					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65448155	65448155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65448155G>A	ENST00000300107.3	-	10	1374	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	396					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTCTTTTCTGGAACATTGACT	0.338000													56	83					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872077	51872077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:51872077C>T	ENST00000371497.5	+	2	2967	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P691S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P691S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	694					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATGCATCAACCCACTCAGCGC	0.627000													38	34					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66638663	66638663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:66638663G>A	ENST00000393960.1	-	7	774	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PC_ENST00000393958.2_Missense_Mutation_p.P165S|PC_ENST00000524491.1_Missense_Mutation_p.P125S|PC_ENST00000393955.2_Missense_Mutation_p.P165S|PC_ENST00000355677.3_Missense_Mutation_p.P165S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	165	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGACAACGGGAACACCTGTT	0.632000													66	81					0	0	1	0	0
PRSS41	360226	broad.mit.edu	37	16	2854974	2854974	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2854974C>T	ENST00000399677.1	+	0	798							Q7RTY9	PRS41_HUMAN	protease, serine, 41						proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										AGGTTGGAATCGTGAGCTGGG	0.582000													9	9					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926235	88926235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:88926235G>A	ENST00000347404.5	-	3	747	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.P59S|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	59					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TCCATCCCGGGGACATATTTG	0.328000									Testicular Cancer, Familial Clustering of				91	107					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													5	140					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112888	108112888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108112888G>A	ENST00000273353.3	-	37	5365	c.5309C>T	c.(5308-5310)gCa>gTa	p.A1770V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1770						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						CTCAATGGCTGCCTTCTTGGC	0.547000													58	99					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927626	189927626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:189927626C>T	ENST00000374866.3	-	29	2216	c.1942G>A	c.(1942-1944)Ggt>Agt	p.G648S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	648					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAACTTCACCATCTTTTCCA	0.383000													67	83					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262668	39262668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:39262668G>A	ENST00000407418.3	-	5	908	c.785C>T	c.(784-786)gCc>gTc	p.A262V	CBX6_ENST00000216083.6_Missense_Mutation_p.A244V			O95503	CBX6_HUMAN	chromobox homolog 6	262					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCGGGGGCGGCCAGAAGTAG	0.741000													31	3					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151754010	151754010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:151754010G>A	ENST00000368822.1	-	3	811	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	TDRKH_ENST00000368825.3_Missense_Mutation_p.P60S|TDRKH_ENST00000368827.6_Missense_Mutation_p.P60S|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.P60S|TDRKH_ENST00000368824.3_Missense_Mutation_p.P60S|TDRKH_ENST00000458431.2_Missense_Mutation_p.P60S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	60	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCCTGGGGAACCCGCATC	0.463000													89	121					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:46826630G>A	ENST00000283296.7	-	17	3298	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S|GPR116_ENST00000545669.1_Missense_Mutation_p.P433S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488000													45	144					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299362	25299362	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:25299362G>A	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA																							TGCTTGGATCGATGATGAGTC	0.493000													81	119					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91404737	91404737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:91404737C>T	ENST00000307534.4	-	1	478	c.323G>A	c.(322-324)gGa>gAa	p.G108E		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	108					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCCGGATCCTCCCTGCGGCTT	0.736000													18	2					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653046	121653046	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121653046G>T	ENST00000393386.2	+	12	4357	c.3946G>T	c.(3946-3948)Gtt>Ttt	p.V1316F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1316					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGCTACACCTGTTTTATCAAT	0.368000													3	58					1	1	1	1	0
KEL	3792	broad.mit.edu	37	7	142651298	142651298	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:142651298G>A	ENST00000355265.2	-	8	1371	c.897C>T	c.(895-897)ttC>ttT	p.F299F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	299					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGACCATCTGGAAGAGCTTGC	0.552000													22	24					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920574	51920574	+	Silent	SNP	G	G	A	rs142646348		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51920574G>A	ENST00000353836.5	-	2	404	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SIGLEC10_ENST00000432469.2_Silent_p.F61F|SIGLEC10_ENST00000442846.3_Silent_p.F61F|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.F61F|SIGLEC10_ENST00000525998.1_Silent_p.F61F|SIGLEC10_ENST00000339313.5_Silent_p.F61F|SIGLEC10_ENST00000436984.2_Silent_p.F61F|SIGLEC10_ENST00000439889.2_Silent_p.F61F|SIGLEC10_ENST00000356298.5_Silent_p.F61F	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	61	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCACTGCTTTGAACCAGTAGC	0.597000													57	70					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781075	96781075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:96781075G>A	ENST00000409345.3	-	1	909	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	272					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCCAACTGGGTGGCAAGGCC	0.617000													11	20					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21169800	21169800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21169800C>T	ENST00000377122.4	-	5	799	c.403G>A	c.(403-405)Gga>Aga	p.G135R	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.G135R|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	135				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858).	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						TCTGAGAATCCTTTGGCAGCA	0.413000													52	69					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134230	32134230	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:32134230T>C	ENST00000312561.4	+	4	755	c.341T>C	c.(340-342)gTt>gCt	p.V114A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TCTTCAGGAGTTACCCAAAAC	0.418000													19	53					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744164	45744164	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:45744164C>T	ENST00000297323.7	+	17	2788	c.2766C>T	c.(2764-2766)atC>atT	p.I922I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	922					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCAAGACCATCGGGAGCACCT	0.502000													45	71					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251946	47251946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:47251946G>A	ENST00000296861.2	-	3	1364	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	324					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGCGTGCTGGACTTCTCGCC	0.557000													101	270					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604618	71604618	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:71604618G>A	ENST00000355962.4	-	8	1009	c.876C>T	c.(874-876)atC>atT	p.I292I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	292					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CATGAATGAGGATCCAGCCCA	0.493000													57	65					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739279	55739279	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55739279A>G	ENST00000370830.3	-	1	1083	c.385T>C	c.(385-387)Tta>Cta	p.L129L	BMP5_ENST00000446683.2_Silent_p.L129L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	129					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)			GTCCGAGATAACTGTATGCGA	0.522000													58	118					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433107	55433107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55433107G>A	ENST00000314259.3	+	1	494	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGCACGCAATGATACAACTTC	0.468000													96	112					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418363	122418363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:122418363C>T	ENST00000474629.2	+	6	1228	c.962C>T	c.(961-963)cCa>cTa	p.P321L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCAGCACCATTTGAAGAG	0.433000													37	59					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181690986	181690986	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:181690986C>T	ENST00000526775.1	+	16	2214	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	CACNA1E_ENST00000358338.5_Silent_p.F634F|CACNA1E_ENST00000357570.5_Silent_p.F634F|CACNA1E_ENST00000367573.2_Silent_p.F683F|CACNA1E_ENST00000367567.4_Silent_p.F290F|CACNA1E_ENST00000367570.1_Silent_p.F683F|CACNA1E_ENST00000360108.3_Silent_p.F683F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	683					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						CCATCTACTTCATTGTGCTCA	0.522000													104	185					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101374903	101374903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:101374903G>A	ENST00000344327.3	-	2	1221	c.797C>T	c.(796-798)tCg>tTg	p.S266L	TRPC6_ENST00000360497.4_Missense_Mutation_p.S266L|TRPC6_ENST00000532133.1_Missense_Mutation_p.S266L|TRPC6_ENST00000348423.4_Missense_Mutation_p.S266L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	266					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGGCTAAACGAGTCATGCTT	0.468000													116	150					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961275	30961275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:30961275C>T	ENST00000399914.1	-	10	1929	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	GRIK1_ENST00000535441.1_Missense_Mutation_p.E487K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E485K|GRIK1_ENST00000399907.1_Missense_Mutation_p.E485K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E470K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E485K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E485K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E487K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E470K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	485					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTGACAATTCTTTCAACAGG	0.393000													71	110					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811990	107811990	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107811990G>A	ENST00000328300.6	+	6	567	c.321_splice	c.e6-1	p.G108_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G108_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	108	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTCAAAGGGAATGCCAGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis				91	156					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6693046	6693046	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6693046G>A	ENST00000245907.6	-	26	3371	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1093					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTCGATGGCGATGAGGTTGA	0.597000													109	141					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665212	180665212	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:180665212T>C	ENST00000512805.1	-	6	1072	c.664A>G	c.(664-666)Aac>Gac	p.N222D	GNB2L1_ENST00000376817.4_Missense_Mutation_p.N178D|GNB2L1_ENST00000514455.1_Missense_Mutation_p.N6D|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000511900.1_Missense_Mutation_p.N174D|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	222					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TTGCCTTCGTTGAGATCCCAT	0.527000													112	121					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	110					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039157	143039157	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:143039157T>G	ENST00000343257.2	+	15	1805	c.1718T>G	c.(1717-1719)cTg>cGg	p.L573R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	573					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCCAGAGCCTGCAGCCCTCT	0.537000													46	78					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045802	53045802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:53045802C>T	ENST00000276480.7	-	20	3043	c.2360G>A	c.(2359-2361)aGa>aAa	p.R787K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	787						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)				ATCCTACCTTCTGTGGGAAGC	0.498000													49	122					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39243878	39243878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:39243878C>T	ENST00000518318.2	+	3	277	c.235C>T	c.(235-237)Caa>Taa	p.Q79*	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q79*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q71*			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	79					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACTCCTGACCAACACCAGGC	0.498000													29	55					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087301	109087301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:109087301G>T	ENST00000309863.6	+	6	2230	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	506					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCAAGAGTTCGAATCAATGAA	0.378000													70	100					4.47563e-24	4.52514e-24	1	1	0
TNN	63923	broad.mit.edu	37	1	175049375	175049375	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:175049375G>A	ENST00000239462.4	+	4	974	c.861G>A	c.(859-861)caG>caA	p.Q287Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	287	Fibronectin type-III 1.				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)		CCTCCAGCCAGGTGGATCACT	0.592000													31	60					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396133	1396133	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:1396133C>T	ENST00000378785.2	+	10	1811	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	272							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGCAGATTCATGCTGATCC	0.652000													21	22					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416513	69416513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69416513C>T	ENST00000317746.2	-	5	1237	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	399					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCATGTTGATCCGCAAACAAG	0.458000													48	147					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232732	172232732	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172232732A>C	ENST00000241261.2	-	2	311	c.189T>G	c.(187-189)agT>agG	p.S63R	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S63R	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	63					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTCCCAATAACTGTCATCTT	0.443000													91	121					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30072639	30072639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:30072639G>A	ENST00000431530.3	+	12	3851	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Missense_Mutation_p.E144K|MTUS2_ENST00000380808.2_Missense_Mutation_p.E234K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1255						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAAATACACGAGCAAGAAAA	0.443000													33	53					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912768	77912768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77912768C>T	ENST00000321110.1	-	2	1445	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	384							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						GTGATGAGATCAGATAGGTTG	0.498000													82	107					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325966	158325966	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158325966G>A	ENST00000434258.1	+	4	980	c.969G>A	c.(967-969)agG>agA	p.R323R	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGGGCTGAGGAAATGGGTAG	0.423000													5	14					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166795172	166795172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:166795172G>A	ENST00000061240.2	+	1	763	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TLL1_ENST00000513213.1_Missense_Mutation_p.G39E|TLL1_ENST00000507499.1_Missense_Mutation_p.G39E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	39					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTTTTGATGGGAACGAAGAG	0.567000													150	212					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513052	89513052	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:89513052C>T	ENST00000498435.1	-	0	237																											CAGCATAGATCAGGAGCTTAG	0.522000													79	217					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964873	70964873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:70964873G>A	ENST00000357250.6	-	23	1749	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	COL9A1_ENST00000320755.7_Missense_Mutation_p.P288S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P288S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	531	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTGGGCCCAGGGAGACCAGGA	0.433000													131	204					0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004978	36004978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:36004978C>T	ENST00000307169.3	+	1	1731	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCGGGGGCTCCTCCCGAAACG	0.627000													16	21					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39795450	39795450	+	Silent	SNP	G	G	A	rs146525668		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:39795450G>A	ENST00000442448.1	-	5	562	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ERG_ENST00000398897.1_5'UTR|ERG_ENST00000398910.1_Silent_p.G97G|ERG_ENST00000398905.1_Silent_p.G90G|ERG_ENST00000453032.2_5'UTR|ERG_ENST00000429727.2_Silent_p.G90G|ERG_ENST00000398919.2_Silent_p.G97G|ERG_ENST00000398907.1_Silent_p.G90G|ERG_ENST00000288319.7_Silent_p.G90G|ERG_ENST00000417133.2_Silent_p.G97G|ERG_ENST00000398911.1_Silent_p.G97G	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	97					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CCATCTTCCCGCCTTTGGCCA	0.517000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								55	71					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197708	67197708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:67197708G>A	ENST00000269081.4	-	11	2017	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	ABCA10_ENST00000432313.2_Missense_Mutation_p.P370S|ABCA10_ENST00000416101.2_Missense_Mutation_p.P370S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	370					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAATGCTCAGGATTTATTTCA	0.353000													54	50					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051556	9051556	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:9051556G>C	ENST00000457346.2	-	19	2452	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S	SCUBE2_ENST00000520467.1_Missense_Mutation_p.T736S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T764S|SCUBE2_ENST00000450649.2_Missense_Mutation_p.T638S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	764						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACATCGGTGAGTGGTGGTGTT	0.403000													32	50					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81196150	81196150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:81196150G>A	ENST00000312465.7	+	2	669	c.443G>A	c.(442-444)gGa>gAa	p.G148E	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	148					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TCAAAAAAAGGAAAACTCCAT	0.328000													15	33					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45779808	45779808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:45779808G>A	ENST00000261867.4	-	6	1231	c.917C>T	c.(916-918)cCc>cTc	p.P306L	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	306					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGTACAGATGGGGTCAGCAAT	0.318000													68	63					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407696	148407696	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:148407696G>A	ENST00000538184.1	-	7	1128	c.240C>T	c.(238-240)ctC>ctT	p.L80L	SH3TC2_ENST00000394358.2_Silent_p.L418L|SH3TC2_ENST00000512049.1_Silent_p.L526L|SH3TC2_ENST00000515425.1_Silent_p.L533L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	533							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCCCAGGAGGAAGCAGA	0.562000													90	156					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986896	141986896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:141986896G>A	ENST00000389484.3	-	6	1677	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	236					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)		TCCAGAGTATGAATTTCATTT	0.303000										TSP Lung(27;0.18)			24	34					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46449977	46449977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:46449977G>A	ENST00000399036.3	+	2	759	c.407G>A	c.(406-408)gGa>gAa	p.G136E	ACKR5_ENST00000400880.3_Missense_Mutation_p.G136E|ACKR5_ENST00000400882.2_Missense_Mutation_p.G136E|ACKR5_ENST00000357392.4_Missense_Mutation_p.G148E	NM_003965.4	NP_003956.2																					TTGCACAAGGGAAACTTTTTC	0.468000													81	23					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56325024	56325024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:56325024C>T	ENST00000370754.5	-	101	22894	c.22895G>A	c.(22894-22896)cGa>cAa	p.R7632Q	DST_ENST00000421834.2_Missense_Mutation_p.R5339Q|DST_ENST00000361203.3_Missense_Mutation_p.R7343Q|DST_ENST00000370788.2_Missense_Mutation_p.R5257Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R7128Q|DST_ENST00000244364.6_Missense_Mutation_p.R5053Q|DST_ENST00000370769.4_Missense_Mutation_p.R7454Q			Q03001	DYST_HUMAN	dystonin	7452					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGGAAGTCGAAGCTTGCT	0.463000													26	95					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122264	30122264	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:30122264C>T	ENST00000449742.2	-	7	1004		c.e7-1		TRIM10_ENST00000376704.3_Splice_Site	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10							cytoplasm	zinc ion binding			ovary(1)	1						GAAATGTGAGCTGTGGGGATA	0.512000													39	109					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48156209	48156209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:48156209C>T	ENST00000244043.4	-	5	600	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	191					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)	GCCTGGCTTTCATGGGTGCGT	0.637000													18	28					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88140778	88140778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:88140778G>A	ENST00000507897.1	+	10	1270	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.R396K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	396										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGATTTCAGAAAACTAGAA	0.343000													21	8					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558498	145558498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:145558498G>A	ENST00000544626.1	+	5	454	c.381G>A	c.(379-381)tgG>tgA	p.W127*	ANKRD35_ENST00000355594.4_Missense_Mutation_p.D147N			Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	0										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCTTCCTGGACGTGTTGGA	0.547000													79	107					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6876188	6876188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:6876188G>A	ENST00000419673.2	+	9	1011	c.794G>A	c.(793-795)gGa>gAa	p.G265E	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G372E|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G424E|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.G424E|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G265E|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G260E|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G265E|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G247E	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	247					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGACTTTCAGGATGTACTGCT	0.388000													53	68					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191529	23191529	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:23191529G>C	ENST00000400191.3	+	5	1145	c.1127G>C	c.(1126-1128)gGg>gCg	p.G376A	EPHB2_ENST00000544305.1_Missense_Mutation_p.G376A|EPHB2_ENST00000374627.1_Missense_Mutation_p.G370A|EPHB2_ENST00000374630.3_Missense_Mutation_p.G376A|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.G376A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	376	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCCGCTGCGGGGACAATGTA	0.637000													52	70					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799764	45799764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:45799764G>A	ENST00000553795.1	-	4	415	c.107C>T	c.(106-108)tCg>tTg	p.S36L	OR13A1_ENST00000536058.1_Missense_Mutation_p.S36L|OR13A1_ENST00000374401.2_Missense_Mutation_p.S36L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGGGTGCTCCGAAAAGCCCTG	0.532000													46	11					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146664	154146664	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:154146664T>G	ENST00000389740.2	-	1	840	c.741A>C	c.(739-741)agA>agC	p.R247S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	247						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)			GGGAAACCACTCTCCCCGCAG	0.642000													31	39					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76730143	76730143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:76730143C>T	ENST00000538159.1	+	22	2441	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	USO1_ENST00000514213.2_Missense_Mutation_p.S790F			O60763	USO1_HUMAN	USO1 vesicle transport factor	805					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACTCACAATCTGTGGAGATC	0.323000													13	16					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029487	41029487	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:41029487C>T	ENST00000324545.7	+	19	3509	c.2877_splice	c.e19+1	p.S959_splice	USP9X_ENST00000378308.2_Splice_Site_p.S959_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	959					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAGATAAATCGGTATGTATG	0.333000													21	24					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122092264	122092264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:122092264C>T	ENST00000355329.3	-	3	549	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	127										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TACATGCGGCCCCACCCGCTG	0.582000													8	14					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911206	43911206	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43911206A>T	ENST00000314537.5	+	11	1281	c.1056A>T	c.(1054-1056)gaA>gaT	p.E352D	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000293493.7_Missense_Mutation_p.E177D|CRHR1_ENST00000577353.1_Missense_Mutation_p.E352D|CRHR1_ENST00000398285.3_Missense_Mutation_p.E381D|CRHR1_ENST00000352855.5_Missense_Mutation_p.E312D	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	381					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTTCCTGGAATCCTTCCAGG	0.597000													70	118					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864179	26864179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:26864179C>T	ENST00000226247.2	+	8	1701	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P558S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	558					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCCCTCGACCCCCTGGTACT	0.602000													97	116					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58570951	58570951	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:58570951T>A	ENST00000348616.4	+	12	2030	c.1730T>A	c.(1729-1731)tTc>tAc	p.F577Y	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.F577Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	577					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGCCACTCTTCATTGGAGAC	0.478000													39	53					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144483	65144483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:65144483G>A	ENST00000417511.2	-	9	1412	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SLC25A45_ENST00000527174.1_Missense_Mutation_p.A135V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A73V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.A31V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A111V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A93V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A111V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.A135V	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	135					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CCCTGGCTGGGCCCTTGGCTC	0.662000													34	34					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986533	51986533	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51986533G>A	ENST00000396477.4	+	4	957	c.936G>A	c.(934-936)agG>agA	p.R312R	CEACAM18_ENST00000451626.1_Silent_p.R373R	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	373	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACGTCAGGATCCAGGCCC	0.597000													36	56					0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79620252	79620252	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:79620252A>G	ENST00000573076.1	-	2	709	c.234T>C	c.(232-234)ccT>ccC	p.P78P	PDE6G_ENST00000571224.1_Silent_p.P28P|PDE6G_ENST00000571004.1_Silent_p.P28P|PDE6G_ENST00000331056.5_Silent_p.P28P|PDE6G_ENST00000574777.1_Intron			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	28					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTTAAATTTAGGGGGCCCTT	0.612000													78	111					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3137609	3137609	+	Silent	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:3137609T>A	ENST00000380368.2	+	6	1139	c.495T>A	c.(493-495)gtT>gtA	p.V165V	BPHL_ENST00000380375.3_Silent_p.V165V|BPHL_ENST00000434640.1_Silent_p.V165V|BPHL_ENST00000380379.5_Silent_p.V182V			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	182					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCCGAGATGTTTCCAAATGGA	0.418000													102	225					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067089	18067089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:18067089G>A	ENST00000506618.2	-	1	397	c.317C>T	c.(316-318)cCa>cTa	p.P106L		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	106					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GGCAGAGATTGGGGACCGGCT	0.463000													66	104					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958874	51958874	+	Silent	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51958874A>G	ENST00000321424.3	-	4	915	c.849T>C	c.(847-849)tgT>tgC	p.C283C	SIGLEC8_ENST00000430817.1_Silent_p.C174C|SIGLEC8_ENST00000340550.5_Silent_p.C190C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	283	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)		TGTTGACAGCACAGACCAGGC	0.612000													4	150					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433510	6433510	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6433510G>A	ENST00000321510.6	-	1	263	c.195C>T	c.(193-195)ctC>ctT	p.L65L		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	65					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCTGTGACGGGAGATGTTCAA	0.602000													70	101					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2870993	2870993	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2870993C>T	ENST00000455114.1	+	5	688	c.582C>T	c.(580-582)gtC>gtT	p.V194V	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Silent_p.V196V|PRSS21_ENST00000450020.3_Silent_p.V196V	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	196	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AAGTTCAGGTCGCCATCATAA	0.547000													236	304					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089189	220089189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:220089189G>A	ENST00000366926.3	-	4	1221	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.P109S	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	354					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTGTCCTTAGGATACTTGATG	0.443000													177	115					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:88533290G>A	ENST00000399271.1	+	3	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	DSPP_ENST00000282478.7_Missense_Mutation_p.E29K|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000													31	47					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957761	54957761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:54957761G>A	ENST00000319167.8	+	13	2223	c.2111G>A	c.(2110-2112)gGt>gAt	p.G704D	TRO_ENST00000173898.7_3'UTR|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.G307D|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.G704D	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN	trophinin	0					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGCTGAGGGTGTCATGTGA	0.408000													99	139					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433974	179433974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179433974C>T	ENST00000589042.1	-	326	77109	c.76885G>A	c.(76885-76887)Ggg>Agg	p.G25629R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16689R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16756R|TTN_ENST00000342992.6_Missense_Mutation_p.G23061R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16564R|TTN_ENST00000591111.1_Missense_Mutation_p.G23988R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23988							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)			TTGGATCCCCCATCCAACAAA	0.393000													125	207					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113286421	113286421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:113286421C>T	ENST00000264852.4	+	3	1105	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	SIDT1_ENST00000393830.3_Missense_Mutation_p.R127C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	127						integral to membrane		p.R127C(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGAAGTGAGCCGCACCTTATG	0.478000													66	111					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091618	31091618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31091618C>T	ENST00000394979.2	+	1	4396	c.3973C>T	c.(3973-3975)Cag>Tag	p.Q1325*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q1325*			O15015	ZN646_HUMAN	zinc finger protein 646	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGAGACGGGCCAGTACAGCTG	0.692000													28	22					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031522	157031522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:157031522G>A	ENST00000362010.2	-	11	2205	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.S633F|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	633						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTCTGAATGGACAGGGGTTC	0.458000													53	87					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106311934	106311934	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:106311934C>T	ENST00000390556.2	-	0	76																											TCAAGCATGCCAGGACCACAG	0.557000													61	77					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039070	11039070	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:11039070C>T	ENST00000470054.1	-	0	1133									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGAAAGTTCAGAATCTTCT	0.393000													12	439					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546107	11546107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:11546107C>T	ENST00000389362.4	-	3	940	c.905G>A	c.(904-906)gGa>gAa	p.G302E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGA	0.597000													242	357					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141635679C>T	ENST00000546910.1	-	5	476	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E71K|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E71K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000													43	72					0	0	1	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196826	89196826	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:89196826C>T	ENST00000390244.2	+	0	79																											GTCCCAGGTTCACCTCCTCAG	0.463000													19	28					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45548195	45548195	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:45548195C>T	ENST00000291576.7	+	19	2554	c.2427C>T	c.(2425-2427)tcC>tcT	p.S809S	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	809						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGCTTCCTCCTTTGAAGTGT	0.493000													67	96					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879077	24879077	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24879077A>G	ENST00000382554.3	+	4	2395	c.2077A>G	c.(2077-2079)Acc>Gcc	p.T693A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	693					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCAGGGCCAACCTTGGATGT	0.587000													8	15					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553440	140553440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140553440G>A	ENST00000231137.3	+	1	1198	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		342	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAAACGATAATCGACC	0.448000													41	45					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172778	197172778	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197172778C>T	ENST00000260983.2	-	11	2648	c.2466G>A	c.(2464-2466)agG>agA	p.R822R	HECW2_ENST00000409111.1_Silent_p.R466R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	822	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGTAGAAGATCCTGCCGTGGC	0.532000													22	30					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751604	62751604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:62751604C>T	ENST00000383710.4	-	2	846	c.497G>A	c.(496-498)gGg>gAg	p.G166E	CADPS_ENST00000490353.2_Missense_Mutation_p.G166E|CADPS_ENST00000357948.3_Missense_Mutation_p.G166E|CADPS_ENST00000283269.9_Missense_Mutation_p.G166E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	166					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.G166V(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGGGTTTCCCCATTGAGGAA	0.473000													75	24					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479530	66479530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:66479530C>T	ENST00000256447.4	-	3	1298	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	381					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GCCTCTATGTCATTATGGCTT	0.463000													64	96					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27226198	27226198	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:27226198T>G	ENST00000286096.4	+	4	840	c.665_splice	c.e4-1	p.L223_splice	KDM8_ENST00000441782.2_Splice_Site_p.L261_splice|KDM8_ENST00000567785.1_3'UTR|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	223					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TTCTGCTAGTTTGGAGTATAT	0.498000													91	119					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912712	77912712	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77912712C>T	ENST00000321110.1	-	2	1501	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	402							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						AGGAACTTTTCCCTAATGGAT	0.502000													62	98					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330095	125330095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:125330095C>T	ENST00000304865.2	-	1	743	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGTGAGGATTCGTATATAAGA	0.428000													12	7					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35338930	35338930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:35338930C>T	ENST00000278379.3	-	2	433	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	SLC1A2_ENST00000395750.1_Missense_Mutation_p.V42M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.V51M|SLC1A2_ENST00000395753.1_Missense_Mutation_p.V42M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	51					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CTACCAAACACCGTCAGGGTG	0.622000													25	42					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629125	19629125	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:19629125T>C	ENST00000299295.2	+	2	770	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	CHODL_ENST00000543733.1_Missense_Mutation_p.S108P|CHODL_ENST00000400128.1_Missense_Mutation_p.S86P|CHODL_ENST00000400135.1_Missense_Mutation_p.S86P|CHODL_ENST00000400127.1_Missense_Mutation_p.S86P|CHODL_ENST00000400131.1_Missense_Mutation_p.S86P|CHODL_ENST00000338326.3_Missense_Mutation_p.S86P	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	127	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TGGAAGCAATTCCCAGTACCG	0.502000													57	96					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058862	42058862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:42058862G>A	ENST00000219905.7	+	24	8763	c.8582G>A	c.(8581-8583)cGg>cAg	p.R2861Q	MGA_ENST00000389936.4_Missense_Mutation_p.R2822Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2652Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2652Q|MGA_ENST00000570161.1_Missense_Mutation_p.R2861Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2822						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)		GATGCTCGGCGGGCTTTTATT	0.468000													82	92					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:52643768G>A	ENST00000356770.4	-	15	2034	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5.		R -> C.		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								58	22					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923281	26923281	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:26923281G>C	ENST00000381527.3	+	3	780	c.277G>C	c.(277-279)Gtg>Ctg	p.V93L	CDK8_ENST00000536792.1_Missense_Mutation_p.V93L	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	93	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGATAGGAAGGTGTGGCTTCT	0.413000													85	205					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671911	49671911	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:49671911C>T	ENST00000561648.1	-	4	1205	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF423_ENST00000563137.2_Silent_p.P324P|ZNF423_ENST00000562520.1_Silent_p.P324P|ZNF423_ENST00000262383.2_Silent_p.P384P|ZNF423_ENST00000562871.1_Silent_p.P324P|ZNF423_ENST00000535559.1_Silent_p.P267P|ZNF423_ENST00000567169.1_Silent_p.P267P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	384					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGTGGAGTCCGGGGTGGAGC	0.652000													29	50					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581982	40581982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:40581982C>T	ENST00000450241.2	-	6	576	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ZNF780A_ENST00000595687.2_Missense_Mutation_p.E123K|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E124K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E124K|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E123K|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTCTATATTCTGAGTCATTT	0.348000													30	56					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558150	56558150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:56558150G>A	ENST00000394023.3	-	29	3424	c.3319C>T	c.(3319-3321)Caa>Taa	p.Q1107*	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.Q1169*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.Q1200*|SMARCC2_ENST00000347471.4_Intron	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1076	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGGCTTTGGGCTGCGGCG	0.652000													82	98					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560240	145560240	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:145560240G>A	ENST00000355594.4	+	8	813	c.726G>A	c.(724-726)ctG>ctA	p.L242L	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	242										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGGCCCTGAGCCGGCGGC	0.557000													61	67					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294762	109294762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:109294762C>T	ENST00000327419.6	+	2	806	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	135						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGAGGCAGCCCCGGGACTC	0.716000													64	75					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100352147	100352147	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:100352147C>T	ENST00000273352.3	+	4	641	c.373C>T	c.(373-375)Cta>Tta	p.L125L		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CAGTCTCTCTCTATATGGAGA	0.338000													51	47					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60742020	60742020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:60742020G>A	ENST00000303375.5	+	2	632	c.230G>A	c.(229-231)tGg>tAg	p.W77*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	77	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCCAGCGCTGGAAGTGGGTC	0.642000													60	75					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107590	168107590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:168107590C>T	ENST00000409195.1	+	9	9777	c.9688C>T	c.(9688-9690)Cgt>Tgt	p.R3230C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3008C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3230C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3055					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATAGAAACTCGTGGTAGGGA	0.448000													47	46					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087497	11087497	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:11087497C>T	ENST00000400897.3	-	11	1521	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	502	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ATAGTCTTTTCAGGGTGCCCA	0.443000													123	178					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839107	44839107	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:44839107G>A	ENST00000372262.3	-	6	1525	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CDH22_ENST00000537909.1_Silent_p.F375F|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	375	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGTCGCGGAACGTGCCCA	0.711000													20	21					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532725	113532725	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:113532725C>T	ENST00000257600.3	+	6	1862	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	453					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCTGTGCCTCGTGGCCATGT	0.657000													49	64					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110426821	110426821	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:110426821G>T	ENST00000360185.4	-	4	516	c.352C>A	c.(352-354)Cat>Aat	p.H118N	GIT2_ENST00000355312.3_Missense_Mutation_p.H118N|GIT2_ENST00000457474.2_Missense_Mutation_p.H118N|GIT2_ENST00000547815.1_Missense_Mutation_p.H118N|GIT2_ENST00000551209.1_Missense_Mutation_p.H118N|GIT2_ENST00000338373.5_Missense_Mutation_p.H118N|GIT2_ENST00000553118.1_Missense_Mutation_p.H118N|GIT2_ENST00000354574.4_Missense_Mutation_p.H118N|GIT2_ENST00000356259.4_Missense_Mutation_p.H118N|GIT2_ENST00000343646.5_Missense_Mutation_p.H118N|GIT2_ENST00000361006.5_Missense_Mutation_p.H118N|GIT2_ENST00000320063.9_Missense_Mutation_p.H118N			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	118	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGCAAGCGATGGACGAACGCT	0.453000													10	311					0.0135373	0.0135496	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92734676	92734676	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92734676C>T	ENST00000379958.2	-	3	1004	c.735G>A	c.(733-735)ggG>ggA	p.G245G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	245						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAATTTTCCCATGGGGTT	0.378000													62	122					0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184059834	184059834	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184059834C>T	ENST00000310585.4	+	1	1577	c.213C>T	c.(211-213)ctC>ctT	p.L71L	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000383847.2_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	71						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGGCTTCTCCACCCTCCCC	0.602000													141	227					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30866003	30866003	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:30866003C>T	ENST00000324771.8	+	18	2918	c.2370C>T	c.(2368-2370)aaC>aaT	p.N790N	DDR1_ENST00000376567.2_Silent_p.N753N|DDR1_ENST00000454612.2_Silent_p.N753N|DDR1_ENST00000376575.3_Silent_p.N796N|DDR1_ENST00000418800.2_Silent_p.N753N|DDR1_ENST00000376569.3_Silent_p.N753N|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376568.3_Silent_p.N790N|DDR1_ENST00000452441.1_Silent_p.N790N|DDR1_ENST00000376570.4_Silent_p.N753N|DDR1_ENST00000513240.1_Silent_p.N796N|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.N771N			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	790	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGAGCCGGAACCTCTATGCTG	0.582000													34	94					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108188969	108188969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108188969C>T	ENST00000273353.3	-	15	1590	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	512	Myosin head-like.					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						TTCTTATATTCCTCTTGCTCC	0.338000													33	48					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069774	36069774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:36069774G>A	ENST00000303965.4	-	33	5359	c.4870C>T	c.(4870-4872)Cga>Tga	p.R1624*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1624					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGTCGATTTCGAAGTTTATCG	0.512000													58	81					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744849	81744849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:81744849G>A	ENST00000555447.1	-	6	1218	c.806C>T	c.(805-807)tCa>tTa	p.S269L	STON2_ENST00000267540.2_Missense_Mutation_p.S269L|STON2_ENST00000556280.1_5'UTR	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	269					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATCCCATTGAATTATAAGG	0.453000													57	106					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353768	172353768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172353768C>T	ENST00000475381.1	-	4	780	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	NCEH1_ENST00000538775.1_Missense_Mutation_p.G223S|NCEH1_ENST00000543711.1_Missense_Mutation_p.G50S|NCEH1_ENST00000273512.3_Missense_Mutation_p.G215S			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	183					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAAATTCTGCCTGGATCAACC	0.463000													109	141					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490650	65490650	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65490650G>A	ENST00000261883.4	-	9	2140	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	658					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGAGAACATGCCATACGTCC	0.532000													56	71					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010324	71010324	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:71010324C>T	ENST00000354624.5	+	12	1885	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	HKDC1_ENST00000395086.2_Silent_p.F584F	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	584					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCGCCGACTTCCTGGACTACA	0.562000													126	35					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16296029	16296029	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:16296029G>A	ENST00000205557.7	-	9	1034	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	335	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TAAACTCCAGGAAAAGGCTTG	0.567000													9	26					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473728	42473728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42473728C>T	ENST00000545399.1	-	19	2739	c.2586G>A	c.(2584-2586)atG>atA	p.M862I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.M819I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M860I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.M849I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	849					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGCCTGGATCATTCCTGGAA	0.607000													63	77					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310340	43310340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:43310340G>A	ENST00000321925.4	+	3	287	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000589700.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000436407.3_Missense_Mutation_p.E75K|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E75K|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	19						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTAGGGGTGAAAACCAGGT	0.507000													53	71					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444439	103444439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:103444439G>A	ENST00000358392.2	-	34	3039	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P780S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P896S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P857S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	896	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCAGTGGGACCTCTTGCA	0.408000													42	79					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113067660	113067660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:113067660G>A	ENST00000409871.1	+	4	936	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E179K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	179							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GCAAGCTAAAGAAACCTCAAA	0.373000													15	18					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41514563	41514563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:41514563G>A	ENST00000373198.3	-	2	333	c.98C>T	c.(97-99)tCc>tTc	p.S33F	PTPRT_ENST00000356100.2_Missense_Mutation_p.S33F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S33F|PTPRT_ENST00000485499.1_5'UTR|PTPRT_ENST00000373187.1_Missense_Mutation_p.S33F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	33	MAM.				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)				CTCATCAAAGGAACAGCCACC	0.478000													40	75					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139820289	139820289	+	Silent	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:139820289A>C	ENST00000397560.2	-	8	1189	c.1092T>G	c.(1090-1092)gcT>gcG	p.A364A	JHDM1D_ENST00000006967.5_Silent_p.A364A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		364	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCCCCCCAAAAGCCATACAGT	0.378000													63	112					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710852	14710852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:14710852G>A	ENST00000547437.1	+	12	829	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	CLEC17A_ENST00000397439.2_Missense_Mutation_p.R234Q|CLEC17A_ENST00000417570.1_Missense_Mutation_p.R251Q	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	251						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GACTGCCGCCGAATTACCTGT	0.552000													37	50					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158041767	158041767	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:158041767A>G	ENST00000264428.4	+	3	452	c.182A>G	c.(181-183)aAc>aGc	p.N61S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.N61S|GLRB_ENST00000509282.1_Missense_Mutation_p.N61S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	61					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.N61I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AATATCTTGAACAGGTTATTG	0.358000													79	138					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139583	33139583	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33139583T>C	ENST00000341947.2	-	42	3284	c.3057A>G	c.(3055-3057)gaA>gaG	p.E1019E	COL11A2_ENST00000395197.1_Silent_p.E959E|COL11A2_ENST00000357486.1_Silent_p.E998E|COL11A2_ENST00000361917.1_Silent_p.E912E|COL11A2_ENST00000374714.1_Silent_p.E993E|COL11A2_ENST00000374708.4_Silent_p.E933E|COL11A2_ENST00000374713.1_Silent_p.E972E|COL11A2_ENST00000374712.1_Silent_p.E938E|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1019	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						CTGCACCTCGTTCCCCAGGGG	0.637000													8	25					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810971	140810971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:140810971G>A	ENST00000509479.2	-	2	2475	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	MAML3_ENST00000398940.1_Missense_Mutation_p.P68L|MAML3_ENST00000327122.5_Missense_Mutation_p.P384L	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	536	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTACATCATTGGGCTATTTGG	0.448000													189	317					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526604	141526604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:141526604C>T	ENST00000264952.2	+	3	1305	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	390	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGACGAACACCATTCAAAGA	0.433000													42	48					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963783	73963783	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73963783C>T	ENST00000373468.1	-	3	1260	c.609G>A	c.(607-609)caG>caA	p.Q203Q	KIAA2022_ENST00000055682.5_Silent_p.Q203Q			Q5QGS0	K2022_HUMAN	KIAA2022	203					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGCCTAGGAGCTGGTCTGAGA	0.448000													41	51					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1918277	1918277	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:1918277C>T	ENST00000316097.8	+	4	555	c.288C>T	c.(286-288)gcC>gcT	p.A96A	SCAMP4_ENST00000409472.1_Silent_p.A96A|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	96					protein transport	integral to membrane							Ovarian(11;2.11e-07)|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)		TCTACAAGGCCTTCCGGTGAG	0.672000													16	11					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880679	200880679	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:200880679T>C	ENST00000367342.4	+	9	1513	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	C1orf106_ENST00000413687.2_Missense_Mutation_p.F353S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	438										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GATTCCTGCTTTCCCGCGACC	0.687000													354	240					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103213197	103213197	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:103213197C>T	ENST00000395067.2	+	3	1048	c.777C>T	c.(775-777)acC>acT	p.T259T	MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						AAACTTTTACCAAGGAATGGC	0.418000													33	12					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845607	182845607	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:182845607C>T	ENST00000367549.3	+	18	2165	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	685	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGATTCTACCCCTGCATTCTC	0.393000													30	79					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000396620.3_Silent_p.F1098F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000													71	99					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80654688	80654688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:80654688C>T	ENST00000299564.8	-	4	1134	c.979G>A	c.(979-981)Gag>Aag	p.E327K	CDYL2_ENST00000562812.1_Missense_Mutation_p.E328K|CDYL2_ENST00000563890.1_Missense_Mutation_p.E328K|CDYL2_ENST00000566173.1_Missense_Mutation_p.E328K	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	327						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGAGTGCTCTCCTTTCGCCGG	0.562000													41	67					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475680	66475680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:66475680C>T	ENST00000533211.1	-	12	1613	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A428T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A428T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	428					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGAAGCGGGCGGCCAGCTGC	0.667000													24	47					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176327	104176327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:104176327C>T	ENST00000020673.5	-	2	995	c.469G>A	c.(469-471)Gac>Aac	p.D157N	PSD_ENST00000406432.1_Missense_Mutation_p.D157N	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	157	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGAGTGGGTCTGATGTGGAT	0.657000													24	7					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68419072	68419072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:68419072G>A	ENST00000297770.4	-	6	801	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	CPA6_ENST00000297769.4_Missense_Mutation_p.H48Y|CPA6_ENST00000518549.1_Missense_Mutation_p.H196Y	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	196	Substrate binding (By similarity).				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCTCTTGCATGAATACCACAG	0.423000													126	72					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761879	164761879	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:164761879G>A	ENST00000420696.2	+	3	602	c.414G>A	c.(412-414)ggG>ggA	p.G138G	PBX1_ENST00000367897.1_Silent_p.G138G|PBX1_ENST00000559240.1_Silent_p.G138G|PBX1_ENST00000540236.1_Silent_p.G138G|PBX1_ENST00000401534.1_Silent_p.G138G|PBX1_ENST00000560641.1_Silent_p.G33G|PBX1_ENST00000540246.1_Silent_p.G33G	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	138					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						cTTCTGGAGGGGCAGGTTCAG	0.592000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								37	52					0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2757318	2757318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2757318C>T	ENST00000301738.4	+	6	769	c.695C>T	c.(694-696)tCa>tTa	p.S232L	KCTD5_ENST00000564195.1_Silent_p.L201L	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	232					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGGCTCAAGGATGTGA	0.473000													40	60					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72694588	72694588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72694588G>A	ENST00000326165.6	-	4	590	c.479C>T	c.(478-480)cCc>cTc	p.P160L	CD300LF_ENST00000583937.1_Missense_Mutation_p.P175L|CD300LF_ENST00000581500.1_Missense_Mutation_p.P178L|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000301573.9_Silent_p.A175A|CD300LF_ENST00000464910.1_Missense_Mutation_p.P163L|CD300LF_ENST00000361254.4_Missense_Mutation_p.P178L|CD300LF_ENST00000469092.1_Intron|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	160						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAAGATGAGGGGCAGGAGGAC	0.572000													30	35					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128922436	128922436	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:128922436C>T	ENST00000356892.3	+	3	297	c.183C>T	c.(181-183)acC>acT	p.T61T		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	61										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTGTCCCCACCCCAGAAGATG	0.542000													48	56					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852530	40852530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:40852530G>A	ENST00000254691.5	+	3	1295	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	366					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGAGAATTTGGAAATTCGAGA	0.458000													34	56					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76548655	76548655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:76548655G>A	ENST00000314067.6	+	6	347	c.313G>A	c.(313-315)Gat>Aat	p.D105N	IFT43_ENST00000238628.6_Missense_Mutation_p.D110N	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	105					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TATCATTCCGGATCTGGAGGA	0.483000													257	310					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34131546	34131546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:34131546G>A	ENST00000331923.4	-	7	1417	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.R410*	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TGCTGCTGTCGATTTGTTTTG	0.413000													49	71					0	0	1	0	0
FAM3A	60343	broad.mit.edu	37	X	153735629	153735629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153735629C>T	ENST00000434658.2	-	7	920	c.451G>A	c.(451-453)Gag>Aag	p.E151K	FAM3A_ENST00000359889.5_Missense_Mutation_p.E168K|FAM3A_ENST00000393572.1_Missense_Mutation_p.E130K|FAM3A_ENST00000369643.1_Missense_Mutation_p.E168K|FAM3A_ENST00000447601.2_Missense_Mutation_p.E168K|FAM3A_ENST00000369641.3_Missense_Mutation_p.E175K	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	168						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCAGCTCACTGAAGAGC	0.597000													27	50					0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57021158	57021158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:57021158G>A	ENST00000374919.3	-	2	545	c.223C>T	c.(223-225)Cag>Tag	p.Q75*		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	75					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						ACAGGTACCTGATCCAGAACG	0.458000													141	187					0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599238	22599238	+	Missense_Mutation	SNP	C	C	T	rs146019843	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:22599238C>T	ENST00000403807.3	+	1	152	c.13C>T	c.(13-15)Cct>Tct	p.P5S	VPREB1_ENST00000302273.2_Silent_p.L8L			P12018	VPREB_HUMAN	pre-B lymphocyte 1	5					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GTCCTGGGCTCCTGTCCTGCT	0.632000													90	15					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444986	55444986	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55444986A>T	ENST00000446217.1	-	10	3079	c.2677T>A	c.(2677-2679)Ttt>Att	p.F893I	NLRP7_ENST00000590030.1_Missense_Mutation_p.F865I|NLRP7_ENST00000340844.2_Missense_Mutation_p.F865I|NLRP7_ENST00000448121.2_Missense_Mutation_p.F837I|NLRP7_ENST00000592784.1_Missense_Mutation_p.F865I|NLRP7_ENST00000328092.5_Missense_Mutation_p.F837I|NLRP7_ENST00000588756.1_Missense_Mutation_p.F865I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	865							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCACACAGAAACTTCACCCCT	0.512000													47	54					0	0	1	0	0
TK1	7083	broad.mit.edu	37	17	76171072	76171072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:76171072G>A	ENST00000588734.1	-	6	810	c.572C>T	c.(571-573)tCc>tTc	p.S191F	TK1_ENST00000301634.7_Intron|TK1_ENST00000405273.1_Intron|TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR			P04183	KITH_HUMAN	thymidine kinase 1, soluble	171					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			GCCAGGACAGGAAGGAGGCAG	0.642000													20	15					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221588	47221588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:47221588G>A	ENST00000319190.5	+	7	1304	c.936G>A	c.(934-936)atG>atA	p.M312I	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.M312I|TTC7A_ENST00000409245.1_Missense_Mutation_p.M278I|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	312							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGAGTTCATGGGCAAGGAGG	0.612000													85	113					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:159683778G>A	ENST00000255030.5	-	2	315	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000													56	70					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632434	102632434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:102632434C>T	ENST00000332549.3	+	4	663	c.434C>T	c.(433-435)tCa>tTa	p.S145L	IL1R2_ENST00000393414.2_Missense_Mutation_p.S145L|IL1R2_ENST00000441002.1_Missense_Mutation_p.S145L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	145	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TTAACCTTGTCAACCTCTGGG	0.418000													44	55					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49460443	49460443	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:49460443G>A	ENST00000301068.6	-	4	473	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	78					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						CATAACCATGGACCCCAATGA	0.463000													48	67					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13607758	13607758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:13607758G>A	ENST00000361306.1	+	2	415	c.158G>A	c.(157-159)tGg>tAg	p.W53*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.W53*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	53					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGCTACGGCTGGAGAAGAAAC	0.483000													85	90					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983803	110983803	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:110983803G>A	ENST00000354300.3	-	3	772	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	162	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CTGACAACCAGGAAGCCTGAA	0.547000													42	62					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592310	38592310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:38592310C>T	ENST00000413689.1	-	28	5746	c.5553G>A	c.(5551-5553)atG>atA	p.M1851I	SCN5A_ENST00000333535.4_Missense_Mutation_p.M1851I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M1833I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M1818I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M1850I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M1833I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M1797I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M1797I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M1850I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M1797I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1851					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)	AGAGAATGTCCATGCAATGGA	0.567000													70	17					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696554	20696554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20696554G>A	ENST00000307493.4	-	2	431	c.364C>T	c.(364-366)Cct>Tct	p.P122S	ACSM1_ENST00000520010.1_Missense_Mutation_p.P122S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	122					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACCACTCAGGAACTCGAGGC	0.587000													57	100					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97334297	97334297	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:97334297T>C	ENST00000266742.4	+	10	1567	c.1228T>C	c.(1228-1230)Ttc>Ctc	p.F410L	NEDD1_ENST00000457368.2_Missense_Mutation_p.F321L|NEDD1_ENST00000557644.1_Missense_Mutation_p.F417L|NEDD1_ENST00000429527.2_Missense_Mutation_p.F410L|NEDD1_ENST00000411739.2_Missense_Mutation_p.F321L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	410					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AGGTGACATGTTCTCACCTAT	0.368000													64	69					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368180	43368180	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43368180G>A	ENST00000344686.2	-	0	89							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAGACCTGGGAGAACACAGG	0.552000													40	51					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395831	47395831	+	Missense_Mutation	SNP	G	G	A	rs58897090		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:47395831G>A	ENST00000310638.4	-	12	1547	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCCTCCTGAGACGCAGGTGG	0.577000													8	86					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115180	15115180	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:15115180G>A	ENST00000378217.3	+	9	1096	c.909G>A	c.(907-909)aaG>aaA	p.K303K	OLAH_ENST00000378228.3_Silent_p.K250K|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	250					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATTAATCAAGAACTACATAA	0.338000													24	29					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359037	102359037	+	Silent	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102359037T>A	ENST00000332238.4	+	1	672	c.648T>A	c.(646-648)atT>atA	p.I216I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCTGGTAATTTCCTACATCT	0.478000													47	113					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183621060	183621060	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:183621060T>G	ENST00000264065.6	+	18	2088	c.1673T>G	c.(1672-1674)gTg>gGg	p.V558G		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	558	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCCTTCAGTGGTCTCCCTT	0.393000													59	106					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088228	50088228	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:50088228A>G	ENST00000305386.2	+	1	740	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	81					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GCGGTCCCCCAGCCCGAGGCG	0.687000													37	52					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152370931	152370931	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:152370931C>T	ENST00000427231.2	-	159	23230	c.23028G>A	c.(23026-23028)agG>agA	p.R7676R	NEB_ENST00000603639.1_Silent_p.R7676R|NEB_ENST00000409198.1_Silent_p.R5975R|NEB_ENST00000172853.10_Silent_p.R5975R|NEB_ENST00000397345.3_Silent_p.R7676R|NEB_ENST00000604864.1_Silent_p.R7676R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5975					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAGATCTTTCCTGTACTCTT	0.393000													105	142					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50882336	50882336	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:50882336C>T	ENST00000253727.5	+	7	1060	c.825C>T	c.(823-825)atC>atT	p.I275I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000411902.2_Silent_p.I178I|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000593926.1_Silent_p.I275I	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	275	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCTGGCCATCATCTCAGTCC	0.642000													127	115					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50384470	50384470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:50384470G>A	ENST00000434422.1	-	17	2121	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	RACGAP1_ENST00000454520.2_Missense_Mutation_p.P607L|RACGAP1_ENST00000427314.2_Missense_Mutation_p.P607L|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000547905.1_Missense_Mutation_p.P607L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.P607L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.P607L			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	607					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGCATACCTAGGAGTGTTCTT	0.403000													63	99					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473848	52473848	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:52473848G>A	ENST00000219746.9	-	7	1304	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TOX3_ENST00000407228.3_Silent_p.I335I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	340					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.I335I(1)|p.I340I(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAACAGAACGGATGGTCTGGG	0.453000													31	42					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366799	40366799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:40366799C>T	ENST00000406785.1	-	7	2368	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D727N|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D763N|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D727N|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D763N|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D758N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D727N|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D727N|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D755N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D758N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	763					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCACATTCATCGTCGTCATCA	0.502000													104	142					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121867	103121867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:103121867C>T	ENST00000295269.4	+	4	1592	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	379					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						GGGCAAGAATCACGAGTGGAA	0.537000													54	80					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085743	42085743	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42085743C>T	ENST00000407170.2	+	4	891	c.78C>T	c.(76-78)acC>acT	p.T26T	CEACAM21_ENST00000187608.9_Silent_p.T154T|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Silent_p.T154T			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	154						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCAGCAGCACCACAGTCACAG	0.537000													67	74					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307350	140307350	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140307350G>A	ENST00000253807.2	+	1	873	c.873G>A	c.(871-873)ggG>ggA	p.G291G	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.G291G|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAAAGTGGGGAGGTGCAAG	0.547000													47	51					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19662553	19662553	+	Silent	SNP	G	G	A	rs35797096		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:19662553G>A	ENST00000328041.6	+	10	1016	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	273						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						AAGGTGCCGGGAACATGGTCA	0.483000													55	84					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:46601349G>A	ENST00000398637.5	-	7	1138	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_ENST00000546893.1_Silent_p.F148F|SLC38A1_ENST00000439706.1_Silent_p.F148F|SLC38A1_ENST00000549049.1_Silent_p.F148F|SLC38A1_ENST00000552197.1_Silent_p.F148F|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	148					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAAGATTACGAACTTCCCTG	0.413000													53	110					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934290	81934290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:81934290G>A	ENST00000359376.3	+	14	1481	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	423	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCCTTCAAGGAAGTATTTGG	0.607000													34	68					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561270	154561270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:154561270C>T	ENST00000404039.1	+	9	1422	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	DPP6_ENST00000332007.3_Missense_Mutation_p.H281Y|DPP6_ENST00000427557.1_Missense_Mutation_p.H236Y|DPP6_ENST00000377770.3_Missense_Mutation_p.H343Y	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	343					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGCCCTACCACTATCCCAA	0.537000													9	17					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300158	10300158	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10300158A>C	ENST00000403437.2	-	31	4418	c.4324T>G	c.(4324-4326)Tgt>Ggt	p.C1442G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1442					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGGCTGCACAGGCTGCATTA	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				37	63					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183658198	183658198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:183658198C>T	ENST00000511685.1	+	17	3328	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.Q1069*					teneurin transmembrane protein 3																		TGCATATAATCAGAAAGTCTA	0.363000													73	115					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554316	20554316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20554316C>T	ENST00000329697.6	-	12	1597	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E477K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E398K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E477K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	477					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTCTCTACCTCCGAGGGTCCA	0.572000													62	97					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431078	66431078	+	Missense_Mutation	SNP	C	C	T	rs2279289	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:66431078C>T	ENST00000383703.3	-	19	3512	c.2909G>A	c.(2908-2910)gGg>gAg	p.G970E	LRIG1_ENST00000273261.3_Missense_Mutation_p.G993E|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	993						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTAGAGCGACCCTTGGCACTC	0.557000													103	158					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673835	120673835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:120673835C>T	ENST00000273666.6	+	3	509	c.238C>T	c.(238-240)Cca>Tca	p.P80S	STXBP5L_ENST00000492541.1_Missense_Mutation_p.P80S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P80S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P80S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P80S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	80					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)		AGCCTTTGATCCAGTTCAGAA	0.378000													47	69					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405474	135405474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:135405474G>A	ENST00000394143.1	+	5	899	c.608G>A	c.(607-609)gGa>gAa	p.G203E	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.G140E|GPR112_ENST00000370652.1_Missense_Mutation_p.G203E|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	203					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAGATGGAAATATAGTT	0.423000													81	128					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184710	72184710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:72184710C>T	ENST00000537465.1	-	5	591	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E145K|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	145										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCCCATTTCCTCCTCATAG	0.507000													40	72					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090588	184090588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184090588C>T	ENST00000421442.2	-	6	658	c.659G>A	c.(658-660)tGg>tAg	p.W220*	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.G255R|THPO_ENST00000204615.7_Missense_Mutation_p.G259R			P40225	TPO_HUMAN	thrombopoietin	0					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)			GGAAAGAGTCCACGAGTTCCA	0.562000													80	134					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070863	133070863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:133070863C>T	ENST00000326499.6	-	6	1466	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	VNN2_ENST00000525289.1_Missense_Mutation_p.E227K|VNN2_ENST00000525270.1_Missense_Mutation_p.E395K	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.E448K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373000													46	8					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886157	55886157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55886157C>T	ENST00000379662.1	+	1	11	c.11C>T	c.(10-12)tCa>tTa	p.S4L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGCAGAAGTCAGTAATGAGA	0.368000													70	73					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33151926	33151926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33151926C>T	ENST00000341947.2	-	8	1342	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G351E|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G346E|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G325E|COL11A2_ENST00000374712.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	372	Nonhelical 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						ACTTACGGCTCCTGAGTGGGC	0.532000													46	128					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364490	5364490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5364490C>T	ENST00000300773.2	-	1	319	c.265G>A	c.(265-267)Gag>Aag	p.E89K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCAATCTCCCTGTGATCC	0.557000													32	41					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019250	3019250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3019250G>A	ENST00000381127.1	+	8	1311	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	ARSF_ENST00000359361.2_Missense_Mutation_p.G364R|ARSF_ENST00000537104.1_Missense_Mutation_p.G364R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	364						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TGGATGGAATGGAATATACAA	0.438000													80	146					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732266	11732266	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:11732266G>A	ENST00000304623.8	-	2	345	c.156C>T	c.(154-156)ctC>ctT	p.L52L	CTNND2_ENST00000359640.2_Silent_p.L52L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	52					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L52L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGACTGAGGCGAGGATGGCAG	0.443000													95	117					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530090	41530090	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:41530090C>T	ENST00000396942.1	-	38	4961	c.4878G>A	c.(4876-4878)gtG>gtA	p.V1626V	ANK1_ENST00000265709.8_Silent_p.V1667V|ANK1_ENST00000347528.4_Silent_p.V1626V|ANK1_ENST00000289734.7_Silent_p.V1626V|ANK1_ENST00000379758.2_Silent_p.V1626V|ANK1_ENST00000352337.4_Silent_p.V1626V|ANK1_ENST00000396945.1_Silent_p.V1626V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1626	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATCTGAATCCACTGTGTCGT	0.562000													180	43					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026220	26026220	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:26026220C>T	ENST00000356865.6	-	2	711	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	200					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTCTCCATCCAGGTTGGCGG	0.597000													76	96					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106796	234106796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:234106796G>A	ENST00000359570.5	+	27	2713	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	INPP5D_ENST00000455936.2_Missense_Mutation_p.G669R|INPP5D_ENST00000450745.1_Missense_Mutation_p.G669R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	917					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAACTACATGGGAGTGGGGCC	0.622000													23	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072036	9072036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9072036G>A	ENST00000397910.4	-	3	15613	c.15410C>T	c.(15409-15411)tCc>tTc	p.S5137F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5139	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						AGGGGAATGGGATTCATGTCC	0.453000													59	94					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884433	110884433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:110884433G>A	ENST00000265171.5	+	9	1862	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	EGF_ENST00000509793.1_Missense_Mutation_p.E431K|EGF_ENST00000503392.1_Missense_Mutation_p.E473K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	473	EGF-like 4.				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)	ACAACTGGATGAAAAAAGCTG	0.433000													88	118					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072387	53072387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:53072387G>A	ENST00000252244.3	-	2	803	c.745C>T	c.(745-747)Caa>Taa	p.Q249*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	249	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AACCGAGATTGATCACTCTTC	0.468000													97	133					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639207	40639207	+	Missense_Mutation	SNP	T	T	C	rs111886720		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:40639207T>C	ENST00000343619.4	+	10	968	c.845T>C	c.(844-846)gTt>gCt	p.V282A	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V239A|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V282A|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V239A|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V282A|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V289A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	282					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGCCAGAGGGTTCTGCAGGCA	0.478000													95	116					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526455	26526455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:26526455G>A	ENST00000456354.2	+	7	960	c.893G>A	c.(892-894)gGc>gAc	p.G298D		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	298					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCATTGGCATCAACCTG	0.517000													33	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057582	9057582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9057582G>A	ENST00000397910.4	-	3	30067	c.29864C>T	c.(29863-29865)aCc>aTc	p.T9955I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9957	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						GGTGGTGATGGTCATTTGTGT	0.498000													168	273					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461483	76461483	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:76461483C>T	ENST00000307431.8	+	5	907	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CNTNAP4_ENST00000478060.1_Silent_p.F150F|CNTNAP4_ENST00000377504.4_Silent_p.F174F|CNTNAP4_ENST00000476707.1_Silent_p.F178F|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	175	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCGAAGTGTTCGGATGTGCAT	0.393000													18	30					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348541	140348541	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140348541G>A	ENST00000289269.5	+	1	2722	c.2190G>A	c.(2188-2190)aaG>aaA	p.K730K	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		730					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCATCAAGTGCTACCGCT	0.423000													51	62					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819512	17819512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:17819512G>A	ENST00000545871.1	-	3	1079	c.619C>T	c.(619-621)Cct>Tct	p.P207S	RAI2_ENST00000331511.1_Missense_Mutation_p.P207S|RAI2_ENST00000451717.1_Missense_Mutation_p.P207S|RAI2_ENST00000360011.1_Missense_Mutation_p.P207S|RAI2_ENST00000415486.3_Missense_Mutation_p.P157S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	207	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCATAGCCAGGAGGAGGCTGA	0.632000													30	41					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537107	5537107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5537107C>T	ENST00000380184.1	-	1	828	c.565G>A	c.(565-567)Gag>Aag	p.E189K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	189										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CACATGAACTCCATGTTGGAC	0.478000													79	94					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076820	9076820	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9076820G>A	ENST00000397910.4	-	3	10829	c.10626C>T	c.(10624-10626)atC>atT	p.I3542I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3543	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						CCATGGTGGTGATGGTGGTGG	0.547000													106	228					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111599	142111599	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:142111599G>A	ENST00000390378.1	-	0	136																											GGTGTGCCCAGAGATAGGAGA	0.532000													69	103					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60060118	60060118	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:60060118G>A	ENST00000505959.1	-	9	922	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ELOVL7_ENST00000438340.1_Silent_p.F145F|ELOVL7_ENST00000508821.1_Silent_p.F145F|ELOVL7_ENST00000425382.1_Silent_p.F145F			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	145					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATACATGAAGGAAAGTCACTT	0.358000													35	54					0	0	1	0	0
TRAV35	28647	broad.mit.edu	37	14	22690222	22690222	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:22690222C>T	ENST00000390462.1	+	0	181																											TGGGGAAGGTCCTGTCCTCTT	0.433000													87	96					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151329	158151329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158151329G>A	ENST00000368171.3	+	3	645	c.146G>A	c.(145-147)tGg>tAg	p.W49*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	49					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTTGGCGTGGCTGGGGGAG	0.642000													155	193					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514088	70514088	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:70514088C>T	ENST00000535149.1	+	3	736	c.93C>T	c.(91-93)acC>acT	p.T31T	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Silent_p.T120T|NONO_ENST00000373841.1_Silent_p.T120T|NONO_ENST00000373856.3_Silent_p.T120T	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	120	Poly-Gln.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAACCCGAACCCTAGCGGAGA	0.473000			T	TFE3	papillary renal cancer								42	72					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74004223	74004223	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:74004223G>A	ENST00000476977.1	+	23	4055	c.2364G>A	c.(2362-2364)cgG>cgA	p.R788R	GTF2IRD1_ENST00000455841.2_Silent_p.R820R|GTF2IRD1_ENST00000265755.3_Silent_p.R803R|GTF2IRD1_ENST00000424337.2_Silent_p.R788R			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	803						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGATCCTGCGGGAGCAGGTGA	0.597000													32	55					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437341	120437341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:120437341C>T	ENST00000369400.1	-	1	1777	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	540	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTTCGAATTCCTGTAATCTC	0.393000													51	62					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107559	35107559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:35107559C>T	ENST00000378561.1	-	2	3768	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	FAM214B_ENST00000378554.2_Missense_Mutation_p.C238Y|FAM214B_ENST00000378557.1_Missense_Mutation_p.C238Y|FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000603301.1_Missense_Mutation_p.C238Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C238Y|FAM214B_ENST00000488109.2_Missense_Mutation_p.C238Y|FAM214B_ENST00000322813.5_Missense_Mutation_p.C238Y			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	238						nucleus											CTTGGTGGGGCAGGGGCCTGG	0.697000													7	59					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234479	65234479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:65234479C>T	ENST00000389722.3	-	29	6174	c.6121G>A	c.(6121-6123)Gtg>Atg	p.V2041M	SPTB_ENST00000556626.1_Missense_Mutation_p.V2041M|SPTB_ENST00000542895.1_Missense_Mutation_p.V2041M|SPTB_ENST00000389720.3_Missense_Mutation_p.V2041M|SPTB_ENST00000389721.5_Missense_Mutation_p.V2041M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2041					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)		ACACTGTCCACTGTGTGTCCA	0.612000													63	82					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121763	50121763	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:50121763G>A	ENST00000374160.3	-	1	514	c.438C>T	c.(436-438)ctC>ctT	p.L146L	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.L146L|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	146						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTACCTCGTGGAGCTCCTTCA	0.567000													33	7					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649168	14649168	+	Missense_Mutation	SNP	T	T	C	rs137897287		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:14649168T>C	ENST00000544627.1	+	14	3628	c.3308T>C	c.(3307-3309)gTt>gCt	p.V1103A	ATF7IP_ENST00000540793.1_Missense_Mutation_p.V1095A|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1094A|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1095A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1095					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTGTAGGTGTTACAGTTCGA	0.373000													38	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830211	38830211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:38830211G>A	ENST00000359357.3	+	42	5890	c.5636G>A	c.(5635-5637)aGa>aAa	p.R1879K	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2096K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1879K					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						ATGGATTTCAGAGGCCTAGGA	0.358000													81	198					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330613	42330613	+	Silent	SNP	G	G	A	rs150858709		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:42330613G>A	ENST00000262418.6	-	17	2339	c.2184C>T	c.(2182-2184)acC>acT	p.T728T		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	728	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.T728T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGAACGCACGGTGGTGGCAC	0.642000													52	62					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547999	100547999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:100547999G>A	ENST00000372907.3	-	1	46	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCATTTTCTGAAGAAATGGG	0.498000													267	352					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47667088	47667088	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:47667088T>G	ENST00000273857.4	-	11	1549	c.1550A>C	c.(1549-1551)aAa>aCa	p.K517T	CORIN_ENST00000508498.1_Missense_Mutation_p.K378T|CORIN_ENST00000502252.1_Missense_Mutation_p.K450T|CORIN_ENST00000505909.1_Missense_Mutation_p.K480T|CORIN_ENST00000504584.1_Missense_Mutation_p.K480T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	517	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.K517T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACATCACATTTTGGTACCAA	0.443000													53	75					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105176039	105176039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:105176039C>T	ENST00000392634.4	+	12	2247	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	INF2_ENST00000330634.7_Missense_Mutation_p.P712L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	712	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGCCATTCCCTGGTGAGCA	0.652000													72	96					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56369832G>A	ENST00000301295.6	+	3	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_ENST00000346986.5_Missense_Mutation_p.G358E|NLRP4_ENST00000587891.1_Missense_Mutation_p.G283E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	358	NACHT.						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)		ATGCAGAAAGGAAAAGACCTG	0.512000													28	48					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160769	160160769	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:160160769G>A	ENST00000368079.3	+	1	485	c.210G>A	c.(208-210)gaG>gaA	p.E70E	CASQ1_ENST00000368078.3_Silent_p.E76E	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCCCCCGAGGATGACAAGG	0.527000													43	49					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587126	55587126	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55587126T>C	ENST00000333976.4	+	1	41	c.21T>C	c.(19-21)aaT>aaC	p.N7N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTGATAGAAATACAAGTGGGA	0.428000													27	41					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136344106	136344106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:136344106C>T	ENST00000371899.4	-	1	153	c.76G>A	c.(76-78)Gac>Aac	p.D26N	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.D26N	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	26						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCGCCCTGTCCCCTGGCGAC	0.761000													13	1					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328695	74328695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:74328695G>A	ENST00000409262.3	+	9	4375	c.4375G>A	c.(4375-4377)Ggg>Agg	p.G1459R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1459							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCTGTTTGGGGCTCTGAA	0.657000													5	6					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	305954	305954	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:305954G>A	ENST00000428720.1	-	11	1913	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC6A12_ENST00000536824.1_Silent_p.F390F|SLC6A12_ENST00000424061.2_Silent_p.F390F|SLC6A12_ENST00000359674.4_Silent_p.F390F|SLC6A12_ENST00000397296.2_Silent_p.F390F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	390					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAGCCCTAGGAATATGAGCA	0.582000													83	103					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802030	148802030	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:148802030G>A	ENST00000378061.2	-	4	1065	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	311					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGCTGCACGAAGGCCCGGC	0.657000													30	51					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172734	197172734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197172734C>T	ENST00000260983.2	-	11	2692	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R481Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	837	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTCGGTCGCTGCCACGT	0.567000													46	57					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350389	100350389	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:100350389C>T	ENST00000542585.1	+	0	2809				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_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)			AACCCACCATCCCCATTGAAG	0.502000													53	23					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248652000	248652000	+	Silent	SNP	G	G	A	rs143666885		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248652000G>A	ENST00000366473.2	+	1	116	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TCATCTTTGTGGTTTTCCTGA	0.478000													84	211					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912097	150912097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150912097G>A	ENST00000329903.4	+	6	1155	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	374					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.M374I(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTCCATGATCTCCAACA	0.517000													75	125					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195655	131195655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:131195655G>A	ENST00000541194.1	-	2	901	c.644C>T	c.(643-645)tCa>tTa	p.S215L	PODXL_ENST00000378555.3_Missense_Mutation_p.S213L|PODXL_ENST00000537928.1_Missense_Mutation_p.S213L|PODXL_ENST00000322985.9_Missense_Mutation_p.S213L	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	213	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGAACTGCTTGAAATTTTCAT	0.532000													38	44					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117305614	117305614	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:117305614T>A	ENST00000003084.6	+	26	4370	c.4238T>A	c.(4237-4239)tTt>tAt	p.F1413Y	CFTR_ENST00000454343.1_Missense_Mutation_p.F1352Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1413	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCAACAATTTTTGGTGAGT	0.343000									Cystic Fibrosis				40	13					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168055	115168055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:115168055G>A	ENST00000393274.1	-	4	1176	c.551C>T	c.(550-552)tCa>tTa	p.S184L	DENND2C_ENST00000393276.3_Missense_Mutation_p.S184L|DENND2C_ENST00000393277.1_Missense_Mutation_p.S184L	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	184										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTCCGTATGAACTATCCAG	0.383000													35	48					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	T	rs28617310	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:11058340A>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													14	214					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31350959	31350959	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:31350959C>T	ENST00000225823.2	-	6	2141	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.E372E	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	372					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCATGGAGAGCTCTTTGTTGT	0.473000													85	109					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25197351	25197351	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:25197351C>T	ENST00000360031.2	+	8	956	c.774C>T	c.(772-774)atC>atT	p.I258I	ENTPD6_ENST00000354989.5_Silent_p.I242I|ENTPD6_ENST00000433259.2_Silent_p.I259I|ENTPD6_ENST00000376652.4_Silent_p.I259I	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	259						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCACTCAGATCGCCTTCCTGC	0.642000													11	16					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113377	59113377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:59113377G>A	ENST00000395153.3	+	4	2072	c.1925G>A	c.(1924-1926)tGg>tAg	p.W642*	DACT1_ENST00000541264.2_Nonsense_Mutation_p.W398*|DACT1_ENST00000335867.4_Nonsense_Mutation_p.W679*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.W398*|DACT1_ENST00000556859.1_Nonsense_Mutation_p.W398*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	679					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TACCGGCGGTGGAAGTCCTCG	0.716000													20	20					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634386	180634386	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:180634386A>T	ENST00000410066.1	-	3	700	c.97T>A	c.(97-99)Ttc>Atc	p.F33I		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	33						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGAAGGAGAAAAGAATTTTC	0.473000													65	65					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170077059	170077059	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:170077059G>C	ENST00000263816.3	-	34	5838	c.5553C>G	c.(5551-5553)caC>caG	p.H1851Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1851					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGATATCTCCGTGGAGTGTCA	0.403000													16	26					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225581	38225581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:38225581C>T	ENST00000379705.3	-	8	2757	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.E634K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E634K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E634K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E461K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E461K|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.E634K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	634	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)		AATTTCCATTCTATATCTGCA	0.423000													50	102					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128641929	128641929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:128641929C>T	ENST00000371122.4	-	7	1084	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E319K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E319K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	319	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTAGATTTTTCATTCTTTATT	0.289000													23	36					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691697	116691697	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:116691697C>T	ENST00000357780.3	-	3	1191	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTCTTTCTCCTTGAAGGTGC	0.602000													33	39					0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88125213	88125213	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:88125213G>A	ENST00000398146.3	-	1	258	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	0					intracellular transport		binding			breast(1)|pancreas(1)	2						GCACCGAGGCGAGGTACCGCT	0.701000													13	26					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12907852C>T	ENST00000317869.6	-	2	516	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGATCGTTTCACACCTGCGT	0.493000													29	206					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55786039	55786039	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:55786039A>T	ENST00000272313.5	-	14	2398	c.2071T>A	c.(2071-2073)Ttc>Atc	p.F691I	SMEK2_ENST00000345102.5_Missense_Mutation_p.F776I|SMEK2_ENST00000407823.3_Missense_Mutation_p.F744I	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	776						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGTGGGAGAAAGTAAATTTG	0.393000													105	130					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209054	34209054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:34209054G>A	ENST00000373381.4	-	14	2176	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	627	CUB 4.					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)				ATCAAACTGAGGCTCCACGTC	0.597000													74	113					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52564870	52564870	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:52564870C>T	ENST00000261839.7	-	6	818	c.657G>A	c.(655-657)ggG>ggA	p.G219G	MYO5C_ENST00000443683.2_Silent_p.G162G|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	219	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)		CTGTGTATTTCCCAAACCGAC	0.363000													19	47					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77332334	77332334	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:77332334C>T	ENST00000393774.3	+	12	1399	c.1275C>T	c.(1273-1275)atC>atT	p.I425I		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	425										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AACACAAAATCACGATCGTGG	0.502000													6	15					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476917	101476917	+	Silent	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:101476917A>T	ENST00000341893.3	+	9	2219	c.1467A>T	c.(1465-1467)atA>atT	p.I489I	CEP97_ENST00000494050.1_Silent_p.I430I|CEP97_ENST00000327230.4_Silent_p.I489I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	489	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCCAACAATAATCAGTGCTA	0.368000													58	99					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23708982	23708982	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:23708982G>A	ENST00000290271.2	-	3	607	c.324C>T	c.(322-324)ttC>ttT	p.F108F	STC1_ENST00000524323.1_Silent_p.F39F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	108					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAATGGCGAGGAAGACCTTGG	0.527000													49	10					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762210	130762210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:130762210G>A	ENST00000392429.1	+	2	3021	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.G215S|TMEM200A_ENST00000296978.3_Missense_Mutation_p.G215S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	215						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCTTTCTCGGGTTTTCGGAG	0.483000													16	5					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271106	242271106	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:242271106T>C	ENST00000442594.2	-	9	1339	c.830A>G	c.(829-831)gAa>gGa	p.E277G	PLD5_ENST00000536534.1_Missense_Mutation_p.E369G|PLD5_ENST00000427495.1_Missense_Mutation_p.E307G	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	369						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACTAATGCTTCTCTTATTTT	0.343000													59	118					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154018294	154018294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:154018294C>T	ENST00000413259.3	-	6	717	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.E139K|MPP1_ENST00000393531.1_Missense_Mutation_p.E139K	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	139	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTTTGGTTTCTTTCTATTAA	0.378000													18	35					0	0	1	0	0
APOOL	139322	broad.mit.edu	37	X	84306435	84306435	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:84306435T>C	ENST00000373173.2	+	3	248	c.161T>C	c.(160-162)gTt>gCt	p.V54A		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	54						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTAAATATGTTGAAGAGCAG	0.443000													77	106					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3208638	3208638	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:3208638C>T	ENST00000355072.5	+	44	6148	c.6003C>T	c.(6001-6003)ttC>ttT	p.F2001F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2001					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCACCCCTTTCCGTGTGCTGG	0.527000													39	64					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341214	121341214	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:121341214A>C	ENST00000338040.4	+	3	1352	c.938A>C	c.(937-939)cAc>cCc	p.H313P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	313					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TATCTAGTGCACAATGGGCGG	0.488000													52	110					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957972	119957972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:119957972G>A	ENST00000327554.2	+	9	1480	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	339										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCTTATAAGGAAATGCAGAC	0.483000													115	145					0	0	1	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453527	22453527	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:22453527C>T	ENST00000390283.2	+	0	319																											TCTCTGGCTCCATCCTTGGGA	0.562000													169	21					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299160	184299160	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184299160T>G	ENST00000330394.2	+	15	3304	c.2852T>G	c.(2851-2853)tTt>tGt	p.F951C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTGCGGGGTTTGCATCTTTT	0.587000													59	67					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798248	75798248	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:75798248A>G	ENST00000306726.2	-	7	1248	c.736T>C	c.(736-738)Tgg>Cgg	p.W246R		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	246						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAAATTCCAAGTGGCGAGA	0.512000													8	63					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:54694330G>A	ENST00000254442.3	+	28	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_ENST00000357574.3_Silent_p.A1422A|WDR7_ENST00000589935.1_Silent_p.A32A	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617000													32	61					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962589	73962589	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73962589G>A	ENST00000373468.1	-	3	2454	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	KIAA2022_ENST00000055682.5_Silent_p.S601S			Q5QGS0	K2022_HUMAN	KIAA2022	601					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTCTTGATGGAGTCCGTGT	0.443000													16	19					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905569	54905569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:54905569G>A	ENST00000474759.1	+	18	1678	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E450K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E544K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E544K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	544	Cache.					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)		TTGCTAGTACGAAGAAGGAAA	0.443000													29	12					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128726942	128726942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:128726942G>A	ENST00000296464.3	+	10	1649	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	HSPA4L_ENST00000505726.1_Missense_Mutation_p.G387E|HSPA4L_ENST00000439123.2_Missense_Mutation_p.G444E|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G413E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	413					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTTGAAGATGGAAGTGGGTAA	0.343000													44	50					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11659920	11659920	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11659920G>A	ENST00000262442.3	+	34	6842	c.6774G>A	c.(6772-6774)ctG>ctA	p.L2258L	DNAH9_ENST00000454412.2_Silent_p.L2258L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2258	AAA 2 (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)		GGATTCCTCTGAACCCCACCA	0.577000													138	214					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40646759	40646759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:40646759C>T	ENST00000298910.7	+	11	1287	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	LRRK2_ENST00000343742.2_Missense_Mutation_p.S410L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	410					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)				ATGCATTCTTCATCAAAGGAA	0.363000													33	57					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577476	109577476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:109577476G>A	ENST00000338432.7	+	2	385	c.266G>A	c.(265-267)aGa>aAa	p.R89K	ACACB_ENST00000377854.5_Missense_Mutation_p.R89K|ACACB_ENST00000377848.3_Missense_Mutation_p.R89K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	89					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGTCGGCGGAGAAACTCCCTA	0.632000													56	76					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1826952	1826952	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:1826952G>A	ENST00000170168.4	-	2	1930	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	612						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ACTCCTCCATGGGGTCGGAGT	0.682000													7	13					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53016526	53016526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:53016526C>T	ENST00000378060.4	-	2	178	c.151G>A	c.(151-153)Gat>Aat	p.D51N	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	51	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTTTTCTGATCTCTCCAAATC	0.333000													26	46					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023351	52023351	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52023351G>A	ENST00000346477.3	-	7	1367	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Silent_p.I397I|SIGLEC6_ENST00000425629.3_Silent_p.I449I|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	449					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGTATCTTGATTTCTGAGT	0.478000													62	107					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132349375	132349375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:132349375G>A	ENST00000264990.6	-	7	1840	c.869C>T	c.(868-870)tCa>tTa	p.S290L	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.S290L|ACAD11_ENST00000481970.2_Missense_Mutation_p.S290L	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCAATATATTGAAATCAGTTC	0.323000													31	40					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799851	75799851	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:75799851C>T	ENST00000322507.8	-	63	9225	c.8916G>A	c.(8914-8916)ggG>ggA	p.G2972G	COL12A1_ENST00000483888.2_Silent_p.G2968G|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Silent_p.G1808G|COL12A1_ENST00000416123.2_Silent_p.G2896G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2972	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCCCTGCATCCCTGGTGTGC	0.627000													76	127					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241488	3241488	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3241488G>A	ENST00000217939.6	-	5	2392	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	746						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATGCTTCCAGAGTTTCAGCT	0.428000													38	53					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66386797	66386797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:66386797C>T	ENST00000409699.2	-	5	509	c.337G>A	c.(337-339)Gtt>Att	p.V113I	MEGF11_ENST00000288745.3_Missense_Mutation_p.V38I|MEGF11_ENST00000422354.1_Missense_Mutation_p.V113I|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.V113I|MEGF11_ENST00000395625.2_Missense_Mutation_p.V38I			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	113	EGF-like 1.					basolateral plasma membrane|integral to membrane		p.V38I(1)|p.V113I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCGGGGAAACGCAGCGGCCG	0.632000													2	2					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645091	58645091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:58645091G>A	ENST00000313426.1	+	3	368	c.62G>A	c.(61-63)aGg>aAg	p.R21K		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	21										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			CACAGCCACAGGCTGAAGGTG	0.547000													57	71					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037355	148037355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:148037355G>A	ENST00000370460.2	+	11	2259	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	AFF2_ENST00000286437.5_Missense_Mutation_p.E235K|AFF2_ENST00000342251.3_Missense_Mutation_p.E561K|AFF2_ENST00000370457.5_Missense_Mutation_p.E561K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	594					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCATTAGGGAGAAAGCCCG	0.473000													96	124					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063412	58063412	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:58063412G>T	ENST00000339762.6	-	1	203	c.204C>A	c.(202-204)aaC>aaA	p.N68K	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACCTAAAAAGTTGGTAACTT	0.383000													18	27					3.51602e-12	3.5386e-12	1	1	0
GRID2	2895	broad.mit.edu	37	4	94376999	94376999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:94376999C>T	ENST00000282020.4	+	11	1990	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F	GRID2_ENST00000510992.1_Missense_Mutation_p.L483F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	578					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGCACAGTCCTTCTGGTGGG	0.478000													104	132					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50146156	50146156	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50146156C>T	ENST00000376025.2	-	0	1270							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGCATGTTTCCTTCTACCCA	0.468000													12	17					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343365	38343365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:38343365G>A	ENST00000374618.3	+	5	491	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	ZNF33A_ENST00000469037.2_Missense_Mutation_p.E105K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E111K|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E104K|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E104K	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	104						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACATTTGTGGGAAGTTGTATT	0.348000													56	63					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555371	45555371	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:45555371G>A	ENST00000347644.3	+	5	440	c.375G>A	c.(373-375)aaG>aaA	p.K125K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	125					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.K125N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTTTGAAAAAGCTCCTGGGCA	0.458000													23	36					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872723	55872723	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55872723T>A	ENST00000313503.1	+	1	205	c.205T>A	c.(205-207)Ttt>Att	p.F69I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCACCTGTCATTTATTGACCT	0.428000										HNSCC(53;0.14)			110	281					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594070	9594070	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:9594070G>A	ENST00000287585.6	-	2	579	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	98						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					AGAGCAGCACGAAGAAGGCGG	0.637000													33	5					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39342193	39342193	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:39342193C>A	ENST00000263408.4	-	2	278	c.183_splice	c.e2+1	p.M61_splice	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	61	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAACACTTACCATTTGTCTGA	0.493000													63	81					1.17597e-53	1.19338e-53	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:71276950C>T	ENST00000398531.1	+	1	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	106	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCTTGTGGGGGC	0.677000													103	116					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642283	196642283	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:196642283G>A	ENST00000367429.4	+	2	474	c.234G>A	c.(232-234)agG>agA	p.R78R	CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Silent_p.R78R|CFH_ENST00000439155.2_Silent_p.R78R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	78	Sushi 1.		R -> G (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCCATTAAGGAAATGTCAGA	0.333000													112	79					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446994	197446994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:197446994G>A	ENST00000367400.3	+	12	4341	c.4206G>A	c.(4204-4206)atG>atA	p.M1402I	CRB1_ENST00000367399.2_Missense_Mutation_p.M1290I|CRB1_ENST00000535699.1_Missense_Mutation_p.M1378I|CRB1_ENST00000544212.1_Missense_Mutation_p.M883I|CRB1_ENST00000538660.1_Missense_Mutation_p.M866I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1402					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCCTGCAATGGAGAGACTGA	0.522000													45	175					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226094	24226094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:24226094C>T	ENST00000303531.7	+	17	2131	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	661	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)	GAAGGATTTTCCTTTGTTAAC	0.428000													41	68					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857391	140857391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140857391C>T	ENST00000308177.3	+	1	1812	c.1708C>T	c.(1708-1710)Cct>Tct	p.P570S	PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCTATATCCTCGGCCAGG	0.597000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	85					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	10					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28830607	28830607	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28830607C>T	ENST00000399613.1	+	6	642	c.579C>T	c.(577-579)atC>atT	p.I193I	PAN3_ENST00000380958.3_Silent_p.I393I|PAN3_ENST00000282391.5_Silent_p.I81I|PAN3_ENST00000483842.1_3'UTR			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	393	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTCAGGTGATCCAAAAGGAAA	0.423000													51	54					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155475	228155475	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228155475A>G	ENST00000396578.3	+	37	3245	c.3083A>G	c.(3082-3084)aAa>aGa	p.K1028R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1028	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCTAAAGGAAAAAGGGGAACT	0.428000													27	25					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657000													36	41					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111893168	111893168	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:111893168T>C	ENST00000277900.8	+	14	2182	c.1817T>C	c.(1816-1818)gTt>gCt	p.V606A	ADD3_ENST00000360162.3_Missense_Mutation_p.V606A|ADD3_ENST00000356080.4_Missense_Mutation_p.V638A	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	638						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATGCATGATGTTGAAGATGAG	0.423000													114	27					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130069878	130069878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:130069878C>T	ENST00000278742.5	+	16	2258	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	614					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAGGCTCGTGTTGTTGG	0.612000													94	117					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721601	17721601	+	RNA	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:17721601A>C	ENST00000434762.2	+	0	1543							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGAGGGCAAAAAGGTCTGCTT	0.493000													80	132					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889910	55889910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55889910C>T	ENST00000313472.3	+	1	62	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGTCAGACTCTGAAGAGGTC	0.443000													121	163					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290665	31290665	+	RNA	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:31290665A>G	ENST00000554665.1	-	0	208																											GAAACCTCGGAAAGTGGTGTT	0.483000													19	32					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22020245	22020245	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:22020245G>A	ENST00000521315.1	+	2	233	c.201_splice	c.e2+1	p.M67_splice	SFTPC_ENST00000318561.3_Splice_Site_p.M67_splice|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000522109.1_Splice_Site_p.M67_splice|SFTPC_ENST00000437090.2_Splice_Site_p.M67_splice|SFTPC_ENST00000520605.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	67				TEM -> FPQ (in Ref. 4; AAB60332).	respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACACGGAGATGGTGAGAGGTG	0.592000													70	21					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790880	110790880	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:110790880T>C	ENST00000327908.3	+	4	1190	c.426T>C	c.(424-426)gaT>gaC	p.D142D	LRIT3_ENST00000409621.2_Silent_p.D142D|LRIT3_ENST00000594814.1_Silent_p.D325D|LRIT3_ENST00000379920.3_Silent_p.D280D			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	280						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACGCTGGGGATTACAAATGTA	0.438000													61	69					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123184124	123184124	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:123184124C>A	ENST00000264501.4	+	43	7341	c.6968C>A	c.(6967-6969)tCc>tAc	p.S2323Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2323Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2323Y			Q2LD37	K1109_HUMAN	KIAA1109	2323					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGTAGCTCCCTAACGAGA	0.438000													22	30					1.28384e-07	1.28854e-07	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113131020	113131020	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:113131020C>T	ENST00000316851.7	+	15	2076	c.2076C>T	c.(2074-2076)acC>acT	p.T692T	NCAM1_ENST00000533760.1_Silent_p.T574T|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	702	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGTTCAGGACCTCGGCCCAGC	0.527000													26	60					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4557778	4557778	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:4557778A>G	ENST00000570646.1	+	4	874	c.269A>G	c.(268-270)gAc>gGc	p.D90G	HMOX2_ENST00000414777.1_Missense_Mutation_p.D90G|HMOX2_ENST00000219700.6_Missense_Mutation_p.D90G|HMOX2_ENST00000575120.1_Missense_Mutation_p.D61G|HMOX2_ENST00000458134.3_Missense_Mutation_p.D90G|HMOX2_ENST00000398595.3_Missense_Mutation_p.D90G|HMOX2_ENST00000406590.2_Missense_Mutation_p.D90G	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	90					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CGCAACAAGGACCATCCAGCC	0.562000													40	74					0	0	1	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923946	14923946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:14923946C>T	ENST00000539745.1	-	1	119	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	25					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TGGATATTGTCCCGCAGCACC	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	54					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045673	53045673	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:53045673C>T	ENST00000276480.7	-	21	3071	c.2388G>A	c.(2386-2388)agG>agA	p.R796R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	796						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)				CACCACCTTTCCTTGCACGAG	0.478000													65	164					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102394	66102394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:66102394G>A	ENST00000349533.6	+	20	3379	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	LEPR_ENST00000406510.3_Missense_Mutation_p.G132E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1065					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATTGGAGGGAAATTTCCCT	0.373000													77	133					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181																		p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000													7	52					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236157083	236157083	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:236157083G>A	ENST00000264187.6	-	13	2699	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	NID1_ENST00000366595.3_Silent_p.L740L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	873	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGAACGAACAGCCCCGGAGGA	0.662000													56	42					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72366762	72366762	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72366762T>G	ENST00000335666.4	+	3	509	c.461T>G	c.(460-462)gTg>gGg	p.V154G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	154						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCCCCGTGTGTGGCTGGCGTC	0.647000													56	77					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742432	123742432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:123742432G>A	ENST00000223642.1	-	28	3616	c.3587C>T	c.(3586-3588)tCc>tTc	p.S1196F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1196					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCTCCCAGGGAAAGAGCATA	0.403000													62	15					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632654	48632654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48632654C>T	ENST00000006658.6	+	16	2339	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	SPATA20_ENST00000393244.3_Missense_Mutation_p.S680F|SPATA20_ENST00000356488.4_Missense_Mutation_p.S724F|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	724					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCGTCCACTCTGTCTACATT	0.587000													34	45					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451472	138451472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:138451472G>A	ENST00000344876.4	-	1	2157	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P371S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P591S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	591	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCCCTTTGGGAATGGTGATT	0.458000													148	247					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993060	117993060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:117993060C>T	ENST00000425217.1	-	9	1399	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	KSR2_ENST00000302438.5_Missense_Mutation_p.D175N|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.D478N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	478					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTTGATGTCACACGGAACG	0.483000													34	31					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99459265	99459265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:99459265C>T	ENST00000268035.6	+	9	2512	c.1901C>T	c.(1900-1902)cCc>cTc	p.P634L	IGF1R_ENST00000558762.1_Missense_Mutation_p.P634L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	634	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGAACCCTCCCTCTCTGCCC	0.517000													102	83					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477210	110477210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:110477210G>A	ENST00000378402.5	+	49	8253	c.8149G>A	c.(8149-8151)Gga>Aga	p.G2717R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2717					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)			TGATGAACTGGGAATGGGGTC	0.473000										HNSCC(38;0.096)			68	212					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620295	203620295	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:203620295T>G	ENST00000303116.6	+	5	1005	c.263T>G	c.(262-264)aTt>aGt	p.I88S	FAM117B_ENST00000392238.2_Missense_Mutation_p.I332S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	332	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATTCCTGTAATTCCCATCACC	0.413000													82	126					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143509	161143509	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:161143509G>C	ENST00000348849.3	-	7	1157	c.727C>G	c.(727-729)Cca>Gca	p.P243A	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P210A|RBMS1_ENST00000409972.1_Missense_Mutation_p.P210A|RBMS1_ENST00000392753.3_Missense_Mutation_p.P243A|RBMS1_ENST00000409075.1_Missense_Mutation_p.P210A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	243					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CTATGCCATGGTCTTCCATTA	0.453000													115	157					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182069	34182069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:34182069C>T	ENST00000373381.4	-	20	3210	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	972	CUB 6.					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)				TGGCCACTTTCCAGGTGGAAG	0.577000													26	33					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793859	140793859	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140793859T>A	ENST00000398610.2	+	1	1117	c.1117T>A	c.(1117-1119)Tta>Ata	p.L373I	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAGCCCTTTTAAATGTGCA	0.398000													30	34					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66986991	66986991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:66986991C>T	ENST00000340001.4	-	29	4035	c.3824G>A	c.(3823-3825)cGa>cAa	p.R1275Q	ABCA9_ENST00000453985.2_Missense_Mutation_p.R1237Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1275Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1275					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATCAAAGTCTCGCACAGCCAT	0.388000													45	62					0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370912	101370912	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:101370912G>A	ENST00000370495.4	-	4	817	c.789C>T	c.(787-789)tcC>tcT	p.S263S	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	263					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AGAGGACGTGGGAGCTTGGGT	0.552000													35	10					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146416	70146416	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:70146416C>T	ENST00000335568.5	+	1	200	c.198C>T	c.(196-198)ccC>ccT	p.P66P	UGT2B28_ENST00000511240.1_Silent_p.P66P	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	66					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTTGATCCCAATGACGCAT	0.388000													99	121					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197639610	197639610	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:197639610A>G	ENST00000265239.6	-	9	1323	c.899T>C	c.(898-900)aTg>aCg	p.M300T	IQCG_ENST00000455191.1_Missense_Mutation_p.M300T	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	300										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTCGGTTTTCATCCTGAGTTT	0.483000													126	177					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000													10	16					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072478	31072478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31072478C>A	ENST00000538906.1	-	3	2555	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	ZNF668_ENST00000535577.1_Nonsense_Mutation_p.E591*|ZNF668_ENST00000300849.4_Nonsense_Mutation_p.E591*|ZNF668_ENST00000394983.2_Nonsense_Mutation_p.E591*|ZNF668_ENST00000539836.3_Nonsense_Mutation_p.E614*|ZNF668_ENST00000426488.2_Nonsense_Mutation_p.E614*	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGGTGCGTTCATGCTTGCGC	0.647000													76	94					1.26005e-42	1.27752e-42	1	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447847	24447847	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:24447847G>A	ENST00000270800.1	-	7	1211	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	391						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGGCTTGAGGGGCATAGGAGG	0.587000													70	108					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591812	60591812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:60591812G>A	ENST00000406854.1	+	9	3477	c.2923G>A	c.(2923-2925)Gta>Ata	p.V975I	PCNXL4_ENST00000406949.1_Missense_Mutation_p.V741I|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V975I|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V741I|PCNXL4_ENST00000535349.1_Missense_Mutation_p.V182I					pecanex-like 4 (Drosophila)									p.V741L(1)									TGTTCATACAGTAATGACTTG	0.363000													14	11					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166894560C>T	ENST00000423058.2	-	15	2689	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G863E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G880E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G891E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTAAATTTCCCAGAGCCCC	0.443000													45	68					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054000	50054000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50054000C>T	ENST00000376042.1	+	6	3129	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S944F|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	944					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.S944Y(4)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGGAGTTGTCCTTCAAGGAG	0.463000													72	103					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514186	69514186	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:69514186G>A	ENST00000294312.3	-	3	1260	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	165					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCATGGGCAGGAAATGAGAGA	0.587000													66	117					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345100	5345100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5345100C>T	ENST00000328813.2	-	1	482	c.428G>A	c.(427-429)gGa>gAa	p.G143E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G143L(1)|p.G143V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCCCACTCCTAACGCTAT	0.413000													84	101					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892933	166892933	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166892933C>T	ENST00000423058.2	-	16	3071	c.3054G>A	c.(3052-3054)agG>agA	p.R1018R	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R990R|SCN1A_ENST00000375405.3_Silent_p.R1007R|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.R1018R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1018						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTTGTGCATCCTATCCACAG	0.348000													26	28					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211280701	211280701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:211280701C>T	ENST00000367007.4	-	2	267	c.98G>A	c.(97-99)gGg>gAg	p.G33E	KCNH1_ENST00000271751.4_Missense_Mutation_p.G33E	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	33	PAS.				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)		CTGAGCATTCCCCAACACAAA	0.393000													77	75					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78408167	78408167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:78408167G>A	ENST00000330010.8	+	12	1786	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	NEXN_ENST00000457030.1_Missense_Mutation_p.E547K|NEXN_ENST00000334785.7_Missense_Mutation_p.E561K|NEXN_ENST00000480732.1_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	561	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGAGGAGGAGGAAGAAGGTAG	0.388000													23	66					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156315	150156315	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150156315G>A	ENST00000325307.7	+	5	627	c.531G>A	c.(529-531)cgG>cgA	p.R177R	HMGB3_ENST00000448905.2_Silent_p.R177R	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	177					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGCCCGGAAAAaggtgg	0.448000													48	57					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325069	31325069	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:31325069T>C	ENST00000269197.5	+	12	5257	c.5257T>C	c.(5257-5259)Tta>Cta	p.L1753L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1753					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						GGTGACGCAGTTACTACAGGG	0.532000													31	26					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563527	228563527	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228563527G>A	ENST00000258403.3	-	3	975	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.L298L	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	302					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TAATCCCACAGGATTTGAACA	0.443000													35	54					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91572281	91572281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:91572281C>T	ENST00000551354.1	-	2	253	c.49G>A	c.(49-51)Gga>Aga	p.G17R	DCN_ENST00000420120.2_Missense_Mutation_p.G17R|DCN_ENST00000303320.3_Missense_Mutation_p.G17R|DCN_ENST00000550099.1_Missense_Mutation_p.G17R|DCN_ENST00000052754.5_Missense_Mutation_p.G17R|DCN_ENST00000393155.1_Missense_Mutation_p.G17R|DCN_ENST00000441303.2_Missense_Mutation_p.G17R|DCN_ENST00000456569.2_Missense_Mutation_p.G17R|DCN_ENST00000552962.1_Missense_Mutation_p.G17R|DCN_ENST00000425043.1_Missense_Mutation_p.G17R|DCN_ENST00000547568.2_Missense_Mutation_p.G17R|DCN_ENST00000546745.1_Missense_Mutation_p.G17R|DCN_ENST00000228329.5_Missense_Mutation_p.G17R|DCN_ENST00000546370.1_Missense_Mutation_p.G17R			P07585	PGS2_HUMAN	decorin	17					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAAACGGTCCAGCCCAGGAA	0.473000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	56					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273445	125273445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:125273445G>A	ENST00000335302.5	+	1	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GCATATGACCGATATGTTGCC	0.408000													34	11					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562821	21562821	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:21562821G>A	ENST00000382592.4	-	4	1503	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	LATS2_ENST00000542899.1_Silent_p.S366S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	366					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTGCTGGACGGAGGTGCTGC	0.721000													51	54					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110900	106110900	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:106110900G>A	ENST00000390545.2	-	0	227																											TCTGGGTGCCGAAGTTGCTGG	0.617000													66	256					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206728	58206728	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:58206728C>T	ENST00000377918.3	+	1	74	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	16					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTGCCCTCACTCTCAAGA	0.612000													16	15					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087302	109087302	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:109087302A>T	ENST00000309863.6	+	6	2231	c.1517A>T	c.(1516-1518)gAa>gTa	p.E506V		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	506					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAAGAGTTCGAATCAATGAAG	0.383000													70	102					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256182	146256182	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:146256182T>C	ENST00000367503.3	-	13	3249	c.2851A>G	c.(2851-2853)Aag>Gag	p.K951E	SHPRH_ENST00000367505.2_Missense_Mutation_p.K951E|SHPRH_ENST00000275233.7_Missense_Mutation_p.K951E|SHPRH_ENST00000438092.2_Missense_Mutation_p.K951E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	951					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCAGAAATCTTCCTGAGTTTT	0.512000													43	17					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834438	125834438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:125834438C>T	ENST00000299308.3	+	2	501	c.493C>T	c.(493-495)Cct>Tct	p.P165S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGCTTTCCCTGAGGCCAG	0.582000													40	95					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524108	187524108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:187524108C>T	ENST00000441802.2	-	20	11640	c.11431G>A	c.(11431-11433)Gag>Aag	p.E3811K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3811	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTTCTCCTCCCAGGGATCA	0.507000										HNSCC(5;0.00058)			67	95					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585756	7585756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:7585756G>A	ENST00000379802.3	+	24	8602	c.8261G>A	c.(8260-8262)gGg>gAg	p.G2754E	DSP_ENST00000418664.2_Missense_Mutation_p.G2155E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2754	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCCGGAAGGGGTTCATAGAT	0.542000													53	109					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50521197	50521197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:50521197G>A	ENST00000267842.5	+	8	1745	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	SLC27A2_ENST00000544960.1_Missense_Mutation_p.D270N|SLC27A2_ENST00000380902.4_Missense_Mutation_p.D452N	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	505					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGACTGGTTGATTTTGTCCA	0.428000													38	28					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56073659	56073659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:56073659C>T	ENST00000429804.2	-	10	2349	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	CTCFL_ENST00000243914.3_Missense_Mutation_p.E647K|CTCFL_ENST00000423479.2_Missense_Mutation_p.E647K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E647K	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	647					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCATCCACTTCCTCTTTGACT	0.527000													91	127					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518830	73518830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:73518830C>T	ENST00000545030.1	-	2	1599	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	EGR4_ENST00000436467.2_Missense_Mutation_p.G406S	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	405						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTTTGTGGCCCGTGTGGATG	0.672000													31	77					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:47365968G>A	ENST00000505841.1	-	0	141					NR_002788.2																						GGGGGTGCAGGAAACAGGTGC	0.488000													46	66					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360349	179360349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179360349C>T	ENST00000234453.4	+	5	979	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	193						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCATCCGGATCCCTTAGTTTC	0.418000													116	153					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743392	51743392	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:51743392T>G	ENST00000395052.3	+	2	627	c.393T>G	c.(391-393)gaT>gaG	p.D131E	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.D131E	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	131					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCATGGTGATGCTCCCACTG	0.612000													11	5					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698856	113698856	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:113698856C>T	ENST00000512097.3	+	2	1402	c.384C>T	c.(382-384)ttC>ttT	p.F128F	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.F128F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	128						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCGCCCTGTTCGAAAAGCGCA	0.627000													27	22					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531060	42531060	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:42531060G>A	ENST00000282030.5	+	4	2051	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	585						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGTCAAAAAGAAGCGGGGAC	0.537000									Schinzel-Giedion syndrome				75	105					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325315	57325315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:57325315G>A	ENST00000326441.9	-	10	4858	c.4495C>T	c.(4495-4497)Cag>Tag	p.Q1499*	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Q1499*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Q1375*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Q1373*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1499	Glu-rich.				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)		TCTTCTACCTGAATCTCTTGA	0.483000													84	131					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834949	61834949	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:61834949G>T	ENST00000280772.1	-	37	5881	c.5690C>A	c.(5689-5691)tCc>tAc	p.S1897Y	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1897	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCCTGACTGGAAGATAAAGA	0.448000													26	14					3.90053e-15	3.93279e-15	1	1	0
PSMG1	8624	broad.mit.edu	37	21	40551856	40551856	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:40551856C>T	ENST00000331573.3	-	4	915	c.450G>A	c.(448-450)ctG>ctA	p.L150L	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	150					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TTACCTTTTCCAGCCACTGAT	0.368000													26	46					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835398	172835398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172835398C>T	ENST00000351008.3	-	2	307	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	42					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTGACATTTCCAGGATGTTA	0.378000													135	228					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631620	141631620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141631620G>A	ENST00000546910.1	-	6	548	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	CLEC5A_ENST00000439991.1_Missense_Mutation_p.L14F|CLEC5A_ENST00000551012.2_Missense_Mutation_p.L95F|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.L95F	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	118	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.L118V(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTCCTGAAGAAACTTCTGG	0.373000													42	54					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126136	8126136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:8126136C>T	ENST00000223145.5	+	8	2169	c.1612C>T	c.(1612-1614)Cac>Tac	p.H538Y		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	538										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGGTGAGGACCACATCTCTGC	0.542000													103	135					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538735	4538735	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:4538735G>A	ENST00000306390.6	-	2	721	c.261C>T	c.(259-261)ctC>ctT	p.L87L	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	87						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTGGAGGAGGTTGGCTG	0.627000													40	38					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422418	26422418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:26422418G>A	ENST00000335473.7	+	43	6728	c.6478G>A	c.(6478-6480)Gaa>Aaa	p.E2160K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2161K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2160K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2160						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGATAAACGAAGAGGCTGG	0.502000													261	33					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515278	140515278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140515278G>A	ENST00000231134.5	+	1	479	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTATATGAAAAACTAGA	0.473000													43	95					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2936599	2936599	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:2936599C>T	ENST00000381130.2	+	5	789	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	263						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTTTCTCCTCTTTTTTTCCT	0.393000													52	81					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68046546	68046546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:68046546G>A	ENST00000329153.5	+	22	3268	c.3136G>A	c.(3136-3138)Gat>Aat	p.D1046N	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1046	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCACGGACGATCCCTCGGG	0.587000													7	25					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395113	154395113	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:154395113A>C	ENST00000435029.4	+	1	1854	c.1694A>C	c.(1693-1695)gAa>gCa	p.E565A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	565					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAAATCTAGAATTAGAAGTC	0.428000													41	40					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666801	77666801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:77666801C>T	ENST00000461745.1	+	22	4331	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144F|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1144					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)		CCTGCTATCTCCTTTGGACAG	0.512000													57	84					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410242	67410242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:67410242C>T	ENST00000255082.3	-	8	1083	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	ACY3_ENST00000529256.1_Missense_Mutation_p.V184M	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	305					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	ATGGCAGGCACGGTGAATGTG	0.577000													89	113					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232210	33232210	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33232210G>C	ENST00000445902.2	-	14	1683	c.1465C>G	c.(1465-1467)Cag>Gag	p.Q489E	VPS52_ENST00000436044.2_Missense_Mutation_p.Q364E|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	489					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CGGACGCTCTGAACATTCATC	0.552000													91	211					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267943	129267943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:129267943C>T	ENST00000324382.2	+	3	483	c.478C>T	c.(478-480)Cca>Tca	p.P160S	H1FOO_ENST00000503977.1_Missense_Mutation_p.P21S	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	160					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CCCCAAGAAACCAAGTGAGGC	0.617000													5	11					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130487	71130487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:71130487G>A	ENST00000333538.5	+	7	1806	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	391						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCAACATTGGCTTCTACACC	0.537000													66	69					0	0	1	0	0
C17orf82	388407	broad.mit.edu	37	17	59489531	59489531	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:59489531C>A	ENST00000335108.2	+	1	420	c.195C>A	c.(193-195)gaC>gaA	p.D65E		NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	65										cervix(1)|lung(1)	2						GCTCGCAGGACAGGGCGGCAG	0.746000											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					8.12818e-05	8.15047e-05	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56969613	56969613	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56969613A>T	ENST00000591790.1	-	4	1592	c.164T>A	c.(163-165)cTt>cAt	p.L55H	ZNF667_ENST00000292069.6_Missense_Mutation_p.L55H|ZNF667_ENST00000342634.3_Missense_Mutation_p.L148H|ZNF667_ENST00000504904.3_Missense_Mutation_p.L55H			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCGAAAGGAAAGACCTGTACG	0.498000													37	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498297	179498297	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179498297G>A	ENST00000589042.1	-	232	43013	c.42789C>T	c.(42787-42789)ttC>ttT	p.F14263F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.F5323F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.F5390F|TTN_ENST00000342992.6_Silent_p.F11695F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.F5198F|TTN_ENST00000591111.1_Silent_p.F12622F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12622	Fibronectin type-III 3.						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)			CACCATCTTTGAACCATTTCA	0.408000													25	42					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998716	29998716	+	Silent	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:29998716T>A	ENST00000308893.4	+	16	4166	c.3123T>A	c.(3121-3123)gtT>gtA	p.V1041V	TAOK2_ENST00000416441.2_Silent_p.V868V|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.V928V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1041	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCATGGGTGTTCCCCTGGGCC	0.687000													14	16					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077078	144077078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:144077078C>T	ENST00000056217.5	+	15	4897	c.4723C>T	c.(4723-4725)Cgt>Tgt	p.R1575C	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.R497C	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1575					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCAGAGGTCCGTGCACAGAA	0.577000													77	119					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971083	54971083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:54971083G>A	ENST00000243052.3	+	15	2018	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	PDE1B_ENST00000538346.1_Missense_Mutation_p.E487K|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.E508K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	528					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						TGCCGAAGATGAACACAACCA	0.562000													108	170					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49099919	49099919	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:49099919C>T	ENST00000376227.3	+	6	875	c.705C>T	c.(703-705)ctC>ctT	p.L235L	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	235										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATCCCGCCTCCCACCCCAGG	0.677000													14	14					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178734	96178734	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:96178734C>T	ENST00000402399.1	-	2	250		c.e2-1		TCL1A_ENST00000556450.1_Splice_Site|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Splice_Site|TCL1A_ENST00000554012.1_Splice_Site	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A						multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TATCCTTTATCTGAGGAGAAG	0.577000			T	TRA@	T-CLL								35	34					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:82545171C>T	ENST00000423517.2	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(2)		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						GACATAATTTCGTGGAGTATG	0.408000													15	29					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465627	8465627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:8465627C>T	ENST00000381196.4	-	29	4096	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	PTPRD_ENST00000540109.1_Missense_Mutation_p.E1185K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1172K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E771K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1163K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E774K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1185K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E774K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E764K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E771K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E764K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1185					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATTCAACTTCTCTCCCATAA	0.418000										TSP Lung(15;0.13)			45	17					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369420	86369420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:86369420C>T	ENST00000400286.2	-	2	1822	c.1224G>A	c.(1222-1224)atG>atA	p.M408I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	408						integral to membrane		p.M408I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCGTTAGGTTCATAAACGATC	0.343000													19	28					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772810	140772810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140772810G>A	ENST00000398604.2	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTAACGAAATCGCGGT	0.443000													41	65					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389635	20389635	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20389635G>A	ENST00000315915.4	+	1	895	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACACTAAGGAATAGGGATA	0.398000													65	174					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886412	24886412	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24886412G>A	ENST00000382554.3	+	9	5775	c.5457G>A	c.(5455-5457)cgG>cgA	p.R1819R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1819					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTTTCAAGCGGGAGAGCCAGG	0.592000													39	76					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665813	20665813	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20665813T>C	ENST00000357366.3	+	1	319	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	107					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)		CTTCTCCTTCTTGGAGATATG	0.537000													68	88					0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9633421	9633421	+	Silent	SNP	T	T	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:9633421T>C	ENST00000302692.6	+	5	643	c.433T>C	c.(433-435)Tta>Cta	p.L145L		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	145					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CACAAATTCCTTAATGAATCC	0.284000													26	24					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973718	10973718	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:10973718C>T	ENST00000304623.8	-	22	3714	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q	CTNND2_ENST00000511377.1_Silent_p.Q1084Q|CTNND2_ENST00000359640.2_Silent_p.Q1117Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.Q742Q|CTNND2_ENST00000503622.1_Silent_p.Q838Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1175					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATGGTGGACCTGGTCCTCGA	0.552000													73	88					0	0	1	0	0
C5orf58	133874	broad.mit.edu	37	5	169661144	169661144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:169661144G>A	ENST00000521850.1	+	1	1694	c.5G>A	c.(4-6)aGa>aAa	p.R2K	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.R2K			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	2										large_intestine(1)|lung(4)|urinary_tract(1)	6						TCTGAAATGAGAGAAATTGCA	0.403000													27	32					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712504	41712504	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:41712504C>T	ENST00000373025.3	-	2	164	c.102G>A	c.(100-102)aaG>aaA	p.K34K	PGC_ENST00000425343.2_Silent_p.K34K	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	34					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)			AGCCCTTCTCCTTCATGGTCT	0.542000													24	72					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71895921	71895921	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:71895921T>G	ENST00000373545.3	-	6	1055	c.618_splice	c.e6+1	p.K206_splice	PHKA1_ENST00000541944.1_Splice_Site_p.K206_splice|PHKA1_ENST00000373539.3_Splice_Site_p.K206_splice|PHKA1_ENST00000339490.3_Splice_Site_p.K206_splice|PHKA1_ENST00000373542.4_Splice_Site_p.K206_splice			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	206					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAAAATTACCTTTGCCATTCC	0.408000													59	86					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61238962	61238962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:61238962G>A	ENST00000316752.6	-	2	325	c.64C>T	c.(64-66)Cca>Tca	p.P22S	PUS10_ENST00000398658.2_Missense_Mutation_p.P22S|PUS10_ENST00000407787.1_Missense_Mutation_p.P22S	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	22					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATACATCTTGGACAAGTACCA	0.328000													29	48					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12989926	12989926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:12989926C>T	ENST00000399002.2	+	1	285	c.11C>T	c.(10-12)cCt>cTt	p.P4L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.P4L|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	4					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGGCTAACCCTGGAGGTGGT	0.488000													73	106					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57837893	57837893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57837893G>A	ENST00000281282.5	+	17	3682	c.3604G>A	c.(3604-3606)Gac>Aac	p.D1202N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1202						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGATCAGAAGGACCAGGTGGG	0.582000													11	16					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211104	55211104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:55211104C>T	ENST00000275493.2	+	3	524	c.347C>T	c.(346-348)tCc>tTc	p.S116F	EGFR_ENST00000420316.2_Missense_Mutation_p.S116F|EGFR_ENST00000442591.1_Missense_Mutation_p.S116F|EGFR_ENST00000344576.2_Missense_Mutation_p.S116F|EGFR_ENST00000455089.1_Missense_Mutation_p.S116F|EGFR_ENST00000342916.3_Missense_Mutation_p.S116F|EGFR_ENST00000454757.2_Missense_Mutation_p.S63F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	116					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGAAAATTCCTATGCCTTA	0.463000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			57	73					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298450	10298450	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10298450C>T	ENST00000403437.2	-	34	5056	c.4962_splice	c.e34+1	p.K1654_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1654					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCCGTTTACCTTCAGGATTC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				139	199					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170470977	170470977	+	Silent	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:170470977A>T	ENST00000260970.3	+	8	601	c.381A>T	c.(379-381)acA>acT	p.T127T	PPIG_ENST00000409714.3_Silent_p.T112T|PPIG_ENST00000462903.1_Silent_p.T127T|PPIG_ENST00000448752.2_Silent_p.T127T	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	127	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CCAAAAGAACAACGAAACCAA	0.239000													33	52					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781843	159781843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:159781843C>T	ENST00000393975.3	-	2	314	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	59	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCCATTCGTCCCATCAT	0.662000													25	20					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222238	56222238	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:56222238G>C	ENST00000357606.3	-	3	494	c.205C>G	c.(205-207)Cat>Gat	p.H69D	DNAJC14_ENST00000317287.5_Missense_Mutation_p.H69D|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H69D			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	69					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCAACCAATGGGCTGGGTTT	0.577000													73	123					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914511	213914511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:213914511G>A	ENST00000457361.1	-	5	668	c.500C>T	c.(499-501)cCg>cTg	p.P167L	IKZF2_ENST00000413091.3_Missense_Mutation_p.P167L|IKZF2_ENST00000374319.4_Missense_Mutation_p.P141L|IKZF2_ENST00000434687.1_Missense_Mutation_p.P167L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.P173L|IKZF2_ENST00000421754.2_Missense_Mutation_p.P141L|IKZF2_ENST00000451136.2_Missense_Mutation_p.P141L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACATTTGAACGGCTTCTCTCC	0.502000													31	40					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119589	3119589	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:3119589C>T	ENST00000304094.1	+	1	675	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCACAGTCTTCCAGGTTCCTT	0.478000													119	152					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802584	26802584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:26802584C>T	ENST00000376236.4	+	8	1263	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	270					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						ATTTAAAAACCCCCAGGTAAG	0.348000													42	83					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148406836	148406836	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:148406836G>A	ENST00000324300.5	+	2	518	c.3G>A	c.(1-3)atG>atA	p.M1I	EDNRA_ENST00000339690.5_Start_Codon_SNP_p.M1I|EDNRA_ENST00000506066.1_Start_Codon_SNP_p.M1I|EDNRA_ENST00000358556.4_Start_Codon_SNP_p.M1I|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	1					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCTCAAGATGGAAACCCTTT	0.388000													64	89					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367230	234367230	+	Silent	SNP	C	C	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:234367230C>A	ENST00000366618.3	+	3	496	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SLC35F3_ENST00000366617.3_Silent_p.G48G	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	48					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGAGGCCGGCGGGAGAGCGA	0.746000													51	85					8.28887e-21	8.36512e-21	1	1	0
OR7A5	26659	broad.mit.edu	37	19	14938507	14938507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:14938507G>A	ENST00000322301.3	-	2	634	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonsense_Mutation_p.Q183*			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGGATGACCTGATTAAGTTCA	0.443000													53	68					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:50985602G>A	ENST00000442544.2	+	24	4009	c.3392_splice	c.e24-1	p.K1131_splice	DCC_ENST00000581580.1_Splice_Site_p.K766_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1131					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCCATAGGAAACGGGCCA	0.443000													21	26					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916455	28916455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:28916455G>A	ENST00000257192.4	+	9	1356	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	382	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTAATTGAAGGCCCAGTGTT	0.368000													39	49					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040339	103040339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:103040339G>A	ENST00000264260.2	+	4	728	c.139G>A	c.(139-141)Gat>Aat	p.D47N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	47					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTTATTTTGTGATTTACCAGA	0.398000													26	33					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250914	142250914	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:142250914C>T	ENST00000390360.3	-	0	153																											TGTCTCATATCCTGGGTACAT	0.498000													33	59					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657657	52657657	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:52657657C>T	ENST00000334575.5	-	6	698	c.543G>A	c.(541-543)ctG>ctA	p.L181L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	181	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGGTCACCTTCAGCAGAGGGA	0.542000													114	269					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187673	100187673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:100187673C>T	ENST00000241071.6	+	2	435	c.113C>T	c.(112-114)tCc>tTc	p.S38F	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.S76F|FBXO24_ENST00000468962.1_Missense_Mutation_p.S26F|FBXO24_ENST00000360609.2_Missense_Mutation_p.S38F|FBXO24_ENST00000465843.1_Missense_Mutation_p.S38F|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	38	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AATCCGATTTCCATCCAGTTG	0.567000													71	89					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625271	55625271	+	Missense_Mutation	SNP	C	C	T	rs142884641		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55625271C>T	ENST00000370830.3	-	5	1786	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R363Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	363					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)			TCCCAGATCCCGGAAGCTCAC	0.363000													43	98					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36608580	36608580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:36608580C>T	ENST00000265113.4	+	2	531	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC1A3_ENST00000381918.3_Nonsense_Mutation_p.Q19*|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	19					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGAGAGATTCCAGCAGGGAGT	0.448000													74	106					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203142701	203142701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:203142701C>T	ENST00000264279.5	+	3	377	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	51					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGAGAAATTTCAGGATACAGC	0.308000													54	100					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769966	112769966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:112769966G>A	ENST00000390666.3	-	1	762	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	191	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)		GGCTGGTAGGGAATGCCCTGC	0.577000													29	34					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118892684	118892684	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118892684G>A	ENST00000343905.3	+	1	109	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	18																	CTCTCGCGCCGACCTCGCAGA	0.741000													11	24					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283787	151283787	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:151283787C>T	ENST00000509345.2	-	0	549																		p.D76N(1)									AGAGTGAAATCGATGGCAGTG	0.612000													70	108					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52941587C>T	ENST00000332323.6	+	4	974	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_ENST00000433050.1_Missense_Mutation_p.H292Y|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000													30	34					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179564869	179564869	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:179564869G>A	ENST00000444136.1	+	4	997	c.747G>A	c.(745-747)ccG>ccA	p.P249P	TDRD5_ENST00000367614.1_Silent_p.P249P|TDRD5_ENST00000294848.8_Silent_p.P249P	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	249					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						TGGAACCACCGAAGCAAATAA	0.398000													63	89					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831436	86831436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:86831436C>T	ENST00000237455.4	-	4	2556	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	530					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGAGACCCCTCCGACATTTCC	0.403000													180	251					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50381252	50381252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50381252C>T	ENST00000376020.2	-	3	351	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SHROOM4_ENST00000460112.3_5'UTR|SHROOM4_ENST00000289292.7_Missense_Mutation_p.G109E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	109					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCAGGGCATCCCTCCAGCAG	0.582000													25	32					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996032	166996032	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:166996032A>G	ENST00000061240.2	+	17	2838	c.2191A>G	c.(2191-2193)Aaa>Gaa	p.K731E	TLL1_ENST00000507499.1_Missense_Mutation_p.K754E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	731	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTGCTAGACAAAGATGAATG	0.403000													64	65					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044894	35044894	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:35044894G>A	ENST00000312292.5	+	2	2315	c.2268G>A	c.(2266-2268)ggG>ggA	p.G756G	C9orf131_ENST00000421362.2_Silent_p.G708G|C9orf131_ENST00000354479.5_Silent_p.G683G	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	756										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CGTGCCCAGGGGTTAAGGCAG	0.577000													58	29					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862762	10862762	+	RNA	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:10862762C>T	ENST00000559480.1	+	0	58																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGCCCAGTCCCAGGTACAGCT	0.552000													16	274					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560890	9560890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:9560890G>A	ENST00000378429.3	-	5	1438	c.892C>T	c.(892-894)Cca>Tca	p.P298S	PAK7_ENST00000353224.5_Missense_Mutation_p.P298S|PAK7_ENST00000378423.1_Missense_Mutation_p.P298S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	298	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTCCAAATGGCATCATCGGT	0.547000													123	178					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347590	91347590	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:91347590C>T	ENST00000358859.2	-	1	1363	c.930G>A	c.(928-930)gaG>gaA	p.E310E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		cctcttcctcctcatcttcga	0.522000													23	17					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233203	56233203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56233203G>A	ENST00000268912.5	+	1	710	c.689G>A	c.(688-690)gGa>gAa	p.G230E		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCCACTCGGGAAAGGCAAGG	0.507000													30	54					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661055	227661055	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:227661055A>C	ENST00000305123.4	-	1	3420	c.2400T>G	c.(2398-2400)taT>taG	p.Y800*		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	800					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGTTGCAGCATAGAGAAGGC	0.632000													102	135					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764005	77764005	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:77764005C>T	ENST00000521891.2	+	10	5296	c.4848C>T	c.(4846-4848)ctC>ctT	p.L1616L	ZFHX4_ENST00000518282.1_Silent_p.L1590L|ZFHX4_ENST00000050961.6_Silent_p.L1571L|ZFHX4_ENST00000455469.2_Silent_p.L1571L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GGTCTGTGCTCCACCAGACAA	0.517000										HNSCC(33;0.089)			70	52					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828641	72828641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:72828641G>A	ENST00000268489.5	-	9	8612	c.7940C>T	c.(7939-7941)aCc>aTc	p.T2647I	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1733I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2647					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGTGTGATGGTTGTTCTCAA	0.502000													221	297					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44153050	44153050	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:44153050A>C	ENST00000221264.4	-	6	1291	c.865T>G	c.(865-867)Tgg>Ggg	p.W289G	PLAUR_ENST00000601723.1_Missense_Mutation_p.W285G|PLAUR_ENST00000340093.3_Missense_Mutation_p.W334G|PLAUR_ENST00000339082.3_Intron	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	334	UPAR/Ly6 3.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTTTAGGTCCAGAGGAGAGTG	0.632000													79	109					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564602	176564602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:176564602G>A	ENST00000367662.3	+	3	3026	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.W621*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	621	Metalloprotease.				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						TGCTACTCCTGGAACCGCAGG	0.602000													35	64					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085754	92085754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:92085754C>T	ENST00000298047.6	+	1	493	c.476C>T	c.(475-477)tCa>tTa	p.S159L	FAT3_ENST00000409404.2_Missense_Mutation_p.S159L|FAT3_ENST00000525166.1_Missense_Mutation_p.S9L|FAT3_ENST00000541502.1_Missense_Mutation_p.S159L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	159	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGTTTTCACCCACAACA	0.413000										TCGA Ovarian(4;0.039)			43	55					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321802	52321802	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:52321802G>A	ENST00000356297.4	-	17	2482	c.2382C>T	c.(2380-2382)acC>acT	p.T794T	PXDNL_ENST00000543296.1_Silent_p.T794T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	794					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)				TGTGGTCGGGGGTGACGGCCG	0.731000													6	12					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111640356	111640356	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:111640356G>A	ENST00000374647.5	-	35	4081	c.3774C>T	c.(3772-3774)gcC>gcT	p.A1258A	IKBKAP_ENST00000537196.1_Silent_p.A909A	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1258					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TATCTTCAAAGGCCTTCTGTA	0.398000													53	11					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40540121	40540121	+	Silent	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:40540121A>T	ENST00000324817.1	-	20	2617	c.2499T>A	c.(2497-2499)atT>atA	p.I833I	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	833					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCCAAAGAAATGTGGAATT	0.358000													32	47					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760924	6760924	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6760924C>T	ENST00000245908.6	-	3	413	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	48	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCAGGAGATCACGGGGTTGC	0.642000													30	44					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107418389	107418389	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107418389T>A	ENST00000394872.2	-	30	3121	c.2890A>T	c.(2890-2892)Aac>Tac	p.N964Y	COL4A6_ENST00000372216.4_Missense_Mutation_p.N964Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.N963Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.N963Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.N963Y			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	964	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCCAAAGGTTTGACATTGGA	0.542000									Alport syndrome with Diffuse Leiomyomatosis				181	223					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348535	124348535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:124348535G>A	ENST00000368909.3	+	17	1965	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.R620Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R610Q|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R610Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	620	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCTTGG	0.592000													265	81					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470637	67470637	+	Missense_Mutation	SNP	G	G	A	rs147758873		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:67470637G>A	ENST00000326152.5	+	5	1081	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	317					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGCCATGTCCGACCTCACCCC	0.632000													96	161					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124293964	124293964	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124293964G>A	ENST00000356130.3	-	1	825	c.804C>T	c.(802-804)aaC>aaT	p.N268N		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCTGCCATGGTTCATAGAGC	0.448000													35	46					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960001	73960001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73960001C>T	ENST00000373468.1	-	3	5042	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1464E			Q5QGS0	K2022_HUMAN	KIAA2022	1464					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATGTGCTTTCCCTTACATTT	0.453000													74	90					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781961	128781961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:128781961G>A	ENST00000529694.1	+	2	1169	c.793G>A	c.(793-795)Gac>Aac	p.D265N	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D265N|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D265N	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	265					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGACACGGGCGACGACCGCCT	0.572000													61	80					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33386084	33386084	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:33386084G>A	ENST00000537089.1	-	5	558	c.240C>T	c.(238-240)ttC>ttT	p.F80F	AQP7_ENST00000539936.1_Silent_p.F172F|AQP7_ENST00000377425.4_Silent_p.F115F|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	172					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTCATTCAGGAAGCCCCGCC	0.587000													3	61					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171293297	171293297	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:171293297G>A	ENST00000367749.3	+	5	672	c.342G>A	c.(340-342)acG>acA	p.T114T	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	114					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)					GCAGCATAACGAAGCGTCCAG	0.468000													147	203					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028435	193028435	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:193028435C>T	ENST00000342358.4	-	21	2634	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	839					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTTAATTTCTGAAATTCTT	0.358000													51	54					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392938	86392938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:86392938G>A	ENST00000285379.5	+	7	933	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	235					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGGGAGGGTGAACCCGAAGA	0.393000													87	70					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233311	28233311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:28233311C>T	ENST00000305242.5	-	12	1675	c.1583G>A	c.(1582-1584)aGa>aAa	p.R528K	ARMC4_ENST00000537576.1_Missense_Mutation_p.R220K|ARMC4_ENST00000545014.1_Missense_Mutation_p.R53K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	528							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AATATTCTGTCTGATTTGAGG	0.378000													40	65					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121678851	121678851	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121678851C>G	ENST00000393386.2	+	19	5821	c.5410C>G	c.(5410-5412)Ctg>Gtg	p.L1804V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L937V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1804	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAGGCCCACTGAAATCCAC	0.383000													61	12					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399748	10399748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10399748C>T	ENST00000226207.5	-	34	4869	c.4775G>A	c.(4774-4776)aGa>aAa	p.R1592K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1592						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1592K(1)		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						AATGTGGTTTCTCTTCATCTG	0.463000													94	152					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626809	156626809	+	Silent	SNP	G	G	A	rs151238031		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156626809G>A	ENST00000329117.4	+	10	2466	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	710	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGCTGGGAGGAGGCAGAGA	0.652000													3	119					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182569515	182569515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:182569515G>A	ENST00000367558.5	-	5	669	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	174	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTAAGCAGGCGACTTCAGGAA	0.617000													95	88					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428631	222428631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:222428631G>A	ENST00000281821.2	-	3	684	c.643C>T	c.(643-645)Cct>Tct	p.P215S	EPHA4_ENST00000409854.1_Missense_Mutation_p.P215S|EPHA4_ENST00000392071.4_Missense_Mutation_p.P164S|EPHA4_ENST00000409938.1_Missense_Mutation_p.P215S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	215	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGGTGTCAGGAAACTGGGCC	0.512000													76	113					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813782	123813782	+	Missense_Mutation	SNP	G	G	A	rs76969055		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:123813782G>A	ENST00000321252.2	-	1	798	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S255Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGAAAGATGGAACTGCCATA	0.522000													57	91					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225374	206225374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:206225374G>A	ENST00000367126.4	+	1	1399	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	312					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAATGCCCCTGATGAAGGCAA	0.562000													72	133					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28877367G>A	ENST00000282397.4	-	30	4205	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_ENST00000540678.1_Silent_p.I536I|FLT1_ENST00000543394.1_Silent_p.I341I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567000													79	93					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855816	79855816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:79855816G>A	ENST00000338682.3	-	5	695	c.23C>T	c.(22-24)tCa>tTa	p.S8L		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	8						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCCTTCACTTGAAATTTCCAT	0.443000													18	46					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070217	153070217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153070217C>T	ENST00000164640.4	-	8	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PDZD4_ENST00000544474.1_Missense_Mutation_p.E192K|PDZD4_ENST00000393758.2_Missense_Mutation_p.E226K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	301						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGGGGGTTCGTCCCCCAGC	0.657000													69	72					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69335086	69335086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:69335086C>T	ENST00000260364.5	+	11	1835	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	NOX5_ENST00000448182.3_Missense_Mutation_p.R484C|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.R495C|NOX5_ENST00000530406.2_Missense_Mutation_p.R502C|NOX5_ENST00000388866.3_Missense_Mutation_p.R530C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	530	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCACTGGGCCGTGGTTCTAA	0.537000													21	62					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998302	108998302	+	Missense_Mutation	SNP	G	G	A	rs137946991		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:108998302G>A	ENST00000272452.2	+	2	580	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SULT1C4_ENST00000409309.3_Missense_Mutation_p.R85Q	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.R85Q(2)|p.R85L(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCATCAACGATTTCCTTTC	0.398000													45	66					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104641	87104641	+	RNA	SNP	G	G	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:87104641G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							AGGGCTGTATGAAGCAAAATG	0.413000													48	66					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917646	32917646	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:32917646A>G	ENST00000374843.4	-	3	479	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.F37L|HLA-DMA_ENST00000395303.3_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	132						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						TTCAGCGTGAACACTTCAGCG	0.498000													47	117					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12675748	12675748	+	Silent	SNP	A	A	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:12675748A>T	ENST00000297029.5	+	10	1499	c.1398A>T	c.(1396-1398)ggA>ggT	p.G466G	SCIN_ENST00000445618.2_Silent_p.G219G|SCIN_ENST00000519209.1_Silent_p.G219G	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	466	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCTTGGAGGACAGGCTGTGC	0.483000													19	30					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33562347	33562347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:33562347C>T	ENST00000294517.6	+	9	1380	c.793C>T	c.(793-795)Cca>Tca	p.P265S	ADC_ENST00000373440.1_Missense_Mutation_p.P107S|ADC_ENST00000398167.1_Missense_Mutation_p.P265S|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.P265S|ADC_ENST00000358680.3_Missense_Mutation_p.P107S|ADC_ENST00000373443.3_Missense_Mutation_p.P265S	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	265					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTGTACTTCCCAGAGGGCTG	0.522000													85	113					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21129779	21129779	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21129779C>T	ENST00000377122.4	-	13	1624		c.e13-1		NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						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						TATATTCTTTCTATGAGACAA	0.318000													14	12					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17068707	17068707	+	Silent	SNP	C	C	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17068707C>T	ENST00000443236.1	-	19	2404	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	744						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						GGAAGAAAGTCCTTTTTCTCT	0.363000													124	185					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719158	140719158	+	Missense_Mutation	SNP	T	T	C	rs75694557		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140719158T>C	ENST00000394576.2	+	1	620	c.620T>C	c.(619-621)gTt>gCt	p.V207A	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)			GAAGAGGCTGTTCACCACCTC	0.597000													43	46					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	47	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								10	338	---	---	---	---					
CDC42BPA	8476	broad.mit.edu	37	1	227288840	227288857	+	In_Frame_Del	DEL	TCATAAAAGATACTTTTC	TCATAAAAGATACTTTTC	-	rs67804260		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:227288840_227288857delTCATAAAAGATACTTTTC	ENST00000366769.3	-	15	3376_3393	c.2085_2102delGAAAAGTATCTTTTATGA	c.(2083-2103)aaa>aa	p.KKSIFYE695del	CDC42BPA_ENST00000366765.3_In_Frame_Del_p.KKSIFYE695del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.KKSIFYE695del|CDC42BPA_ENST00000366767.3_In_Frame_Del_p.KKSIFYE614del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.KKSIFYE695del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.KKSIFYE695del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.KKSIFYE695del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	695					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATTCTTCTTCATAAAAGATACTTTTCTTTTCCAAAT	0.307													17	78	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1907023	1907023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:1907023delA	ENST00000399161.2	-	14	2608	c.1861delT	c.(1861-1863)acfs	p.Y621fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.Y619fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	621					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)		TTGTTTCTGTAGCCATACTGA	0.468													29	38	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	GCC	-	rs56041243		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:49395674_49395676delGCC	ENST00000419783.1	-	1	357_359	c.36_38delGGC	c.(34-39)gcc>gc	p.AA12del	GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	12					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	p.A12_A13delAA(1)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													2	4	---	---	---	---					
CCDC80	151887	broad.mit.edu	37	3	112358682	112358682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:112358682delT	ENST00000206423.3	-	2	1024	c.71delA	c.(70-72)ccfs	p.H24fs	CCDC80_ENST00000439685.2_Frame_Shift_Del_p.H24fs|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	24										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCATGGGGGTGGGGTTCTGA	0.557													7	153	---	---	---	---					
BCHE	590	broad.mit.edu	37	3	165548196	165548196	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:165548196delT	ENST00000264381.3	-	2	792	c.626delA	c.(625-627)atfs	p.N209fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	209					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGCTGCTATATTTTTTTGAAC	0.458													7	181	---	---	---	---					
TRA2B	6434	broad.mit.edu	37	3	185637260	185637262	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:185637260_185637262delTCC	ENST00000453386.2	-	7	1020_1022	c.745_747delGGA	c.(745-747)del	p.G249del	TRA2B_ENST00000382191.4_In_Frame_Del_p.G149del	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	249	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAGCTCTCCAtcctcctcctcct	0.404													7	127	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269													12	330	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)del	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													6	2	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													8	192	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													9	287	---	---	---	---					
HRAS	3265	broad.mit.edu	37	11	533880	533881	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:533880_533881delGC	ENST00000417302.1	-	3	362_363	c.175_176delGC	c.(175-177)cfs	p.A59fs	HRAS_ENST00000311189.7_Frame_Shift_Del_p.A59fs|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Frame_Shift_Del_p.A59fs|HRAS_ENST00000397594.1_Frame_Shift_Del_p.A59fs|HRAS_ENST00000397596.2_Frame_Shift_Del_p.A59fs	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	59					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.A59T(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTCCTGGCCGGCGGTATCCAGG	0.604		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			119	183	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46921521	46921522	+	Frame_Shift_Ins	INS	-	-	G	rs35014453		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:46921521_46921522insG	ENST00000378623.1	-	4	564_565	c.322_323insC	c.(322-324)ggafs	p.G108fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	108					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCACACTCCCGGGGGGCTGTG	0.609													47	108	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													8	45	---	---	---	---					
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341																											ATATGGTACTACCACTACTACTA	0.522													9	481	---	---	---	---					
DNAJA3	9093	broad.mit.edu	37	16	4475962	4475962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:4475962delC	ENST00000262375.6	+	1	157	c.80delC	c.(79-81)gcfs	p.A27fs	DNAJA3_ENST00000355296.4_Frame_Shift_Del_p.A27fs|DNAJA3_ENST00000431375.2_5'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	27					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GGTAGAGGGGCCCGGCCGCCC	0.721													5	7	---	---	---	---					
IL27	246778	broad.mit.edu	37	16	28511201	28511201	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:28511201delT	ENST00000356897.1	-	5	525	c.503delA	c.(502-504)ggfs	p.E176fs		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ctcctcttcctcctcctcctc	0.672													2	4	---	---	---	---					
KPNB1	3837	broad.mit.edu	37	17	45755530	45755530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:45755530delA	ENST00000290158.4	+	18	2629	c.2222delA	c.(2221-2223)cgfs	p.Q741fs	KPNB1_ENST00000540627.1_Frame_Shift_Del_p.Q596fs|KPNB1_ENST00000537679.1_Frame_Shift_Del_p.Q525fs|KPNB1_ENST00000535458.2_Frame_Shift_Del_p.Q596fs	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	741					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACTCTTCAGCAGGCCTCCCAA	0.428													94	111	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)cccfs	p.P322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													7	178	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:16908642delT	ENST00000524140.2	+	16	3822	c.3404delT	c.(3403-3405)gtfs	p.V1135fs	NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													9	699	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)tafs	p.I255fs	SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													8	343	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44	---	---	---	---					
LGALS1	3956	broad.mit.edu	37	22	38074623	38074624	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:38074623_38074624insA	ENST00000215909.5	+	3	318_319	c.223_224insA	c.(223-225)ggcfs	p.G75fs	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	75	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGCAGCGGGAGGCTGTCTTT	0.688													35	6	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													8	147	---	---	---	---