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
CTSS	1520	broad.mit.edu	37	1	150727594	150727594	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:150727594G>A	ENST00000368985.3	-	4	542	c.282C>T	c.(280-282)tcC>tcT	p.S94S	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	94					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAACTCTCAGGGAACTCATCA	0.413000													69	230					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100497219	100497219	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:100497219C>T	ENST00000471714.1	-	58	4324	c.4213_splice	c.e58-1	p.G1405_splice	ABI3BP_ENST00000383691.4_Splice_Site_p.G657_splice|ABI3BP_ENST00000284322.5_Splice_Site_p.G703_splice			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	703						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGCGGCGAGTCCCTGGGATTG	0.398000													14	39					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712561	22712561	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:22712561G>A	ENST00000390294.2	+	0	360																											CCGGTCCGAGGATGAGGCTGA	0.592000													164	154					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51689707	51689707	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:51689707C>T	ENST00000335449.6	+	6	785	c.729C>T	c.(727-729)ccC>ccT	p.P243P	GLDN_ENST00000396399.2_Silent_p.P119P	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	243	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CACCTGGGCCCCCAGGCCCTC	0.642000													11	12					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065883	35065883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:35065883C>T	ENST00000382002.5	-	10	1603	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D292N|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D292N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	393					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CACTGGGGGTCCCAGGTGTGG	0.507000													89	175					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71906294	71906294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:71906294C>T	ENST00000258104.3	+	52	6152	c.5875C>T	c.(5875-5877)Ctt>Ttt	p.L1959F	DYSF_ENST00000409744.1_Missense_Mutation_p.L1967F|DYSF_ENST00000413539.2_Missense_Mutation_p.L1990F|DYSF_ENST00000409582.3_Missense_Mutation_p.L1997F|DYSF_ENST00000429174.2_Missense_Mutation_p.L1980F|DYSF_ENST00000410041.1_Missense_Mutation_p.L1977F|DYSF_ENST00000409762.1_Missense_Mutation_p.L1976F|DYSF_ENST00000409651.1_Missense_Mutation_p.L1991F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.L1998F|DYSF_ENST00000409366.1_Missense_Mutation_p.L1981F|DYSF_ENST00000394120.2_Missense_Mutation_p.L1960F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1959						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTGTGTCCCTTTTTGAGCA	0.537000													18	36					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106617294	106617294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:106617294C>T	ENST00000282249.2	-	7	2301	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	GUCY1A2_ENST00000526355.1_Intron|GUCY1A2_ENST00000347596.2_Intron	NM_001256424.1	NP_001243353.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	612	Guanylate cyclase.				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)		GTACCCAAATCCGTTTCACTT	0.423000													8	5					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157489	22157489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:22157489C>T	ENST00000397126.4	-	4	495	c.347G>A	c.(346-348)gGt>gAt	p.G116D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTGGTATAACCAATTTTTAA	0.358000													23	45					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53459651	53459651	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:53459651T>C	ENST00000301463.4	-	11	1380	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	SPRYD3_ENST00000547837.1_Missense_Mutation_p.K469E	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	432										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTGACTTTCTCCCCGCAG	0.562000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	120					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331808	100331808	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:100331808C>T	ENST00000341853.1	-	0	2383					NR_003260.1																						TCGGCCCATGCCAAGCAACCC	0.617000													80	43					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6222267	6222267	+	Splice_Site	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:6222267A>C	ENST00000264870.3	-	8	1376	c.1112_splice	c.e8+1	p.W371_splice		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	371					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CAAACTCACCACACTGAATCC	0.378000													31	57					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838012	176838012	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:176838012G>A	ENST00000367654.2	-	22	3652	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	ASTN1_ENST00000367657.3_Silent_p.F1205F|ASTN1_ENST00000361833.2_Silent_p.F1205F|ASTN1_ENST00000424564.2_Silent_p.F1205F			O14525	ASTN1_HUMAN	astrotactin 1	1213					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCGCCAGGTGAATTCCCCAA	0.473000													54	156					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088638	86088638	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:86088638G>A	ENST00000330753.4	+	2	1547	c.780G>A	c.(778-780)caG>caA	p.Q260Q	FLRT2_ENST00000554746.1_Silent_p.Q260Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	260					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCTATTTGCAGGACAACCAGA	0.488000													54	90					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888832	38888832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:38888832G>A	ENST00000302328.3	-	26	4927	c.4729C>T	c.(4729-4731)Cct>Tct	p.P1577S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1539S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1577S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1577					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTATGCCAGGGAGGTGGCAG	0.438000													30	51					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836821	43836821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:43836821G>A	ENST00000372781.3	+	2	940	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAGTACAGAAGAAAGACGACT	0.373000													14	51					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046845	175046845	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175046845G>A	ENST00000239462.4	+	2	404	c.291G>A	c.(289-291)aaG>aaA	p.K97K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	97					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)		CGCCACAGAAGGACTGCGAGT	0.602000													22	68					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664730	3664730	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:3664730G>A	ENST00000263087.4	-	5	498	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCTGGGGACGGAGGTCAGGG	0.562000													37	55					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766256	57766256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:57766256C>T	ENST00000371030.2	+	1	182	c.182C>T	c.(181-183)cCa>cTa	p.P61L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	61	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGCCCATCCCACTGTACCAC	0.701000													7	29					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20832950	20832950	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:20832950C>T	ENST00000256925.7	+	8	1473	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.P164P|CABLES1_ENST00000420687.2_Silent_p.P226P	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	491	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTGAAGCCCTCGGATCTCA	0.463000													14	38					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679654	53679654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:53679654G>A	ENST00000262135.4	-	17	2659	c.2566C>T	c.(2566-2568)Ctt>Ttt	p.L856F	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L856F|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.L856F|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L856F	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	856	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGACTTAAGGTATCGATCC	0.388000													51	90					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254467	158254467	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:158254467A>C	ENST00000296526.7	+	8	1442	c.1117A>C	c.(1117-1119)Att>Ctt	p.I373L	GRIA2_ENST00000393815.2_Missense_Mutation_p.I326L|GRIA2_ENST00000449365.1_Missense_Mutation_p.I326L|GRIA2_ENST00000264426.9_Missense_Mutation_p.I373L|GRIA2_ENST00000507898.1_Missense_Mutation_p.I326L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	373					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAACTATACAATTAACATCAT	0.383000													14	45					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65628823	65628823	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65628823G>A	ENST00000308110.4	+	3	617	c.268G>A	c.(268-270)Gac>Aac	p.D90N	CFL1_ENST00000534769.1_Missense_Mutation_p.H8Y|MUS81_ENST00000533035.1_Missense_Mutation_p.D15N	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	90					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TCCCGCAGGTGACCATGCCCC	0.592000								Homologous recombination					4	7					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968716	209968716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:209968716C>T	ENST00000367021.3	-	5	599	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	IRF6_ENST00000542854.1_Missense_Mutation_p.E48K	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	143					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCATCTTCTTCATCCACATCA	0.532000										HNSCC(57;0.16)			78	65					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795380	142795380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:142795380C>T	ENST00000370498.1	-	2	1051	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	100										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000													149	62					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114832644	114832644	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:114832644C>T	ENST00000310346.4	-	6	1231	c.565G>A	c.(565-567)Gat>Aat	p.D189N	TBX5_ENST00000349716.5_Missense_Mutation_p.D139N|TBX5_ENST00000526441.1_Missense_Mutation_p.D189N|TBX5_ENST00000405440.2_Missense_Mutation_p.D189N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	189					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTATTTTCATCCGCTTTCACG	0.368000													82	176					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113351887	113351887	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:113351887C>T	ENST00000458497.1	+	11	1463	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ALPK1_ENST00000177648.9_Missense_Mutation_p.S395F|ALPK1_ENST00000504176.2_Missense_Mutation_p.S317F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	395							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCAGCACTTCCTCCAGAAGT	0.478000													70	41					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561737	135561737	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:135561737C>T	ENST00000513104.1	-	9	2529	c.2247G>A	c.(2245-2247)ctG>ctA	p.L749L	TRPC7_ENST00000355180.3_Silent_p.L688L|TRPC7_ENST00000426057.2_Silent_p.L633L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	749					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTGGAATTCAGCATGCCCA	0.433000													12	12					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17033884	17033884	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:17033884C>T	ENST00000492551.1	-	0	594					NR_026567.1																						ACTTCCAGCTCCGCGCCGTTC	0.721000													5	7					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89820092	89820092	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:89820092C>T	ENST00000310775.7	+	13	1349	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	FANCI_ENST00000300027.8_Silent_p.L421L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	421					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATGTAAGCTCGGAGCTAATA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				39	151					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147037	55147037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:55147037G>A	ENST00000370862.3	+	7	1456	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	374					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E374*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTTCGAGAGGAATTTAAAGC	0.448000													3	45					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420583	37420583	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:37420583C>T	ENST00000397225.2	+	2	1242	c.327C>T	c.(325-327)tcC>tcT	p.S109S	MPST_ENST00000404802.3_Silent_p.S109S|MPST_ENST00000341116.3_Silent_p.S109S|MPST_ENST00000404393.1_Silent_p.S109S|MPST_ENST00000397129.1_Silent_p.S129S|MPST_ENST00000429360.2_Silent_p.S109S|MPST_ENST00000401419.3_Silent_p.S109S			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	109	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GCCTCTACTCCGCCCCGCGCG	0.716000													3	5					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307357	54307357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:54307357C>T	ENST00000545554.1	+	1	2257	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q753*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q753*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	753					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATACCAAAATCAAAACCAGTT	0.423000													6	7					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741165	140741165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140741165C>T	ENST00000522605.1	+	1	1463	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAAGTTTCCTACTCCATC	0.592000													51	7					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187752	57187752	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:57187752C>T	ENST00000331162.4	-	5	1640	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433000													116	210					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901700	23901700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:23901700G>A	ENST00000355349.3	-	6	680	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	173	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATCAGGATGGACTGGTTTTC	0.587000													33	85					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017245	109017245	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:109017245C>T	ENST00000388962.3	-	3	968	c.809G>A	c.(808-810)aGa>aAa	p.R270K	SELPLG_ENST00000550948.1_Missense_Mutation_p.R280K|SELPLG_ENST00000228463.6_Missense_Mutation_p.R296K	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	280					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GAACAGACCTCTTTTGGTAGT	0.572000													16	28					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615533	55615533	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55615533C>T	ENST00000326258.1	+	1	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTACTTGTTCCTCACACCTC	0.493000													20	49					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138068	203138068	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:203138068C>T	ENST00000255416.4	-	9	1440	c.1383G>A	c.(1381-1383)ggG>ggA	p.G461G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	461	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CAGATGCCTCCCCCAGCACAT	0.582000													97	229					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224650	43224650	+	Silent	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:43224650A>G	ENST00000236040.4	-	4	853	c.813T>C	c.(811-813)caT>caC	p.H271H	LEPRE1_ENST00000296388.5_Silent_p.H271H|LEPRE1_ENST00000397054.3_Silent_p.H271H	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	271					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGATGTAATGATCTGAAA	0.408000													31	41					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970033	123970033	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:123970033C>T	ENST00000369005.1	+	9	6433	c.6093C>T	c.(6091-6093)gcC>gcT	p.A2031A	TACC2_ENST00000358010.1_Silent_p.A177A|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Silent_p.A177A|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Silent_p.A109A|TACC2_ENST00000260733.3_Silent_p.A109A|TACC2_ENST00000369004.3_Silent_p.A109A|TACC2_ENST00000515603.1_Silent_p.A1986A|TACC2_ENST00000360561.3_Silent_p.A109A|TACC2_ENST00000515273.1_Silent_p.A2035A|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Silent_p.A2031A|TACC2_ENST00000453444.2_Silent_p.A2035A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2031						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCCGATAGCCAGCAGTGGGA	0.557000													12	38					0	0	1	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982837	42982837	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:42982837C>T	ENST00000418176.1	+	2	2190	c.156C>T	c.(154-156)gcC>gcT	p.A52A	KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000426937.1_Silent_p.A52A|KRBOX1_ENST00000383748.4_Silent_p.A52A			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	52	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			lung(2)	2						AGGCTGTGGCCTTTGTAGGTA	0.517000													6	11					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409050	39409050	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:39409050G>A	ENST00000257408.4	+	1	578	c.481G>A	c.(481-483)Gat>Aat	p.D161N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	161	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCTTTTCCCCGATGGAATAGT	0.378000													31	39					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140188444G>A	ENST00000530339.1	+	1	1672	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E558K|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E558K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000													75	29					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50137824	50137824	+	Silent	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50137824T>C	ENST00000281631.5	+	26	2645	c.2487T>C	c.(2485-2487)gaT>gaC	p.D829D	PARP8_ENST00000505554.1_Silent_p.D808D|PARP8_ENST00000514067.2_Silent_p.D787D|PARP8_ENST00000505697.2_Silent_p.D829D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Silent_p.D787D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	829	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAGTGGGAGATGCAAATATTA	0.333000													4	138					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154349	22154349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:22154349G>A	ENST00000397126.4	-	4	3635	c.3487C>T	c.(3487-3489)Cat>Tat	p.H1163Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTACAGTATGAATTTTCTTA	0.358000													15	20					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846804	47846804	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:47846804G>A	ENST00000339488.4	-	3	1809	c.1776C>T	c.(1774-1776)atC>atT	p.I592I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	592						integral to membrane	hedgehog receptor activity										TGGAGAAGATGATATCATTTC	0.418000													7	41					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289403	160289403	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:160289403C>T	ENST00000392783.2	-	9	2260	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E589K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E587K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E587K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGAATTGTTCCACTAAAGAT	0.398000													50	67					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96133005	96133005	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:96133005G>A	ENST00000296754.3	-	4	928	c.671C>T	c.(670-672)tCt>tTt	p.S224F	ERAP1_ENST00000443439.2_Missense_Mutation_p.S224F	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	224					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AACAGTCACAGATTTCACCTA	0.333000													76	41					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						80	135					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072801	17072801	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:17072801C>T	ENST00000359963.3	-	1	899	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	214					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGAATCCTCCAGTGTCCCC	0.617000													47	126					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624818	154624818	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:154624818G>A	ENST00000260010.6	+	1	2167	c.759G>A	c.(757-759)aaG>aaA	p.K253K		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	253					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGATTAAAAAGTTTACATTTA	0.323000													10	17					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:96480210G>A	ENST00000285979.6	+	6	1076	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.D234N	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CACTGTAACTGATATGTTTGG	0.398000													19	32					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986902	141986902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141986902C>T	ENST00000389484.3	-	6	1671	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	234					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)		GTATGAATTTCATTTCCATTG	0.294000										TSP Lung(27;0.18)			14	14					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871203	35871203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:35871203G>A	ENST00000303115.3	+	4	554	c.425G>A	c.(424-426)gGa>gAa	p.G142E	IL7R_ENST00000506850.1_Missense_Mutation_p.G142E|IL7R_ENST00000343305.4_Missense_Mutation_p.G142E	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	142	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATCGGGAAGGAGCCAATGAC	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						28	80					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640625	104640625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:104640625G>A	ENST00000304883.2	-	1	348	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	70						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)		TTGGCCCAGGGCTGGGAGGGC	0.652000													26	75					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91456430	91456430	+	Silent	SNP	G	G	A	rs143087998		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:91456430G>A	ENST00000373094.1	+	3	3935	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	PCDH11X_ENST00000406881.1_Silent_p.E1030E|PCDH11X_ENST00000373097.1_Silent_p.E1030E|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Silent_p.E1030E|PCDH11X_ENST00000504220.1_Silent_p.E1030E|PCDH11X_ENST00000373088.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1030					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAACTATGGAGATCTGGATTC	0.378000													33	7					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300404	18300404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:18300404G>A	ENST00000441493.2	-	26	5375	c.5023C>T	c.(5023-5025)Ccg>Tcg	p.P1675S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1675						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGACGGCGGGGAGAGGACC	0.657000													16	30					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083350	6083350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:6083350C>T	ENST00000409021.3	-	6	1536	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E198K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E363K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E363K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E198K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	363	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.E363K(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACGTTTTCCCGCGTGAGG	0.522000													31	78					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263294	140263294	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140263294G>T	ENST00000289272.2	+	1	1441	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D481Y|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCTCAGGACGCGGACGC	0.662000													38	153					4.44712e-29	4.58306e-29	1	1	0
IRF1	3659	broad.mit.edu	37	5	131823654	131823654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:131823654C>T	ENST00000245414.4	-	3	409	c.151G>A	c.(151-153)Gat>Aat	p.D51N	IRF1_ENST00000405885.2_Missense_Mutation_p.D51N|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	51					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AAACAGGCATCCTTGTTGATG	0.532000													96	46					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80059669	80059669	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:80059669C>T	ENST00000392347.1	-	17	2676	c.2640G>A	c.(2638-2640)aaG>aaA	p.K880K	CCDC57_ENST00000389641.4_Silent_p.K880K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	880										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGGCTGCTGTCTTCATCCCTG	0.582000													25	36					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:19378035C>T	ENST00000550708.1	+	1	514	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000													73	216					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183672951	183672951	+	Splice_Site	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:183672951A>C	ENST00000511685.1	+	20	3752		c.e20-1		TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site					teneurin transmembrane protein 3																		TCCTTTTCACAGCAGCAACCC	0.408000													38	117					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524853	112524853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:112524853G>A	ENST00000369697.1	-	1	565	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	KCND3_ENST00000302127.4_Missense_Mutation_p.R166C|KCND3_ENST00000315987.2_Missense_Mutation_p.R166C			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	166						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGGTCTGGCGGAAGCTGAGC	0.607000													12	25					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413470	72413470	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:72413470C>T	ENST00000395270.1	+	14	3184	c.2143C>T	c.(2143-2145)Ccg>Tcg	p.P715S	POM121_ENST00000257622.4_Missense_Mutation_p.P715S|POM121_ENST00000434423.2_Missense_Mutation_p.P980S|POM121_ENST00000358357.3_Missense_Mutation_p.P715S|POM121_ENST00000446813.1_Missense_Mutation_p.P715S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	980	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGGGCAGCCACCGGGGGCCGC	0.657000													27	91					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658415	48658415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:48658415C>T	ENST00000330862.3	-	2	438	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	114						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGATTGGGGCCCGCCGTTTC	0.632000													29	45					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126220114	126220114	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:126220114C>T	ENST00000290868.2	-	10	965	c.912G>A	c.(910-912)agG>agA	p.R304R	UROC1_ENST00000383579.3_Silent_p.R364R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	304					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)		CCTTTTTTTTCCTTGCTTCCC	0.582000													48	120					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474740	140474740	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140474740G>A	ENST00000194155.4	+	1	514	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGCGGAGCTACGGATTA	0.448000													57	9					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41204224	41204224	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:41204224G>A	ENST00000341495.2	+	5	611	c.506_splice	c.e5-1	p.R169_splice	TREML4_ENST00000448827.2_Splice_Site_p.R169_splice	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	169						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCCCTGCAGGAAATCAAGAG	0.597000													9	45					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518099	8518099	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:8518099G>A	ENST00000381196.4	-	18	1835	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	PTPRD_ENST00000540109.1_Missense_Mutation_p.S431L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S428L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S418L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S431L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S431L|PTPRD_ENST00000360074.4_Missense_Mutation_p.S418L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S421L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S428L|PTPRD_ENST00000397617.3_Missense_Mutation_p.S421L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S431L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S431*(4)		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)		AATGGTGGTCGAACTCAACAT	0.502000										TSP Lung(15;0.13)			51	122					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954500	119954500	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:119954500G>A	ENST00000327554.2	+	8	1421	c.956G>A	c.(955-957)aGa>aAa	p.R319K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	319										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)		GGGATGCAAAGAAAAGCACCC	0.448000													17	31					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240564	3240564	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:3240564G>A	ENST00000355072.5	+	66	9219	c.9074G>A	c.(9073-9075)aGc>aAc	p.S3025N		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3025					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)		ACTCTGCACAGCACCGGGCAG	0.677000													6	40					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89389521	89389521	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:89389521T>A	ENST00000264350.3	+	8	1235	c.1082T>A	c.(1081-1083)tTa>tAa	p.L361*	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	361					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAAAGGAGTTAATAATGATT	0.343000													42	27					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373538	86373538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:86373538C>T	ENST00000552435.2	-	5	525	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	MGAT4C_ENST00000549405.2_Silent_p.E322E|MGAT4C_ENST00000604798.1_Silent_p.E322E|MGAT4C_ENST00000548651.1_Silent_p.E322E|MGAT4C_ENST00000393205.2_Silent_p.E351E|MGAT4C_ENST00000552808.2_Silent_p.E322E|MGAT4C_ENST00000332156.1_Silent_p.E322E			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	0					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCAGCTTATTCTCCGTCCCTT	0.403000													46	51					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459570	9459570	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:9459570G>A	ENST00000378501.2	+	36	3514	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	PLCB4_ENST00000414679.2_Silent_p.A1166A|PLCB4_ENST00000278655.4_Silent_p.A1154A|PLCB4_ENST00000378493.1_Silent_p.A1154A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.A1166A|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1167K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	500					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTTATAGGCGAAGGAGATGC	0.458000													17	30					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566075	61566075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:61566075G>A	ENST00000577647.1	+	5	695	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	ACE_ENST00000421982.2_Missense_Mutation_p.R101Q|ACE_ENST00000490216.2_Missense_Mutation_p.R217Q|ACE_ENST00000428043.1_Missense_Mutation_p.R791Q|ACE_ENST00000290863.6_Missense_Mutation_p.R217Q|ACE_ENST00000413513.3_Missense_Mutation_p.R217Q|ACE_ENST00000290866.4_Missense_Mutation_p.R791Q			P12821	ACE_HUMAN	angiotensin I converting enzyme	791	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGGGCTGGCGAGACAAGGCG	0.562000													39	112					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651391	207651391	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:207651391C>T	ENST00000367057.3	+	16	3253	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	CR2_ENST00000458541.2_Missense_Mutation_p.P936S|CR2_ENST00000367058.3_Missense_Mutation_p.P963S|CR2_ENST00000367059.3_Missense_Mutation_p.P901S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	963					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAATGGAACCCTCCCCTGGC	0.532000													11	68					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125280117	125280117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:125280117C>T	ENST00000298282.9	+	8	885	c.614C>T	c.(613-615)tCc>tTc	p.S205F	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.S141F	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	205						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCCCCCAATTCCATGTCCGGA	0.572000													129	64					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545777	47545777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:47545777C>T	ENST00000300527.4	+	26	2152	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	COL6A2_ENST00000397763.1_Missense_Mutation_p.S683F|COL6A2_ENST00000310645.5_Missense_Mutation_p.S683F|COL6A2_ENST00000357838.4_Missense_Mutation_p.S683F|COL6A2_ENST00000409416.1_Missense_Mutation_p.S683F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	683	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTATCGACTCCCTGTCGAGC	0.622000													23	45					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931361	176931361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:176931361C>T	ENST00000501403.2	-	6	1295	c.946G>A	c.(946-948)Gag>Aag	p.E316K	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.E372K|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	372	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTTGGGCTCCGGGCCTAGC	0.642000													18	10					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17537820	17537820	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:17537820G>A	ENST00000005226.7	-	15	1227	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATCGTAACGATAAAACCAT	0.493000													12	25					0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442600	22442600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:22442600G>A	ENST00000265810.4	+	4	501	c.386G>A	c.(385-387)aGc>aAc	p.S129N	PDLIM2_ENST00000397761.2_Missense_Mutation_p.S129N|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S379N|PDLIM2_ENST00000397760.4_Missense_Mutation_p.S129N|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S129N|PDLIM2_ENST00000339162.7_Missense_Mutation_p.S129N|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S129N	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	129	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		ACCTCCCTCAGCCCGAGGGCC	0.617000													63	149					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961309	30961309	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:30961309G>C	ENST00000399914.1	-	10	1895	c.1374C>G	c.(1372-1374)gaC>gaG	p.D458E	GRIK1_ENST00000535441.1_Missense_Mutation_p.D475E|GRIK1_ENST00000399909.1_Missense_Mutation_p.D458E|GRIK1_ENST00000327783.4_Missense_Mutation_p.D473E|GRIK1_ENST00000309434.7_Missense_Mutation_p.D475E|GRIK1_ENST00000399907.1_Missense_Mutation_p.D473E|GRIK1_ENST00000399913.1_Missense_Mutation_p.D473E|GRIK1_ENST00000389125.3_Missense_Mutation_p.D458E|GRIK1_ENST00000389124.2_Missense_Mutation_p.D473E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	473					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)	CTTCAAATCTGTCATTTCCAT	0.363000													10	120					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760940	27760940	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:27760940T>G	ENST00000295743.4	-	3	1272	c.1069A>C	c.(1069-1071)Aat>Cat	p.N357H	EOMES_ENST00000449599.1_Missense_Mutation_p.N357H|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Missense_Mutation_p.N62H			O95936	EOMES_HUMAN	eomesodermin	357					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAACCAGTATTAGGAGACTCT	0.408000													34	65					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40310296	40310296	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:40310296G>A	ENST00000316891.5	-	9	1037	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	TRIT1_ENST00000372818.1_Silent_p.V315V|TRIT1_ENST00000537440.1_Silent_p.V37V|TRIT1_ENST00000537223.1_Silent_p.V37V|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Silent_p.V259V|TRIT1_ENST00000545233.1_Silent_p.V95V|TRIT1_ENST00000541099.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	341					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGACAGGGGGGACAATGGGAC	0.468000													21	48					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417738	57417738	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57417738C>T	ENST00000543257.1	-	6	1059	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	C8B_ENST00000535057.1_Missense_Mutation_p.E155K|C8B_ENST00000371237.4_Missense_Mutation_p.E217K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	217	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGTAGCTTTCCACATTGTAG	0.552000													53	75					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282786	152282786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152282786C>T	ENST00000368799.1	-	3	4611	c.4576G>A	c.(4576-4578)Gga>Aga	p.G1526R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACCTTCCCTGGGGTGTG	0.577000									Ichthyosis				153	479					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215031	141215031	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141215031C>T	ENST00000389484.3	-	61	10786		c.e61+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)		AGAATAATTACCATCAGGTTG	0.333000										TSP Lung(27;0.18)			31	86					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160120471	160120471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:160120471C>T	ENST00000357388.3	+	4	777	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SMC4_ENST00000360111.2_Missense_Mutation_p.S109F|SMC4_ENST00000462787.1_Missense_Mutation_p.S109F|SMC4_ENST00000344722.5_Missense_Mutation_p.S109F|SMC4_ENST00000469762.1_Missense_Mutation_p.S84F|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	109					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCGCTTTTCCTGTATTATC	0.323000													32	57					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227876987	227876987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:227876987C>T	ENST00000396625.3	-	45	4450	c.4243G>A	c.(4243-4245)Ggc>Agc	p.G1415S	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1412S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1415	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCCTCCTGCCATCCAGCCCA	0.562000													16	33					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164770	151164770	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:151164770C>T	ENST00000282466.3	-	4	2998	c.2999G>A	c.(2998-3000)aGt>aAt	p.S1000N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1000					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1000_N1003delSTVN(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTAACTGTACTATTTCTAGG	0.483000													33	47					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165718	166165718	+	Nonsense_Mutation	SNP	C	C	T	rs2228981		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:166165718C>T	ENST00000357398.3	+	6	939	c.649C>T	c.(649-651)Cga>Tga	p.R217*	SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.R217*			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	217					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCAGCTCTTCGAACTTTCAG	0.368000													9	29					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46134783	46134783	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:46134783G>A	ENST00000362042.3	+	5	1507	c.891G>A	c.(889-891)ttG>ttA	p.L297L	NFE2L1_ENST00000585291.1_Silent_p.L267L|NFE2L1_ENST00000583378.1_Silent_p.L98L|NFE2L1_ENST00000536222.1_Silent_p.L141L|NFE2L1_ENST00000582155.1_Silent_p.L109L|NFE2L1_ENST00000361665.3_Silent_p.L286L|NFE2L1_ENST00000357480.5_Silent_p.L267L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	297					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAACCTCTTGTCTCCTCTTC	0.493000													5	122					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242736	140242736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140242736C>T	ENST00000502505.1	-	1	488	c.240G>A	c.(238-240)tgG>tgA	p.W80*	PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron																							TGGTGAAGGACCACTGCGAGC	0.687000													27	4					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	557047	557047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:557047C>T	ENST00000329451.3	-	8	826	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	255										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)		GGAATGCTTTCCAGAGGACTC	0.667000													19	12					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703751	33703751	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:33703751C>T	ENST00000336934.5	-	5	1179	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	STARD13_ENST00000399365.3_Missense_Mutation_p.E237K|STARD13_ENST00000255486.4_Missense_Mutation_p.E347K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	355					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTGTTGGCCTCGTGGCACTTG	0.632000													35	82					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046776	175046776	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175046776C>T	ENST00000239462.4	+	2	335	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	74					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)		CGCTCTTGGCCCTGGGGGAGG	0.597000													17	26					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766649	57766649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:57766649G>A	ENST00000371030.2	+	1	575	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	192						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCACAGGCGGACGCAGACG	0.657000													89	67					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802343	237802343	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:237802343C>T	ENST00000366574.2	+	46	7274	c.6957C>T	c.(6955-6957)gtC>gtT	p.V2319V	RYR2_ENST00000542537.1_Silent_p.V2303V|RYR2_ENST00000360064.6_Silent_p.V2317V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAAATGTCGTGGTGAGAT	0.413000													14	51					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098691	133098691	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:133098691C>T	ENST00000515826.1	+	3	259	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	TMEM108_ENST00000393130.3_Missense_Mutation_p.P46S|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P46S			Q6UXF1	TM108_HUMAN	transmembrane protein 108	46						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCAGGCACTCCCCCGGGAAC	0.587000													103	147					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465848	61465848	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:61465848G>A	ENST00000398019.2	+	6	790	c.465G>A	c.(463-465)aaG>aaA	p.K155K	SERPINB7_ENST00000546027.1_Silent_p.K155K|SERPINB7_ENST00000540675.1_Silent_p.K138K|SERPINB7_ENST00000336429.2_Silent_p.K155K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	155					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCAAAATCAAGAACGTGATTG	0.338000													26	75					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													43	52					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155292770	155292770	+	Silent	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P402P	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726000													5	12					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554400	11554400	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:11554400G>A	ENST00000262442.3	+	13	2180	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	DNAH9_ENST00000454412.2_Silent_p.L704L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	704	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCAGTGCTGAAAGAAATGA	0.458000													55	114					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835412	61835412	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61835412C>T	ENST00000280772.1	-	37	5418	c.5227G>A	c.(5227-5229)Gaa>Aaa	p.E1743K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1743	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						GAAATTTTTTCCTGTAACGTG	0.418000													16	28					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	35					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936175	209936175	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:209936175G>C	ENST00000367024.1	+	5	1027	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E151Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E171Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E151Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E151Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	171						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GACAAAGGCAGAAGGACCAAC	0.483000													45	185					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756888	71756888	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:71756888C>A	ENST00000318442.5	-	2	926	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTTGCCCCCAAAGTGTTCC	0.622000													204	114					8.94944e-101	9.24993e-101	1	1	0
SLC2A1	6513	broad.mit.edu	37	1	43396774	43396774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:43396774G>A	ENST00000426263.3	-	3	396	c.218C>T	c.(217-219)tCt>tTt	p.S73F	SLC2A1_ENST00000415851.2_Missense_Mutation_p.S73F|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S73F|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	73					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GCCCCCAACAGAAAAGATGGC	0.587000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	45					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075953	56075953	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:56075953G>A	ENST00000394252.3	+	1	624	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	139							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TGGCTCCATGGATGTGGTGGT	0.577000													16	57					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599700	136599700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:136599700G>A	ENST00000531224.1	-	4	571	c.319C>T	c.(319-321)Cga>Tga	p.R107*	BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R107*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R105*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R105*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R107*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R105*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	107					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAACGACCTCGTCTAGGACTC	0.478000													38	125					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020499	41020499	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:41020499G>A	ENST00000585538.1	+	0	1338					NR_002773.1																						CCATGGGGTGGACTGCCCCTA	0.547000													12	14					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56997930	56997930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:56997930C>T	ENST00000370706.4	+	6	759	c.515C>T	c.(514-516)cCt>cTt	p.P172L	ZNF451_ENST00000491832.2_Missense_Mutation_p.P172L|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P172L	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTTTATGTCCTATAATGCAC	0.403000													52	71					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687051	43687051	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:43687051C>T	ENST00000360835.3	-	4	611		c.e4+1		SCUBE1_ENST00000290460.7_Splice_Site	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCTGTACTCACCATTGGAGCG	0.582000													9	10					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19443892	19443892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:19443892G>A	ENST00000375267.2	-	73	10649	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F	UBR4_ENST00000375217.2_Missense_Mutation_p.S3542F|UBR4_ENST00000375254.3_Missense_Mutation_p.S3549F|UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.S3525F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3549					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)		CACTTTAATGGAAGACAGCTT	0.423000													46	77					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110789085	110789085	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:110789085C>T	ENST00000327908.3	+	3	1093	c.329C>T	c.(328-330)tCg>tTg	p.S110L	LRIT3_ENST00000594814.1_Missense_Mutation_p.S293L|LRIT3_ENST00000409621.2_Missense_Mutation_p.S110L|LRIT3_ENST00000379920.3_Missense_Mutation_p.S248L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	248						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTGACAGCTCGCCAGTTAAT	0.438000													37	145					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505801	228505801	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:228505801G>A	ENST00000570156.2	+	64	17003	c.16929G>A	c.(16927-16929)acG>acA	p.T5643T	OBSCN_ENST00000422127.1_Silent_p.T4686T|OBSCN_ENST00000366709.4_Silent_p.T1805T|OBSCN_ENST00000366707.4_Silent_p.T2320T|OBSCN_ENST00000284548.11_Silent_p.T4686T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4686	SH3.				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)				AGGGCTTCACGGCAGAAGACC	0.637000													39	91					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4247874	4247874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:4247874G>A	ENST00000399609.3	-	4	314	c.302C>T	c.(301-303)cCg>cTg	p.P101L	SRL_ENST00000537996.1_Missense_Mutation_p.P59L	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	560	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AACACTCCACGGTCCCAGGAA	0.423000													34	39					0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624874	6624874	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:6624874A>T	ENST00000396706.2	+	7	1167	c.724A>T	c.(724-726)Acg>Tcg	p.T242S	ZDHHC4_ENST00000396707.2_Missense_Mutation_p.T242S|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.T242S|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.T242S|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.T242S|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.T242S|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	242						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGTTATGGACACGGTCTTTCT	0.408000													31	49					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99521204	99521204	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:99521204C>T	ENST00000312891.2	-	2	803	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	268						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tttgtttttcctgggctaagc	0.423000													43	57					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015312	75015312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:75015312G>A	ENST00000379727.3	-	2	325	c.127C>T	c.(127-129)Cca>Tca	p.P43S	CYP1A1_ENST00000395048.2_Missense_Mutation_p.P43S|CYP1A1_ENST00000567032.1_Missense_Mutation_p.P43S|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P43S			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	43					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CAGCCCCATGGCCCTGGTGGA	0.572000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				17	28					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99169988	99169988	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:99169988C>T	ENST00000401707.2	+	16	2645	c.2564C>T	c.(2563-2565)gCc>gTc	p.A855V	POP1_ENST00000349693.3_Missense_Mutation_p.A855V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	855					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTCCCCAGGGCCCTGGTTTGG	0.632000													27	82					0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943561	76943561	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:76943561G>A	ENST00000306602.1	-	3	301	c.236C>T	c.(235-237)tCg>tTg	p.S79L	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	79					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGCCTTCGATTCTGGATT	0.383000													41	115					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480299	206480299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:206480299C>T	ENST00000406610.2	+	23	3587	c.3380C>T	c.(3379-3381)cCc>cTc	p.P1127L	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1026L|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1065L|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1058L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1127					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAGCTATCCCCGCCCCACA	0.602000													25	59					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103003164	103003164	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:103003164C>T	ENST00000435765.1	+	7	865	c.454C>T	c.(454-456)Cca>Tca	p.P152S	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.P152S|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.P15S|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	152					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCACATTCCATTGCCTCC	0.328000													75	109					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259171	150259171	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:150259171C>T	ENST00000290363.5	+	5	1412	c.963C>T	c.(961-963)atC>atT	p.I321I	C1orf51_ENST00000369095.1_Silent_p.I321I|C1orf51_ENST00000369094.1_Silent_p.I233I	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	321										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCTGTCATCCCTGGTGAGC	0.552000													64	178					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221555	1221555	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:1221555C>T	ENST00000338555.2	+	4	1460	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	SCNN1D_ENST00000379116.5_Missense_Mutation_p.L270F|SCNN1D_ENST00000325425.8_Missense_Mutation_p.L172F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.L106F					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGGGGCTCCTCTTTGAGCG	0.692000													6	8					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72576216	72576216	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:72576216G>A	ENST00000375352.1	-	4	590	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	170						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCCAGGAGGAACAGGAACA	0.582000													5	14					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937246	43937246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:43937246C>T	ENST00000282406.4	+	12	2194	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	695	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCATCTTCCAGTGATAAT	0.393000													20	54					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369074	56369074	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:56369074G>A	ENST00000301295.6	+	3	737	c.315G>A	c.(313-315)caG>caA	p.Q105Q	NLRP4_ENST00000587891.1_Silent_p.Q30Q|NLRP4_ENST00000346986.5_Silent_p.Q105Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	105							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)		ACGCAAAGCAGAAATTCAGCC	0.438000													17	38					0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38882851	38882851	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:38882851G>A	ENST00000587013.1	+	3	556		c.e3-1		SPRED3_ENST00000587564.2_Splice_Site|SPRED3_ENST00000338502.4_Splice_Site|SPRED3_ENST00000586301.1_Splice_Site			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3						multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCTGCCCCAGGCTCACTCAc	0.642000													10	7					0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48851964	48851964	+	Splice_Site	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:48851964T>C	ENST00000425583.2	+	6	517	c.241_splice	c.e6-1	p.L81_splice	OCIAD1_ENST00000509122.1_Splice_Site_p.L54_splice|OCIAD1_ENST00000264312.7_Splice_Site_p.L81_splice|OCIAD1_ENST00000396448.2_Splice_Site_p.L81_splice|OCIAD1_ENST00000513391.2_Splice_Site_p.L81_splice|OCIAD1_ENST00000381473.3_Splice_Site_p.L81_splice|OCIAD1_ENST00000506801.1_Splice_Site_p.L27_splice|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Splice_Site_p.L81_splice|OCIAD1_ENST00000444354.2_Splice_Site_p.L81_splice	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	81	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TACAAATAAGTTGCTTGTATC	0.303000													10	29					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996725	1996725	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:1996725G>A	ENST00000268661.7	-	7	946	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	284					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CGATGCGGAAGATCTGCCAGA	0.632000													22	49					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47646800	47646800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:47646800G>A	ENST00000413379.3	+	2	250	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Missense_Mutation_p.E50K|SAE1_ENST00000392776.3_Missense_Mutation_p.E50K|SAE1_ENST00000270225.7_Missense_Mutation_p.E50K	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	50					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		ACTTGGGGCTGAAATTGCCAA	0.517000													41	68					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141253291	141253291	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:141253291C>T	ENST00000389484.3	-	56	9848	c.8877G>A	c.(8875-8877)ctG>ctA	p.L2959L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2959	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2959L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGTCATCCTTCAGTTGGAATC	0.408000										TSP Lung(27;0.18)			30	23					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672472	198672472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:198672472G>A	ENST00000367376.2	+	7	794	c.623G>A	c.(622-624)gGa>gAa	p.G208E	PTPRC_ENST00000442510.2_Missense_Mutation_p.G210E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G47E|PTPRC_ENST00000352140.3_Missense_Mutation_p.G160E|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Missense_Mutation_p.G49E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	208					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCCCTTCTGGAAGCGCTGTC	0.438000													63	164					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42596369	42596369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:42596369C>T	ENST00000264449.10	-	7	680	c.461G>A	c.(460-462)gGa>gAa	p.G154E	ATP8A1_ENST00000381668.5_Intron	NM_001105529.1	NP_001098999.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	154					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AACTATATCTCCAACATTTAC	0.343000													29	49					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12195173	12195173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:12195173G>A	ENST00000287814.4	-	5	1027	c.517C>T	c.(517-519)Cct>Tct	p.P173S	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	173							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CACTCGTTAGGGGCCGAGATG	0.507000													47	90					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750651	79750651	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:79750651C>T	ENST00000305428.3	+	2	2237	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	721						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCCACAGAGTCCAAAATTGCC	0.532000													24	51					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039147	5039147	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:5039147C>T	ENST00000574788.1	+	17	2818	c.588C>T	c.(586-588)ttC>ttT	p.F196F	USP6_ENST00000250066.6_Silent_p.F196F|USP6_ENST00000332776.4_Silent_p.F196F|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	196	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCGCCTTGTTCCTCCTTTATC	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								60	112					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399219	67399219	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:67399219C>T	ENST00000335385.3	-	8	1102	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	339					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTTGGGATCCCTAGGTGGCTC	0.657000													3	1					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086460	75086460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:75086460C>T	ENST00000326665.5	-	8	1176	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	C1orf173_ENST00000420661.2_Missense_Mutation_p.G123R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	320										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGGTTTTCCCCACCACAGTGC	0.363000													32	96					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33018276	33018276	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:33018276C>T	ENST00000375030.2	+	13	1359	c.741C>T	c.(739-741)atC>atT	p.I247I	C10orf68_ENST00000375028.3_Silent_p.I215I|C10orf68_ENST00000375025.4_Silent_p.I239I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	239										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTTAGAAATCAAAAAAAAGG	0.318000													11	27					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11736152	11736152	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:11736152G>A	ENST00000235310.3	-	8	1306	c.378C>T	c.(376-378)ttC>ttT	p.F126F	MAD2L2_ENST00000376667.3_Silent_p.F126F|MAD2L2_ENST00000376669.5_Silent_p.F139F|MAD2L2_ENST00000376672.1_Silent_p.F139F|MAD2L2_ENST00000376692.4_Silent_p.F126F			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	126	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAGGATGAAGGCCCGGA	0.607000								DNA polymerases (catalytic subunits)					20	46					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102459	73102459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:73102459G>A	ENST00000264839.7	+	27	4112	c.4112G>A	c.(4111-4113)gGa>gAa	p.G1371E	RIMS1_ENST00000520567.1_Missense_Mutation_p.G1172E|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1201E|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1345E|RIMS1_ENST00000517827.1_Missense_Mutation_p.G656E|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1121E|RIMS1_ENST00000414192.2_Missense_Mutation_p.G49E|RIMS1_ENST00000538414.1_Missense_Mutation_p.G328E|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1305E|RIMS1_ENST00000401910.3_Missense_Mutation_p.G842E|RIMS1_ENST00000425662.2_Missense_Mutation_p.G590E|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1305E|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1522E|RIMS1_ENST00000523963.1_Missense_Mutation_p.G647E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1522	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G1522V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCTTGATGGATTGGGACCA	0.408000													42	57					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413713	65413713	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65413713G>A	ENST00000394224.3	+	7	1581	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	SIPA1_ENST00000394227.3_Missense_Mutation_p.G429S|SIPA1_ENST00000527525.1_Missense_Mutation_p.G429S|SIPA1_ENST00000534313.1_Missense_Mutation_p.G429S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	429	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCGCCACATTGGCAACGACAT	0.592000													60	126					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480812	57480812	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57480812G>A	ENST00000371236.2	-	12	1451	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	DAB1_ENST00000414851.2_Silent_p.S378S|DAB1_ENST00000371231.1_Silent_p.S429S|DAB1_ENST00000371234.4_Silent_p.S396S|DAB1_ENST00000439789.2_Silent_p.S310S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.S394S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	429					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTGACCTGGTGGAGTCACTCG	0.597000													43	68					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209928	57209928	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:57209928C>G	ENST00000343433.6	-	10	1479	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	467										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCCAAAACCTCCAGATGCCCA	0.453000													9	18					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693790	30693790	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:30693790C>G	ENST00000399921.1	+	2	432	c.189C>G	c.(187-189)atC>atG	p.I63M	BACH1_ENST00000286800.3_Missense_Mutation_p.I63M	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	63	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACTCAAGAATCGTAGGCCAGG	0.478000													24	47					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983992	97983992	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:97983992G>T	ENST00000383696.2	+	1	905	c.864G>T	c.(862-864)atG>atT	p.M288I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCAAGATATGATGGAGTCTC	0.413000													16	26					1.1804e-14	1.20944e-14	1	1	0
FLG2	388698	broad.mit.edu	37	1	152324459	152324459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152324459G>A	ENST00000388718.5	-	3	5875	c.5803C>T	c.(5803-5805)Cct>Tct	p.P1935S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1935							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGACTAGGGTGGCCATGT	0.527000													102	262					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371229	84371229	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84371229C>T	ENST00000428679.2	-	5	1037	c.444G>A	c.(442-444)gtG>gtA	p.V148V	SNAP91_ENST00000521743.1_Silent_p.V148V|SNAP91_ENST00000437520.1_Silent_p.V148V|SNAP91_ENST00000520302.1_Silent_p.V148V|SNAP91_ENST00000521485.1_Silent_p.V148V|SNAP91_ENST00000520213.1_Silent_p.V148V|SNAP91_ENST00000439399.2_Silent_p.V148V|SNAP91_ENST00000369694.2_Silent_p.V148V|SNAP91_ENST00000195649.6_Silent_p.V148V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	148					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCTTTCTTCACCCTGGCAA	0.338000													10	18					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768171	45768171	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:45768171C>T	ENST00000357450.4	-	13	2059	c.2058_splice	c.e13-1	p.G687_splice	SMC1B_ENST00000404354.3_Splice_Site_p.G687_splice	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	687					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTCATTAAACCCTAAAAGGA	0.318000													23	14					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41708329	41708329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:41708329C>T	ENST00000373025.3	-	6	729	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	223					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)			ACAACCGCTCCCCCGCTGGAG	0.587000													7	217					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108069	151108069	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:151108069G>A	ENST00000341697.3	-	14	3122	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	477	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCTCACCGGGCAGGGCTGT	0.602000													65	156					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766069	43766069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:43766069C>T	ENST00000244293.7	-	3	718	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG9_ENST00000270077.3_Missense_Mutation_p.E218K|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.E218K|PSG9_ENST00000418820.2_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.512000													148	256					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503652	96503652	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:96503652T>A	ENST00000283109.3	-	8	984	c.916A>T	c.(916-918)Aca>Tca	p.T306S	RIOK2_ENST00000508447.1_Missense_Mutation_p.T306S|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	306	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATTTCCTTTGTGTAGCCACTG	0.388000													75	46					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411104	65411104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:65411104G>A	ENST00000204549.4	-	5	1463	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	470					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGGGAGCGGGGGAAGGACCCA	0.502000													20	47					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446415	43446415	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:43446415G>A	ENST00000500337.2	-	5	888	c.557C>T	c.(556-558)tCa>tTa	p.S186L	C5orf28_ENST00000397080.3_Missense_Mutation_p.S186L|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Missense_Mutation_p.S55L|C5orf28_ENST00000510130.1_Missense_Mutation_p.S84L|C5orf28_ENST00000512085.1_Missense_Mutation_p.S186L			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	186						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AGGTAAAGATGATGTGATTAT	0.388000													104	49					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109459056	109459056	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:109459056G>A	ENST00000356711.2	+	7	831	c.705G>A	c.(703-705)aaG>aaA	p.K235K	MYO16_ENST00000251041.5_Silent_p.K235K|MYO16_ENST00000357550.2_Silent_p.K235K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	235					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGGCTACAAGGAGGTGGTGT	0.453000													25	59					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888116	34888116	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:34888116C>T	ENST00000360581.1	+	8	994	c.866C>T	c.(865-867)cCa>cTa	p.P289L	NPSR1_ENST00000531252.1_Missense_Mutation_p.P278L|NPSR1_ENST00000381539.3_Missense_Mutation_p.P289L|NPSR1_ENST00000381542.1_Missense_Mutation_p.P223L|NPSR1_ENST00000359791.1_Missense_Mutation_p.P289L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	289						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGTTGGAGTCCATACTTCCTG	0.483000													273	396					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326117	31326117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:31326117C>T	ENST00000269197.5	+	12	6305	c.6305C>T	c.(6304-6306)tCc>tTc	p.S2102F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2102					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						AAACAAGTTTCCTATGACCAG	0.413000													23	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:3248289C>T	ENST00000217939.6	-	4	633	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	160						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)				GAGGAGATTTCCTTCCAAATG	0.468000													17	3					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544275	23544275	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:23544275G>A	ENST00000300619.7	-	4	1711	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	ZNF91_ENST00000397082.2_Silent_p.S470S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	502						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAGGGTTGAGGATTGCCTAA	0.368000													24	56					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35289644	35289644	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:35289644A>G	ENST00000408931.3	-	2	825	c.299T>C	c.(298-300)aTt>aCt	p.I100T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	100						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCTGCAGGCAATTTTGGCCAT	0.582000													20	100					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087331	55087331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:55087331G>A	ENST00000251377.3	+	7	1143	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G337E|LILRA2_ENST00000251376.3_Missense_Mutation_p.G337E|LILRA2_ENST00000391737.1_Missense_Mutation_p.G325E|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTAGCCCCAGGAAAGAACGTG	0.592000													25	33					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919443	13919443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:13919443G>A	ENST00000265104.4	-	7	921	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	273	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)					TTCAGCAGCTGATTGTTTTCA	0.463000									Kartagener syndrome				224	33					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524423	55524423	+	Missense_Mutation	SNP	C	C	T	rs148051420		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55524423C>T	ENST00000305377.5	+	1	959	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGACAGATTTCCTGAGCTGAG	0.463000													73	134					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488000													57	74					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518184	8518184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:8518184G>A	ENST00000381196.4	-	18	1750	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	PTPRD_ENST00000540109.1_Missense_Mutation_p.P403S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P400S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P390S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P403S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P403S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P390S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P393S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P400S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P393S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P403S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	403	Fibronectin type-III 1.				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)		TCGCTGGGAGGCCCCCGCCCA	0.537000										TSP Lung(15;0.13)			58	98					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786587	67786587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:67786587C>T	ENST00000422365.2	+	3	292	c.121C>T	c.(121-123)Cga>Tga	p.R41*	MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.R41*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.R41*|MCMDC2_ENST00000492775.1_Nonsense_Mutation_p.R41*|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Intron	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	41					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGCTGTCTATCGATTCAAAAT	0.303000													13	22					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98709590	98709590	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:98709590A>T	ENST00000477737.1	+	2	239	c.35A>T	c.(34-36)gAg>gTg	p.E12V	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.E12V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	12										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCATCTCTGAGCAGCAGCTG	0.453000													35	27					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266022	39266022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:39266022G>A	ENST00000280481.7	+	1	4757	c.4541G>A	c.(4540-4542)gGa>gAa	p.G1514E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1514					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTCACCGATGGACGTAACCCT	0.443000													49	78					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955016	141955016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:141955016C>T	ENST00000552471.1	-	3	614	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PRSS58_ENST00000547058.2_Missense_Mutation_p.D99N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATGTCATGATCAATAGAAGTG	0.403000													87	175					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308966	248308966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:248308966G>A	ENST00000366476.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGGTCTCGGGAAATAGCCCA	0.428000													109	401					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73474896	73474896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:73474896C>T	ENST00000539919.1	+	8	864	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	CCT7_ENST00000398422.2_Nonsense_Mutation_p.Q5*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Q81*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Q109*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Q209*|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Q122*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	209					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ACAGGATTCTCAGCTGGTAGC	0.383000													12	24					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791100	95791100	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:95791100G>A	ENST00000260766.3	+	2	931	c.297G>A	c.(295-297)gcG>gcA	p.A99A	PLCE1_ENST00000371380.2_Silent_p.A99A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	99					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGATTCTGCGAAAAACCTTA	0.388000													23	44					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117547	124117547	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:124117547C>T	ENST00000360013.3	+	13	2296	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	KALRN_ENST00000240874.3_Silent_p.D723D|KALRN_ENST00000460856.1_Silent_p.D723D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	723					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCACAGGGACTCGGCTGTGT	0.557000													83	187					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	720118	720118	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:720118C>T	ENST00000533256.1	+	6	597	c.222C>T	c.(220-222)gcC>gcT	p.A74A	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.A74A|EPS8L2_ENST00000318562.8_Silent_p.A74A|EPS8L2_ENST00000530636.1_Silent_p.A74A			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	74	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGACGACGCCATCCGGAAGC	0.612000													12	25					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447069	22447069	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:22447069G>A	ENST00000390443.3	+	0	270																											GTTGCAGGAGGAACCAGAGCC	0.453000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	92					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563194	51563194	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51563194G>A	ENST00000595793.1	-	3	438	c.396C>T	c.(394-396)tcC>tcT	p.S132S	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.S132S	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	132	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCTGGACCGGGGACTGCAGCT	0.607000													34	80					0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48631747	48631747	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:48631747G>A	ENST00000303227.6	+	4	420	c.379G>A	c.(379-381)Gag>Aag	p.E127K	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						CCCTATTGAGGAGGGGCCAGT	0.453000													22	7					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876234	876234	+	Silent	SNP	C	C	T	rs149025034	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:876234C>T	ENST00000323510.4	-	9	1076	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	BRD9_ENST00000483173.1_Silent_p.T402T|BRD9_ENST00000388890.4_Silent_p.T339T|BRD9_ENST00000467963.1_Silent_p.T455T|BRD9_ENST00000435709.2_3'UTR			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	455							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTGGAAGAGCGTCCTAGAGT	0.632000													16	66					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27401036	27401036	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:27401036C>A	ENST00000326799.3	-	20	2340	c.2192G>T	c.(2191-2193)cGa>cTa	p.R731L	YME1L1_ENST00000375972.3_Missense_Mutation_p.R641L|YME1L1_ENST00000376016.3_Missense_Mutation_p.R674L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	731					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTTTTGCTCGTTCATATGA	0.383000													11	27					0.000151284	0.00015236	1	1	0
NONO	4841	broad.mit.edu	37	X	70511803	70511803	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:70511803G>A	ENST00000535149.1	+	2	705	c.62G>A	c.(61-63)gGa>gAa	p.G21E	NONO_ENST00000373841.1_Missense_Mutation_p.G110E|NONO_ENST00000373856.3_Missense_Mutation_p.G110E|NONO_ENST00000276079.8_Missense_Mutation_p.G110E	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	110					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)					AAGGATAAAGGATTTGGCTTT	0.428000			T	TFE3	papillary renal cancer								59	24					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104852	44104852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:44104852C>T	ENST00000297283.3	-	1	334	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	93					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GTGAGGCCCCCGTAATGCCGC	0.667000													37	44					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464851	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:51464851G>A	ENST00000374095.5	-	7	1730	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTG	0.552000													33	70					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728368	69728368	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:69728368C>T	ENST00000370598.1	+	13	2905	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	695					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTCAGAATTCATACTTAATG	0.328000													26	61					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30075288	30075288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:30075288G>A	ENST00000431530.3	+	13	3941	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MTUS2_ENST00000542829.1_Missense_Mutation_p.E174K|MTUS2_ENST00000380808.2_Missense_Mutation_p.E264K|MTUS2_ENST00000400542.3_3'UTR	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1285						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						ACAGCAGAACGAAGACCTCAA	0.428000													21	36					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874018	144874018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:144874018G>A	ENST00000369359.4	-	34	5385	c.5347C>T	c.(5347-5349)Cat>Tat	p.H1783Y	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H1647Y|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H1647Y|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H1603Y|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1647					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGACTCGAATGATGGATGGAA	0.458000			T	PDGFRB	MPD								88	485					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180908	19180908	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:19180908C>T	ENST00000375371.3	-	3	1077	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	352					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCTGGCTGGTCCTGCTGAGGG	0.632000													11	18					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142234333	142234333	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:142234333G>A	ENST00000350721.4	-	25	4528	c.4407C>T	c.(4405-4407)acC>acT	p.T1469T	ATR_ENST00000383101.3_Silent_p.T1405T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1469					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGACCAATCGGTTGACTTCT	0.323000								Other conserved DNA damage response genes					15	16					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095254	167095254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:167095254G>A	ENST00000361200.2	+	6	1052	c.886G>A	c.(886-888)Gag>Aag	p.E296K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E296K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E296K|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	296					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGAGGCTGAGGAGGGCGA	0.642000													21	47					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47531996	47531996	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:47531996C>T	ENST00000300527.4	+	3	323	c.219C>T	c.(217-219)ttC>ttT	p.F73F	COL6A2_ENST00000397763.1_Silent_p.F73F|COL6A2_ENST00000310645.5_Silent_p.F73F|COL6A2_ENST00000357838.4_Silent_p.F73F|COL6A2_ENST00000409416.1_Silent_p.F73F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	73	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGAAGCAGTTCGTGCCGCAGT	0.617000													31	49					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737953	152737953	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:152737953G>A	ENST00000367255.5	-	41	6220	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	SYNE1_ENST00000423061.1_Silent_p.F1880F|SYNE1_ENST00000265368.4_Silent_p.F1873F|SYNE1_ENST00000448038.1_Silent_p.F1880F|SYNE1_ENST00000341594.5_Silent_p.F1910F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1873					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)		GGCTCTGGAGGAATTCTGCCA	0.542000										HNSCC(10;0.0054)			20	44					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395399	29395399	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:29395399C>T	ENST00000377149.1	-	5	492	c.20G>A	c.(19-21)gGa>gAa	p.G7E	OR11A1_ENST00000377147.2_Missense_Mutation_p.G7E|OR11A1_ENST00000377148.1_Missense_Mutation_p.G7E|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTTTCGTTTCCTGTGGAGAC	0.398000													37	44					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058294	42058294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:42058294C>T	ENST00000219905.7	+	24	8195	c.8014C>T	c.(8014-8016)Cct>Tct	p.P2672S	MGA_ENST00000389936.4_Missense_Mutation_p.P2633S|MGA_ENST00000545763.1_Missense_Mutation_p.P2463S|MGA_ENST00000566586.1_Missense_Mutation_p.P2463S|MGA_ENST00000570161.1_Missense_Mutation_p.P2672S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2633						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)		CAGCAAATATCCTCATGAAGT	0.418000													41	53					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32754816	32754816	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:32754816A>T	ENST00000421745.2	+	60	12153	c.12019A>T	c.(12019-12021)Aaa>Taa	p.K4007*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4007					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTGACTGTTAAATTGGGATC	0.393000													29	23					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850459	216850459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:216850459G>A	ENST00000391890.3	-	4	879	c.362C>T	c.(361-363)tCa>tTa	p.S121L	ESRRG_ENST00000366940.2_Missense_Mutation_p.S121L|ESRRG_ENST00000359162.2_Missense_Mutation_p.S121L|ESRRG_ENST00000493748.1_Missense_Mutation_p.S121L|ESRRG_ENST00000493603.1_Missense_Mutation_p.S121L|ESRRG_ENST00000487276.1_Missense_Mutation_p.S121L|ESRRG_ENST00000366937.1_Missense_Mutation_p.S149L|ESRRG_ENST00000463665.1_Missense_Mutation_p.S121L|ESRRG_ENST00000361395.2_Missense_Mutation_p.S121L|ESRRG_ENST00000408911.3_Missense_Mutation_p.S144L|ESRRG_ENST00000366938.2_Missense_Mutation_p.S121L|ESRRG_ENST00000360012.3_Missense_Mutation_p.S121L|ESRRG_ENST00000361525.3_Missense_Mutation_p.S121L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	144					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GGCTTCACATGATGCTACCCC	0.488000													45	108					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8592300	8592300	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:8592300T>G	ENST00000338257.8	-	22	2663	c.2396A>C	c.(2395-2397)aAg>aCg	p.K799T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	799						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTCAGGTCCCTTCTTCACTTT	0.557000													17	22					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194537	36194537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:36194537C>T	ENST00000242108.4	+	2	1322	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P202S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	202					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAGGTCCAGGCCCCCATCCAC	0.637000													80	103					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:108315580C>T	ENST00000520734.1	-	4	509	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G74E			Q15389	ANGP1_HUMAN	angiopoietin 1	275					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000													31	51					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877853	130877853	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:130877853T>C	ENST00000357462.5	-	1	329	c.236A>G	c.(235-237)aAc>aGc	p.N79S	POTEF_ENST00000409914.2_Missense_Mutation_p.N79S|POTEF_ENST00000361163.4_Missense_Mutation_p.N79S|POTEF_ENST00000360967.5_Missense_Mutation_p.N79S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	79						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCGCCCACGTTGCTCTTGCC	0.602000													45	141					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143521	161143521	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:161143521G>A	ENST00000348849.3	-	7	1145	c.715C>T	c.(715-717)Cct>Tct	p.P239S	RBMS1_ENST00000392753.3_Missense_Mutation_p.P239S|RBMS1_ENST00000409972.1_Missense_Mutation_p.P206S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P206S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P206S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	239					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CTTCCATTAGGGATGTATTTG	0.443000													44	156					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022649	18022649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:18022649G>A	ENST00000205890.5	+	2	873	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	179	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCGGGTGCCGAGATCCTGCG	0.726000													18	23					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130429	71130429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:71130429C>T	ENST00000333538.5	+	7	1748	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	372	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGGTCCTTCCTTGCTCACG	0.527000													112	136					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114484769	114484769	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:114484769T>A	ENST00000394779.3	-	11	1986	c.1742A>T	c.(1741-1743)aAa>aTa	p.K581I	C9orf84_ENST00000394777.4_Missense_Mutation_p.K581I|C9orf84_ENST00000374287.3_Missense_Mutation_p.K620I|C9orf84_ENST00000318737.4_Missense_Mutation_p.K620I	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	620										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGGCAAATTTCCAATTAGC	0.408000													38	28					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73425459	73425459	+	Silent	SNP	G	G	A	rs139772335		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:73425459G>A	ENST00000555042.1	+	14	1481	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	DCAF4_ENST00000394234.2_Silent_p.A378A|DCAF4_ENST00000353777.3_Silent_p.A308A|DCAF4_ENST00000509153.1_Silent_p.A418A|DCAF4_ENST00000358377.2_Silent_p.A478A	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	478						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCCGGGGCGCGCCGGGGCTGC	0.632000													6	168					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165655	51165655	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51165655G>A	ENST00000293441.1	-	23	6071	c.6053C>T	c.(6052-6054)tCg>tTg	p.S2018L	SHANK1_ENST00000391814.1_Missense_Mutation_p.S2026L|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1405L|SHANK1_ENST00000359082.3_Missense_Mutation_p.S2009L|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2018					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)		GGGCAGGGACGAGGGCCTGGG	0.721000													8	6					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50123853	50123853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50123853G>A	ENST00000281631.5	+	20	2211	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PARP8_ENST00000505554.1_Missense_Mutation_p.A664T|PARP8_ENST00000514342.2_Missense_Mutation_p.A396T|PARP8_ENST00000514067.2_Missense_Mutation_p.A643T|PARP8_ENST00000505697.2_Missense_Mutation_p.A685T|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.A643T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	685	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATTTTAGAGCTGCTAAAAA	0.398000													76	59					0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57232422	57232422	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:57232422G>A	ENST00000295934.3	-	3	492	c.456C>T	c.(454-456)atC>atT	p.I152I	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		AAATTACCTGGATTCTGTCTT	0.279000													8	22					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586245	82586245	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82586245C>T	ENST00000423517.2	-	5	4361	c.4024G>A	c.(4024-4026)Gaa>Aaa	p.E1342K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1342K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1273					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						TTGTCATCTTCCTTTTCCTAA	0.413000													15	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063915	9063915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:9063915G>A	ENST00000397910.4	-	3	23734	c.23531C>T	c.(23530-23532)tCa>tTa	p.S7844L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7846	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						CTTGGTGCCTGAGCTGGTCCC	0.562000													12	21					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211299265	211299265	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:211299265G>A	ENST00000443314.1	-	9	1488	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LANCL1_ENST00000431941.2_Silent_p.F382F|LANCL1_ENST00000441020.3_Silent_p.F382F|LANCL1_ENST00000450366.2_Silent_p.F382F|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Silent_p.F382F			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	382						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGTCAGCCAGGAAATATATTG	0.433000													33	45					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39500170	39500170	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:39500170T>G	ENST00000518318.2	+	9	1469	c.1427T>G	c.(1426-1428)gTg>gGg	p.V476G	POU6F2_ENST00000403058.1_Missense_Mutation_p.V476G|POU6F2_ENST00000559001.1_Missense_Mutation_p.V421G			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	476	POU-specific.				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						GCGGGTGAGGTGGATGGGGTT	0.478000													21	33					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84292059	84292059	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84292059G>A	ENST00000428679.2	-	23	2624	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	SNAP91_ENST00000521743.1_Silent_p.F677F|SNAP91_ENST00000437520.1_Silent_p.F370F|SNAP91_ENST00000520302.1_Silent_p.F647F|SNAP91_ENST00000521485.1_Silent_p.F677F|SNAP91_ENST00000520213.1_Silent_p.F370F|SNAP91_ENST00000439399.2_Silent_p.F677F|SNAP91_ENST00000369694.2_Silent_p.F677F|SNAP91_ENST00000195649.6_Silent_p.F677F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	677					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418000													4	10					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165793867	165793867	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:165793867G>A	ENST00000303735.4	-	5	706	c.376C>T	c.(376-378)Cca>Tca	p.P126S	SLC38A11_ENST00000409058.1_Missense_Mutation_p.P179S|SLC38A11_ENST00000409662.1_Missense_Mutation_p.P148S|SLC38A11_ENST00000409149.3_Missense_Mutation_p.P148S|SLC38A11_ENST00000493887.1_5'UTR	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	148					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TACATGTGTGGACCCAGTGAA	0.358000													61	51					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134346612	134346612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:134346612C>T	ENST00000508956.1	-	4	380	c.323G>A	c.(322-324)gGg>gAg	p.G108E	KY_ENST00000503669.1_Missense_Mutation_p.G129E|KY_ENST00000508041.1_5'UTR|KY_ENST00000423778.2_Missense_Mutation_p.G129E			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	129						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCATCTTTCCCTCCAGGTTG	0.418000													12	20					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176686	41176686	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:41176686C>G	ENST00000263413.3	-	8	1323	c.1059G>C	c.(1057-1059)ttG>ttC	p.L353F	C6_ENST00000337836.5_Missense_Mutation_p.L353F|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	353	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCGGCTGTACAAAGCAGAGT	0.423000													21	159					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956603	34956603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:34956603C>T	ENST00000251312.5	+	7	966	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	DHRS11_ENST00000590554.1_Nonsense_Mutation_p.Q173*	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	252						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TGGAGACATCCAGATGAGGCC	0.612000													21	31					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237886483	237886483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:237886483G>A	ENST00000366574.2	+	74	10927	c.10610G>A	c.(10609-10611)aGg>aAg	p.R3537K	RYR2_ENST00000542537.1_Missense_Mutation_p.R3521K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3535K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3537					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACCAAACAGGACTGATGAT	0.398000													38	113					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65629508	65629508	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:65629508G>A	ENST00000308110.4	+	4	791	c.442G>A	c.(442-444)Gag>Aag	p.E148K	MUS81_ENST00000533035.1_Missense_Mutation_p.E73K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	148	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCTCTACCGGGAGCACCTGGT	0.652000								Homologous recombination					6	6					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079811	29079811	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:29079811C>T	ENST00000377169.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ACCTGTTCATCATCATCCTGT	0.413000													144	175					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685728	248685728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:248685728C>T	ENST00000343414.4	+	1	813	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGTACCTTCAACCGGCCAA	0.443000													68	57					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349844	134349844	+	Silent	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:134349844G>T	ENST00000275230.5	-	2	1274	c.1119C>A	c.(1117-1119)acC>acA	p.T373T		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	373						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGCAGATATGGGTGAAGTTCA	0.468000													14	37					1.05317e-09	1.06979e-09	1	1	0
FANCM	57697	broad.mit.edu	37	14	45645572	45645572	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:45645572T>A	ENST00000267430.5	+	14	3700	c.3615T>A	c.(3613-3615)gaT>gaA	p.D1205E	FANCM_ENST00000542564.2_Missense_Mutation_p.D1179E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1205					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATCTCGTGATCAGAGAGGTG	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	26					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158613207	158613207	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:158613207C>T	ENST00000368148.3	-	31	4527	c.4347G>A	c.(4345-4347)aaG>aaA	p.K1449K	SPTA1_ENST00000368147.3_Silent_p.K1449K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1449					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)					GGTCAGTGATCTTCCCTTCCT	0.463000													19	68					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785232	26785232	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:26785232G>A	ENST00000376236.4	+	4	527		c.e4-1		APBB1IP_ENST00000356785.4_Splice_Site	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein						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						TTTTTTCACAGAGTTTAGGAG	0.378000													21	56					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123631465	123631465	+	Silent	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:123631465G>C	ENST00000373896.3	-	6	861	c.609C>G	c.(607-609)ccC>ccG	p.P203P		NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTACTCTCCGGGCCCGCCGC	0.682000													3	11					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312338	40312338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:40312338G>A	ENST00000264661.3	-	16	3106	c.2774C>T	c.(2773-2775)cCa>cTa	p.P925L	KCNH4_ENST00000607371.1_Missense_Mutation_p.P925L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	925					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGAGGGTCTGGGGTCCAAGC	0.647000													9	53					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889962	150889962	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:150889962C>T	ENST00000370350.3	+	3	415	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	110						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATACGTTTCCATTATGATC	0.602000													24	10					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899812	129899812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:129899812C>T	ENST00000368654.3	-	14	9790	c.9415G>A	c.(9415-9417)Gga>Aga	p.G3139R	MKI67_ENST00000368653.3_Missense_Mutation_p.G2779R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3139					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCGGGCTCCATCATCTGGA	0.453000													43	81					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620708	7620708	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:7620708C>T	ENST00000486284.1	+	8	2389	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	GRM7_ENST00000402647.2_Silent_p.I705I|GRM7_ENST00000403881.1_Silent_p.I705I|GRM7_ENST00000357716.4_Silent_p.I705I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.I705I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	705					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACTGGCAATCACTTCCAGTT	0.418000													14	39					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146757056	146757056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:146757056C>T	ENST00000369258.4	+	17	1930	c.1910C>T	c.(1909-1911)cCa>cTa	p.P637L	CHD1L_ENST00000369259.3_Missense_Mutation_p.P433L|CHD1L_ENST00000431239.1_Missense_Mutation_p.P543L|CHD1L_ENST00000361293.5_Missense_Mutation_p.P356L|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	637					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GTTCTGAGTCCAGAAGAGCTG	0.493000													48	148					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561243	147561243	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:147561243C>T	ENST00000281321.3	+	2	761	c.513C>T	c.(511-513)caC>caT	p.H171H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	171	Poly-His.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGGGCACGcaccaccaccacc	0.672000													5	48					0	0	1	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029049	153029049	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153029049G>A	ENST00000392653.2	-	2	248	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	55					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.542000													90	281					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306951	162306951	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:162306951T>G	ENST00000306100.5	-	16	2928	c.2492A>C	c.(2491-2493)gAg>gCg	p.E831A	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.E830A|FSTL5_ENST00000536695.1_Missense_Mutation_p.E830A|FSTL5_ENST00000427802.2_Missense_Mutation_p.E821A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	831						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAGTGATCTCACAGTTTAA	0.393000													75	60					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983817	1983817	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:1983817C>T	ENST00000382722.5	-	18	2193	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E547K|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E586K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E611K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E547K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	611						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGTTTCCCTATTGATC	0.473000													13	26					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24761407	24761407	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:24761407C>T	ENST00000288111.7	-	6	913	c.637G>A	c.(637-639)Gat>Aat	p.D213N	DHRS1_ENST00000396813.1_Missense_Mutation_p.D213N|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	213						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AACACAGGATCCTGCAGGACC	0.577000													72	117					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163448	180163448	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:180163448C>T	ENST00000367602.3	+	11	1463	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	QSOX1_ENST00000367600.5_Silent_p.S463S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	463	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGCCTCCATGCACCGGG	0.622000													46	116					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142234334	142234334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:142234334G>A	ENST00000350721.4	-	25	4527	c.4406C>T	c.(4405-4407)aCc>aTc	p.T1469I	ATR_ENST00000383101.3_Missense_Mutation_p.T1405I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1469					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGACCAATCGGTTGACTTCTG	0.328000								Other conserved DNA damage response genes					14	16					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86817483	86817483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:86817483C>T	ENST00000414194.2	+	13	2271	c.479C>T	c.(478-480)tCt>tTt	p.S160F	DMTF1_ENST00000432937.2_Missense_Mutation_p.S338F|DMTF1_ENST00000394703.5_Missense_Mutation_p.S426F|DMTF1_ENST00000331242.7_Missense_Mutation_p.S426F|DMTF1_ENST00000413276.2_Intron			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	426	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AAATCAGGATCTGGAGTTCCA	0.408000													98	107					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12921031	12921031	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:12921031G>A	ENST00000338034.4	-	1	473	c.234C>T	c.(232-234)tcC>tcT	p.S78S	ELAC2_ENST00000395962.2_Intron|ELAC2_ENST00000426905.3_Silent_p.S78S|ELAC2_ENST00000578071.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	78					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTTGAACTCGGAGAAGACGT	0.711000													15	25					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:55933851C>T	ENST00000244728.5	-	22	2481	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000													3	14					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340686	34340686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:34340686C>T	ENST00000257209.4	+	23	4138	c.4016C>T	c.(4015-4017)cCc>cTc	p.P1339L	FHOD3_ENST00000591635.1_Missense_Mutation_p.P535L|FHOD3_ENST00000592128.1_Missense_Mutation_p.P318L|FHOD3_ENST00000445677.1_Missense_Mutation_p.P1301L|FHOD3_ENST00000590592.1_Missense_Mutation_p.P1522L|FHOD3_ENST00000359247.4_Missense_Mutation_p.P1322L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1322					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCTCGTCCCCCTCCGTGGAG	0.677000													17	18					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57301315	57301315	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:57301315G>A	ENST00000391708.3	-	9	944	c.402C>T	c.(400-402)ttC>ttT	p.F134F	ZIM2_ENST00000593711.1_Silent_p.F134F|ZIM2_ENST00000221722.5_Silent_p.F134F|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Silent_p.F134F|ZIM2_ENST00000599935.1_Silent_p.F134F	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTGAGCAAGGAAACCTAGAA	0.532000													12	21					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427388	5427388	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:5427388G>A	ENST00000399537.4	-	5	2415	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	TNRC18_ENST00000430969.1_Silent_p.A689A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	689							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTTCTGCCGGGCCACAGCCA	0.672000													30	66					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161962	41161962	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:41161962C>T	ENST00000263413.3	-	10	1556		c.e10-1		C6_ENST00000337836.5_Splice_Site|C6_ENST00000475349.1_Splice_Site	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6						complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATAAATGAACCTGCAAGGTGT	0.393000													59	35					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25179971	25179971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:25179971C>T	ENST00000264711.2	-	5	658	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	DNAJC27_ENST00000534855.1_Missense_Mutation_p.G86R	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	157					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TACAGGAACCCTTTGCTTTCA	0.433000													33	47					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542157	55542157	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:55542157C>T	ENST00000220676.1	+	4	5863	c.5715C>T	c.(5713-5715)gaC>gaT	p.D1905D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1905					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGAAGCTGACTCTTTGGATA	0.408000													128	83					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84799080	84799080	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84799080C>T	ENST00000257776.4	+	4	633	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	166					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTTGACATCCCCAACTTTG	0.502000													39	60					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351324	10351324	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:10351324C>T	ENST00000255381.2	-	34	4886	c.4776G>A	c.(4774-4776)agG>agA	p.R1592R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1592					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGATGGTTCCTCTTTAGCT	0.423000													63	85					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866849	70866849	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:70866849C>T	ENST00000393567.2	-	80	13951	c.13801G>A	c.(13801-13803)Gag>Aag	p.E4601K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4601										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAGGCTCTCCTTTCCCACC	0.498000													17	20					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704603	189704603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:189704603C>T	ENST00000319332.5	-	6	1359	c.1162G>A	c.(1162-1164)Ggt>Agt	p.G388S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G207S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	388					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AACCCCAGACCTTCTGCAGCT	0.343000													59	113					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379193	32379193	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:32379193A>C	ENST00000375200.1	+	15	2800	c.2435A>C	c.(2434-2436)gAa>gCa	p.E812A	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.E805A|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGGGCGCGGAAACTGAGCTG	0.706000													34	99					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121431498	121431498	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:121431498G>A	ENST00000257555.6	+	3	928	c.702G>A	c.(700-702)gaG>gaA	p.E234E	HNF1A_ENST00000544413.1_Silent_p.E234E|HNF1A_ENST00000402929.1_Silent_p.E234E|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.E234E|HNF1A_ENST00000543427.1_Silent_p.E117E|HNF1A_ENST00000541395.1_Silent_p.E234E			P20823	HNF1A_HUMAN	HNF1 homeobox A	234					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTAGTGGAGGAGTGCAATA	0.587000									Hepatic Adenoma, Familial Clustering of				17	34					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088438	92088438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:92088438G>A	ENST00000298047.6	+	1	3177	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	FAT3_ENST00000525166.1_Missense_Mutation_p.E904K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1054K|FAT3_ENST00000541502.1_Missense_Mutation_p.E1054K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1054	Cadherin 10.				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)				ATCTGTAAAGGAAAACTCACG	0.493000										TCGA Ovarian(4;0.039)			21	40					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10804012	10804012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:10804012C>T	ENST00000313243.2	-	7	986	c.604G>A	c.(604-606)Ggg>Agg	p.G202R	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.G202R|MAK_ENST00000474039.1_Missense_Mutation_p.G202R|MAK_ENST00000354489.2_Missense_Mutation_p.G202R|MAK_ENST00000538030.1_Missense_Mutation_p.G202R|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	202	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCACTTGTCCCTGGGAAAAGT	0.378000													67	60					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58303433	58303433	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:58303433T>A	ENST00000300896.4	-	13	1593	c.1399A>T	c.(1399-1401)Act>Tct	p.T467S	USP32_ENST00000592339.1_Missense_Mutation_p.T137S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	467	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGATGCAGTAGAAATGTTG	0.433000													32	85					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867716	6867716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:6867716C>T	ENST00000299454.4	+	1	834	c.803C>T	c.(802-804)tCt>tTt	p.S268F	OR10A5_ENST00000379831.2_Missense_Mutation_p.S272F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAAATAATTCTCCTGAGAGC	0.418000													63	107					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								4	24					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95721211	95721211	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:95721211G>A	ENST00000480546.1	-	0	86					NR_002319.2																						CGGGATCAACGGAGAAAAACC	0.602000													26	42					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37271915	37271915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:37271915C>T	ENST00000397147.4	+	8	1032	c.848C>T	c.(847-849)tCc>tTc	p.S283F	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGGTCCCTCTCCCACTCCAAA	0.617000													44	69					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537435	31537435	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:31537435G>T	ENST00000261592.5	-	8	1580	c.1283C>A	c.(1282-1284)cCa>cAa	p.P428Q	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.P143Q|NOL4_ENST00000538587.1_Missense_Mutation_p.P354Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	428						nucleolus	RNA binding	p.P428Q(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTAGAGATTGGGACCATTCG	0.478000													13	27					7.93312e-07	8.02378e-07	1	1	0
REPS2	9185	broad.mit.edu	37	X	16965205	16965205	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:16965205C>A	ENST00000357277.3	+	1	392	c.221C>A	c.(220-222)cCc>cAc	p.P74H	REPS2_ENST00000303843.7_Missense_Mutation_p.P74H	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	74	Ala-rich.|EH 1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCCGCCGGCCCCGTGGCTGAC	0.781000													2	2					1	1	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155324369	155324369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:155324369G>A	ENST00000368346.3	-	16	7762	c.7123C>T	c.(7123-7125)Cgt>Tgt	p.R2375C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2370C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2375					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2370C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTTTTTGACGAATCTTCTCC	0.373000													82	189					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70513779	70513779	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:70513779A>G	ENST00000265872.6	+	11	1408	c.1289A>G	c.(1288-1290)gAa>gGa	p.E430G	CCAR1_ENST00000543719.1_Missense_Mutation_p.E415G|CCAR1_ENST00000535016.1_Missense_Mutation_p.E415G	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAGTCCTTAGAAAAAAATATG	0.383000													36	51					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76446418	76446418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:76446418G>A	ENST00000389840.5	-	68	11040	c.10916C>T	c.(10915-10917)cCg>cTg	p.P3639L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.P3648L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCCGCAGCCGGGCGGTAGTT	0.522000													12	24					0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49029590	49029590	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:49029590C>T	ENST00000376327.5	+	2	286	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	PLP2_ENST00000376322.3_Silent_p.L71L	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	71	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CATGTGTGACCTGCACACCAA	0.527000													27	8					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222287	83222287	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:83222287G>A	ENST00000562833.1	-	3	196	c.197C>T	c.(196-198)tCc>tTc	p.S66F	CPEB1_ENST00000562019.1_Silent_p.F331F|CPEB1_ENST00000450751.2_Silent_p.F256F|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.F256F|CPEB1_ENST00000564522.1_Silent_p.F256F|CPEB1_ENST00000423133.2_Silent_p.F256F|CPEB1_ENST00000398591.2_Silent_p.F256F|CPEB1_ENST00000398592.2_Silent_p.F105F|CPEB1_ENST00000261723.6_Silent_p.F334F|CPEB1_ENST00000568128.1_Silent_p.F331F|CPEB1_ENST00000563800.1_Silent_p.F358F																							CAAAAACACGGAAGGTGTTAA	0.458000													51	24					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7997585	7997585	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:7997585C>A	ENST00000270538.3	-	9	1182	c.914G>T	c.(913-915)cGg>cTg	p.R305L		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	305					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.R305Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGGGTCCACCCGGAGGATCTC	0.652000													3	77					1	1	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141600839	141600839	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:141600839G>A	ENST00000442267.2	-	4	593	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	173	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCTGACGGGGGACCTTCCCCT	0.423000													27	21					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784668	82784668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82784668G>A	ENST00000423517.2	-	2	1626	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L	PCLO_ENST00000333891.8_Missense_Mutation_p.P430L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	381	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCTTAGCTGGAGACTGTAG	0.582000													90	172					0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624875	6624875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:6624875C>T	ENST00000396706.2	+	7	1168	c.725C>T	c.(724-726)aCg>aTg	p.T242M	ZDHHC4_ENST00000396707.2_Missense_Mutation_p.T242M|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.T242M|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.T242M|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.T242M|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.T242M|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	242						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTTATGGACACGGTCTTTCTT	0.403000													31	49					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152474902	152474902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:152474902C>T	ENST00000427231.2	-	74	11165	c.10963G>A	c.(10963-10965)Gaa>Aaa	p.E3655K	NEB_ENST00000172853.10_Missense_Mutation_p.E3412K|NEB_ENST00000409198.1_Missense_Mutation_p.E3412K|NEB_ENST00000397345.3_Missense_Mutation_p.E3655K|NEB_ENST00000604864.1_Missense_Mutation_p.E3655K|NEB_ENST00000603639.1_Missense_Mutation_p.E3655K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3655					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)		CTAAGTAATTCTCCAGCTCTC	0.443000													25	61					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367786.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367788.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													15	47					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379437	121379437	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:121379437G>A	ENST00000297848.3	+	46	5375	c.5105G>A	c.(5104-5106)gGa>gAa	p.G1702E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1607E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1702E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1702	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGAGAAAAAGGAAATCCAGGC	0.353000													20	30					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042770	193042770	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:193042770C>T	ENST00000342358.4	-	14	1674	c.1557G>A	c.(1555-1557)caG>caA	p.Q519Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	519					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)		ATGGCACAGCCTGGCCTGAGG	0.502000													26	55					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52937374	52937374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:52937374C>T	ENST00000281741.4	-	15	1708	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	446	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACAGTTTATTCTAGTAAGAAG	0.318000													26	49					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113220765	113220765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:113220765C>T	ENST00000401783.2	-	20	3898	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1188K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1165K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1188					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCTGATTTCATGCCTCTTT	0.398000													8	17					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563195	51563195	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51563195G>A	ENST00000595793.1	-	3	437	c.395C>T	c.(394-396)tCc>tTc	p.S132F	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.S132F	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	132	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTGGACCGGGGACTGCAGCTC	0.612000													34	79					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730175	141730175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:141730175C>T	ENST00000475668.2	+	11	1289	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	MGAM_ENST00000549489.2_Missense_Mutation_p.A412V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	412	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTCAGCATGCTGATATTGAT	0.338000													22	18					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168620526	168620526	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:168620526G>A	ENST00000519560.1	-	4	789	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	SLIT3_ENST00000404867.3_Missense_Mutation_p.L124F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L124F|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	124					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTCTGGAAGGACTTGCAGC	0.473000													71	17					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	319838	319838	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:319838C>T	ENST00000399808.4	-	2	638	c.402G>A	c.(400-402)taG>taA	p.*134*	IFITM3_ENST00000602735.1_Silent_p.*113*|IFITM3_ENST00000526811.1_Silent_p.*113*|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	0					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCTCCTGATCTATCCATAGG	0.577000													25	57					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904239	88904239	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:88904239G>A	ENST00000556553.1	+	12	1736	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	SPATA7_ENST00000393545.4_Missense_Mutation_p.E425K|SPATA7_ENST00000045347.7_Missense_Mutation_p.E425K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E393K			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	425					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CACATCGGAGGAAAACTCGGT	0.353000													34	63					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:43762435G>A	ENST00000244293.7	-	4	949	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	PSG9_ENST00000270077.3_Missense_Mutation_p.H388Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H202Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H202Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H295Y|PSG9_ENST00000593948.1_Missense_Mutation_p.H295Y|PSG9_ENST00000418820.2_Missense_Mutation_p.H295Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	304	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCGCTATGATTTCTAGTA	0.443000													109	142					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48149423	48149423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:48149423G>A	ENST00000311303.3	-	13	2237	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	ABCC12_ENST00000448542.1_Missense_Mutation_p.S631L|ABCC12_ENST00000416054.1_Missense_Mutation_p.R607W	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	631	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTCCACGGCCGACAGGGGGTC	0.637000													51	51					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038055	16038055	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:16038055C>T	ENST00000326742.7	-	4	493	c.492G>A	c.(490-492)atG>atA	p.M164I	CYP4F11_ENST00000248041.7_Missense_Mutation_p.M164I|CYP4F11_ENST00000402119.3_Missense_Mutation_p.M164I			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	164					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGAAAATCTTCATATAAGGCT	0.542000													25	37					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684090	6684090	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:6684090C>T	ENST00000321535.4	+	2	1033	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	301										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGGCCCGAATCCTCTTGCAGG	0.527000													20	24					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736882	113736882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:113736882G>A	ENST00000259205.4	+	3	209	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	IL36G_ENST00000376489.2_Intron	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	47					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCAGTTCCACGAAGTGACAGT	0.493000													21	52					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947384	144947384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:144947384C>T	ENST00000525985.1	-	2	109	c.38G>A	c.(37-39)gGc>gAc	p.G13D				P58107	EPIPL_HUMAN	epiplakin 1	13						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTTGGTGCCTGGGACGGG	0.657000													22	53					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173622	49173622	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:49173622G>A	ENST00000270235.4	-	2	717	c.622C>T	c.(622-624)Cct>Tct	p.P208S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	208	Laminin EGF-like 1.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CGTAGGCAAGGGTGGGGGTGC	0.697000													4	0					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346950	140346950	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140346950T>G	ENST00000289269.5	+	1	1131	c.599T>G	c.(598-600)cTg>cGg	p.L200R	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		200	Cadherin 2.				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)			CTTAAGCCCCTGCAGGAGAAC	0.612000													14	3					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104747620	104747620	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:104747620C>T	ENST00000334877.4	+	21	3389	c.2855C>T	c.(2854-2856)tCt>tTt	p.S952F	KMT2E_ENST00000334914.7_Missense_Mutation_p.S7F|KMT2E_ENST00000311117.3_Missense_Mutation_p.S952F|KMT2E_ENST00000257745.4_Missense_Mutation_p.S952F					lysine (K)-specific methyltransferase 2E									p.S952Y(1)									CAGAATATTTCTTCCCCAGAA	0.254000													53	54					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886423	29886423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:29886423G>A	ENST00000310624.6	+	4	2827	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	938	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGAAGGAACCAGATGA	0.522000													8	14					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116804	31116804	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:31116804T>C	ENST00000261177.9	+	3	187	c.128T>C	c.(127-129)gTg>gCg	p.V43A	TSPAN11_ENST00000546076.1_Missense_Mutation_p.V43A|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V33A|TSPAN11_ENST00000535215.1_5'UTR	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	43						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGACCCTGGTGGAGAAGAGT	0.657000													9	100					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	70					3.59834e-05	3.62909e-05	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79385976	79385976	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:79385976G>A	ENST00000370742.3	-	10	1416	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTCACTGAAGAACCAGAAGG	0.323000													31	60					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882614	51882614	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:51882614C>T	ENST00000453097.2	+	18	2635	c.2418C>T	c.(2416-2418)gtC>gtT	p.V806V	SLC4A8_ENST00000358657.3_Silent_p.V833V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	806					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCACAGCCGTCATTATTAACA	0.433000													25	50					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114832645	114832645	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:114832645C>T	ENST00000310346.4	-	6	1230	c.564G>A	c.(562-564)gcG>gcA	p.A188A	TBX5_ENST00000349716.5_Silent_p.A138A|TBX5_ENST00000526441.1_Silent_p.A188A|TBX5_ENST00000405440.2_Silent_p.A188A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	188					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TATTTTCATCCGCTTTCACGA	0.368000													82	176					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6007048	6007048	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:6007048G>A	ENST00000303657.5	-	12	1526	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.I459I|RFX2_ENST00000592546.1_Silent_p.I434I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCACGTCGGGGATGAGAATCT	0.612000													24	40					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89326027	89326027	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:89326027G>A	ENST00000380265.5	+	9	1275		c.e9-1		HERC6_ENST00000264346.7_Splice_Site	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTCCCTGAAGGATACTAGTT	0.453000													9	63					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131150	38131150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:38131150G>A	ENST00000406386.3	+	9	5062	c.4807G>A	c.(4807-4809)Gat>Aat	p.D1603N	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1603					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGACACAGGGATGACCTGGC	0.682000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	34					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748290	43748290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:43748290G>A	ENST00000263801.3	-	12	2753	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S839F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S839F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S839F|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	834					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAAAGGTAAGGAAGGCTGTGA	0.418000								Other conserved DNA damage response genes					53	65					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735237	55735237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55735237G>A	ENST00000312345.2	-	1	753	c.703C>T	c.(703-705)Cac>Tac	p.H235Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACTATTAGGTGAGATGAGCAG	0.378000													15	16					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743404	16743404	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:16743404C>T	ENST00000381323.3	-	6	524	c.304G>A	c.(304-306)Gct>Act	p.A102T	FAM49A_ENST00000406434.1_Missense_Mutation_p.A102T|FAM49A_ENST00000355549.2_Missense_Mutation_p.A102T	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	102						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCTGAAGAGCTTTTTCTGAA	0.453000													28	30					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867541	107867541	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:107867541G>A	ENST00000370067.1	+	3	1511	c.884G>A	c.(883-885)gGa>gAa	p.G295E	NTNG1_ENST00000542803.1_Missense_Mutation_p.G295E|NTNG1_ENST00000370073.2_Missense_Mutation_p.G295E|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Missense_Mutation_p.G295E|NTNG1_ENST00000370070.2_Missense_Mutation_p.G295E|NTNG1_ENST00000370071.2_Missense_Mutation_p.G295E|NTNG1_ENST00000370066.1_Missense_Mutation_p.G295E|NTNG1_ENST00000370061.3_Missense_Mutation_p.G295E|NTNG1_ENST00000370068.1_Missense_Mutation_p.G295E|NTNG1_ENST00000370074.4_Missense_Mutation_p.G295E|NTNG1_ENST00000370065.1_Missense_Mutation_p.G295E			Q9Y2I2	NTNG1_HUMAN	netrin G1	295	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGGTGCGAGGAAGGTAAGAG	0.448000													38	69					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671623	131671623	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:131671623C>T	ENST00000200652.3	+	8	1548	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	458					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGGTCAGGAACATGGCGGTGG	0.527000													23	363					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152786573	152786573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:152786573C>T	ENST00000367255.5	-	18	2353	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	SYNE1_ENST00000495090.2_Missense_Mutation_p.M151I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M591I|SYNE1_ENST00000413186.2_Missense_Mutation_p.M584I|SYNE1_ENST00000466159.2_Missense_Mutation_p.M584I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M584I|SYNE1_ENST00000367248.3_Missense_Mutation_p.M574I|SYNE1_ENST00000367253.4_Missense_Mutation_p.M584I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M591I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M591I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	584					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)		TCATGAATTTCATCACATTCT	0.393000										HNSCC(10;0.0054)			11	18					0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118851424	118851424	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:118851424G>T	ENST00000317011.3	+	5	1061	c.836G>T	c.(835-837)tGc>tTc	p.C279F		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	279					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		ATCCAACAGTGCATGAGCCAG	0.607000													10	5					0.010729	0.0107594	1	1	0
AGAP7	653268	broad.mit.edu	37	10	51464852	51464852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:51464852G>A	ENST00000374095.5	-	7	1729	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTCCCTCGTGGACTTTTCTGT	0.552000													34	73					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18895837	18895837	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:18895837C>T	ENST00000542601.2	-	15	2073	c.1684G>A	c.(1684-1686)Gac>Aac	p.D562N	COMP_ENST00000425807.1_Missense_Mutation_p.D542N|COMP_ENST00000222271.2_Missense_Mutation_p.D595N			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	595	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCGCATAGTCGTCATCCGTG	0.552000													40	77					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215708	20215708	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:20215708G>A	ENST00000331723.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTCCTGGGAAACCTCTTG	0.398000													62	114					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62197555	62197555	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:62197555T>C	ENST00000467148.1	-	8	2689	c.2620A>G	c.(2620-2622)Act>Gct	p.T874A	HELZ2_ENST00000427522.2_Missense_Mutation_p.T305A	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGTGCACAGTGCTGAGCACC	0.701000													3	13					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21115411	21115411	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:21115411C>T	ENST00000377122.4	-	18	2230	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	612					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						TTCACTCGTTCGATCTCTGGG	0.323000													33	88					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50943359	50943359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50943359C>T	ENST00000374103.4	-	23	3033	c.2948G>A	c.(2947-2949)gGa>gAa	p.G983E	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.G774E|OGDHL_ENST00000419399.1_Missense_Mutation_p.G926E	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	983					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTTCCTGTTTCCTGTGGCTGG	0.582000													43	60					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757427	75757427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:75757427G>A	ENST00000274364.6	+	2	376	c.79G>A	c.(79-81)Gag>Aag	p.E27K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	27					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTCTGCAGAGGAGATGGATGA	0.418000													30	193					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505802	228505802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:228505802G>A	ENST00000570156.2	+	64	17004	c.16930G>A	c.(16930-16932)Gca>Aca	p.A5644T	OBSCN_ENST00000422127.1_Missense_Mutation_p.A4687T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1806T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2321T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4687T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4687	SH3.				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)				GGGCTTCACGGCAGAAGACCA	0.642000													39	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414578	179414578	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179414578A>T	ENST00000589042.1	-	338	92095	c.91871T>A	c.(91870-91872)gTt>gAt	p.V30624D	TTN_ENST00000342992.6_Missense_Mutation_p.V28056D|TTN_ENST00000342175.6_Missense_Mutation_p.V21751D|TTN_ENST00000359218.5_Missense_Mutation_p.V21684D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21559D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V28983D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28983	Fibronectin type-III 123.						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)			TATTGGCCCAACTACTTTTCC	0.398000													36	38					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696590	69696590	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:69696590G>A	ENST00000265403.7	+	6	1607	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R443K	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	527					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGGAAAAAGGGATTAGTTA	0.378000													51	28					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	62					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976306	131976306	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:131976306G>A	ENST00000356920.5	+	1	425	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G111R|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	111							ATP binding										CTGCTGCAGGGGGAGCGGCAA	0.602000													42	39					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898371	127898371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:127898371C>T	ENST00000329722.7	+	1	53	c.41C>T	c.(40-42)tCc>tTc	p.S14F	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	14						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTAGTTGGTTCCTTTTCTGCT	0.512000													34	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282785	152282785	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152282785C>T	ENST00000368799.1	-	3	4612	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGGTGT	0.572000									Ichthyosis				155	474					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24356778	24356778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:24356778G>A	ENST00000175238.6	+	17	1955	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.M624I|ADAM7_ENST00000520720.1_Missense_Mutation_p.M396I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	624	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTCTAAACATGGAAAAGGTCT	0.323000													18	84					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31529469	31529469	+	Splice_Site	SNP	G	G	C	rs5997883		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:31529469G>C	ENST00000331075.5	+	11	2458	c.2409_splice	c.e11+1	p.Q803_splice	INPP5J_ENST00000405300.1_Splice_Site_p.Q436_splice|INPP5J_ENST00000412277.2_Splice_Site_p.Q736_splice|INPP5J_ENST00000401755.1_Splice_Site_p.Q168_splice|INPP5J_ENST00000404453.1_Splice_Site_p.Q168_splice|INPP5J_ENST00000400294.2_Splice_Site_p.Q436_splice|INPP5J_ENST00000402238.1_Intron|INPP5J_ENST00000404390.3_Splice_Site_p.Q435_splice			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	803	Required for ruffle localization (By similarity).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						ATACCTACCAGGTACTTAAAA	0.537000													24	26					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004396	13004396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:13004396C>T	ENST00000222214.5	+	6	645	c.434C>T	c.(433-435)tCc>tTc	p.S145F	GCDH_ENST00000591470.1_Missense_Mutation_p.S145F|GCDH_ENST00000457854.1_Missense_Mutation_p.S145F|GCDH_ENST00000422947.2_Missense_Mutation_p.S101F			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	145					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGTGTCCAGTCCTCCCTCGTC	0.632000													56	105					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987437	123987437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:123987437G>T	ENST00000369005.1	+	14	8150	c.7810G>T	c.(7810-7812)Gag>Tag	p.E2604*	TACC2_ENST00000358010.1_Nonsense_Mutation_p.E750*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.E750*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.E304*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.E694*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.E682*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.E694*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.E2559*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.E682*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.E2608*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.E308*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.E2604*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.E2608*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2604						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCTAACCAAGAGTCACACTT	0.537000													7	112					0.000442599	0.000444483	1	1	0
ANK3	288	broad.mit.edu	37	10	61829989	61829989	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61829989C>T	ENST00000280772.1	-	37	10841	c.10650G>A	c.(10648-10650)ggG>ggA	p.G3550G	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3550					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						CTTCATCATCCCCTCGGTTAT	0.428000													13	35					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68749553	68749553	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:68749553C>T	ENST00000252338.4	+	3	1215	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	392						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						actcctatttccaccactacc	0.592000													13	1					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091546	11091546	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:11091546A>C	ENST00000537503.1	-	1	316	c.261T>G	c.(259-261)aaT>aaG	p.N87K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	87					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTGTCCAGATATTAGTAAGCA	0.368000													13	26					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444071	23444071	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:23444071C>A	ENST00000262713.2	-	6	1774	c.1399G>T	c.(1399-1401)Ggc>Tgc	p.G467C	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.G467C|AJUBA_ENST00000397388.3_Missense_Mutation_p.G50C	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	467	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ATGGGTTGGCCACAGGCTGCA	0.577000													40	61					2.9001e-28	2.98441e-28	1	1	0
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:100684421C>T	ENST00000306151.4	+	3	9788	c.9724C>T	c.(9724-9726)Ctt>Ttt	p.L3242F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3242	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCTAGCATCCTTTCAACAAC	0.502000													284	481					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305590	46305590	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:46305590C>T	ENST00000510861.1	-	8	916	c.743G>A	c.(742-744)aGa>aAa	p.R248K	GABRA2_ENST00000381620.4_Missense_Mutation_p.R248K|GABRA2_ENST00000515082.1_Missense_Mutation_p.R248K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R248K|GABRA2_ENST00000540012.1_Missense_Mutation_p.R193K|GABRA2_ENST00000507069.1_Missense_Mutation_p.R248K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R248K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	248					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCAATTTTTCTTTTCAGGTG	0.363000													31	36					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128887561	128887561	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:128887561G>A	ENST00000274487.4	+	7	1460	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	439	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCTAGGAAAGATTTCTGTGT	0.289000													6	27					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515394	54515394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:54515394C>T	ENST00000252729.2	+	4	1324	c.734C>T	c.(733-735)tCc>tTc	p.S245F	CACNG6_ENST00000352529.1_Missense_Mutation_p.S174F|CACNG6_ENST00000346968.2_Missense_Mutation_p.S199F	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	245						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ACACTGCCTTCCTGGCCCTGG	0.672000													24	40					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910511	38910511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:38910511G>A	ENST00000454404.2	-	6	865	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.Q204*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.Q218*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.Q218*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.Q218*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.Q218*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.Q218*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	218	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGATAGCCTGGAAGGACCGG	0.622000													3	10					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676217	62676217	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:62676217G>A	ENST00000498273.1	+	4	2066	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	591										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAAACAGAAGAAAAGAAACA	0.358000													6	19					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657732	72657732	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:72657732G>A	ENST00000425256.1	-	0	2179					NR_002164.1																						ttcagggtgggaaagtgggcc	0.483000													138	176					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478995	179478995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179478995C>T	ENST00000589042.1	-	262	49353	c.49129G>A	c.(49129-49131)Gat>Aat	p.D16377N	TTN_ENST00000342992.6_Missense_Mutation_p.D13809N|TTN_ENST00000342175.6_Missense_Mutation_p.D7504N|TTN_ENST00000359218.5_Missense_Mutation_p.D7437N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7312N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14736N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14736	Ig-like 100.						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)			CCACCATCATCGCGTGGTGGG	0.458000													34	33					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50137844	50137844	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50137844A>G	ENST00000281631.5	+	26	2665	c.2507A>G	c.(2506-2508)gAa>gGa	p.E836G	PARP8_ENST00000505554.1_Missense_Mutation_p.E815G|PARP8_ENST00000514067.2_Missense_Mutation_p.E794G|PARP8_ENST00000505697.2_Missense_Mutation_p.E836G|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.E794G	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	836	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATACACAAGAAGGAGGCATT	0.353000													96	55					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126667027	126667027	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:126667027G>A	ENST00000274473.6	+	3	294	c.27G>A	c.(25-27)ctG>ctA	p.L9L	MEGF10_ENST00000508365.1_Silent_p.L9L|MEGF10_ENST00000418761.2_Silent_p.L9L|MEGF10_ENST00000503335.2_Silent_p.L9L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	9	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTCATGCCTGAGCTTTATTT	0.363000													47	162					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280779	17280779	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:17280779G>A	ENST00000331428.5	-	3	573	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	157						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCTGCATGAAATTATCCC	0.398000													134	126					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52284631	52284631	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:52284631C>T	ENST00000356297.4	-	19	3803	c.3703G>A	c.(3703-3705)Gaa>Aaa	p.E1235K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E1235K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1235					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)				CCAGGGTTTTCATACCAGAAC	0.502000													7	4					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11645550	11645550	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:11645550G>A	ENST00000262442.3	+	30	6099	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2011K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2011	AAA 1 (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)		GCTGGTGGCAGAAGGATTCAT	0.458000													48	82					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900748	51900748	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:51900748G>A	ENST00000268919.4	+	1	510	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	118					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTTGCGATGATCCCCCAGA	0.607000													48	68					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436157	5436157	+	Missense_Mutation	SNP	G	G	A	rs149499697	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:5436157G>A	ENST00000380419.3	-	4	701	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	TUBAL3_ENST00000479328.1_Missense_Mutation_p.R182C	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	222					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCGAGTTTACGATGGCATATA	0.522000													21	42					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321450	52321450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:52321450C>T	ENST00000356297.4	-	17	2834	c.2734G>A	c.(2734-2736)Gac>Aac	p.D912N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D912N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	912					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)				ACCGAAGGGTCTCTGAGAGCC	0.587000													26	21					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176921	193176921	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:193176921C>T	ENST00000342695.4	-	14	1945	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	ATP13A4_ENST00000392443.3_Silent_p.G522G|ATP13A4_ENST00000295548.3_Silent_p.G541G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	541					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTGGATGGTCCCATCAAGAA	0.547000													32	61					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58996366	58996366	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:58996366G>A	ENST00000371226.3	-	6	1160	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	OMA1_ENST00000358603.2_Silent_p.F349F|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	349					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCATACCTAGGAAATCCAACA	0.368000													17	31					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74834230	74834230	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:74834230G>A	ENST00000290536.5	-	4	663	c.547C>T	c.(547-549)Cta>Tta	p.L183L	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.L183L|M1AP_ENST00000409585.1_Silent_p.L183L	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ACGTGCTCTAGGATTCCCTTT	0.428000													19	65					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427387	5427387	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:5427387G>A	ENST00000399537.4	-	5	2416	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	TNRC18_ENST00000430969.1_Missense_Mutation_p.R690W			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	690							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCTTCTGCCGGGCCACAGCC	0.672000													32	70					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169673786	169673786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:169673786C>T	ENST00000236147.4	-	5	888	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	230	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAAGTTTGTTCCTTCAGAGCA	0.498000													3	7					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75442084	75442084	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:75442084G>A	ENST00000549446.1	-	4	2309	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	KCNC2_ENST00000341669.3_Silent_p.D543D|KCNC2_ENST00000548513.1_Silent_p.D543D|KCNC2_ENST00000393288.2_Silent_p.D543D|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Silent_p.D543D|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000550433.1_Silent_p.D543D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	543					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTGTACTGTCGTCACCTGATA	0.493000													24	28					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976018	2976018	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:2976018G>A	ENST00000602557.1	-	43	6891	c.6336C>T	c.(6334-6336)ttC>ttT	p.F2112F	CSMD1_ENST00000400186.3_Silent_p.F2112F|CSMD1_ENST00000542608.1_Silent_p.F2111F|CSMD1_ENST00000537824.1_Silent_p.F2111F|CSMD1_ENST00000602723.1_Silent_p.F2112F|CSMD1_ENST00000520002.1_Silent_p.F2112F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2112	Sushi 12.					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)		GATAACACTCGAAAGATACTG	0.448000													49	156					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793423	30793423	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:30793423C>T	ENST00000458257.1	+	2	242	c.228C>T	c.(226-228)tcC>tcT	p.S76S	INMT_ENST00000013222.5_Silent_p.S77S|INMT_ENST00000409539.1_Silent_p.S76S|INMT_ENST00000484180.1_3'UTR																							CCTGTGATTCCTTCCAAGACA	0.567000													239	376					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146463845	146463845	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:146463845G>A	ENST00000515385.1	+	4	1312	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SMAD1_ENST00000394092.2_Missense_Mutation_p.R257K|SMAD1_ENST00000302085.4_Missense_Mutation_p.R257K			Q15797	SMAD1_HUMAN	SMAD family member 1	257					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R257K(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAATCAACAGAGGAGGTAAA	0.453000													48	33					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145534130	145534130	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:145534130G>A	ENST00000369304.3	+	14	1810	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	ITGA10_ENST00000538811.1_Silent_p.Q414Q|ITGA10_ENST00000539363.1_Silent_p.Q402Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	545					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCCCCCCAGGATGCTCGGT	0.562000													65	197					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549973	34549973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:34549973G>A	ENST00000354181.3	-	6	1052	c.560C>T	c.(559-561)aCc>aTc	p.T187I	SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000397702.2_Missense_Mutation_p.T128I|SLC12A6_ENST00000397707.2_Missense_Mutation_p.T172I|SLC12A6_ENST00000290209.5_Missense_Mutation_p.T136I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.T178I|SLC12A6_ENST00000558667.1_Missense_Mutation_p.T187I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.T187I|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000458406.2_Missense_Mutation_p.T128I|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	187					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACCCATGAAGGTACCCATTTG	0.398000													10	20					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718043	73718043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:73718043C>T	ENST00000264448.6	+	10	9065	c.8954C>T	c.(8953-8955)cCc>cTc	p.P2985L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2943L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2985					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACCATTTTCCCCTTCCTCAA	0.393000													29	56					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607826	8607826	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:8607826C>A	ENST00000382480.2	+	5	1209	c.409C>A	c.(409-411)Ccc>Acc	p.P137T	CPZ_ENST00000315782.6_Missense_Mutation_p.P263T|CPZ_ENST00000360986.4_Missense_Mutation_p.P274T|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	274	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTTGGTAACCCCCGCATCCA	0.617000													33	65					9.88483e-10	1.00553e-09	1	1	0
RIT2	6014	broad.mit.edu	37	18	40503628	40503628	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:40503628T>C	ENST00000589109.1	-	4	506	c.335A>G	c.(334-336)aAg>aGg	p.K112R	RIT2_ENST00000590910.1_Missense_Mutation_p.S133G|RIT2_ENST00000326695.5_Missense_Mutation_p.K112R|RIT2_ENST00000282028.4_Missense_Mutation_p.K112R	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	112					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTTTAAACTTGGCAGCCTC	0.517000													91	314					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073360	98073360	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:98073360C>T	ENST00000354924.2	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATCTCTGCATCCTTTTGACTG	0.343000													16	33					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153730128	153730128	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153730128C>T	ENST00000456435.1	+	10	1606	c.420C>T	c.(418-420)cgC>cgT	p.R140R	INTS3_ENST00000435409.2_Silent_p.R346R|INTS3_ENST00000512605.1_Silent_p.R140R|INTS3_ENST00000318967.2_Silent_p.R346R|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCTCTGCGCTGTGACCTCA	0.517000													112	73					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905194	37905194	+	Silent	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:37905194T>C	ENST00000316950.6	-	6	923	c.366A>G	c.(364-366)gtA>gtG	p.V122V	ZNF569_ENST00000392149.2_Silent_p.V122V|ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000592490.1_3'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGGAAATACATTTGCAA	0.323000													21	35					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117896389	117896389	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:117896389A>T	ENST00000535237.1	-	4	830	c.601T>A	c.(601-603)Tat>Aat	p.Y201N	GOPC_ENST00000052569.6_Missense_Mutation_p.Y193N|GOPC_ENST00000368498.2_Missense_Mutation_p.Y201N					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CTCGCCCCATATACTTCAGCC	0.388000			O	ROS1	glioblastoma								20	65					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163659	110163659	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:110163659C>T	ENST00000256578.3	+	1	384	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AMPD2_ENST00000528667.1_Silent_p.L8L|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	8					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGGGCCTCTTCCGCCTGC	0.672000													16	38					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365457	7365457	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7365457G>A	ENST00000311403.4	-	4	3183	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	ZBTB4_ENST00000380599.4_Silent_p.L948L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGACCATGTTGAGAGCAACCG	0.602000													129	270					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19956080	19956080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:19956080G>A	ENST00000361682.6	+	6	1019	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	COMT_ENST00000406520.3_Missense_Mutation_p.G213R|COMT_ENST00000449653.1_Missense_Mutation_p.G163R|COMT_ENST00000407537.1_Missense_Mutation_p.G163R|COMT_ENST00000403710.1_Missense_Mutation_p.G213R	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	213					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GCTGCGGAAGGGGACAGTGCT	0.622000													39	45					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527455	33527455	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:33527455C>T	ENST00000504830.1	-	24	4958	c.4623G>A	c.(4621-4623)aaG>aaA	p.K1541K	ADAMTS12_ENST00000352040.3_Silent_p.K1456K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1541	PLAC.				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						ACAGTTTGTCCTTAGTGCAAA	0.428000										HNSCC(64;0.19)			13	103					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59837684	59837684	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:59837684C>T	ENST00000278865.3	+	7	696	c.623C>T	c.(622-624)tCc>tTc	p.S208F	MS4A3_ENST00000358152.2_Missense_Mutation_p.S162F|MS4A3_ENST00000395032.2_Missense_Mutation_p.S85F|MS4A3_ENST00000534744.1_Missense_Mutation_p.S162F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TAGGAAATTTCCTCACCTCCC	0.373000													31	38					0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575233	153575233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:153575233C>T	ENST00000326446.5	+	1	806	c.95C>T	c.(94-96)aCt>aTt	p.T32I		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	32						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TCCTCCTTTACTCAGGGGGAC	0.701000													9	33					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:150217107G>A	ENST00000313543.4	+	2	202	c.45G>A	c.(43-45)ggG>ggA	p.G15G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000													62	67					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940839	21940839	+	Silent	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:21940839T>G	ENST00000328843.6	+	83	13570	c.13539T>G	c.(13537-13539)gtT>gtG	p.V4513V	CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Silent_p.V4506V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4513					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAAATGGGTTCTGGCTGGAG	0.512000									Kartagener syndrome				36	57					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777611	152777611	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152777611C>T	ENST00000368768.1	-	2	394	c.344G>A	c.(343-345)gGa>gAa	p.G115E	LCE1C_ENST00000607093.1_Missense_Mutation_p.G115E	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	115	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCAGCCTCCAGAGTGCTG	0.657000													49	99					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083427	171083427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:171083427G>A	ENST00000367755.4	+	7	1219	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	FMO3_ENST00000538429.1_Missense_Mutation_p.G307S|FMO3_ENST00000542847.1_Missense_Mutation_p.G350S|FMO3_ENST00000392085.2_Missense_Mutation_p.G370S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	370					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGTGATTGGCTTTGTCCA	0.443000													26	74					0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20824282	20824282	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:20824282T>C	ENST00000361443.4	-	3	1337	c.1100A>G	c.(1099-1101)tAc>tGc	p.Y367C	SP8_ENST00000418710.2_Missense_Mutation_p.Y385C	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGTCTTGCCGTACACCTTGCC	0.697000													11	51					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271592	164271592	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:164271592T>A	ENST00000515560.1	+	4	1689	c.167T>A	c.(166-168)tTt>tAt	p.F56Y	NPY5R_ENST00000506953.1_Missense_Mutation_p.F56Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.F56Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	56					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTCTTGGCTTTATGGGGAAT	0.383000													85	49					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801485	185801485	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:185801485C>T	ENST00000302277.6	+	4	1956	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	454						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATCAATTTCCTATAGCTGTA	0.343000													36	36					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483963	43483963	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:43483963G>A	ENST00000395891.1	+	11	1797	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HECW1_ENST00000453890.1_Missense_Mutation_p.E398K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGCTGGGTGAGGGCAGTGT	0.597000													32	54					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917361	87917361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:87917361C>T	ENST00000518476.1	+	3	262	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	71										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAGCAATATCCTAAAGTATT	0.363000													22	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058034	9058034	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:9058034C>T	ENST00000397910.4	-	3	29615	c.29412G>A	c.(29410-29412)gaG>gaA	p.E9804E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9806	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						GATGAATTTTCTCTGTATCTG	0.453000													23	33					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99500479	99500479	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:99500479C>T	ENST00000268035.6	+	21	4523	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.P1303P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1304					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)	AGAGCGTCCCCCTGGACCCCT	0.677000													11	55					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968833	119968833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:119968833G>A	ENST00000327554.2	+	13	1981	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	506										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)		GAGGATTTGGGAACTGTGCTC	0.502000													38	68					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160053	132160053	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:132160053G>A	ENST00000511190.1	-	6	2665	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	USP26_ENST00000406273.1_Silent_p.F732F|USP26_ENST00000370832.1_Silent_p.F732F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	732					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F732F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACACTTTTTGGAATCTTTCTG	0.398000													47	11					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349627	100349627	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:100349627C>T	ENST00000542585.1	+	0	2047				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCACCATTCCCT	0.502000													63	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179592993C>T	ENST00000589042.1	-	67	19782	c.19558G>A	c.(19558-19560)Gaa>Aaa	p.E6520K	TTN_ENST00000342992.6_Missense_Mutation_p.E5276K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6203K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6203	Ig-like 46.						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)			GTAGATATTTCTTTTCCATCC	0.378000													8	30					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65236380	65236380	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:65236380C>T	ENST00000389722.3	-	27	5918	c.5865G>A	c.(5863-5865)cgG>cgA	p.R1955R	SPTB_ENST00000542895.1_Silent_p.R1955R|SPTB_ENST00000389721.5_Silent_p.R1955R|SPTB_ENST00000389720.3_Silent_p.R1955R|SPTB_ENST00000556626.1_Silent_p.R1955R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1955					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)		AGTTCTTGCTCCGGGTTTCAA	0.587000													48	107					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328323	3328323	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:3328323C>T	ENST00000378398.3	+	10	1647	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.S521F|PRDM16_ENST00000514189.1_Missense_Mutation_p.S522F|PRDM16_ENST00000511072.1_Missense_Mutation_p.S522F|PRDM16_ENST00000442529.2_Missense_Mutation_p.S521F|PRDM16_ENST00000441472.2_Missense_Mutation_p.S521F|PRDM16_ENST00000270722.5_Missense_Mutation_p.S521F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	521	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTCCCTCCATCCTTGTACCCC	0.687000			T	EVI1	"""MDS, AML"""								75	127					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26976114	26976114	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:26976114C>T	ENST00000307301.7	-	3	455	c.414G>A	c.(412-414)gtG>gtA	p.V138V	MRPL39_ENST00000352957.4_Silent_p.V138V	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	138						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ATACCTTATTCACTTCTCCTG	0.358000													18	30					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99030132	99030132	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:99030132T>G	ENST00000376586.2	+	6	792	c.456T>G	c.(454-456)aaT>aaG	p.N152K	FARP1_ENST00000595437.1_Missense_Mutation_p.N152K|FARP1_ENST00000319562.6_Missense_Mutation_p.N152K			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	152	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACGTGTAATGACACCAGCG	0.473000													24	68					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762204	71762204	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:71762204C>T	ENST00000258104.3	+	14	1615	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	DYSF_ENST00000409744.1_Silent_p.I447I|DYSF_ENST00000413539.2_Silent_p.I477I|DYSF_ENST00000409582.3_Silent_p.I477I|DYSF_ENST00000429174.2_Silent_p.I446I|DYSF_ENST00000410041.1_Silent_p.I478I|DYSF_ENST00000409762.1_Silent_p.I477I|DYSF_ENST00000409651.1_Silent_p.I478I|DYSF_ENST00000410020.3_Silent_p.I478I|DYSF_ENST00000409366.1_Silent_p.I447I|DYSF_ENST00000394120.2_Silent_p.I447I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	446	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCAGAACATCACACTGCCTG	0.612000													33	31					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				75	102					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431775	31431775	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:31431775C>T	ENST00000414046.2	+	0	847					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						tgtccaattcccctgtggcag	0.537000													20	144					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10413585	10413585	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:10413585C>T	ENST00000397077.1	-	11	2007	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E523K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E509K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E523K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E478K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	523					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCGGGGATCTCTTTATAGTGG	0.547000													54	79					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89154722	89154722	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:89154722A>C	ENST00000554922.1	-	18	2883	c.2635T>G	c.(2635-2637)Ttt>Gtt	p.F879V	EML5_ENST00000352093.5_Intron|EML5_ENST00000380664.5_Missense_Mutation_p.F879V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	879						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						GTTCCAGAAAAAGCCATCTCT	0.443000													110	177					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371055	55371055	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55371055C>T	ENST00000302231.4	-	1	819	c.795G>A	c.(793-795)atG>atA	p.M265I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCATCTTGTCCATGGGGAAAG	0.428000													36	75					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458688	155458688	+	Translation_Start_Site	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:155458688A>T	ENST00000367174.2	+	0	1780				TIAM2_ENST00000360366.4_Missense_Mutation_p.E524D|TIAM2_ENST00000529824.2_Missense_Mutation_p.E524D|TIAM2_ENST00000461783.3_Missense_Mutation_p.E524D|TIAM2_ENST00000318981.5_Missense_Mutation_p.E524D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E524D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCAGAAGGAAAGGAAGCTTG	0.557000													12	47					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517323	79517323	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:79517323C>T	ENST00000537152.1	-	3	1269	c.744G>A	c.(742-744)ctG>ctA	p.L248L	C17orf70_ENST00000327787.8_Silent_p.L399L	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	399					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCAGATGTTCAGGCTGGCTG	0.632000													72	102					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027004	38027004	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:38027004A>G	ENST00000377940.3	+	2	249	c.110A>G	c.(109-111)aAg>aGg	p.K37R	ZPBP2_ENST00000348931.4_Missense_Mutation_p.K59R|ZPBP2_ENST00000584588.1_Missense_Mutation_p.K59R	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	59					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGATTTTAAGCTTTCTAAA	0.279000													17	24					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912014	150912014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:150912014G>A	ENST00000329903.4	+	6	1072	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	347					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGTAAAGGATGAGGAGTA	0.493000													56	15					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123471920	123471920	+	Silent	SNP	G	G	A	rs147908575	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:123471920G>A	ENST00000280562.5	-	22	3508	c.3303C>T	c.(3301-3303)ttC>ttT	p.F1101F	PITPNM2_ENST00000392428.1_Silent_p.F828F|PITPNM2_ENST00000542749.1_Silent_p.F1107F|PITPNM2_ENST00000320201.4_Silent_p.F1107F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGAAGACCACGAACTCTGTGC	0.647000													15	21					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:46490500C>T	ENST00000231751.4	-	9	1361	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_ENST00000426532.2_Missense_Mutation_p.E312K|LTF_ENST00000417439.1_Missense_Mutation_p.E356K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000													18	41					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835827	50835827	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50835827G>A	ENST00000395562.2	+	8	1330	c.861G>A	c.(859-861)gtG>gtA	p.V287V	CHAT_ENST00000351556.3_Silent_p.V251V|CHAT_ENST00000395559.2_Silent_p.V251V|CHAT_ENST00000337653.2_Silent_p.V369V|CHAT_ENST00000339797.1_Silent_p.V251V|CHAT_ENST00000455728.2_Silent_p.V251V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	369					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CGGTCCTCGTGAAAGGTCAGC	0.612000													7	17					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013944	7013944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:7013944G>A	ENST00000389658.3	-	23	3326	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1078	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAACCCAAGGAACACTGATC	0.592000													8	15					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186571	37186571	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:37186571C>T	ENST00000425901.2	+	0	413					NR_033753.2																						AGCAAGAGTTCCCAGCTGAGC	0.587000													4	1					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174383	207174383	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:207174383G>A	ENST00000374423.3	+	5	5517	c.5131G>A	c.(5131-5133)Gat>Aat	p.D1711N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1711							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGCAGTGGATTTTGGTGC	0.468000													12	18					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46311865	46311865	+	Missense_Mutation	SNP	C	C	T	rs147131391		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:46311865C>T	ENST00000359930.4	-	7	1788	c.937G>A	c.(937-939)Gta>Ata	p.V313I	SULF2_ENST00000467815.1_Missense_Mutation_p.V313I|SULF2_ENST00000361612.4_Missense_Mutation_p.V313I|SULF2_ENST00000484875.1_Missense_Mutation_p.V313I|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	313					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCGGTGTATACGATGTACGTG	0.572000													23	103					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994505	140994505	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:140994505C>T	ENST00000285879.4	+	4	1601	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	439							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)					TGAGGGTTTTCCCCAGTCTCC	0.458000										HNSCC(15;0.026)			47	16					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454385	79454385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:79454385G>A	ENST00000554719.1	+	12	2535	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E682K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACCTGCCAGGAAGATTCATG	0.438000													18	27					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906308	42906308	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:42906308C>T	ENST00000422265.1	+	3	489	c.314C>T	c.(313-315)tCc>tTc	p.S105F	ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.S105F|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S105F	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TGGGGCATCTCCGTGGCCTGG	0.498000													75	121					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954876	30954876	+	Silent	SNP	C	C	T	rs41288669	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30954876C>T	ENST00000376296.3	+	2	1165	c.924C>T	c.(922-924)acC>acT	p.T308T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	308	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> V (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTACGACCTCCAGTGGGG	0.607000													155	371					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832690	131832690	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:131832690G>A	ENST00000359827.3	-	27	5795	c.4833C>T	c.(4831-4833)tcC>tcT	p.S1611S	PLXNA4_ENST00000321063.4_Silent_p.S1611S			Q9HCM2	PLXA4_HUMAN	plexin A4	1611						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						TGGAGACGGTGGAGTTGTTCA	0.537000													108	109					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019064	14019064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:14019064G>A	ENST00000279593.3	-	2	288	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	27					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCTGAGAACGAGCTCTGCTG	0.582000													24	26					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556176	176556176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:176556176C>T	ENST00000280187.7	-	8	762	c.717G>A	c.(715-717)tgG>tgA	p.W239*	GPM6A_ENST00000515090.1_Nonsense_Mutation_p.W232*|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Nonsense_Mutation_p.W239*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.W228*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	239						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCACATAGGCCCAGTTGGCAG	0.433000													5	50					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:101186048C>T	ENST00000294728.2	+	2	182	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_ENST00000370119.4_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I|VCAM1_ENST00000347652.2_Silent_p.I27I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	27	Ig-like C2-type 1.				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	p.I27M(1)		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)	CTTTTAAAATCGAGACCACCC	0.408000													30	77					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851101	71851101	+	Silent	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:71851101G>T	ENST00000377245.4	+	13	2146	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	TJP2_ENST00000265384.7_Silent_p.L646L|TJP2_ENST00000539225.1_Silent_p.L677L|TJP2_ENST00000348208.4_Silent_p.L646L|TJP2_ENST00000453658.2_Silent_p.L623L|TJP2_ENST00000535702.1_Silent_p.L650L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	646	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCAACTGGCTGGCTGTGAGGA	0.522000													32	60					2.05212e-20	2.10565e-20	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57424006	57424006	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:57424006G>A	ENST00000442789.2	-	25	2866	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L	MYO1A_ENST00000300119.3_Missense_Mutation_p.S860L|MYO1A_ENST00000544473.1_Missense_Mutation_p.S698L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	860					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGGGGATATGAAGCCTTCTT	0.552000													28	52					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163358	247163358	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:247163358C>T	ENST00000339986.7	-	2	169	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF695_ENST00000487338.2_Missense_Mutation_p.D8N|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	8	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGAGCCACATCCCTGAATGCC	0.453000													30	31					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309927	56309927	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:56309927T>A	ENST00000528616.2	-	1	830	c.807A>T	c.(805-807)gaA>gaT	p.E269D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTATTTTAGATTCCTCAACAG	0.408000													27	36					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859759	144859759	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:144859759C>T	ENST00000369359.4	-	41	6771	c.6733_splice	c.e41+1	p.D2245_splice	PDE4DIP_ENST00000530740.1_Splice_Site_p.D2194_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.D2109_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.D2109_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.D2003_splice|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2109					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTTCCTACCTTGGAGGAGC	0.572000			T	PDGFRB	MPD								14	87					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594778	55594778	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55594778C>T	ENST00000378397.1	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.502000										HNSCC(27;0.073)			96	183					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693178	30693178	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:30693178C>T	ENST00000471646.1	-	12	1551	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Silent_p.Q364Q|CRHR2_ENST00000348438.4_Silent_p.Q405Q	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	378					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGATGGTCCTGCCAGCGGT	0.642000													126	194					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825720	20825720	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:20825720T>A	ENST00000328879.4	-	3	466	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	104	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	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)			AAATGTAGGATTTGGCACATA	0.507000													95	99					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022822	76022822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:76022822G>A	ENST00000393004.2	-	5	2947	c.2726C>T	c.(2725-2727)cCc>cTc	p.P909L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P909L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P810L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	909										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AATATGCAGGGGCTGGCCCTG	0.522000													28	80					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160698800	160698800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:160698800G>A	ENST00000263636.4	-	24	3263	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	LY75_ENST00000554112.1_Missense_Mutation_p.S1079F|LY75_ENST00000553424.1_Missense_Mutation_p.S1079F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1079F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1079F	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S1079F(3)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCACTGCAGGATGTAAAATT	0.363000													21	40					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921472	78921472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:78921472G>A	ENST00000261751.3	-	5	1286	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	392					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TGCAGAGGCGGGGTTCACAAA	0.627000													16	23					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926650	157926650	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:157926650C>T	ENST00000389413.3	-	9	1378	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	PTPRN2_ENST00000389418.4_Silent_p.R425R|PTPRN2_ENST00000389416.4_Silent_p.R408R|PTPRN2_ENST00000404321.2_Silent_p.R448R|PTPRN2_ENST00000409483.1_Silent_p.R387R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	425						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)		CGGACTTCTTCCTCTCCATGT	0.597000													75	14					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237850	38237850	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:38237850G>A	ENST00000379705.3	-	6	2248	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	TRPC4_ENST00000379681.3_Missense_Mutation_p.P464L|TRPC4_ENST00000338947.5_Missense_Mutation_p.P291L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.P464L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.P464L|TRPC4_ENST00000379679.1_Missense_Mutation_p.P291L|TRPC4_ENST00000379673.2_Missense_Mutation_p.P464L|TRPC4_ENST00000358477.2_Missense_Mutation_p.P464L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	464					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)		TGATTCTCGTGGATTAAGGGC	0.418000													12	19					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470496	51470496	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:51470496C>T	ENST00000376851.3	-	3	565	c.126G>A	c.(124-126)tcG>tcA	p.S42S	KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000594641.1_Silent_p.S42S|KLK6_ENST00000310157.2_Silent_p.S42S|KLK6_ENST00000376853.4_Silent_p.S42S	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	42	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)		GCAAGTGGCCCGAGGTGTAGA	0.557000													29	67					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158283932	158283932	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:158283932C>T	ENST00000264192.3	-	6	598	c.476_splice	c.e6-1	p.T159_splice	CYTIP_ENST00000540637.1_Splice_Site_p.T53_splice	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	159	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAGTCTCTATCCTGTTTTAAG	0.358000													8	11					0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101576786	101576786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:101576786G>A	ENST00000395088.2	+	27	3154	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	NXF2_ENST00000472029.1_3'UTR|NXF2_ENST00000372758.1_Missense_Mutation_p.D428N|NXF2_ENST00000372763.1_Missense_Mutation_p.D340N|NXF2_ENST00000330252.5_Missense_Mutation_p.D428N|NXF2_ENST00000372757.1_Missense_Mutation_p.D428N			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	428	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			endometrium(2)|lung(2)	4						TATTCCCTTCGACCCCAAGGA	0.582000													32	45					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28473512	28473512	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:28473512C>T	ENST00000361902.1	-	4	476	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	143					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGTTCTTTTTCTCCATTCACA	0.463000													16	75					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814560	214814560	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:214814560C>T	ENST00000366955.3	+	12	3047	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	960					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAATGAGTTCCATCATTTCT	0.348000													30	20					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544571	186544571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:186544571C>T	ENST00000431808.1	-	14	2563	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q	SORBS2_ENST00000284776.7_Missense_Mutation_p.R667Q|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.R571Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.R767Q|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	667						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGTGGTAAATCGAGTGTAGGA	0.532000													24	107					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604206	189604206	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:189604206C>T	ENST00000264731.3	+	11	1462	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	TP63_ENST00000382063.4_Missense_Mutation_p.S373L|TP63_ENST00000392460.3_Missense_Mutation_p.S458L|TP63_ENST00000440651.2_Missense_Mutation_p.S454L|TP63_ENST00000392461.3_Missense_Mutation_p.S364L|TP63_ENST00000354600.5_Missense_Mutation_p.S364L|TP63_ENST00000449992.1_Missense_Mutation_p.S279L|TP63_ENST00000392463.2_Missense_Mutation_p.S364L|TP63_ENST00000320472.5_Missense_Mutation_p.S458L|TP63_ENST00000456148.1_Missense_Mutation_p.S360L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	458					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCTTCATATGGTAAC	0.473000										HNSCC(45;0.13)			28	44					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43970996	43970996	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:43970996C>T	ENST00000282406.4	+	23	3533	c.3423C>T	c.(3421-3423)acC>acT	p.T1141T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1141	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGCATCTACCACAGTGGAAG	0.393000													8	30					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001108	142001108	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:142001108C>T	ENST00000455382.2	+	0	274																											TTTCTGGTTTCCTTTTATAAT	0.398000													9	9					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086227	92086227	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:92086227G>A	ENST00000298047.6	+	1	966	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	FAT3_ENST00000525166.1_Missense_Mutation_p.E167K|FAT3_ENST00000409404.2_Missense_Mutation_p.E317K|FAT3_ENST00000541502.1_Missense_Mutation_p.E317K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	317	Cadherin 3.				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)				CCTGGCTAAGGAAGGAAAGTG	0.443000										TCGA Ovarian(4;0.039)			12	18					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101821541	101821541	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:101821541G>A	ENST00000360035.2	+	0	1517					NR_002216.1															endometrium(2)|lung(8)	10						TCAACCCTGAGGACCCAGAAC	0.537000													7	2					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31004528	31004528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:31004528C>T	ENST00000215095.5	-	9	940	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	STX1B_ENST00000565419.1_Missense_Mutation_p.E237K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	237	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACAGAATGTTCCACGTTGTAC	0.602000													96	166					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534309	47534309	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:47534309G>A	ENST00000334194.3	+	2	196	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	65						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCAGTAAAGGAGTTTGAGGT	0.458000													64	143					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749072	33749072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:33749072C>T	ENST00000394562.1	-	4	1499	c.976G>A	c.(976-978)Gat>Aat	p.D326N	SLFN12_ENST00000452764.3_Missense_Mutation_p.D326N|SLFN12_ENST00000304905.5_Missense_Mutation_p.D326N			Q8IYM2	SLN12_HUMAN	schlafen family member 12	326							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACACGGTTATCTTTCACATGC	0.483000													3	74					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760536	115760536	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:115760536C>T	ENST00000427548.1	-	0	1277							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TTCTCAGATTCCATCAGTACT	0.358000													39	36					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70418950	70418950	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:70418950C>T	ENST00000381280.4	+	2	448	c.195C>T	c.(193-195)tcC>tcT	p.S65S	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.S65S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	65	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCTACGAGTCCATGTGTGAGT	0.582000													64	97					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212483928	212483928	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:212483928G>A	ENST00000342788.4	-	19	2585	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P749S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P759S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	759	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTGCCTTGGGACCAGTTGTC	0.368000										TSP Lung(8;0.080)			19	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595501	82595501	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82595501C>T	ENST00000423517.2	-	4	3940	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	PCLO_ENST00000333891.8_Silent_p.E1201E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1140					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						CTTTGTCTTTCTCTAGTTTAC	0.348000													44	46					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541256	178541256	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:178541256G>T	ENST00000251582.7	-	22	3349	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1083	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTTGTAGCCTGGGATGGAGCA	0.502000													6	80					2.7689e-08	2.80455e-08	1	1	0
CNPPD1	27013	broad.mit.edu	37	2	220037718	220037718	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:220037718G>A	ENST00000409789.1	-	9	1250	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	CNPPD1_ENST00000360507.5_Missense_Mutation_p.R275C			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	275					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AGGAGGCAACGGGAGGTCAGT	0.617000													32	96					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269879	84269879	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:84269879A>G	ENST00000428679.2	-	28	3168	c.2575T>C	c.(2575-2577)Ttt>Ctt	p.F859L	SNAP91_ENST00000521743.1_Missense_Mutation_p.F859L|SNAP91_ENST00000437520.1_Missense_Mutation_p.F552L|SNAP91_ENST00000520302.1_Missense_Mutation_p.F829L|SNAP91_ENST00000521485.1_Missense_Mutation_p.F854L|SNAP91_ENST00000520213.1_Missense_Mutation_p.F552L|SNAP91_ENST00000439399.2_Missense_Mutation_p.F859L|SNAP91_ENST00000369694.2_Missense_Mutation_p.F859L|SNAP91_ENST00000195649.6_Missense_Mutation_p.F854L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	859	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGCTGTGCAAACATGACCGGC	0.537000													23	65					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29105639	29105639	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:29105639C>T	ENST00000409850.1	-	14	1609	c.963_splice	c.e14+1	p.T321_splice	CPVL_ENST00000265394.5_Splice_Site_p.T321_splice|CPVL_ENST00000396276.3_Splice_Site_p.T321_splice			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	321					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGTCATTACCGTGCACCGCA	0.323000													57	58					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035866	108035866	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:108035866G>A	ENST00000280758.5	+	14	3368		c.e14-1		BTBD11_ENST00000490090.2_Splice_Site|BTBD11_ENST00000420571.2_Splice_Site|BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTTGTTCAGGTTCAAAGCA	0.438000													23	73					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921471	78921471	+	Silent	SNP	G	G	A	rs142694602	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:78921471G>A	ENST00000261751.3	-	5	1287	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	392					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGCAGAGGCGGGGTTCACAA	0.627000													16	21					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798741	55798741	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:55798741C>T	ENST00000313555.1	+	1	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGTATTTCCCATGTTTAA	0.348000													12	24					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286558	240286558	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:240286558C>T	ENST00000319653.9	+	2	1925	c.1695C>T	c.(1693-1695)atC>atT	p.I565I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	565					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.I708I(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTCCCGGATCATTGCCATGG	0.498000													30	77					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													50	185					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890587	197890587	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:197890587G>A	ENST00000367390.3	+	4	531	c.504G>A	c.(502-504)aaG>aaA	p.K168K	LHX9_ENST00000561173.1_Silent_p.K183K|LHX9_ENST00000337020.2_Silent_p.K177K|LHX9_ENST00000367387.4_Silent_p.K177K|LHX9_ENST00000367391.1_Silent_p.K168K	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	177	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCGGCATGAAGGACAGCCTGG	0.617000													32	97					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975707	152975707	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152975707G>A	ENST00000331860.3	+	3	361	c.211G>A	c.(211-213)Gag>Aag	p.E71K	SPRR3_ENST00000542696.1_Missense_Mutation_p.E71K|SPRR3_ENST00000295367.4_Missense_Mutation_p.E71K	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	71	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGGTCCCTGAGCCAGGCTG	0.582000													25	72					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514046	69514046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:69514046G>A	ENST00000294312.3	-	3	1400	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	212					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)			CTCAAAGCTGGGACTCCTCAC	0.597000													18	10					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915194	39915194	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:39915194C>T	ENST00000425673.1	+	17	3659	c.3334C>T	c.(3334-3336)Cca>Tca	p.P1112S	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1141S|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1082S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1141	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACTCAGGTTCCAGCTACCAC	0.597000													19	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500305	179500305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179500305C>T	ENST00000589042.1	-	227	41970	c.41746G>A	c.(41746-41748)Gaa>Aaa	p.E13916K	TTN_ENST00000342992.6_Missense_Mutation_p.E11348K|TTN_ENST00000342175.6_Missense_Mutation_p.E5043K|TTN_ENST00000359218.5_Missense_Mutation_p.E4976K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4851K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12275K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12275							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)			TCATTTGGTTCCGCAGGGATT	0.388000													3	8					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100511292	100511292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:100511292G>A	ENST00000376355.3	+	3	458	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CLYBL_ENST00000444838.2_Missense_Mutation_p.E143K|CLYBL_ENST00000376360.1_Missense_Mutation_p.E143K|CLYBL_ENST00000339105.4_Missense_Mutation_p.E143K|CLYBL_ENST00000376354.1_Missense_Mutation_p.E143K	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	143					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGTCCTGAAGAAATCCAGTG	0.512000													10	18					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94918597	94918597	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:94918597G>A	ENST00000536441.1	-	5	921	c.585C>T	c.(583-585)gtC>gtT	p.V195V	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Silent_p.V56V|SESN3_ENST00000393234.1_Silent_p.V195V|SESN3_ENST00000416495.2_Silent_p.V195V|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	195					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GTGCCAGGAGGACCACAGCAT	0.383000													55	26					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66844668	66844668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:66844668C>T	ENST00000379463.2	-	15	1216	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	NAE1_ENST00000359087.4_Missense_Mutation_p.E351K|NAE1_ENST00000290810.3_Missense_Mutation_p.E348K|NAE1_ENST00000394074.2_Missense_Mutation_p.E259K	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	348	Interaction with UBA3.				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTGCTTTTTCACGGTAACTA	0.358000													45	77					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957897	61957897	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:61957897G>A	ENST00000332800.7	-	4	824	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	GH2_ENST00000456543.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGAAGGAAGAGAAGGAGAGGC	0.537000													36	51					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573856	153573856	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:153573856G>A	ENST00000304385.3	-	2	519	c.288C>T	c.(286-288)ttC>ttT	p.F96F	TMEM154_ENST00000504064.1_Silent_p.F96F	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	96						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATGTTGCAAGGAATACCACGG	0.318000													9	47					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588503	20588503	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:20588503G>A	ENST00000428453.1	-	0	4247																				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						CTTCCCTAGGGAAAACCTGAG	0.488000													9	8					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621206	144621206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:144621206G>A	ENST00000262577.5	-	2	362	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	111					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTCTCTCAAGGACATGCTGC	0.662000													83	72					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542331	95542331	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:95542331C>T	ENST00000295201.4	+	6	1262	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	375					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGAACATGTCCCTCACAGCAC	0.607000													8	9					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222320320	222320320	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:222320320C>T	ENST00000281821.2	-	8	1703	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S	EPHA4_ENST00000392071.4_Silent_p.S503S|EPHA4_ENST00000409854.1_Silent_p.S554S|EPHA4_ENST00000409938.1_Silent_p.S554S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	554						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)		CCACACTGCCCGAGACAGAGA	0.537000													17	56					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624578	44624578	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:44624578G>A	ENST00000332990.5	-	6	712	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	232						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGGATGACATGATTCCAAAGA	0.458000													22	50					0	0	1	0	0
INTS4P2	644619	broad.mit.edu	37	7	65157765	65157765	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:65157765C>T	ENST00000430126.2	+	0	1092																											TCAGATCACACCGTCAGGCAC	0.408000													61	279					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33319026	33319026	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:33319026C>T	ENST00000378526.4	+	7	1391	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	LIG3_ENST00000262327.5_Silent_p.L420L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	420					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAAACATGATCTGAAGATGAA	0.458000								Other BER factors					40	60					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													2	1					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:13737548C>T	ENST00000265104.4	-	66	11372	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3756	AAA 5 (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)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome				60	15					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23417851	23417851	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:23417851G>A	ENST00000302291.4	-	4	3705	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	LUZP1_ENST00000418342.1_Silent_p.S968S|LUZP1_ENST00000314174.5_Silent_p.S968S|LUZP1_ENST00000374623.3_Silent_p.S968S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	968						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CAAAAAGGCAGGACCTGGGCT	0.542000													10	28					0	0	1	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784891	149784891	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:149784891T>A	ENST00000331491.1	-	1	345	c.346A>T	c.(346-348)Aag>Tag	p.K116*		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	116					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCACGCGCTTGGCATGGATG	0.617000													77	64					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47445102	47445102	+	Silent	SNP	C	C	T	rs35209437		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:47445102C>T	ENST00000377018.2	+	3	1035	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Intron|TIMP1_ENST00000456754.2_3'UTR|TIMP1_ENST00000377017.1_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						ACGGGAGATCCTTCCCGGGGC	0.592000													16	3					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35289643	35289643	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:35289643A>C	ENST00000408931.3	-	2	826	c.300T>G	c.(298-300)atT>atG	p.I100M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	100						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCTGCAGGCAATTTTGGCCA	0.582000													22	97					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:124195487G>A	ENST00000518448.1	+	2	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612000													32	107					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535633	130535633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:130535633C>T	ENST00000532763.1	-	3	247	c.118G>A	c.(118-120)Gat>Aat	p.D40N	SAMD3_ENST00000457563.2_Missense_Mutation_p.D64N|SAMD3_ENST00000437477.2_Missense_Mutation_p.D40N|SAMD3_ENST00000324172.6_Missense_Mutation_p.D40N|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000368134.2_Missense_Mutation_p.D40N|SAMD3_ENST00000439090.2_Missense_Mutation_p.D40N			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	40	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACCATCCGATCATTAAGTGCA	0.413000													17	40					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49302952	49302952	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:49302952G>A	ENST00000402551.1	-	7	1175	c.555C>T	c.(553-555)gtC>gtT	p.V185V	BCAT2_ENST00000599246.1_Silent_p.V133V|BCAT2_ENST00000316273.6_Silent_p.V225V|BCAT2_ENST00000545387.2_Silent_p.V133V|BCAT2_ENST00000597011.1_Silent_p.V185V|BCAT2_ENST00000598162.1_Silent_p.V225V			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	225						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGTAGTTGCCGACCCCGCCCA	0.652000													9	8					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111753534	111753534	+	Missense_Mutation	SNP	C	C	T	rs150734728	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:111753534C>T	ENST00000389811.4	+	15	1548	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	ACOXL_ENST00000496981.1_3'UTR|ACOXL_ENST00000439055.1_Missense_Mutation_p.R412C			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	442					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTGAAATTTCGTGAAAGGGT	0.368000													71	88					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505492	57505492	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:57505492T>G	ENST00000278422.4	+	3	370	c.358T>G	c.(358-360)Tgc>Ggc	p.C120G	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	120	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CATCACACTCTGCATAGGTGA	0.403000													34	57					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116485450	116485450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:116485450G>A	ENST00000410059.1	+	8	1115	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	DPP10_ENST00000393147.2_Missense_Mutation_p.R216Q|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.R205Q|DPP10_ENST00000409163.1_Missense_Mutation_p.R162Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	212					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTTCATTGCGACTGACATCT	0.308000													13	14					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4943309	4943309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:4943309C>T	ENST00000345988.2	-	14	1644	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	PPL_ENST00000590782.2_Missense_Mutation_p.D517N	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	519					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCTGCCGGTCCAGGTCGCTG	0.662000													10	20					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129108	83129108	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:83129108G>A	ENST00000329312.4	+	4	1429	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	464					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAAGAAGGGGAAGAAAGATT	0.353000													6	2					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212483927	212483927	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:212483927G>A	ENST00000342788.4	-	19	2586	c.2276C>T	c.(2275-2277)cCc>cTc	p.P759L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P749L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P759L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	759	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTTGCCTTGGGACCAGTTGT	0.368000										TSP Lung(8;0.080)			19	45					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66941765	66941765	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:66941765G>A	ENST00000374690.3	+	6	2933	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Silent_p.Q271Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	802	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCACCCCCCAGGAATTCCTGT	0.537000									Androgen Insensitivity Syndrome				57	11					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483500	32483500	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:32483500G>T	ENST00000359872.6	-	1	813	c.52C>A	c.(52-54)Cag>Aag	p.Q18K		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	18					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCAAAGATCTGGATGCTAGAA	0.597000													15	71					2.35188e-11	2.40279e-11	1	1	0
ELAC2	60528	broad.mit.edu	37	17	12921032	12921032	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:12921032G>A	ENST00000338034.4	-	1	472	c.233C>T	c.(232-234)tCc>tTc	p.S78F	ELAC2_ENST00000395962.2_Intron|ELAC2_ENST00000426905.3_Missense_Mutation_p.S78F|ELAC2_ENST00000578071.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	78					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTTGAACTCGGAGAAGACGTA	0.706000													15	25					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516944	157516944	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:157516944G>A	ENST00000361835.3	-	3	253	c.96C>T	c.(94-96)acC>acT	p.T32T	FCRL5_ENST00000368190.3_Silent_p.T32T|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Silent_p.T32T|FCRL5_ENST00000356953.4_Silent_p.T32T|FCRL5_ENST00000368188.2_Silent_p.T32T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	32	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAAGACTGTGGTCCATGGAG	0.517000													65	141					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123376971	123376971	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:123376971C>T	ENST00000275162.4	+	5	2031	c.696C>T	c.(694-696)aaC>aaT	p.N232N	CLVS2_ENST00000368438.1_Silent_p.N86N	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	232	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATGGTAACAACCTGAACAGTC	0.453000													25	38					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180791	93180791	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:93180791G>A	ENST00000393218.2	-	7	747	c.410C>T	c.(409-411)cCc>cTc	p.P137L	LGMN_ENST00000334869.4_Missense_Mutation_p.P137L|LGMN_ENST00000557434.1_Missense_Mutation_p.P137L|LGMN_ENST00000555699.1_Missense_Mutation_p.P137L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	137					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GTGATCCTGGGGGCCACTGCC	0.388000											OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	38					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693789	30693789	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:30693789T>A	ENST00000399921.1	+	2	431	c.188T>A	c.(187-189)aTc>aAc	p.I63N	BACH1_ENST00000286800.3_Missense_Mutation_p.I63N	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	63	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACTCAAGAATCGTAGGCCAG	0.473000													24	47					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80631503	80631503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:80631503G>A	ENST00000369816.4	-	4	680	c.380C>T	c.(379-381)gCt>gTt	p.A127V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	127					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CCACCACAGAGCAGCAGCTAT	0.338000													20	23					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:40958182G>A	ENST00000313164.9	+	11	1667	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000													26	19					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038833	55038833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:55038833G>A	ENST00000474759.1	+	32	2782	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E912K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E818K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E912K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	912						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCCAACAAGGAAAGCAGCGA	0.458000													30	48					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85447026	85447026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:85447026G>A	ENST00000369663.5	-	8	1538	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	401					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H401Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCCCCAGATGGAAGGCAGGA	0.577000													38	40					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915708	23915708	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:23915708G>A	ENST00000330377.2	-	3	504	c.387C>T	c.(385-387)aaC>aaT	p.N129N	IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	129	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GTGTAGCCTTGTTGGCTTGGA	0.587000													5	122					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323668	145323668	+	Missense_Mutation	SNP	G	G	A	rs150257348	by1000genomes	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:145323668G>A	ENST00000342960.5	+	27	3540	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1169										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAAAGGACGAAGAAGAGGA	0.463000													35	1419					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31911032	31911032	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:31911032G>A	ENST00000556679.1	+	8	987	c.932G>A	c.(931-933)gGg>gAg	p.G311E	C2_ENST00000452323.2_Missense_Mutation_p.G250E|C2_ENST00000442278.2_Missense_Mutation_p.G332E|C2_ENST00000469372.1_Missense_Mutation_p.G218E|C2_ENST00000299367.5_Missense_Mutation_p.G464E|CFB_ENST00000477310.1_Missense_Mutation_p.G235E|CFB_ENST00000456570.1_Missense_Mutation_p.G311E			P00751	CFAB_HUMAN	complement factor B	479	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATCTGCGGGGTGGGGAAC	0.582000													29	37					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799392	5799392	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:5799392A>T	ENST00000317093.2	-	1	505	c.473T>A	c.(472-474)tTc>tAc	p.F158Y	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCCTCAGGAAGGTGGCAAG	0.483000													44	86					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	65					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166916254	166916254	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:166916254G>A	ENST00000061240.2	+	5	1203	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TLL1_ENST00000513213.1_Missense_Mutation_p.E186K|TLL1_ENST00000507499.1_Missense_Mutation_p.E186K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	186	Metalloprotease (By similarity).				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)		GAGGCACTGGGAAAAGCACAC	0.448000													116	79					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875593	18875593	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:18875593G>A	ENST00000406451.3	+	21	2798	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	HDAC9_ENST00000401921.1_Missense_Mutation_p.G842E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G883E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G886E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	883	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTCCCATGGGAGATGTTGAG	0.443000													7	6					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572463	41572463	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:41572463C>T	ENST00000263253.7	+	30	6211	c.4992C>T	c.(4990-4992)gaC>gaT	p.D1664D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1664	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAGCCAGGACCGCTTTGTCT	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				55	68					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118635909	118635909	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:118635909A>G	ENST00000336338.5	-	8	1108	c.1043T>C	c.(1042-1044)aTt>aCt	p.I348T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	348						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAAGCAGGCAATATTTTCAAA	0.363000													3	10					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195069	195069	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:195069G>A	ENST00000328278.3	+	2	1174	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	382										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGCTGATCCTGGGCCTGAGCC	0.667000													5	22					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098156	144098156	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:144098156C>T	ENST00000467773.1	-	4	826	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R276Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R191Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	276					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.R276Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATAGGGTTCGTGTCTTTTT	0.542000													21	46					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124742331	124742331	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:124742331C>T	ENST00000397801.1	+	8	1405	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	ROBO3_ENST00000538940.1_Missense_Mutation_p.P383S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	405	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCAGTGTCTCCAAGAGGCCA	0.612000													35	16					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7124308	7124308	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7124308C>T	ENST00000356839.5	+	6	587	c.408C>T	c.(406-408)ctC>ctT	p.L136L	ACADVL_ENST00000350303.5_Silent_p.L114L|ACADVL_ENST00000581562.1_3'UTR|ACADVL_ENST00000543245.2_Silent_p.L159L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	136	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGCAGGGCCTCAAGGAGCTGG	0.612000													33	40					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231815	67231815	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:67231815C>T	ENST00000382713.5	+	2	349	c.159C>T	c.(157-159)ttC>ttT	p.F53F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	53	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCTTATTTCAGAAACTTTC	0.408000													7	47					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275702	114275702	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:114275702C>T	ENST00000357077.4	+	38	5981	c.5928C>T	c.(5926-5928)tcC>tcT	p.S1976S	ANK2_ENST00000264366.6_Silent_p.S1943S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1943					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACCTGTATCCCCCACTTCAA	0.483000													28	172					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56359780	56359780	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:56359780T>A	ENST00000548747.1	-	1	678	c.16A>T	c.(16-18)Aaa>Taa	p.K6*	PMEL_ENST00000552882.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000548493.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000550447.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000550464.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000536427.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000548689.1_Intron|PMEL_ENST00000449260.2_Nonsense_Mutation_p.K6*|PMEL_ENST00000539511.1_Nonsense_Mutation_p.K6*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.K6*			P40967	PMEL_HUMAN	premelanosome protein	6					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGCATCTTTTTAGCACCAGA	0.498000													95	153					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645372	113645372	+	Silent	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:113645372A>T	ENST00000546692.1	-	2	973	c.600T>A	c.(598-600)acT>acA	p.T200T	IQCD_ENST00000299732.2_Silent_p.T200T|IQCD_ENST00000416617.2_Silent_p.T200T			Q96DY2	IQCD_HUMAN	IQ motif containing D	200										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCATGGGACTAGTGAGTAGTT	0.438000													25	57					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983435	28983435	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:28983435G>A	ENST00000359747.4	+	11	1503	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D492N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	492	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATATCAATGATTATTGTCC	0.393000													12	17					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475843	7475843	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:7475843C>T	ENST00000399422.4	+	8	1187	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	380					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGATTTGTGCCAATCAGAAA	0.353000													9	16					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285536	19285536	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:19285536C>T	ENST00000308406.5	+	5	2306	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	MAPK7_ENST00000395602.4_Silent_p.P640P|MAPK7_ENST00000299612.7_Silent_p.P501P|MAPK7_ENST00000395604.3_Silent_p.P640P|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	640	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCCTGCACCCCACCCCACTG	0.711000													23	33					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52402951	52402951	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:52402951C>A	ENST00000361377.4	-	3	282	c.241G>T	c.(241-243)Gtt>Ttt	p.V81F	MOCS2_ENST00000450852.3_Missense_Mutation_p.V81F|MOCS2_ENST00000584946.1_Missense_Mutation_p.V81F|MOCS2_ENST00000582677.1_Missense_Mutation_p.V81F|MOCS2_ENST00000396954.3_Silent_p.P18P|MOCS2_ENST00000510818.2_Missense_Mutation_p.V81F|MOCS2_ENST00000508922.1_Missense_Mutation_p.V81F			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	81					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GGGGGGATAACGGCAATTTCG	0.433000													105	82					1.8369e-69	1.89581e-69	1	1	0
PROC	5624	broad.mit.edu	37	2	128186126	128186126	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:128186126C>T	ENST00000453608.2	+	8	1163	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	PROC_ENST00000234071.3_Silent_p.L330L|PROC_ENST00000422777.3_Silent_p.L330L|PROC_ENST00000409048.1_Silent_p.L364L			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	330	Peptidase S1.		M -> I (in patients with PROC deficiency).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCGCGAGCTCAATCAGGCCG	0.637000													28	86					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573072	103573072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:103573072C>T	ENST00000285402.3	+	2	869	c.713C>T	c.(712-714)cCc>cTc	p.P238L	ODF1_ENST00000518835.1_Missense_Mutation_p.P31L	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	238	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CCGTGTTATCCCTGTGGAAGC	0.547000													100	71					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990243	990243	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:990243C>T	ENST00000251289.5	+	4	499	c.476C>T	c.(475-477)tCc>tTc	p.S159F	WDR18_ENST00000587001.2_Missense_Mutation_p.S159F|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGACCCCTCCAGGATTCCG	0.731000													5	24					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180031445	180031445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:180031445C>T	ENST00000367607.3	+	26	5771	c.5353C>T	c.(5353-5355)Cga>Tga	p.R1785*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1785						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAAAGATCCGACAGACCAC	0.383000													15	17					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303977	151303977	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:151303977G>A	ENST00000370323.4	-	4	432	c.116C>T	c.(115-117)tCa>tTa	p.S39L	MAGEA10_ENST00000244096.3_Missense_Mutation_p.S39L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	39										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGATGATGAAGCATCCTC	0.557000													21	10					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105178250	105178250	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:105178250G>A	ENST00000428173.2	+	20	3619	c.3315_splice	c.e20-1	p.E1106_splice	NRK_ENST00000243300.9_Splice_Site_p.E1105_splice			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1105			P -> S (in dbSNP:rs35393519).				ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCTTTTAGGAGCCAGGTGG	0.423000										HNSCC(51;0.14)			23	7					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117827034	117827034	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:117827034G>A	ENST00000350763.4	-	11	3790	c.3379C>T	c.(3379-3381)Cgg>Tgg	p.R1127W	TNC_ENST00000341037.4_Missense_Mutation_p.R1127W|TNC_ENST00000537320.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.R1127W|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1127	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCACAGCCCGAAGGCTGCCA	0.587000													62	77					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987391	61987391	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:61987391G>A	ENST00000450719.3	-	3	557	c.320C>T	c.(319-321)cCc>cTc	p.P107L	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P118L|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATTCACGAGGGGAAATGAAGA	0.547000													38	66					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904225	166904225	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:166904225C>T	ENST00000423058.2	-	8	1099	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	SCN1A_ENST00000375405.3_Missense_Mutation_p.G361D|SCN1A_ENST00000303395.4_Missense_Mutation_p.G361D|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G361D	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	361						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)	GCTTGTGTAGCCATAATTGGG	0.408000													52	81					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236226	106236226	+	RNA	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:106236226C>T	ENST00000390551.2	-	0	577																											TCACGTCCACCACCACGCACG	0.592000													48	94					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129662210	129662210	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:129662210G>A	ENST00000358303.4	-	9	1473	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	ZC3HC1_ENST00000311873.5_Silent_p.T442T|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000481503.1_Silent_p.T420T|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.T392T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	463					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CCAAGAGGATGGTCAGCACTG	0.552000													78	137					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100634	89100634	+	RNA	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:89100634A>T	ENST00000393525.3	+	0	1108																											TGATGCTCGCAACAAAGCTGA	0.383000													50	73					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994975	53994975	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:53994975T>G	ENST00000396403.4	+	4	1617	c.1489T>G	c.(1489-1491)Tgt>Ggt	p.C497G	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACCTTACAAGTGTAATGAATG	0.403000													19	42					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54439916	54439916	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:54439916T>G	ENST00000263925.7	-	2	568	c.254A>C	c.(253-255)cAg>cCg	p.Q85P	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	85						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTGCAGTGCTGCAGAACCAG	0.572000													3	26					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093927	1093927	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:1093927C>T	ENST00000441003.2	+	30	5773	c.5746C>T	c.(5746-5748)Cct>Tct	p.P1916S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P204S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1942						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACCACGTCCCCTCCAGGTAA	0.647000													12	15					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115475	25115475	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:25115475C>T	ENST00000332271.5	-	21	3029	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	PIWIL3_ENST00000533313.1_Silent_p.P753P|PIWIL3_ENST00000527701.1_Silent_p.P753P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	871					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGAACGATTCGGTTCCTGGT	0.483000													86	74					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598783	61598783	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:61598783G>A	ENST00000370349.3	+	14	1428	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	SLC17A9_ENST00000370351.4_Silent_p.G414G|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	414					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCAACCTGGGGCTGTGCACCT	0.602000													157	100					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511107	15511107	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:15511107C>T	ENST00000397410.4	-	8	1111	c.1048_splice	c.e8+1	p.K349_splice	AKAP8L_ENST00000595465.1_Splice_Site_p.K288_splice|AC006128.2_ENST00000599183.1_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	349						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAAACTCACCCTTCTCTGGAT	0.557000													36	43					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113024	57113024	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:57113024C>T	ENST00000262510.6	+	44	5369	c.5144C>T	c.(5143-5145)tCc>tTc	p.S1715F	NLRC5_ENST00000308149.7_Missense_Mutation_p.S1686F|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1686F	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1715				S -> F (in Ref. 7; BAB55096/BAB55098).	defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.H1717fs*29(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGGATGGATCCCCCCATTTG	0.647000													22	81					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963377	73963377	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:73963377G>A	ENST00000373468.1	-	3	1666	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P339S			Q5QGS0	K2022_HUMAN	KIAA2022	339					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						AAGACGCTGGGAAAAAAGTTG	0.458000													36	5					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39855359	39855359	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:39855359T>C	ENST00000538976.1	+	16	2233	c.2051T>C	c.(2050-2052)cTt>cCt	p.L684P	DAAM2_ENST00000274867.4_Missense_Mutation_p.L684P|DAAM2_ENST00000398904.2_Missense_Mutation_p.L684P|RP11-61I13.3_ENST00000607675.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	684	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCATCATCCTTCTTTCCAAG	0.562000													16	30					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574126	44574126	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:44574126G>A	ENST00000289547.4	-	6	2141	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	NPC1L1_ENST00000423141.1_Silent_p.L696L|NPC1L1_ENST00000546276.1_Silent_p.L696L|NPC1L1_ENST00000381160.3_Silent_p.L696L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	696	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGATGACCAGGGAGGAGCGG	0.597000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	127					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425166	179425166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:179425166C>T	ENST00000589042.1	-	326	85917	c.85693G>A	c.(85693-85695)Gaa>Aaa	p.E28565K	TTN_ENST00000342992.6_Missense_Mutation_p.E25997K|TTN_ENST00000342175.6_Missense_Mutation_p.E19692K|TTN_ENST00000359218.5_Missense_Mutation_p.E19625K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19500K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26924K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26924	Ig-like 132.						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)			GTCATAGATTCTTTGGTCACA	0.428000													10	23					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357863	38357863	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:38357863C>T	ENST00000273173.4	+	9	1672	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC22A14_ENST00000448498.1_Silent_p.I527I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	527						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGGAGCCATCTTGTCCCTGA	0.627000													50	66					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55039462C>T	ENST00000456047.2	-	3	316	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_ENST00000293371.6_Missense_Mutation_p.E43K			P81605	DCD_HUMAN	dermcidin	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000													25	52					0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370228	65370228	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:65370228G>C	ENST00000432196.2	+	1	1075	c.1075G>C	c.(1075-1077)Gga>Cga	p.G359R		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	359						cytoplasm				lung(1)|prostate(1)|skin(1)	3						GGTGCGCAACGGACCTTCCGA	0.682000													19	55					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174162	106174162	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:106174162G>A	ENST00000390547.2	-	0	626																											TCTTGGACTCGGGGTAGGCAG	0.612000													24	41					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:55174728C>T	ENST00000414150.2	+	23	3987	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	MROH7_ENST00000421030.2_Missense_Mutation_p.R1237C|MROH7_ENST00000454855.2_Missense_Mutation_p.R755C|MROH7_ENST00000409996.1_Missense_Mutation_p.R805C					maestro heat-like repeat family member 7																		GACAGAAGATCGTCTGAATGA	0.517000													50	81					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873586	2873586	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:2873586C>T	ENST00000586426.1	+	2	183	c.96C>T	c.(94-96)gtC>gtT	p.V32V	ZNF556_ENST00000307635.2_Silent_p.V32V			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ACAGAGATGTCATGCTGGAGA	0.448000													36	93					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15699595	15699595	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:15699595G>A	ENST00000281171.4	+	13	2587	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.E753K|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000442921.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	753	Fibronectin type-III 8.			E -> K (in Ref. 1; CAA88425).		integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGATTTCTTTGAAGTTTTCTG	0.423000													19	31					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360949	64360949	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:64360949C>T	ENST00000377574.1	+	3	1326	c.579C>T	c.(577-579)gcC>gcT	p.A193A	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	193					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCCTTCGCCCCTGCCTTCC	0.622000													35	58					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672602	30672602	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30672602G>A	ENST00000376406.3	-	10	5005	c.4358C>T	c.(4357-4359)cCt>cTt	p.P1453L	MDC1_ENST00000376405.2_Missense_Mutation_p.P1189L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1453	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGGAGCTCAGGGGCTGTGGG	0.567000								Other conserved DNA damage response genes					152	166					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927787	104927787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:104927787G>A	ENST00000507740.1	+	5	1537	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	RIMS2_ENST00000262231.10_Missense_Mutation_p.G481E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G626E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G404E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	704					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTAAAAAAAGGAAGTTTAGCT	0.323000										HNSCC(12;0.0054)			19	62					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356341	55356341	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:55356341G>A	ENST00000524622.1	-	7	1588	c.927C>T	c.(925-927)ctC>ctT	p.L309L	TESPA1_ENST00000531122.1_Silent_p.L309L|TESPA1_ENST00000316577.8_Silent_p.L447L|TESPA1_ENST00000532804.1_Silent_p.L309L|TESPA1_ENST00000449076.1_Silent_p.L447L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	447																	TCCTGCCCATGAGATTCTTCT	0.502000													61	98					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106082652	106082652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:106082652C>T	ENST00000357242.5	+	8	1492	c.1318C>T	c.(1318-1320)Cac>Tac	p.H440Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.H440Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.H434Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	440						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAGTATTTCACCCTCAGAA	0.348000													34	9					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296356	28296356	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:28296356G>A	ENST00000394835.3	+	4	930	c.738G>A	c.(736-738)aaG>aaA	p.K246K	EFCAB5_ENST00000378738.3_Silent_p.K246K|EFCAB5_ENST00000536908.2_Silent_p.K190K|EFCAB5_ENST00000320856.5_Silent_p.K246K|EFCAB5_ENST00000394832.2_Silent_p.K246K|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000541045.1_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	246							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGACCTGAAGATATATGTTC	0.338000													11	20					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153313022	153313022	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:153313022C>T	ENST00000368739.3	-	7	1005	c.647G>A	c.(646-648)gGa>gAa	p.G216E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.G220E			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	220					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCTGGCTCCCCACACAGA	0.592000													20	86					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26712202	26712202	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:26712202C>T	ENST00000457710.3	+	5	1907	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	513					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGGACCGCTCCCTGCTGCAC	0.706000													4	6					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887166	25887166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:25887166G>A	ENST00000376351.3	+	11	2970	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGAGTCCACGGAGTCGGTGCC	0.493000													27	52					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537465	55537465	+	Silent	SNP	A	A	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:55537465A>T	ENST00000220676.1	+	4	1171	c.1023A>T	c.(1021-1023)atA>atT	p.I341I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	341					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATTCAGAATAAAAGAGGAAG	0.323000													10	36					0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113909269	113909269	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:113909269A>G	ENST00000261731.3	-	1	608	c.35T>C	c.(34-36)aTc>aCc	p.I12T		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	12	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGGTCGAGGATGGGCCGCTC	0.667000													6	11					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434151	72434151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:72434151C>T	ENST00000373517.3	-	1	533	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	60					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCACCGTTTTCCCCTTCTTCC	0.582000													23	2					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573833	102573833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:102573833G>A	ENST00000260229.4	-	3	449	c.358C>T	c.(358-360)Ccg>Tcg	p.P120S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GCCATATCCGGAGTATAGTTT	0.348000													28	47					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:96180332G>A	ENST00000402399.1	-	1	201	c.72C>T	c.(70-72)ttC>ttT	p.F24F	TCL1A_ENST00000555202.1_Silent_p.F24F|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Silent_p.F24F|TCL1A_ENST00000554012.1_Silent_p.F24F|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	24					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)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL								47	112					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573832	102573832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:102573832G>A	ENST00000260229.4	-	3	450	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P120L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCCATATCCGGAGTATAGTT	0.348000													28	47					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586482	121586482	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:121586482C>T	ENST00000361976.2	+	20	2755	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F	INPP5F_ENST00000369080.3_Silent_p.F253F	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	863							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGATGAATTCCTTACAAATT	0.413000													29	55					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988568	17988568	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:17988568G>T	ENST00000222248.3	+	6	1082	c.735G>T	c.(733-735)tgG>tgT	p.W245C		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	245					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATACATTCTGGACTTTTGTGG	0.602000													9	94					7.03913e-09	7.13997e-09	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			53	82					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7829410	7829410	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:7829410G>A	ENST00000303790.2	-	5	415	c.416C>T	c.(415-417)aCc>aTc	p.T139I	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	139						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GTTCCCTAGGGTTCTTTCAGC	0.483000													39	62					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263666	140263666	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:140263666G>C	ENST00000289272.2	+	1	1813	c.1813G>C	c.(1813-1815)Gcg>Ccg	p.A605P	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A605P|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAATGCGTGGCTTTC	0.687000													18	251					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496516	152496516	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:152496516G>A	ENST00000427231.2	-	62	8946	c.8744C>T	c.(8743-8745)tCt>tTt	p.S2915F	NEB_ENST00000172853.10_Missense_Mutation_p.S2915F|NEB_ENST00000409198.1_Missense_Mutation_p.S2915F|NEB_ENST00000397345.3_Missense_Mutation_p.S2915F|NEB_ENST00000604864.1_Missense_Mutation_p.S2915F|NEB_ENST00000603639.1_Missense_Mutation_p.S2915F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2915					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)		CACATCCAAAGAGCCAATGGA	0.403000													62	65					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36629589	36629589	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:36629589G>A	ENST00000265113.4	+	3	695	c.219G>A	c.(217-219)atG>atA	p.M73I	SLC1A3_ENST00000381918.3_Missense_Mutation_p.M73I	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	73					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)	CATACAGAATGAGCTACCGGG	0.398000													27	109					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142627507	142627507	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:142627507C>T	ENST00000265310.1	-	2	511	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TRPV5_ENST00000442623.1_Missense_Mutation_p.E55K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	55					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGTCATTTTCCTTGGATGCT	0.512000													78	126					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882839	228882839	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:228882839G>A	ENST00000392056.3	-	7	2777	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P911S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	911						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATTGAGCAGGAAGCAGCAGG	0.473000													74	88					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244307	56244307	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:56244307C>T	ENST00000332836.2	-	2	917	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	297	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCACTGAATCCTAAGAGCTT	0.398000													16	25					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626771	108626771	+	Silent	SNP	G	G	A	rs141187628		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:108626771G>A	ENST00000264047.2	+	9	1473	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SLC5A7_ENST00000409059.1_Silent_p.T399T|SLC5A7_ENST00000540517.1_Silent_p.T294T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTTGCTGACGAAAACTGTGT	0.463000													46	50					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50599297	50599297	+	Silent	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:50599297G>T	ENST00000374139.2	-	2	55	c.45C>A	c.(43-45)acC>acA	p.T15T	DRGX_ENST00000434016.1_Silent_p.T20T			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	20					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GATTGCCAAAGGTTGCAGTGC	0.572000													5	5					2.0095e-06	2.02956e-06	1	1	0
PCLO	27445	broad.mit.edu	37	7	82785194	82785194	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:82785194C>T	ENST00000423517.2	-	2	1100	c.763G>A	c.(763-765)Gga>Aga	p.G255R	PCLO_ENST00000333891.8_Missense_Mutation_p.G255R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	255	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGGCTTTCCTGTACCTGGA	0.483000													21	59					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521793	31521793	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:31521793G>A	ENST00000331075.5	+	2	1117	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000412277.2_Silent_p.P289P|INPP5J_ENST00000400294.2_Intron|INPP5J_ENST00000404390.3_Intron			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	356	Pro-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCCACTCCCCGAATCGCTCTC	0.682000													5	7					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508577	43508577	+	Silent	SNP	G	G	T	rs143575715		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:43508577G>T	ENST00000300215.3	-	2	632	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	EPB42_ENST00000441366.2_Silent_p.R29R|EPB42_ENST00000540029.1_Silent_p.R29R			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	29					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAGAGGCGCCGGGAGCTGAGG	0.582000													17	30					5.26018e-13	5.3818e-13	1	1	0
CCDC170	80129	broad.mit.edu	37	6	151936725	151936725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:151936725G>T	ENST00000367290.5	+	10	1968	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	CCDC170_ENST00000239374.7_Nonsense_Mutation_p.E620*			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	620																	GGAGAATAAAGAAAGGGCCAG	0.413000													31	58					6.50621e-10	6.62791e-10	1	1	0
NOS1	4842	broad.mit.edu	37	12	117660637	117660637	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:117660637G>A	ENST00000317775.6	-	26	4543	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.F1320F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1286					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCGGCACCCGAAGACCAGGA	0.582000													36	62					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392832	89392832	+	RNA	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:89392832G>A	ENST00000532352.1	+	0	655							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTCCAGCGTGGAAATATCCT	0.478000													11	59					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111918	145111918	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:145111918G>A	ENST00000426825.1	-	12	1720	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	547							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTCTGGTCCAGCTGCACGAAG	0.682000													5	11					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118328	68118328	+	Silent	SNP	T	T	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:68118328T>C	ENST00000380035.2	+	2	220	c.162T>C	c.(160-162)agT>agC	p.S54S	SKOR1_ENST00000554240.1_Silent_p.S15S|SKOR1_ENST00000341418.5_Silent_p.S240S|SKOR1_ENST00000389002.1_Silent_p.S45S|SKOR1_ENST00000554054.1_Silent_p.S26S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	54					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCGAGGGCAGTTCCTCGCCCA	0.642000													25	38					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697177	17697177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:17697177C>T	ENST00000399080.2	-	1	2529	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	836										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTTTACTTCCTCTTTCAAA	0.299000													11	9					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207281	49207281	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:49207281C>T	ENST00000340334.7	-	7	1089	c.721G>A	c.(721-723)Gga>Aga	p.G241R	FOLH1_ENST00000256999.2_Missense_Mutation_p.G256R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G241R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.G256R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	256					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGGATATTTCCACGCTGGACA	0.468000													22	54					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69104697	69104697	+	Missense_Mutation	SNP	C	C	T	rs148366673		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:69104697C>T	ENST00000288368.4	+	37	4818	c.4541C>T	c.(4540-4542)tCc>tTc	p.S1514F		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	1514					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.S1514F(1)		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						CTGTCAGTTTCCTCGGAGCTG	0.562000													44	42					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227912266	227912266	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:227912266C>T	ENST00000396625.3	-	35	3422		c.e35-1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTGTTTCCTGAAAGGGAT	0.413000													7	27					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99796914	99796914	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:99796914C>G	ENST00000426455.1	+	15	1904	c.1497C>G	c.(1495-1497)gaC>gaG	p.D499E	STAG3_ENST00000317296.5_Missense_Mutation_p.D499E|STAG3_ENST00000394018.2_Missense_Mutation_p.D441E|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	499					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTTAGTAGACAGTCTGTGGG	0.527000													38	163					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3429917	3429917	+	RNA	SNP	T	T	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:3429917T>G	ENST00000529482.1	+	0	2046																											TTTTTGCAGGTGCTTTTCTCA	0.552000													18	24					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606380	11606380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:11606380G>A	ENST00000273038.3	-	4	733	c.368C>T	c.(367-369)tCc>tTc	p.S123F	VGLL4_ENST00000430365.2_Missense_Mutation_p.S129F|VGLL4_ENST00000451674.2_Missense_Mutation_p.S43F|VGLL4_ENST00000404339.1_Missense_Mutation_p.S128F|VGLL4_ENST00000424529.2_Missense_Mutation_p.S39F|VGLL4_ENST00000413604.1_Missense_Mutation_p.S64F	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCTGGGGAGGGAGGTGTACAG	0.711000													24	27					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894590	151894590	+	Silent	SNP	T	T	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:151894590T>A	ENST00000367290.5	+	6	1145	c.1056T>A	c.(1054-1056)atT>atA	p.I352I	CCDC170_ENST00000239374.7_Silent_p.I352I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	352																	TGGAGAAGATTCGAGAAATGG	0.493000													29	39					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063248	175063248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:175063248G>A	ENST00000239462.4	+	7	1560	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	483	Fibronectin type-III 3.				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)		TGCTGATGGGGACACCAAGGA	0.547000													18	41					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438000	124438000	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:124438000G>A	ENST00000360013.3	+	60	8771	c.8644G>A	c.(8644-8646)Gat>Aat	p.D2882N	KALRN_ENST00000428018.2_Missense_Mutation_p.D1153N|KALRN_ENST00000291478.4_Missense_Mutation_p.D1185N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2881	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCCTTCTTGGATGAGAGCAA	0.517000													28	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283290	152283290	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152283290C>T	ENST00000368799.1	-	3	4107	c.4072G>A	c.(4072-4074)Gga>Aga	p.G1358R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1358	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGGGATCCATGTCTTTCT	0.547000									Ichthyosis				504	449					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46394007	46394007	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:46394007G>A	ENST00000322217.5	-	3	1160	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	358	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						CGCTCCTTGGGGCAATGATCA	0.692000													3	4					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441839	57441839	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:57441839G>A	ENST00000442789.2	-	4	451	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MYO1A_ENST00000300119.3_Missense_Mutation_p.P55L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	55	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCCATAGATGGGAAGCTGTTG	0.507000													18	46					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915810	26915810	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:26915810C>T	ENST00000231021.4	-	3	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	151	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCATTGATATCATGTATTTTA	0.383000													139	26					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396716	197396716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:197396716C>T	ENST00000367397.1	+	3	1262	c.404C>T	c.(403-405)gCt>gTt	p.A135V	CRB1_ENST00000367399.2_Missense_Mutation_p.A642V|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A685V|CRB1_ENST00000367400.3_Missense_Mutation_p.A754V|CRB1_ENST00000544212.1_Missense_Mutation_p.A235V			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	754	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A754D(1)		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						TTACTTCTAGCTTTGGAAAAC	0.438000													9	46					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80665472	80665472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:80665472C>T	ENST00000458043.2	+	23	2542	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P846S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGCAGGTTTCCTGACCCTGA	0.453000													20	28					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421379	62421379	+	Silent	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr20:62421379A>C	ENST00000245663.4	-	2	882	c.732T>G	c.(730-732)ccT>ccG	p.P244P	ZBTB46_ENST00000302995.2_Silent_p.P244P|ZBTB46_ENST00000395104.1_Silent_p.P244P	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTTGGCAGAAGGCAGCTCGC	0.567000													19	59					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955141	30955141	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr6:30955141A>C	ENST00000376296.3	+	2	1430	c.1189A>C	c.(1189-1191)Acg>Ccg	p.T397P	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	397	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGAGTCCAGCACGACCTCCAG	0.627000													119	437					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386106	41386106	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr19:41386106G>A	ENST00000301146.4	-	4	1078	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S128S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	179						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGATGACATTGGAGACTGTGC	0.537000													29	64					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:3228536G>A	ENST00000217939.6	-	7	7862	c.7708C>T	c.(7708-7710)Ccg>Tcg	p.P2570S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2570	Ig-like C2-type 10.					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)				CTGGGTGTCGGGGTCCCCGCG	0.622000													12	5					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525628	176525628	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:176525628G>A	ENST00000367662.3	+	2	1334	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R57Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					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						GCCAAGGTTCGAAGACCCAGA	0.562000													40	124					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055551	50055551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:50055551C>T	ENST00000281631.5	+	4	417	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PARP8_ENST00000505554.1_Missense_Mutation_p.H66Y|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.H87Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H87Y|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Missense_Mutation_p.H87Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	87						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATTTTTCATAGAATAGC	0.254000													31	130					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671495	238671495	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:238671495C>G	ENST00000244815.5	+	10	1307	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S380C|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S324C|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	380					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAGAGCAGTTCTCTCCCTGAA	0.498000													46	69					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561402	44561402	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:44561402G>A	ENST00000332567.4	-	1	586	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	78	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCGGTCCACGAGCACCAGCT	0.642000													11	32					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141766457	141766457	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:141766457C>T	ENST00000475668.2	+	41	4909	c.4855C>T	c.(4855-4857)Ctg>Ttg	p.L1619L	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1619	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGCCATATCTGTATACCTT	0.502000													76	115					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134825302	134825302	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:134825302G>A	ENST00000398015.3	+	4	1188	c.818G>A	c.(817-819)gGg>gAg	p.G273E	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	273	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCCCTGCAGGGACATTCAAG	0.562000													18	33					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380685	114380685	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:114380685C>T	ENST00000359785.5	-	13	1472	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PTPN22_ENST00000420377.2_Missense_Mutation_p.R446Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.R319Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.R391Q|PTPN22_ENST00000538253.1_Missense_Mutation_p.R202Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	446					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATTTGGTCCGTGTTATTGG	0.378000													23	45					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32339209	32339209	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:32339209G>C	ENST00000298386.2	+	4	426	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.E119Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	119						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)		TGACTGCAAAGAAACTGAATT	0.318000													7	108					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809297	73809297	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr11:73809297A>C	ENST00000334126.7	-	16	2962	c.2736T>G	c.(2734-2736)gaT>gaG	p.D912E	C2CD3_ENST00000313663.7_Missense_Mutation_p.D912E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	912						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATCTTAGCATCTCTAGAGG	0.403000													24	44					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37271916	37271916	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:37271916C>T	ENST00000397147.4	+	8	1033	c.849C>T	c.(847-849)tcC>tcT	p.S283S	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGTCCCTCTCCCACTCCAAAG	0.622000													40	69					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93762393	93762393	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr14:93762393C>T	ENST00000334746.5	-	2	312	c.5G>A	c.(4-6)gGt>gAt	p.G2D	BTBD7_ENST00000555525.1_Missense_Mutation_p.G2D|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.G2D	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	2										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCATTAGCACCCATTTTCTT	0.448000													11	58					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73744598	73744598	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chrX:73744598G>C	ENST00000276033.5	+	3	1368	c.1202G>C	c.(1201-1203)gGa>gCa	p.G401A	SLC16A2_ENST00000587091.1_Missense_Mutation_p.G327A			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	327						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TGGGCCTTCGGAATTGCTGCT	0.577000													42	12					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085306	3085306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr3:3085306G>A	ENST00000397461.1	+	22	3113	c.2729G>A	c.(2728-2730)tGg>tAg	p.W910*	CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W910*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.W691*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.W582*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W910*|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.W582*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	910	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACATCATATGGAATTCATCA	0.358000													32	49					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	35					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882432	152882432	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr1:152882432G>A	ENST00000368764.3	+	2	223	c.159G>A	c.(157-159)gtG>gtA	p.V53V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	53					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTCCCAGTGGAGGTCCCAT	0.542000													27	90					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852374	173852374	+	Silent	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr4:173852374G>A	ENST00000506823.1	+	9	1761	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	GALNTL6_ENST00000508122.1_Silent_p.R351R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	368	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATATCTACAGGAAGTACGTTC	0.423000													41	186					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031087	101031087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr15:101031087G>A	ENST00000284382.4	-	5	646	c.223C>T	c.(223-225)Cga>Tga	p.R75*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.R75*|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Nonsense_Mutation_p.R75*	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTAACCTTTCGAACTGTCTCT	0.308000													29	96					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560781	44560781	+	Silent	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr18:44560781C>T	ENST00000332567.4	-	1	1207	c.855G>A	c.(853-855)ggG>ggA	p.G285G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	285					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGCTTGCCCCCCTTCCTTGT	0.607000													66	208					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208523	138208523	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:138208523G>A	ENST00000409968.1	+	15	3246	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1023Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R992Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAGAATTCGATCCAAATGG	0.413000													9	15					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390262	88390262	+	Missense_Mutation	SNP	C	C	T	rs146964348	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr12:88390262C>T	ENST00000298699.2	-	6	550	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E124K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	124										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGTAGTATTCCCCTAATCAA	0.313000													25	33					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr17:38954593C>T	ENST00000306658.7	-	3	649	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498000													37	50					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373012	24373012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr16:24373012C>T	ENST00000005284.3	+	4	1978	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	259					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCATCCCTTCCACTGACATC	0.592000													46	93					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108072074	108072074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr9:108072074G>A	ENST00000374720.3	+	3	443	c.196G>A	c.(196-198)Gga>Aga	p.G66R	SLC44A1_ENST00000374723.1_Missense_Mutation_p.G66R|SLC44A1_ENST00000374724.1_Missense_Mutation_p.G66R|SLC44A1_ENST00000607692.1_3'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	66						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CGACAGCTATGGAAATATCTG	0.413000													32	43					0	0	1	0	0
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													3	4	---	---	---	---					
SLCO6A1	133482	broad.mit.edu	37	5	101735412	101735412	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr5:101735412delA	ENST00000506729.1	-	10	1832	c.1661delT	c.(1660-1662)tafs	p.L554fs	SLCO6A1_ENST00000379810.1_Frame_Shift_Del_p.L301fs|SLCO6A1_ENST00000513675.1_Frame_Shift_Del_p.L301fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Del_p.L554fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Del_p.L492fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	554						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGCAGTTATTAATCCTTCTTT	0.328													30	128	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													8	212	---	---	---	---					
FAM160B2	64760	broad.mit.edu	37	8	21951976	21951977	+	Frame_Shift_Ins	INS	-	-	GGCC			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr8:21951976_21951977insGGCC	ENST00000289921.7	+	2	117_118	c.71_72insGGCC	c.(70-72)cgcfs	p.-24fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2											endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCTGCTGCAGGCCTTCGTGG	0.663													97	145	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr10:61828745_61828747delGTG	ENST00000280772.1	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)act>ac	p.TT3964del	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-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						ggtggtggcagtggtggtggtgg	0.498													7	97	---	---	---	---					
CCDC70	83446	broad.mit.edu	37	13	52439773	52439793	+	In_Frame_Del	DEL	TGGGAAGAGGAGAGACCTTTC	TGGGAAGAGGAGAGACCTTTC	-	rs74087831	byFrequency	TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr13:52439773_52439793delTGGGAAGAGGAGAGACCTTTC	ENST00000242819.4	+	2	555_575	c.259_279delTGGGAAGAGGAGAGACCTTTC	c.(259-279)del	p.WEEERPF87del		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	87						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCTGGGTTTTTGGGAAGAGGAGAGACCTTTCTGGGAAGAGG	0.443													24	46	---	---	---	---					
RBM11	54033	broad.mit.edu	37	21	15596777	15596777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A3MU-06A-11D-A21A-08	TCGA-D3-A3MU-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c914f9ad-27ff-4014-a1f8-bacdd94a77c8	d97087fc-784c-43df-952b-55b327c4c353	g.chr21:15596777delG	ENST00000400577.3	+	4	360	c.351delG	c.(349-351)gtfs	p.V117fs	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	117							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAATGTTGGTGGGCAGATCTT	0.299													2	4	---	---	---	---