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
KIAA0556	23247	broad.mit.edu	37	16	27689091	27689091	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:27689091G>A	ENST00000261588.4	+	7	601	c.582G>A	c.(580-582)agG>agA	p.R194R	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	194										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATCTACAAAGGAAACAAAAGG	0.453000													17	27					0	0	0.000566183	0	0
STAG3	10734	broad.mit.edu	37	7	99802628	99802628	+	Splice_Site	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:99802628G>A	ENST00000426455.1	+	28	3359	c.2951_splice	c.e28-1	p.K984_splice	GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Splice_Site_p.K926_splice|STAG3_ENST00000317296.5_Splice_Site_p.K984_splice|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	984					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)					CCCAACCAAGGGAAGGCATCC	0.547000													38	91					0	0	0.00111076	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320136	79320136	+	Missense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:79320136A>T	ENST00000419573.3	-	9	1602	c.1328T>A	c.(1327-1329)aTc>aAc	p.I443N	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I443N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	443					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCTTCGATGATCATGCGCTC	0.567000													37	83					0	0	0.000509022	0	0
VWF	7450	broad.mit.edu	37	12	6125965	6125965	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:6125965C>T	ENST00000261405.5	-	29	5379	c.5125G>A	c.(5125-5127)Gaa>Aaa	p.E1709K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1709	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTCATTTCATCAAAATAA	0.507000													31	84					0	0	0.000409698	0	0
SDK2	54549	broad.mit.edu	37	17	71357873	71357873	+	Missense_Mutation	SNP	A	A	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:71357873A>C	ENST00000392650.3	-	39	5417	c.5417T>G	c.(5416-5418)tTc>tGc	p.F1806C	SDK2_ENST00000388726.3_Missense_Mutation_p.F1787C|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1806	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCCGTAGGTGAAGGTCTTGGC	0.632000													14	17					0	0	0.000308642	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143586	48143586	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:48143586C>T	ENST00000405493.2	-	9	915	c.706G>A	c.(706-708)Gac>Aac	p.D236N	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D278N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D278N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D236N|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D278N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D236N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D236N	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	236					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTGCCCTTGTCCCCCTGGCTG	0.602000													27	61					0	0	0.000720815	0	0
PRB3	5544	broad.mit.edu	37	12	11420589	11420589	+	RNA	SNP	T	T	C	rs71057717		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:11420589T>C	ENST00000381842.3	-	0	631				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCGGACGAGGTGGGGGACCTT	0.637000													6	197					0	0	8.12818e-05	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147773	70147773	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:70147773G>A	ENST00000374299.3	-	6	1062	c.918C>T	c.(916-918)ctC>ctT	p.L306L	SLC7A3_ENST00000298085.4_Silent_p.L306L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	306					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCATCAGGGTGAGTGCAGAAG	0.527000													6	23					0	0	0.00116845	0	0
HRNR	388697	broad.mit.edu	37	1	152187041	152187041	+	Missense_Mutation	SNP	G	G	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:152187041G>T	ENST00000368801.2	-	3	7139	c.7064C>A	c.(7063-7065)aCt>aAt	p.T2355N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2355					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGCTGAGTGTAACCAGA	0.557000													85	654					1.7666e-45	1.31033e-44	0.000781405	1	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:61802491C>T	ENST00000280772.1	-	43	13283	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T|ANK3_ENST00000373827.2_Silent_p.T1848T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4364					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						TTTCTTTCTTCGTTTTCACCT	0.398000													21	62					0	0	0.000375601	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830505	7830505	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:7830505C>T	ENST00000359059.5	+	3	251	c.133C>T	c.(133-135)Cct>Tct	p.P45S	CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P45S|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P45S|CLEC4M_ENST00000394122.2_Intron	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	66					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						aattgcagttcCTTTTCTTCT	0.493000													13	41					0	0	0.00136819	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037099	129037099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:129037099G>A	ENST00000274487.4	+	20	3100	c.2955G>A	c.(2953-2955)tgG>tgA	p.W985*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	985	TSP type-1 3.				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)		TGACAGAATGGACCCCTTGTT	0.438000													13	69					0	0	0.000566183	0	0
ALMS1	7840	broad.mit.edu	37	2	73747010	73747010	+	Silent	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:73747010T>C	ENST00000264448.6	+	11	9756	c.9645T>C	c.(9643-9645)tcT>tcC	p.S3215S	ALMS1_ENST00000409009.1_Silent_p.S3173S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3215					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						TATTTTCATCTGAGATTTTTA	0.398000													19	41					0	0	0.000229342	0	0
BRD4	23476	broad.mit.edu	37	19	15366921	15366921	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:15366921G>A	ENST00000263377.2	-	9	1926	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	BRD4_ENST00000371835.4_Missense_Mutation_p.P569S|BRD4_ENST00000360016.5_Missense_Mutation_p.P569S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	569	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tttttaggaggaggttccttg	0.428000			T	C15orf55	lethal midline carcinoma of young people								9	17					0	0	0.000274275	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008156	41008156	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:41008156C>T	ENST00000352632.3	+	9	1105	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	SPTBN4_ENST00000338932.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S340F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	340					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.S340F(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGCCAACTCCTTAAGTGGG	0.602000													16	64					0	0	0.000308642	0	0
DLST	1743	broad.mit.edu	37	14	75367876	75367876	+	Silent	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:75367876T>C	ENST00000334220.4	+	14	1228	c.1167T>C	c.(1165-1167)ccT>ccC	p.P389P	DLST_ENST00000334212.6_Silent_p.P303P	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	389					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCAACCCCCCTCAGTCTGCCA	0.512000													19	51					0	0	0.00152264	0	0
AQP6	363	broad.mit.edu	37	12	50367208	50367208	+	Silent	SNP	C	C	T	rs147805945		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:50367208C>T	ENST00000315520.5	+	1	589	c.252C>T	c.(250-252)gcC>gcT	p.A84A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	84					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCAACCCCGCCGTGACGCTGG	0.672000													15	33					0	0	0.000958276	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736569	20736569	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:20736569G>A	ENST00000427401.4	-	2	170	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF737_ENST00000596797.1_Missense_Mutation_p.R26W	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TATAAATTCCGCTGTGCAGTG	0.393000													10	95					0	0	0.00136819	0	0
RADIL	55698	broad.mit.edu	37	7	4871806	4871806	+	Missense_Mutation	SNP	T	T	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:4871806T>G	ENST00000399583.3	-	5	1607	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	RADIL_ENST00000536091.1_Missense_Mutation_p.K474Q|RADIL_ENST00000538469.1_Missense_Mutation_p.K234Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	474					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCTTTGGTTTTCTCCTACAAT	0.517000													9	12					0	0	0.000673444	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841397	8841397	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:8841397G>A	ENST00000324060.2	+	1	82	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACATGGGGGATGTGAATCA	0.498000													11	29					0	0	0.000978159	0	0
ITGA4	3676	broad.mit.edu	37	2	182346331	182346331	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:182346331C>T	ENST00000397033.2	+	7	1191	c.761C>T	c.(760-762)tCa>tTa	p.S254L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	254					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAAGGATATTCAGTCGGAGCT	0.373000													10	23					0	0	0.000978159	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008157	41008157	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:41008157C>T	ENST00000352632.3	+	9	1106	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	SPTBN4_ENST00000338932.3_Silent_p.S340S|SPTBN4_ENST00000595535.1_Silent_p.S340S|SPTBN4_ENST00000598249.1_Silent_p.S340S|SPTBN4_ENST00000344104.3_Silent_p.S340S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	340					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGCCAACTCCTTAAGTGGGG	0.602000													16	64					0	0	0.000308642	0	0
BCOR	54880	broad.mit.edu	37	X	39932638	39932638	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:39932638G>A	ENST00000342274.4	-	4	2323	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	BCOR_ENST00000397354.3_Missense_Mutation_p.P654L|BCOR_ENST00000378444.4_Missense_Mutation_p.P654L|BCOR_ENST00000378455.4_Missense_Mutation_p.P654L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	654	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTAACTCCTGGGGTAGGGAAT	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	22					0	0	8.12818e-05	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776386	159776386	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:159776386C>T	ENST00000393975.3	-	3	785	c.782G>A	c.(781-783)gGc>gAc	p.G261D		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	216	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGTACTGGCCGTTGTGCAC	0.607000													6	36					0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3224606	3224606	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:3224606C>T	ENST00000520002.1	-	21	3621	c.3066G>A	c.(3064-3066)cgG>cgA	p.R1022R	CSMD1_ENST00000542608.1_Silent_p.R1021R|CSMD1_ENST00000537824.1_Silent_p.R1021R|CSMD1_ENST00000539096.1_Silent_p.R1021R|CSMD1_ENST00000602723.1_Silent_p.R1022R|CSMD1_ENST00000400186.3_Silent_p.R1022R|CSMD1_ENST00000602557.1_Silent_p.R1022R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1022	CUB 6.					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)		CTGATATAAACCGAAGCTGGG	0.488000													5	25					0	0	8.12818e-05	0	0
OPN4	94233	broad.mit.edu	37	10	88419746	88419746	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:88419746C>T	ENST00000372071.2	+	7	1155	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	OPN4_ENST00000241891.5_Silent_p.L299L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	299					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAAGATCATGCTGCTGGTCAT	0.622000													12	22					0	0	0.000219431	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49280991	49280991	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:49280991C>T	ENST00000282018.3	+	1	41	c.38C>T	c.(37-39)tCc>tTc	p.S13F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	13					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CCATCCATCTCCGTATCAGAA	0.373000													37	44					0	0	0.000589545	0	0
HRNR	388697	broad.mit.edu	37	1	152187040	152187040	+	Silent	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:152187040A>T	ENST00000368801.2	-	3	7140	c.7065T>A	c.(7063-7065)acT>acA	p.T2355T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2355					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATGCTGAGTGTAACCAG	0.557000													83	643					0	0	0.000781405	0	0
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:111317000C>T	ENST00000352690.4	+	6	1081	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	CD96_ENST00000283285.5_Missense_Mutation_p.P297S|CD96_ENST00000438817.2_Missense_Mutation_p.P281S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323000									Opitz Trigonocephaly syndrome				98	186					0	0	0.000781405	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709924	44709924	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:44709924C>T	ENST00000509756.1	-	6	720	c.614G>A	c.(613-615)gGg>gAg	p.G205E	GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000507534.1_Missense_Mutation_p.G135E|GNPDA2_ENST00000507917.1_Missense_Mutation_p.G171E|GNPDA2_ENST00000295448.3_Missense_Mutation_p.G205E			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	205					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CTTGTGTGCCCCTGTTATAAG	0.378000													16	30					0	0	0.00152264	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763310	140763310	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:140763310C>T	ENST00000518325.1	+	1	844	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATTCTTTTCGGAAAATAAC	0.423000													14	28					0	0	0.000219431	0	0
VNN3	55350	broad.mit.edu	37	6	133044077	133044077	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:133044077C>T	ENST00000207771.3	-	8	1563	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000414302.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACTGGAATTTCCCAGATCCCT	0.473000													5	26					0	0	8.12818e-05	0	0
KCNC2	3747	broad.mit.edu	37	12	75444664	75444664	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:75444664G>A	ENST00000549446.1	-	3	1801	c.1121C>T	c.(1120-1122)aCt>aTt	p.T374I	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.T374I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T374I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T374I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T374I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T374I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T374I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T374I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	374					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						AGCTCGAAGAGTATGTCCAAG	0.443000													9	34					0	0	0.000978159	0	0
TRPC5	7224	broad.mit.edu	37	X	111195594	111195594	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:111195594G>A	ENST00000262839.2	-	2	973	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	19					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATTTGCAGGGGGATGCGGTCT	0.517000													11	33					0	0	0.000978159	0	0
DENND4A	10260	broad.mit.edu	37	15	65988718	65988718	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:65988718G>A	ENST00000443035.3	-	22	3280	c.3065C>T	c.(3064-3066)tCa>tTa	p.S1022L	DENND4A_ENST00000431932.2_Missense_Mutation_p.S979L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCTTTCTCCTGATATTTTACC	0.358000													28	51					0	0	0.00178596	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679276	150679276	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:150679276G>A	ENST00000368993.2	-	10	662	c.557C>T	c.(556-558)cCa>cTa	p.P186L	HORMAD1_ENST00000368995.4_Missense_Mutation_p.P106L|HORMAD1_ENST00000361824.2_Missense_Mutation_p.P186L|HORMAD1_ENST00000322343.7_Missense_Mutation_p.P179L			Q86X24	HORM1_HUMAN	HORMA domain containing 1	186	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTAATCTGGGGGTGTAAC	0.353000													38	22					0	0	0.00170553	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826330	34826330	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:34826330C>T	ENST00000192788.5	+	14	2368	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R733C	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	733										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCTACCCCTCCGCTGGCAGCA	0.552000													6	20					0	0	8.12818e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78973505	78973505	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:78973505C>T	ENST00000545128.1	+	37	5788	c.5250C>T	c.(5248-5250)tcC>tcT	p.S1750S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCACCTCCTCCATGATGCTGG	0.532000													26	13					0	0	0.000720815	0	0
VIL1	7429	broad.mit.edu	37	2	219294086	219294086	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:219294086G>A	ENST00000248444.5	+	7	734	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.E216K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	216	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAGAGAATGAATTGGCATC	0.647000													18	40					0	0	0.00121646	0	0
RYR3	6263	broad.mit.edu	37	15	34140564	34140564	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:34140564G>A	ENST00000389232.4	+	94	13640	c.13570G>A	c.(13570-13572)Gaa>Aaa	p.E4524K	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.E4519K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4524					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E4523K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATATCACCGAACAGCCATC	0.498000													9	77					0	0	0.000442599	0	0
MFSD9	84804	broad.mit.edu	37	2	103335191	103335191	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:103335191G>A	ENST00000258436.5	-	6	1156	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	371					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCATGGTGGGGGCCAAGGAGT	0.612000													6	17					0	0	0.000157383	0	0
KRT23	25984	broad.mit.edu	37	17	39092676	39092676	+	Silent	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39092676A>G	ENST00000209718.3	-	2	604	c.180T>C	c.(178-180)ggT>ggC	p.G60G	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	60	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCTTCCAGAACCCCAAGACC	0.667000													29	41					0	0	0.00178596	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475866	89475866	+	RNA	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:89475866C>T	ENST00000484817.1	-	0	335																											CAGCTTCCACCCTGCTGATTT	0.493000													30	50					0	0	0.00058488	0	0
EDC4	23644	broad.mit.edu	37	16	67913551	67913551	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:67913551C>T	ENST00000358933.5	+	15	1934	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	565					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCACGGCTCCCAGCCTGACC	0.607000													12	32					0	0	0.000978159	0	0
TFDP3	51270	broad.mit.edu	37	X	132351449	132351449	+	Missense_Mutation	SNP	A	A	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:132351449A>C	ENST00000310125.4	-	1	927	c.839T>G	c.(838-840)tTt>tGt	p.F280C		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	280	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTAAACTTAAACAGATATTC	0.493000													14	127					0	0	0.000308642	0	0
LIN52	91750	broad.mit.edu	37	14	74564499	74564499	+	Silent	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:74564499T>C	ENST00000555028.1	+	4	314	c.147T>C	c.(145-147)ccT>ccC	p.P49P	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	49										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		TTTGACAGCCTATTACTAGTT	0.408000													7	22					0	0	0.000442599	0	0
MAGED1	9500	broad.mit.edu	37	X	51640148	51640148	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:51640148G>A	ENST00000375695.2	+	5	1718	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	MAGED1_ENST00000375722.1_Missense_Mutation_p.R466Q|MAGED1_ENST00000326587.7_Missense_Mutation_p.R466Q|MAGED1_ENST00000375772.3_Missense_Mutation_p.R466Q|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	466	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCACAGCCCCGAGATGTGGCC	0.547000										Multiple Myeloma(10;0.10)			7	24					0	0	0.000274275	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688508	26688508	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:26688508G>A	ENST00000529632.2	+	2	427	c.231G>A	c.(229-231)gcG>gcA	p.A77A	SEZ6L_ENST00000248933.6_Silent_p.A77A|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.A77A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.A77A|SEZ6L_ENST00000360929.3_Silent_p.A77A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	77						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACAGTCGGCGGAAGTGCTGG	0.652000													5	10					0	0	0.00116845	0	0
ASPHD2	57168	broad.mit.edu	37	22	26838430	26838430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:26838430A>T	ENST00000215906.5	+	3	1330	c.892A>T	c.(892-894)Aaa>Taa	p.K298*		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	298					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						ACAAGGTCTGAAAACTCCAAA	0.532000													47	102					0	0	0.000781405	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195441	80195441	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:80195441C>T	ENST00000581287.1	+	3	3117	c.795C>T	c.(793-795)ttC>ttT	p.F265F	SLC16A3_ENST00000392339.1_Silent_p.F265F|SLC16A3_ENST00000392341.1_Silent_p.F265F|SLC16A3_ENST00000582743.1_Silent_p.F265F	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	265					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	AGGCCGCCTTCCTGCTCACCA	0.682000													7	39					0	0	0.000274275	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200805	8200805	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:8200805C>T	ENST00000162391.3	+	7	2290	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.P382L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	382					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CAGCACCATCCCCACTCCCAC	0.627000													6	13					0	0	0.00116845	0	0
OR5T1	390155	broad.mit.edu	37	11	56043751	56043751	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr11:56043751T>C	ENST00000313033.2	+	1	723	c.637T>C	c.(637-639)Tac>Cac	p.Y213H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y213H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTCTTCTACTTTGTGGG	0.418000													19	128					0	0	0.000958276	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443631	17443631	+	RNA	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr21:17443631C>T	ENST00000458468.1	+	0	225					NR_027790.1																						CAACCGCTGCCCGAGCAGGCA	0.522000													4	45					0	0	0.00024832	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			97	63					0	0	0.000781405	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:163215G>A	ENST00000606975.1	-	0	706																											AGATACACATGTATTTAGAGT	0.323000													6	43					0	0	0.000442599	0	0
PPP6C	5537	broad.mit.edu	37	9	127915952	127915952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:127915952G>A	ENST00000451402.1	-	7	860	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R155*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.R30*|PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R177*	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	177					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCGATGGTTCGAATTTGATCC	0.408000													22	21					0	0	0.000295444	0	0
PARP12	64761	broad.mit.edu	37	7	139734127	139734127	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:139734127G>A	ENST00000263549.3	-	8	2202	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	443	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTTTCTGAACGAAGGCTGAAA	0.378000													9	23					0	0	0.000442599	0	0
C6orf47	57827	broad.mit.edu	37	6	31627574	31627574	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:31627574C>T	ENST00000375911.1	-	1	975	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	51										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CCCACATCTTCCATGGTTTCT	0.577000													27	169					0	0	0.000878237	0	0
KCNH6	81033	broad.mit.edu	37	17	61622553	61622553	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:61622553C>T	ENST00000583023.1	+	13	2630	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	KCNH6_ENST00000581784.1_Silent_p.A784A|KCNH6_ENST00000456941.2_Silent_p.A784A|KCNH6_ENST00000314672.5_Silent_p.A837A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	873					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGACCTGGCCTTGGTTCCTA	0.632000													9	61					0	0	0.000274275	0	0
NUTM1	256646	broad.mit.edu	37	15	34648262	34648262	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:34648262G>A	ENST00000537011.1	+	8	2435	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	NUTM1_ENST00000333756.4_Missense_Mutation_p.G657R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G675R					NUT midline carcinoma, family member 1																		GCAAGTCCTGGGATTGCAGAA	0.567000													9	38					0	0	0.000442599	0	0
PLEC	5339	broad.mit.edu	37	8	144999609	144999609	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:144999609G>A	ENST00000322810.4	-	31	5068	c.4899C>T	c.(4897-4899)gcC>gcT	p.A1633A	PLEC_ENST00000436759.2_Silent_p.A1523A|PLEC_ENST00000398774.2_Silent_p.A1464A|PLEC_ENST00000354958.2_Silent_p.A1474A|PLEC_ENST00000345136.3_Silent_p.A1496A|PLEC_ENST00000357649.2_Silent_p.A1500A|PLEC_ENST00000527096.1_Silent_p.A1519A|PLEC_ENST00000354589.3_Silent_p.A1496A|PLEC_ENST00000356346.3_Silent_p.A1482A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1633	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAAGCGCTCGGCCTCCTCCT	0.741000													5	11					0	0	0.000602214	0	0
OCRL	4952	broad.mit.edu	37	X	128696746	128696746	+	Missense_Mutation	SNP	G	G	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:128696746G>T	ENST00000371113.4	+	12	1392	c.1227G>T	c.(1225-1227)ttG>ttT	p.L409F	OCRL_ENST00000357121.5_Missense_Mutation_p.L409F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCCCGCAGTTGAACATCATGA	0.433000													14	66					4.3838e-07	3.21687e-06	0.000151284	1	0
SORCS2	57537	broad.mit.edu	37	4	7716002	7716002	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:7716002C>T	ENST00000507866.2	+	16	2134	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	SORCS2_ENST00000329016.9_Silent_p.F503F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	675						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGAAGTTTCCGGAAAAGAA	0.602000													8	3					0	0	0.000673444	0	0
PTPN4	5775	broad.mit.edu	37	2	120723176	120723176	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:120723176G>A	ENST00000263708.2	+	25	3284	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	PTPN4_ENST00000544261.1_Missense_Mutation_p.R471Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	838	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TGTCATGTACGAAACAAGAGG	0.438000													12	32					0	0	0.00136819	0	0
ZCRB1	85437	broad.mit.edu	37	12	42707759	42707759	+	Silent	SNP	C	C	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:42707759C>G	ENST00000266529.3	-	6	546	c.363G>C	c.(361-363)ccG>ccC	p.P121P	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Silent_p.P80P	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	121					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GCATATTTTTCGGACAGGCAT	0.328000													11	40					0	0	0.000422831	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000													35	67					0	0	0.000953801	0	0
TTN	7273	broad.mit.edu	37	2	179587136	179587136	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179587136T>C	ENST00000589042.1	-	77	22602	c.22378A>G	c.(22378-22380)Aga>Gga	p.R7460G	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6216G|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R7143G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7143	Ig-like 56.						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)			TCATCGTCTCTTAAAAGTACT	0.413000													13	49					0	0	0.00136819	0	0
MSL3	10943	broad.mit.edu	37	X	11782035	11782035	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:11782035G>A	ENST00000337339.2	+	8	913	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	MSL3_ENST00000361672.2_Missense_Mutation_p.E147K|MSL3_ENST00000312196.4_Missense_Mutation_p.E296K|MSL3_ENST00000380693.3_Missense_Mutation_p.E130K|MSL3_ENST00000398527.2_Missense_Mutation_p.E284K	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	296					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCCAATTAAGGAAAGTGCCAC	0.373000													14	79					0	0	0.000308642	0	0
GP1BA	2811	broad.mit.edu	37	17	4836484	4836484	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:4836484C>T	ENST00000329125.5	+	2	660	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	195										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CCCTTCTCCTCCAAGAGAACT	0.532000													11	35					0	0	0.000151284	0	0
C7	730	broad.mit.edu	37	5	40959662	40959662	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:40959662C>T	ENST00000313164.9	+	12	1960	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	534	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.S534C(1)					Ovarian(839;0.0112)				GGTGGGAGATCCTGCGTTGGA	0.547000													5	4					0	0	0.000602214	0	0
SPPL3	121665	broad.mit.edu	37	12	121202819	121202819	+	Missense_Mutation	SNP	G	G	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:121202819G>C	ENST00000353487.2	-	11	1641	c.1138C>G	c.(1138-1140)Cga>Gga	p.R380G		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	381	Poly-Ser.					integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGGAATCGGGAGCTGCTG	0.507000													11	31					0	0	0.000673444	0	0
CHAF1B	8208	broad.mit.edu	37	21	37771827	37771827	+	Missense_Mutation	SNP	G	G	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr21:37771827G>T	ENST00000314103.4	+	7	738	c.587G>T	c.(586-588)cGa>cTa	p.R196L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	196					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						AGGGTGCTGCGAGTATACAGT	0.398000													5	84					0.00116845	0.00845381	0.00116845	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:106814337C>T	ENST00000407775.2	+	8	2277	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000													7	28					0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152285831	152285831	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:152285831C>T	ENST00000368799.1	-	3	1566	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	511	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)			TCCTGACCCTCTTGGGACGCT	0.607000									Ichthyosis				206	146					0	0	0.000781405	0	0
ZNF470	388566	broad.mit.edu	37	19	57088659	57088659	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:57088659G>A	ENST00000330619.8	+	6	1548	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ZNF470_ENST00000391709.3_Missense_Mutation_p.E288K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGTACTGAATGTGGGAA	0.418000													17	62					0	0	0.00152264	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675372	31675372	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:31675372C>A	ENST00000503322.1	+	2	193	c.190C>A	c.(190-192)Caa>Aaa	p.Q64K	LY6G6F_ENST00000556581.1_Missense_Mutation_p.Q64K|LY6G6F_ENST00000375832.4_Missense_Mutation_p.Q64K|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							CCTGGTAGCCCAAGTCCAAGT	0.577000													8	213					0.000274275	0.00199843	0.000274275	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128901630	128901630	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:128901630C>T	ENST00000371106.3	+	20	1984	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	598					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCCCTATGACCGGAACCTCAT	0.582000													5	98					0	0	8.12818e-05	0	0
SUN3	256979	broad.mit.edu	37	7	48048663	48048663	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:48048663G>A	ENST00000453192.2	-	5	505	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	SUN3_ENST00000297325.4_Missense_Mutation_p.R100C|SUN3_ENST00000395572.2_Missense_Mutation_p.R100C|SUN3_ENST00000412142.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	100						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGGCATACGAAGTCTGGCC	0.338000													38	67					0	0	0.00128727	0	0
MMAA	166785	broad.mit.edu	37	4	146563584	146563584	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:146563584G>A	ENST00000281317.5	+	3	1719	c.509G>A	c.(508-510)aGa>aAa	p.R170K	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	170						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.R170I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTACTGAGAGAGGGCACAAA	0.428000													18	138					0	0	0.000958276	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261120	21261120	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:21261120C>T	ENST00000311620.5	+	2	306	c.233C>T	c.(232-234)gCc>gTc	p.A78V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	78										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AATGGCCATGCCCACTGCGTC	0.493000													8	60					0	0	0.000157383	0	0
CFAP54	144535	broad.mit.edu	37	12	97137828	97137828	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:97137828C>T	ENST00000524981.3	+	22	2941	c.2941C>T	c.(2941-2943)Cgt>Tgt	p.R981C				Q6ZTY8	CL063_HUMAN		955										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATTGAATTTCGTTCATCAAA	0.308000													11	30					0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766201	77766201	+	Missense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:77766201A>T	ENST00000521891.2	+	10	7492	c.7044A>T	c.(7042-7044)caA>caT	p.Q2348H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2322H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2303H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2303H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2303	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGAAAGCCAAACAGAAGACT	0.458000										HNSCC(33;0.089)			32	109					0	0	0.000692331	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623699	46623699	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:46623699C>T	ENST00000371347.5	+	2	478	c.226C>T	c.(226-228)Cta>Tta	p.L76L	SLC25A27_ENST00000411689.2_Silent_p.L76L|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	76					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCGCACAGCTCTAGGGATCAT	0.488000													38	72					0	0	0.00128727	0	0
RBBP8	5932	broad.mit.edu	37	18	20573769	20573769	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr18:20573769C>T	ENST00000399722.2	+	12	2249	c.1898C>T	c.(1897-1899)cCa>cTa	p.P633L	RBBP8_ENST00000399725.2_Missense_Mutation_p.P633L|RBBP8_ENST00000327155.5_Missense_Mutation_p.P633L|RBBP8_ENST00000360790.5_Missense_Mutation_p.P633L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	633					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGTTAAATCCATGTAGAACT	0.358000								Homologous recombination					15	23					0	0	0.000422831	0	0
PIGU	128869	broad.mit.edu	37	20	33232014	33232014	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:33232014G>A	ENST00000374820.2	-	3	232	c.212C>T	c.(211-213)aCt>aTt	p.T71I	PIGU_ENST00000452740.2_Missense_Mutation_p.T91I			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	91					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGCAATAGCAGTGAGTGCATC	0.413000													19	105					0	0	0.00121646	0	0
SYT16	83851	broad.mit.edu	37	14	62542093	62542093	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:62542093C>T	ENST00000430451.2	+	3	1174	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.S326F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	326										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACAGCTCCTCCATGTGGAGT	0.473000													15	80					0	0	0.000422831	0	0
CCR2	729230	broad.mit.edu	37	3	46399716	46399716	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:46399716G>A	ENST00000292301.4	+	2	1183	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	CCR2_ENST00000445132.2_Missense_Mutation_p.R233Q|CCR2_ENST00000400888.2_Missense_Mutation_p.R233Q|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	233					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTTCGGTGTCGAAACGAGAAG	0.458000													36	277					0	0	0.00170553	0	0
PRR12	57479	broad.mit.edu	37	19	50097782	50097782	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:50097782C>T	ENST00000418929.2	+	3	283	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	492	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGTCATGAACCTTATCTCGGC	0.667000													13	57					0	0	0.000308642	0	0
LRP1	4035	broad.mit.edu	37	12	57588387	57588387	+	Missense_Mutation	SNP	A	A	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:57588387A>C	ENST00000243077.3	+	50	8562	c.8096A>C	c.(8095-8097)aAt>aCt	p.N2699T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2699	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCCTCTGAATTACTTCGCC	0.642000													13	34					0	0	0.000308642	0	0
OR4M2	390538	broad.mit.edu	37	15	22369163	22369163	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:22369163G>A	ENST00000332663.2	+	1	686	c.588G>A	c.(586-588)gaG>gaA	p.E196E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCCAGAGGAGTTAGTGATGA	0.463000													69	308					0	0	0.000781405	0	0
ATP7B	540	broad.mit.edu	37	13	52548094	52548094	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:52548094C>T	ENST00000242839.4	-	2	1418	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.G310E|ATP7B_ENST00000400370.3_Missense_Mutation_p.G421E|ATP7B_ENST00000344297.5_Missense_Mutation_p.G421E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G421E|ATP7B_ENST00000448424.2_Missense_Mutation_p.G421E|ATP7B_ENST00000542656.1_Missense_Mutation_p.G389E	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	421	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGCCTCAAATCCCATGTCTTC	0.453000									Wilson disease				39	33					0	0	0.000509022	0	0
ZNF285	26974	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:44892134G>A	ENST00000330997.4	-	4	337	c.273C>T	c.(271-273)atC>atT	p.I91I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.I98I|ZNF285_ENST00000544719.2_Silent_p.I91I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGGTTCACGATATAATCCT	0.418000													17	73					0	0	0.000958276	0	0
COG4	25839	broad.mit.edu	37	16	70553588	70553588	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:70553588G>A	ENST00000323786.5	-	2	239	c.218C>T	c.(217-219)aCc>aTc	p.T73I	COG4_ENST00000564653.1_Missense_Mutation_p.T73I|COG4_ENST00000393612.4_Missense_Mutation_p.T69I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	69	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACTTTCAATGGTGTTTTGCTG	0.453000													19	28					0	0	0.000958276	0	0
INHBA	3624	broad.mit.edu	37	7	41730045	41730045	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:41730045G>A	ENST00000242208.4	-	3	730	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P162S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	162					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGGCCTTGGGGACTTTTAGG	0.577000										TSP Lung(11;0.080)			13	51					0	0	0.000308642	0	0
BAGE2	85319	broad.mit.edu	37	21	11058339	11058339	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr21:11058339G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGGGTAAAGGAGAGAAATCT	0.368000													6	122					0	0	8.12818e-05	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512845	101512845	+	RNA	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:101512845C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CATGTCGAATCGTACAGGGTC	0.488000													7	29					0	0	0.000274275	0	0
COL4A6	1288	broad.mit.edu	37	X	107457458	107457458	+	Splice_Site	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:107457458C>T	ENST00000394872.2	-	7	553	c.321_splice	c.e7-1	p.G108_splice	COL4A6_ENST00000545689.1_Splice_Site_p.G109_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G109_splice|COL4A6_ENST00000372216.4_Splice_Site_p.G110_splice|COL4A6_ENST00000334504.7_Splice_Site_p.G109_splice			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	110	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGGTGGCCCTGTTCAAAG	0.517000									Alport syndrome with Diffuse Leiomyomatosis				14	77					0	0	0.00074312	0	0
COL4A6	1288	broad.mit.edu	37	X	107464486	107464486	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:107464486C>T	ENST00000394872.2	-	4	494	c.263G>A	c.(262-264)gGa>gAa	p.G88E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G88E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G88E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G89E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G88E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	89	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTTTGGTCCATAAGGTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				22	106					0	0	0.000375601	0	0
PSG6	5675	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:43411107C>T	ENST00000187910.2	-	5	1272	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG6_ENST00000292125.2_Missense_Mutation_p.E403K|PSG6_ENST00000402603.4_Missense_Mutation_p.E310K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGGAGATTTCCTTGCCAGTG	0.448000													103	178					0	0	0.000781405	0	0
EDNRB	1910	broad.mit.edu	37	13	78477733	78477733	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:78477733C>T	ENST00000377211.4	-	3	915	c.763G>A	c.(763-765)Gag>Aag	p.E255K	EDNRB_ENST00000446573.1_Missense_Mutation_p.E165K|EDNRB_ENST00000334286.5_Missense_Mutation_p.E165K	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGCCAGTCCTCTGCCAGCAGC	0.463000													5	57					0	0	0.000602214	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69397495	69397495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:69397495G>A	ENST00000333026.3	+	1	163	c.63G>A	c.(61-63)tgG>tgA	p.W21*		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	21					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGCAATGGATCCCAGTCT	0.493000													11	47					0	0	0.000151284	0	0
TBX3	6926	broad.mit.edu	37	12	115109947	115109947	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:115109947G>A	ENST00000349155.2	-	7	2834	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	TBX3_ENST00000257566.3_Missense_Mutation_p.S644F	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	644	Transcription repression.			SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1).	anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CACCGGGATGGAGTAGGGGCT	0.741000													3	3					0	0	6.4e-05	0	0
CUTA	51596	broad.mit.edu	37	6	33385045	33385045	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:33385045G>A	ENST00000374500.5	-	3	488	c.357C>T	c.(355-357)atC>atT	p.I119I	CUTA_ENST00000607266.1_Silent_p.I77I|CUTA_ENST00000374496.3_Silent_p.I77I|CUTA_ENST00000488478.1_Silent_p.I100I|CUTA_ENST00000440279.3_Silent_p.I77I|CUTA_ENST00000494751.1_Silent_p.I77I|CUTA_ENST00000488034.1_Silent_p.I100I	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	100					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TAATCTGAGGGATGAGGTTGA	0.532000													5	54					0	0	0.00116845	0	0
SPP1	6696	broad.mit.edu	37	4	88902728	88902728	+	Silent	SNP	C	C	T	rs150169219		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:88902728C>T	ENST00000237623.7	+	5	424	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Silent_p.N106N|SPP1_ENST00000360804.4_Silent_p.N79N	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	106					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TTGACTCGAACGACTCTGATG	0.463000													25	181					0	0	0.000586117	0	0
APOBEC1	339	broad.mit.edu	37	12	7805412	7805412	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:7805412C>T	ENST00000229304.4	-	3	84	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	22					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACGTCAAACTCCCAGGGTTCG	0.478000													16	54					0	0	0.000958276	0	0
F8	2157	broad.mit.edu	37	X	154157824	154157824	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:154157824G>A	ENST00000360256.4	-	14	4441	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1414	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGATGGAAATGATGATACCTT	0.423000													27	71					0	0	0.000720815	0	0
CFH	3075	broad.mit.edu	37	1	196714956	196714956	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:196714956G>A	ENST00000367429.4	+	21	3560	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATTCTACAGGAAAATGTGGG	0.398000													62	58					0	0	0.000781405	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543721	141543721	+	Missense_Mutation	SNP	G	G	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:141543721G>C	ENST00000442267.2	-	21	3503	c.3429C>G	c.(3427-3429)aaC>aaG	p.N1143K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1143						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)				AGCAGGCCCCGTTGTCCCGGG	0.637000													14	77					0	0	0.000566183	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543652	217543652	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:217543652G>A	ENST00000233813.4	-	2	1237	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	163					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAAACTTGGACTGGGTCAG	0.587000													15	35					0	0	0.000566183	0	0
TTLL4	9654	broad.mit.edu	37	2	219618933	219618933	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:219618933G>A	ENST00000392102.1	+	20	3761	c.3421G>A	c.(3421-3423)Ggc>Agc	p.G1141S	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.G1141S|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1077S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1141					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GACTCAAGCTGGCCTTTCCCC	0.512000													36	63					0	0	0.000814825	0	0
BEST3	144453	broad.mit.edu	37	12	70087558	70087558	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:70087558C>T	ENST00000330891.5	-	4	603	c.377G>A	c.(376-378)aGg>aAg	p.R126K	BEST3_ENST00000266661.4_Missense_Mutation_p.R20K|BEST3_ENST00000551160.1_Missense_Mutation_p.R20K|BEST3_ENST00000331471.4_Missense_Mutation_p.R126K|BEST3_ENST00000393365.1_Missense_Mutation_p.R20K|BEST3_ENST00000553096.1_Missense_Mutation_p.R20K|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_5'UTR	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	126						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATCAGCGTCCTTCTAAGCAG	0.532000													12	30					0	0	0.000308642	0	0
CAGE1	285782	broad.mit.edu	37	6	7374052	7374052	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:7374052C>T	ENST00000502583.1	-	5	1564	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	CAGE1_ENST00000338150.4_Missense_Mutation_p.E334K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E334K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E334K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E198K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	334										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACCCTCTTCTCTAAATACAGG	0.353000													15	29					0	0	0.000566183	0	0
MYH4	4622	broad.mit.edu	37	17	10366889	10366889	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:10366889C>T	ENST00000255381.2	-	8	830	c.720G>A	c.(718-720)agG>agA	p.R240R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	240	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(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						AGTTGTCATTCCTCACGGTCT	0.438000													30	44					0	0	0.00058488	0	0
RBBP8	5932	broad.mit.edu	37	18	20573768	20573768	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr18:20573768C>T	ENST00000399722.2	+	12	2248	c.1897C>T	c.(1897-1899)Cca>Tca	p.P633S	RBBP8_ENST00000399725.2_Missense_Mutation_p.P633S|RBBP8_ENST00000327155.5_Missense_Mutation_p.P633S|RBBP8_ENST00000360790.5_Missense_Mutation_p.P633S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	633					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCAGTTAAATCCATGTAGAAC	0.358000								Homologous recombination					15	23					0	0	0.000422831	0	0
GPR22	2845	broad.mit.edu	37	7	107114812	107114812	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:107114812C>T	ENST00000304402.4	+	3	1650	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	103						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TATAGTTATCCTTCTGCTTTC	0.358000													34	104					0	0	0.000409698	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239865	114239865	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:114239865C>T	ENST00000371936.1	-	10	1260	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	IL13RA2_ENST00000243213.1_Silent_p.S337S			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	337						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.S337S(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGTTTTCTTCGATAGGTCTT	0.353000													12	49					0	0	0.000151284	0	0
CD99L2	83692	broad.mit.edu	37	X	149938784	149938784	+	Silent	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:149938784T>C	ENST00000370377.3	-	10	831	c.714A>G	c.(712-714)gaA>gaG	p.E238E	CD99L2_ENST00000355149.3_Silent_p.E166E|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.E189E|CD99L2_ENST00000437787.2_Silent_p.E165E	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	238					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTTGGGGTTCCTCACATA	0.537000													8	40					0	0	0.000673444	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735475	55735475	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr11:55735475G>A	ENST00000312345.2	-	1	515	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	155					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)					AGGGCAAAAGGAAAATTTGGC	0.388000													22	17					0	0	0.000295444	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287382	160287382	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:160287382G>A	ENST00000392783.2	-	10	2681	c.2186C>T	c.(2185-2187)cCa>cTa	p.P729L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P727L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P729L|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	729					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						ACCAGAGTGTGGGCTTGAAGT	0.408000													10	58					0	0	0.000442599	0	0
PEG3	5178	broad.mit.edu	37	19	57326708	57326708	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:57326708C>T	ENST00000326441.9	-	10	3465	c.3102G>A	c.(3100-3102)aaG>aaA	p.K1034K	PEG3_ENST00000423103.2_Silent_p.K1034K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.K910K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.K908K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1034					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCTGAAGTCCTTACATTTGT	0.463000													15	47					0	0	0.000219431	0	0
PRRG1	5638	broad.mit.edu	37	X	37312691	37312691	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:37312691C>T	ENST00000542554.1	+	5	746	c.474C>T	c.(472-474)tcC>tcT	p.S158S	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Silent_p.S158S|PRRG1_ENST00000378628.4_Silent_p.S158S|PRRG1_ENST00000543642.1_Silent_p.S158S|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	158						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTCAGATTCCGTCTCTACTC	0.517000													10	56					0	0	0.000978159	0	0
FREM1	158326	broad.mit.edu	37	9	14819293	14819293	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:14819293C>T	ENST00000380881.4	-	15	3303	c.2488G>A	c.(2488-2490)Gga>Aga	p.G830R	FREM1_ENST00000422223.2_Missense_Mutation_p.G829R|FREM1_ENST00000380880.3_Missense_Mutation_p.G829R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	829					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAGGAAATCCATTCAGCTCC	0.433000													15	16					0	0	0.000422831	0	0
GPR1	2825	broad.mit.edu	37	2	207041026	207041026	+	Missense_Mutation	SNP	G	G	A	rs142744381		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:207041026G>A	ENST00000407325.2	-	3	1308	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	GPR1_ENST00000437420.1_Missense_Mutation_p.R316W	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	316						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ACTGAGGACCGGAAGCGAGCT	0.488000													12	47					0	0	0.00136819	0	0
COQ4	51117	broad.mit.edu	37	9	131088142	131088142	+	Silent	SNP	C	C	T	rs111535641		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:131088142C>T	ENST00000300452.3	+	4	707	c.384C>T	c.(382-384)ctC>ctT	p.L128L	COQ4_ENST00000372875.3_Silent_p.L128L	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	128					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GCGAGTATCTCCGTTTCCTGG	0.572000													4	33					0	0	0.000602214	0	0
ANKFY1	51479	broad.mit.edu	37	17	4087198	4087198	+	Silent	SNP	A	A	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:4087198A>C	ENST00000341657.4	-	13	1742	c.1707T>G	c.(1705-1707)gcT>gcG	p.A569A	ANKFY1_ENST00000570535.1_Silent_p.A611A|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.A569A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	569						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGCATGAAGAGCATTGGCTA	0.453000													7	77					0	0	0.000274275	0	0
DEFB125	245938	broad.mit.edu	37	20	76875	76875	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:76875G>A	ENST00000382410.2	+	2	288	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	96					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATCTATGTTGAATGATCTGA	0.408000													15	110					0	0	0.000219431	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545497	196545497	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:196545497C>T	ENST00000409086.3	+	2	1006	c.731C>T	c.(730-732)tCt>tTt	p.S244F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.S244F|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	244					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AATGAAAATTCTGAGGTTATT	0.408000													7	28					0	0	0.000157383	0	0
CAD	790	broad.mit.edu	37	2	27465600	27465600	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:27465600C>T	ENST00000264705.4	+	41	6497	c.6335C>T	c.(6334-6336)cCa>cTa	p.P2112L	CAD_ENST00000403525.1_Missense_Mutation_p.P2049L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2112	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCGCATGCCACCCACTGTG	0.652000													13	25					0	0	0.000308642	0	0
SERINC3	10955	broad.mit.edu	37	20	43141631	43141631	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:43141631G>A	ENST00000342374.4	-	3	363	c.206C>T	c.(205-207)cCt>cTt	p.P69L	SERINC3_ENST00000255175.1_Missense_Mutation_p.P69L|SERINC3_ENST00000541235.1_Missense_Mutation_p.P14L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	69						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAAAATCCAGGAATCTGGAA	0.373000													6	52					0	0	0.00116845	0	0
DMXL2	23312	broad.mit.edu	37	15	51792048	51792048	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:51792048G>A	ENST00000251076.5	-	18	3660	c.3373C>T	c.(3373-3375)Ctt>Ttt	p.L1125F	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1125F|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1125						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAATCATCAAGATGAATTGTT	0.378000													8	32					0	0	0.000274275	0	0
AQP6	363	broad.mit.edu	37	12	50367207	50367207	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:50367207C>T	ENST00000315520.5	+	1	588	c.251C>T	c.(250-252)gCc>gTc	p.A84V	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	84					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GCCAACCCCGCCGTGACGCTG	0.672000													14	32					0	0	0.00074312	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481317	142481317	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3																						TCTGCCCACTGCCCCTCCAGC	0.547000													6	18					0	0	0.000157383	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101318	80101318	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:80101318C>T	ENST00000466387.1	+	10	1426	c.702C>T	c.(700-702)gcC>gcT	p.A234A	CTNNA2_ENST00000402739.4_Silent_p.A234A|CTNNA2_ENST00000540488.1_Silent_p.A234A|CTNNA2_ENST00000361291.4_Silent_p.A268A|CTNNA2_ENST00000541047.1_Silent_p.A234A|CTNNA2_ENST00000496558.1_Silent_p.A234A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGATGTCGCCGCTACGAGAG	0.577000													8	22					0	0	0.000978159	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626181	41626181	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:41626181G>A	ENST00000216237.5	+	17	2202	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	682					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTAGACGTGGCCTCGCCCGA	0.602000													15	50					0	0	0.00152264	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463554	25463554	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:25463554G>A	ENST00000424208.1	+	0	2869				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TCCACATGGAGGGTGGTCACA	0.552000													3	4					0	0	6.4e-05	0	0
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:128505667C>T	ENST00000368227.3	-	7	1438	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458000													12	71					0	0	0.000151284	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870325	47870325	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:47870325G>A	ENST00000396105.1	-	11	3229	c.2983C>T	c.(2983-2985)Cta>Tta	p.L995L	ZNFX1_ENST00000371752.1_Silent_p.L995L|ZNFX1_ENST00000371754.4_Silent_p.L995L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	995							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCTTCTGTAGGATCTGGCGG	0.552000													99	134					0	0	0.000781405	0	0
ERCC5	2073	broad.mit.edu	37	13	103520502	103520502	+	Missense_Mutation	SNP	T	T	C	rs121434575		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:103520502T>C	ENST00000355739.4	+	12	3996	c.2573T>C	c.(2572-2574)cTt>cCt	p.L858P	ERCC5_ENST00000375954.1_Missense_Mutation_p.L91P|BIVM-ERCC5_ENST00000602836.1_Silent_p.A1283A	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTTATTTGCTTGGAAGTGAT	0.343000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	100					0	0	0.000673444	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316976	72316976	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:72316976G>A	ENST00000340595.3	+	8	1344	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	SLC4A4_ENST00000351898.6_Missense_Mutation_p.G427E|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G383E|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G427E|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G427E	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	427						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGTCACGGAGGAGGAGGACAT	0.458000													10	86					0	0	0.00136819	0	0
ZNF99	7652	broad.mit.edu	37	19	22940885	22940885	+	Missense_Mutation	SNP	C	C	T	rs78202728		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:22940885C>T	ENST00000397104.3	-	5	1552	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ZNF99_ENST00000596209.1_Missense_Mutation_p.R609K					zinc finger protein 99									p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGATGTTTTCTAAGGGCTGA	0.373000													7	32					0	0	0.000673444	0	0
EBF2	64641	broad.mit.edu	37	8	25715842	25715842	+	Silent	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:25715842A>G	ENST00000520164.1	-	14	2058	c.1521T>C	c.(1519-1521)ccT>ccC	p.P507P	EBF2_ENST00000535548.1_Silent_p.P238P|EBF2_ENST00000408929.3_Silent_p.P359P	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	507	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TACTTCCATAAGGAGAGCCGG	0.473000													14	57					0	0	0.000566183	0	0
TPRX1	284355	broad.mit.edu	37	19	48305309	48305309	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:48305309G>A	ENST00000535759.1	-	4	1249	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	TPRX1_ENST00000322175.3_Missense_Mutation_p.P320L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P310L			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggattggagctgggac	0.622000													5	8					0	0	0.000602214	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766534	171766534	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:171766534C>T	ENST00000311601.5	-	13	1745	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	525					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGATTCTTTCCGCGGAGGGA	0.647000													6	37					0	0	0.00116845	0	0
MYLK	4638	broad.mit.edu	37	3	123419455	123419455	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:123419455G>A	ENST00000360772.3	-	19	3238	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	MYLK_ENST00000475616.1_Missense_Mutation_p.R954C|MYLK_ENST00000360304.3_Missense_Mutation_p.R954C|MYLK_ENST00000346322.5_Missense_Mutation_p.R885C|MYLK_ENST00000359169.1_Missense_Mutation_p.R954C			Q15746	MYLK_HUMAN	myosin light chain kinase	954	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGACAGAGCGAAAATCGACC	0.597000													18	34					0	0	0.00074312	0	0
PCDH10	57575	broad.mit.edu	37	4	134071330	134071330	+	Missense_Mutation	SNP	T	T	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:134071330T>G	ENST00000264360.4	+	1	861	c.35T>G	c.(34-36)aTg>aGg	p.M12R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTGCTCTGGATGGTGGAAGGA	0.517000													15	128					0	0	0.000422831	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142254733	142254733	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:142254733G>A	ENST00000378004.3	+	3	664	c.309G>A	c.(307-309)cgG>cgA	p.R103R	ARHGAP26_ENST00000274498.4_Silent_p.R103R	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	103					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGATACGGATGGTGAGTA	0.483000													14	60					0	0	0.000422831	0	0
NLRC5	84166	broad.mit.edu	37	16	57059751	57059751	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:57059751C>T	ENST00000436936.1	+	6	1121	c.896C>T	c.(895-897)gCt>gTt	p.A299V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A299V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A299V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A299V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	299	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGAAGAACGCTGACCAAGTC	0.557000													28	78					0	0	0.000878237	0	0
AP1G1	164	broad.mit.edu	37	16	71783811	71783811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:71783811C>A	ENST00000299980.4	-	15	1924	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	AP1G1_ENST00000393512.3_Nonsense_Mutation_p.E498*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.E498*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.E518*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.E495*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	495					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATAGGCTCTTCCTCTTCACAC	0.428000													65	210					7.33394e-39	5.42028e-38	0.000781405	1	0
SLC47A2	146802	broad.mit.edu	37	17	19611707	19611707	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:19611707G>A	ENST00000350657.5	-	7	711	c.537C>T	c.(535-537)atC>atT	p.I179I	SLC47A2_ENST00000325411.5_Silent_p.I215I|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	215						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GGGGCCAGGTGATCTTCTGAA	0.562000													25	58					0	0	0.000586117	0	0
KRT15	3866	broad.mit.edu	37	17	39674668	39674668	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39674668G>A	ENST00000254043.3	-	1	3997	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	KRT15_ENST00000393976.2_Missense_Mutation_p.H138Y|KRT15_ENST00000393981.3_5'UTR|KRT15_ENST00000393974.3_5'UTR	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	138	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TACCAGTCATGGATCTTCACC	0.542000													12	116					0	0	0.000151284	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21548918	21548918	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:21548918C>T	ENST00000298694.4	+	12	2600	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	825					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTGCGATTCCGTGCTTTCAG	0.637000													12	30					0	0	0.000308642	0	0
PTPRK	5796	broad.mit.edu	37	6	128403707	128403707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:128403707C>T	ENST00000368227.3	-	10	2018	c.1652G>A	c.(1651-1653)tGg>tAg	p.W551*	PTPRK_ENST00000368207.3_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.W551*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.W551*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.W551*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	551	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTACTGTTCCATAAATTTGA	0.438000													10	37					0	0	0.00136819	0	0
RNF2	6045	broad.mit.edu	37	1	185062287	185062287	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:185062287C>T	ENST00000367510.3	+	4	631	c.343C>T	c.(343-345)Cca>Tca	p.P115S	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	115	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CAAAATTTATCCAAGTCGTGA	0.408000													35	18					0	0	0.000491102	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479091	32479091	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:32479091C>T	ENST00000266088.4	+	7	864	c.614C>T	c.(613-615)aCc>aTc	p.T205I	SLC5A1_ENST00000543737.1_Missense_Mutation_p.T78I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	205					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.T205I(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TACACGGACACCTTGCAGACG	0.587000													7	43					0	0	0.000274275	0	0
KIAA2026	158358	broad.mit.edu	37	9	5969206	5969206	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:5969206G>A	ENST00000399933.3	-	3	1024	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S342L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	342										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATTATTTTCGATAGAAAAGC	0.418000													13	19					0	0	0.000151284	0	0
C2orf71	388939	broad.mit.edu	37	2	29294548	29294548	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:29294548C>T	ENST00000331664.5	-	1	2579	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	860					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGGGTTTCCTTGGGGGAGT	0.607000													23	37					0	0	0.00047179	0	0
COL5A3	50509	broad.mit.edu	37	19	10071188	10071188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:10071188G>A	ENST00000264828.3	-	67	5222	c.5137C>T	c.(5137-5139)Cga>Tga	p.R1713*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1713	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.R1713*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AATCCCGCTCGAGAAGAGCTG	0.567000													22	57					0	0	0.000295444	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766703	27766703	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:27766703G>A	ENST00000451261.2	+	5	2090	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AAGTGGGAACGAGATGAAGAC	0.507000													8	14					0	0	0.000157383	0	0
IGHG4	3503	broad.mit.edu	37	14	106091486	106091486	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:106091486G>A	ENST00000390543.2	-	0	407																											TGACCTCAGGGGTCCGGGAGA	0.582000													17	66					0	0	0.000422831	0	0
ATRN	8455	broad.mit.edu	37	20	3553591	3553591	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:3553591C>T	ENST00000262919.5	+	12	2153	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	ATRN_ENST00000446916.2_Silent_p.S695S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	695					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGTTTTTCCAAAAGAAGTA	0.353000													10	13					0	0	0.000442599	0	0
THSD7A	221981	broad.mit.edu	37	7	11633060	11633060	+	Silent	SNP	G	G	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:11633060G>C	ENST00000423059.3	-	3	1343	c.1092C>G	c.(1090-1092)tcC>tcG	p.S364S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	364	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGACCACTCGGAAACCTGGC	0.498000										HNSCC(18;0.044)			28	39					0	0	0.00106085	0	0
SLX4	84464	broad.mit.edu	37	16	3640721	3640721	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:3640721G>A	ENST00000294008.3	-	12	3558	c.2918C>T	c.(2917-2919)tCt>tTt	p.S973F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	973	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTGCGGAAGAGAGCCTTCTTT	0.587000								Direct reversal of damage					18	61					0	0	0.000229342	0	0
HOXC6	3223	broad.mit.edu	37	12	54422676	54422676	+	Missense_Mutation	SNP	C	C	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:54422676C>G	ENST00000394331.3	+	2	1835	c.125C>G	c.(124-126)cCc>cGc	p.P42R	HOXC6_ENST00000243108.4_Missense_Mutation_p.P124R|HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	124					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGATTTACCCCTGGATGCAG	0.468000													4	96					0	0	0.00024832	0	0
EID1	23741	broad.mit.edu	37	15	49170837	49170837	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:49170837C>A	ENST00000530028.2	+	1	755	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	EID1_ENST00000558295.1_Intron|SHC4_ENST00000332408.4_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.P133Q	NM_014335.2	NP_055150.1	Q9Y6B2	EID1_HUMAN	EP300 interacting inhibitor of differentiation 1	155					cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		GAGAAGACCCCGTTTGATCAG	0.448000													4	48					0.00116845	0.00845381	0.00116845	1	0
GPBP1	65056	broad.mit.edu	37	5	56527096	56527096	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:56527096C>T	ENST00000424459.3	+	5	1633	c.359C>T	c.(358-360)aCc>aTc	p.T120I	GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Missense_Mutation_p.T127I|GPBP1_ENST00000511209.1_Missense_Mutation_p.T127I|GPBP1_ENST00000538707.1_Missense_Mutation_p.T127I|GPBP1_ENST00000506184.2_Missense_Mutation_p.T120I|GPBP1_ENST00000454432.2_Missense_Mutation_p.T120I	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GACAATGAAACCGGGAGGAAA	0.398000													8	10					0	0	0.000442599	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86568250	86568250	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:86568250G>A	ENST00000450689.2	-	7	1059	c.874C>T	c.(874-876)Cct>Tct	p.P292S	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P292S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P125S|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P52S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	292						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGCTTGCAAGGAAAACATTCT	0.463000													12	36					0	0	0.000978159	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:156634314C>T	ENST00000296518.7	+	7	1360	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S384L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S126L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGGGGTCACCCTGTGTG	0.428000													5	51					0	0	8.12818e-05	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450758	21450758	+	Missense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:21450758A>T	ENST00000425654.2	+	3	737	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNKSR2_ENST00000279451.4_Missense_Mutation_p.K86I|CNKSR2_ENST00000379510.3_Missense_Mutation_p.K86I|CNKSR2_ENST00000543067.1_Missense_Mutation_p.K86I	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	86	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAATCTAAAAACCCTTTCT	0.328000													27	112					0	0	0.001512	0	0
HNF4G	3174	broad.mit.edu	37	8	76471069	76471069	+	Missense_Mutation	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:76471069A>G	ENST00000396423.2	+	8	1014	c.890A>G	c.(889-891)aAg>aGg	p.K297R	HNF4G_ENST00000354370.1_Missense_Mutation_p.K260R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	260					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAAAAATTAAGAACATGAGG	0.438000													10	43					0	0	0.000673444	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886211	24886211	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:24886211C>T	ENST00000382554.3	+	9	5574	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1752	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCCTCCTCCACTGATGCCA	0.597000													4	28					0	0	0.00116845	0	0
CCDC132	55610	broad.mit.edu	37	7	92932844	92932844	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:92932844C>T	ENST00000544910.1	+	18	1564	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	CCDC132_ENST00000305866.5_Silent_p.F478F|CCDC132_ENST00000541136.1_Silent_p.F289F|CCDC132_ENST00000317751.6_Silent_p.F209F|CCDC132_ENST00000535481.1_Silent_p.F198F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	478										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTCAAATTTCAGCATCTTGC	0.308000													35	141					0	0	0.00148497	0	0
MYO15A	51168	broad.mit.edu	37	17	18044418	18044418	+	Missense_Mutation	SNP	G	G	A	rs121908972		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:18044418G>A	ENST00000205890.5	+	22	5830	c.5492G>A	c.(5491-5493)gGa>gAa	p.G1831E	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1831	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)					CGCAAGGAGGGATTTCCAGTG	0.557000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	16					0	0	0.000308642	0	0
TTC16	158248	broad.mit.edu	37	9	130493449	130493449	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:130493449G>A	ENST00000373289.3	+	14	2467	c.2387G>A	c.(2386-2388)aGg>aAg	p.R796K	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	796							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCCGAAGCAGGGGACTGCTC	0.607000													8	4					0	0	0.000274275	0	0
DCC	1630	broad.mit.edu	37	18	50912435	50912435	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr18:50912435C>T	ENST00000442544.2	+	16	2998	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	DCC_ENST00000412726.1_Silent_p.I642I|DCC_ENST00000581580.1_Silent_p.I449I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	794	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTATGTAATCTCCCTAAAAG	0.363000													7	64					0	0	0.000274275	0	0
ATR	545	broad.mit.edu	37	3	142218479	142218479	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:142218479A>T	ENST00000350721.4	-	31	5491	c.5370T>A	c.(5368-5370)taT>taA	p.Y1790*	ATR_ENST00000383101.3_Nonsense_Mutation_p.Y1726*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1790	FAT.				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						CTGCTGCCAAATAGTTTTCCA	0.458000								Other conserved DNA damage response genes					45	92					0	0	0.000781405	0	0
IGSF10	285313	broad.mit.edu	37	3	151166575	151166575	+	Silent	SNP	C	C	T	rs146034413	byFrequency	TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:151166575C>T	ENST00000282466.3	-	4	1193	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		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	398					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P398P(2)		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)			AATAGAGCTGCGGTGTTTCAC	0.428000													9	51					0	0	0.000442599	0	0
MTMR12	54545	broad.mit.edu	37	5	32263339	32263339	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:32263339G>A	ENST00000382142.3	-	7	763	c.593C>T	c.(592-594)cCc>cTc	p.P198L	MTMR12_ENST00000280285.5_Missense_Mutation_p.P198L|MTMR12_ENST00000264934.5_Missense_Mutation_p.P198L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	198						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGTTCTTGGGATCAGTGAC	0.403000													23	40					0	0	0.000375601	0	0
CRELD1	78987	broad.mit.edu	37	3	9982600	9982600	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:9982600G>A	ENST00000383811.3	+	5	1126	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CRELD1_ENST00000326434.5_Missense_Mutation_p.G176E|CRELD1_ENST00000452070.1_Missense_Mutation_p.G176E|CRELD1_ENST00000397170.3_Missense_Mutation_p.G176E	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	176	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGGACACGAGGGGGCAGCGGG	0.637000													28	35					0	0	0.00106085	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434077	69434077	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:69434077G>A	ENST00000317746.2	-	1	168	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	42					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCTCTTCCAGGATTGTCTTCA	0.433000													125	78					0	0	0.000781405	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143907	142143907	+	RNA	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:142143907T>C	ENST00000390373.2	-	0	88																											CTTCAGGACGTGGAATTTTGG	0.527000													4	65					0	0	0.00024832	0	0
PTCD1	26024	broad.mit.edu	37	7	99022520	99022520	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:99022520G>A	ENST00000292478.4	-	6	1885	c.1635C>T	c.(1633-1635)gtC>gtT	p.V545V	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V594V|PTCD1_ENST00000555673.1_Silent_p.V594V	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTTGCCAGGACCGGCAACA	0.592000													12	32					0	0	0.00136819	0	0
KIF20A	10112	broad.mit.edu	37	5	137522981	137522981	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:137522981G>A	ENST00000394894.3	+	19	2778	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R833Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	851	Globular (Potential).				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCATTCCTTCGAAATTTACTT	0.507000													4	26					0	0	0.000602214	0	0
OR6C6	283365	broad.mit.edu	37	12	55688288	55688288	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:55688288C>T	ENST00000358433.2	-	1	728	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368000													18	42					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179635322	179635322	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179635322G>A	ENST00000589042.1	-	35	8421	c.8197C>T	c.(8197-8199)Cct>Tct	p.P2733S	TTN_ENST00000359218.5_Missense_Mutation_p.P2687S|TTN_ENST00000342175.6_Missense_Mutation_p.P2687S|TTN_ENST00000342992.6_Missense_Mutation_p.P2733S|TTN_ENST00000460472.2_Missense_Mutation_p.P2687S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P2733S|TTN_ENST00000360870.5_Missense_Mutation_p.P2733S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2471							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)			TTGACATTAGGGTGTGTAAGC	0.388000													26	63					0	0	0.000586117	0	0
SVOPL	136306	broad.mit.edu	37	7	138312999	138312999	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:138312999C>T	ENST00000421622.1	-	7	821	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	SVOPL_ENST00000288513.5_Missense_Mutation_p.G173R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G173R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G325R			Q8N434	SVOPL_HUMAN	SVOP-like	325						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTGAGTCCCCCCCAGTCACC	0.557000													21	55					0	0	0.000295444	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133657281	133657281	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:133657281C>T	ENST00000310926.4	-	12	1955	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R485H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	561					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCCAGCAAGCGCATCAACAA	0.547000													6	98					0	0	0.000157383	0	0
MB21D2	151963	broad.mit.edu	37	3	192516600	192516600	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:192516600C>T	ENST00000392452.2	-	2	1371	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	351										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCATAGTCTTCTTGAGCCAAG	0.522000													29	30					0	0	0.00106085	0	0
CLIP2	7461	broad.mit.edu	37	7	73770794	73770794	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:73770794C>T	ENST00000223398.6	+	5	1185	c.858C>T	c.(856-858)atC>atT	p.I286I	CLIP2_ENST00000395060.1_Silent_p.I286I|CLIP2_ENST00000361545.5_Silent_p.I286I	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	286						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACAAAGTGATCCGTATCGGCT	0.587000													26	112					0	0	0.00111076	0	0
CRELD1	78987	broad.mit.edu	37	3	9982599	9982599	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:9982599G>A	ENST00000383811.3	+	5	1125	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	CRELD1_ENST00000326434.5_Missense_Mutation_p.G176R|CRELD1_ENST00000452070.1_Missense_Mutation_p.G176R|CRELD1_ENST00000397170.3_Missense_Mutation_p.G176R	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	176	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGGGACACGAGGGGGCAGCGG	0.632000													29	34					0	0	0.00127121	0	0
NPY2R	4887	broad.mit.edu	37	4	156135252	156135252	+	Missense_Mutation	SNP	T	T	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:156135252T>A	ENST00000329476.3	+	2	650	c.161T>A	c.(160-162)aTa>aAa	p.I54K	NPY2R_ENST00000506608.1_Missense_Mutation_p.I54K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	54					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTTGTTCTCATATTGGCCTAC	0.468000													26	36					0	0	0.001512	0	0
LPPR1	54886	broad.mit.edu	37	9	104079650	104079650	+	Missense_Mutation	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:104079650A>G	ENST00000374874.3	+	7	1256	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	LPPR1_ENST00000395056.2_Missense_Mutation_p.M273V	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		273						integral to membrane	catalytic activity										CCTGCAGGGAATGTGTGTGGT	0.512000													54	135					0	0	0.000781405	0	0
LAMA2	3908	broad.mit.edu	37	6	129609140	129609140	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:129609140C>T	ENST00000421865.2	+	19	2735	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	896	Laminin EGF-like 8.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAACAGGCCGGTACTGTGA	0.488000													19	87					0	0	0.000375601	0	0
LRMP	4033	broad.mit.edu	37	12	25259983	25259983	+	Splice_Site	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:25259983G>A	ENST00000354454.3	+	20	2084	c.1256_splice	c.e20+1	p.V419_splice	LRMP_ENST00000548766.1_Splice_Site_p.V419_splice|LRMP_ENST00000547044.1_Splice_Site_p.V419_splice	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	475					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTCTCTTCAGTGTAAGTTAT	0.378000													5	11					0	0	0.00116845	0	0
RTL1	388015	broad.mit.edu	37	14	101350838	101350838	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr14:101350838G>A	ENST00000534062.1	-	1	346	c.288C>T	c.(286-288)ctC>ctT	p.L96L	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	96										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCAGGTCTTGGAGTAGGTCAT	0.532000													31	35					0	0	0.000814825	0	0
SLC9C1	285335	broad.mit.edu	37	3	111997653	111997653	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:111997653G>A	ENST00000305815.5	-	4	493	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R81C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	81					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GTAAATATACGAAAAAATAAG	0.313000													49	100					0	0	0.000781405	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132319	52132319	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:52132319C>T	ENST00000222107.4	-	4	849	c.711G>A	c.(709-711)caG>caA	p.Q237Q	SIGLEC5_ENST00000599649.1_Silent_p.Q237Q|SIGLEC5_ENST00000429354.3_Silent_p.Q237Q|SIGLEC5_ENST00000534261.2_Silent_p.Q237Q|SIGLEC5_ENST00000570106.2_Silent_p.Q237Q			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	237	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTGATGGTCTGTGGAGCAT	0.522000													29	104					0	0	0.000491102	0	0
OR5H14	403273	broad.mit.edu	37	3	97868962	97868962	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:97868962C>T	ENST00000437310.1	+	1	793	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGAGCTCATCTCTTATCTGT	0.413000													7	35					0	0	0.000157383	0	0
GRIP1	23426	broad.mit.edu	37	12	66935661	66935661	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:66935661G>A	ENST00000359742.4	-	3	446	c.206C>T	c.(205-207)tCg>tTg	p.S69L	GRIP1_ENST00000398016.3_Missense_Mutation_p.S69L|GRIP1_ENST00000286445.7_Missense_Mutation_p.S69L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	69	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATTCCTCCCGATACCGTCAG	0.463000													36	205					0	0	0.00128727	0	0
AZI2	64343	broad.mit.edu	37	3	28365566	28365566	+	Silent	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:28365566A>G	ENST00000479665.1	-	8	1677	c.1146T>C	c.(1144-1146)gaT>gaC	p.D382D	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	382						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GATTATGTTGATCCAAGTAAT	0.388000													33	86					0	0	0.000692331	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797857	100797857	+	Silent	SNP	C	C	T	rs112540425		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:100797857C>T	ENST00000323346.5	+	9	1408	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC17A8_ENST00000392989.3_Silent_p.I315I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	365					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTATGACAATCGTTGTACCTA	0.433000													17	47					0	0	0.000958276	0	0
POLG2	11232	broad.mit.edu	37	17	62487002	62487002	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:62487002G>A	ENST00000539111.2	-	4	947	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.P294S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTTCCCCAGGGAAAATTGTAG	0.398000													5	53					0	0	0.00116845	0	0
ELN	2006	broad.mit.edu	37	7	73449699	73449699	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:73449699C>T	ENST00000252034.7	+	2	487	c.88C>T	c.(88-90)Cct>Tct	p.P30S	ELN_ENST00000320492.7_Missense_Mutation_p.P30S|ELN_ENST00000380562.4_Missense_Mutation_p.P30S|ELN_ENST00000445912.1_Missense_Mutation_p.P30S|ELN_ENST00000458204.1_Missense_Mutation_p.P30S|ELN_ENST00000357036.5_Missense_Mutation_p.P30S|ELN_ENST00000380575.4_Missense_Mutation_p.P30S|ELN_ENST00000380576.5_Missense_Mutation_p.P30S|ELN_ENST00000429192.1_Missense_Mutation_p.P30S|ELN_ENST00000380584.4_Missense_Mutation_p.P30S|ELN_ENST00000320399.6_Missense_Mutation_p.P30S|ELN_ENST00000358929.4_Missense_Mutation_p.P30S|ELN_ENST00000414324.1_Missense_Mutation_p.P30S|ELN_ENST00000380553.4_Missense_Mutation_p.P30S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	30					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCAGGGGTCCCTGGGGCCAT	0.493000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						22	45					0	0	0.000586117	0	0
PTCD1	26024	broad.mit.edu	37	7	99022519	99022519	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:99022519G>A	ENST00000292478.4	-	6	1886	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L595L|PTCD1_ENST00000555673.1_Silent_p.L595L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTTTGCCAGGACCGGCAAC	0.592000													12	32					0	0	0.00136819	0	0
DNAH3	55567	broad.mit.edu	37	16	21049241	21049241	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr16:21049241G>A	ENST00000261383.3	-	34	4791	c.4792C>T	c.(4792-4794)Cac>Tac	p.H1598Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.H1598Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1598	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGTCATAGTGATGCTGAGAG	0.542000													5	21					0	0	0.00116845	0	0
KNG1	3827	broad.mit.edu	37	3	186460064	186460064	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:186460064C>T	ENST00000265023.4	+	10	2091	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	627					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGAAATTAATCCAACCACACA	0.378000													34	73					0	0	0.00128727	0	0
STAT6	6778	broad.mit.edu	37	12	57496186	57496186	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:57496186G>A	ENST00000300134.3	-	13	1724	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	STAT6_ENST00000454075.3_Missense_Mutation_p.R467W|STAT6_ENST00000538913.2_Missense_Mutation_p.R357W|STAT6_ENST00000556155.1_Missense_Mutation_p.R467W|STAT6_ENST00000537215.2_Missense_Mutation_p.R357W|STAT6_ENST00000543873.2_Missense_Mutation_p.R467W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	467					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCAGCCCCCGGTTGGTCCCC	0.592000													23	64					0	0	0.000586117	0	0
ABHD12	26090	broad.mit.edu	37	20	25303973	25303973	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:25303973G>A	ENST00000339157.5	-	3	682	c.410C>T	c.(409-411)aCc>aTc	p.T137I	ABHD12_ENST00000376542.3_Missense_Mutation_p.T137I	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	137						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GACTCCAATGGTCACGTCTTC	0.498000													37	60					0	0	0.00148497	0	0
BMP15	9210	broad.mit.edu	37	X	50659023	50659023	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:50659023G>A	ENST00000252677.3	+	2	595	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	199					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAATAACAAGGGACACAGGAT	0.453000													13	62					0	0	0.000219431	0	0
LRP6	4040	broad.mit.edu	37	12	12332894	12332894	+	Missense_Mutation	SNP	C	C	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr12:12332894C>A	ENST00000261349.4	-	7	1471	c.1395G>T	c.(1393-1395)tgG>tgT	p.W465C	LRP6_ENST00000543091.1_Missense_Mutation_p.W465C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	465	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAATTTCTCCCCAGTCAGTCC	0.383000													12	291					0.00136819	0.00986439	0.00136819	1	0
ACBD5	91452	broad.mit.edu	37	10	27499797	27499797	+	Missense_Mutation	SNP	G	G	A	rs149955149		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:27499797G>A	ENST00000396271.3	-	9	1276	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	ACBD5_ENST00000375905.4_Missense_Mutation_p.R349W|ACBD5_ENST00000375888.1_Missense_Mutation_p.R393W|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.R275W|ACBD5_ENST00000375897.3_Missense_Mutation_p.R207W	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	393					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCTTCTCCCGGTGTGGTGCT	0.453000													34	51					0	0	0.00058488	0	0
PAK3	5063	broad.mit.edu	37	X	110439801	110439801	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:110439801C>T	ENST00000519681.1	+	17	1845	c.1403C>T	c.(1402-1404)tCt>tTt	p.S468F	PAK3_ENST00000360648.4_Missense_Mutation_p.S483F|PAK3_ENST00000518291.1_Missense_Mutation_p.S483F|PAK3_ENST00000446737.1_Missense_Mutation_p.S447F|PAK3_ENST00000425146.1_Missense_Mutation_p.S447F|PAK3_ENST00000262836.4_Missense_Mutation_p.S462F|PAK3_ENST00000372007.4_Missense_Mutation_p.S447F|PAK3_ENST00000372010.1_Missense_Mutation_p.S462F|PAK3_ENST00000417227.1_Missense_Mutation_p.S468F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	462	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATATCTGGTCTCTTGGAATT	0.448000										TSP Lung(19;0.15)			9	83					0	0	0.000978159	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49344473	49344473	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:49344473G>A	ENST00000263265.6	-	17	2393	c.1838C>T	c.(1837-1839)tCc>tTc	p.S613F	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	613						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AAGCCGGGGGGAGGTCGGGCG	0.711000													7	12					0	0	0.000442599	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787239	121787239	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:121787239G>A	ENST00000261367.7	+	12	4266	c.2838G>A	c.(2836-2838)agG>agA	p.R946R	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.R533R|SNCAIP_ENST00000379536.2_Silent_p.R839R|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.R501R|SNCAIP_ENST00000379533.2_Silent_p.R946R|SNCAIP_ENST00000261368.8_Silent_p.R899R|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Silent_p.R457R|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	899					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTTGGGAGGAAGACAGATG	0.438000													12	82					0	0	0.000308642	0	0
NPY5R	4889	broad.mit.edu	37	4	164271557	164271557	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:164271557G>A	ENST00000515560.1	+	4	1654	c.132G>A	c.(130-132)ctG>ctA	p.L44L	NPY5R_ENST00000506953.1_Silent_p.L44L|NPY5R_ENST00000338566.3_Silent_p.L44L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	44					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)				AGTATTTTCTGATTGGGCTCT	0.388000													31	46					0	0	0.00178596	0	0
NFIL3	4783	broad.mit.edu	37	9	94171671	94171671	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:94171671C>T	ENST00000297689.3	-	2	1740	c.1346G>A	c.(1345-1347)aGa>aAa	p.R449K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	449					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGCTATAAGTCTCTTGAGTGA	0.418000													40	27					0	0	0.000437636	0	0
CLCN1	1180	broad.mit.edu	37	7	143029880	143029880	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:143029880G>A	ENST00000343257.2	+	12	1402	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	439					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACACGCGGGTGATCCTGAGAG	0.527000													21	72					0	0	0.000295444	0	0
PLG	5340	broad.mit.edu	37	6	161127528	161127528	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:161127528G>A	ENST00000308192.9	+	2	202	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PLG_ENST00000366924.2_Missense_Mutation_p.E47K|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	47	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.E47K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGAAGTATAGAAGAATGTGC	0.483000													31	91					0	0	0.001512	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905571	144905571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:144905571G>A	ENST00000370490.1	+	1	5883	c.1628G>A	c.(1627-1629)tGg>tAg	p.W543*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.W543*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	543	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAAGACTGGACAGAACAT	0.517000													12	58					0	0	0.000151284	0	0
LAMA2	3908	broad.mit.edu	37	6	129609139	129609139	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:129609139C>T	ENST00000421865.2	+	19	2734	c.2685C>T	c.(2683-2685)ggC>ggT	p.G895G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	895	Laminin EGF-like 8.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTACAACAGGCCGGTACTGTG	0.493000													20	88					0	0	0.00047179	0	0
FIP1L1	81608	broad.mit.edu	37	4	54256001	54256001	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:54256001C>T	ENST00000507166.1	+	6	358	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	FIP1L1_ENST00000507922.1_Missense_Mutation_p.L105F|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L105F|FIP1L1_ENST00000337488.6_Missense_Mutation_p.L120F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L105F|FIP1L1_ENST00000510668.1_3'UTR			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	120	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCTGTAAATCTTAACATCAA	0.308000			T	PDGFRA	idiopathic hypereosinophilic syndrome								5	87					0	0	0.00116845	0	0
F2R	2149	broad.mit.edu	37	5	76028770	76028770	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:76028770G>A	ENST00000319211.4	+	2	985	c.720G>A	c.(718-720)aaG>aaA	p.K240K		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	240					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TGCTCCTCAAGGAGCAAACCA	0.562000													18	36					0	0	0.00121646	0	0
KRT12	3859	broad.mit.edu	37	17	39022959	39022959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:39022959C>T	ENST00000251643.4	-	1	503	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	160	Coil 1A.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTGTTTCATACCATTCTCGAA	0.388000													16	95					0	0	0.00121646	0	0
OLFM1	10439	broad.mit.edu	37	9	137990199	137990199	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:137990199C>T	ENST00000252854.4	+	4	657	c.470C>T	c.(469-471)gCc>gTc	p.A157V	OLFM1_ENST00000371793.3_Missense_Mutation_p.A175V|OLFM1_ENST00000371796.3_Missense_Mutation_p.A148V	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	175					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AAGGCCGATGCCAAATTGGTA	0.448000													43	30					0	0	0.000680045	0	0
PPRC1	23082	broad.mit.edu	37	10	103899089	103899089	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:103899089C>T	ENST00000278070.2	+	5	863	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PPRC1_ENST00000413464.2_Missense_Mutation_p.P275L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGACTTCCCCATGCATTTG	0.572000													14	34					0	0	0.000566183	0	0
MYH2	4620	broad.mit.edu	37	17	10436610	10436610	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:10436610C>T	ENST00000245503.5	-	21	2817	c.2433G>A	c.(2431-2433)gtG>gtA	p.V811V	MYH2_ENST00000397183.2_Silent_p.V811V|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	811	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTCTCTCCACCATCCTCT	0.433000													6	56					0	0	0.00116845	0	0
ASH1L	55870	broad.mit.edu	37	1	155450565	155450565	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:155450565C>T	ENST00000368346.3	-	3	2735	c.2096G>A	c.(2095-2097)aGc>aAc	p.S699N	ASH1L_ENST00000392403.3_Missense_Mutation_p.S699N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	699					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			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)			AGTACTTAGGCTTTCAGCAAC	0.393000													30	33					0	0	0.001512	0	0
DNM2	1785	broad.mit.edu	37	19	10893739	10893739	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr19:10893739C>T	ENST00000314646.5	+	6	956	c.792C>T	c.(790-792)gcC>gcT	p.A264A	DNM2_ENST00000355667.6_Silent_p.A264A|DNM2_ENST00000585892.1_Silent_p.A264A|DNM2_ENST00000359692.6_Silent_p.A264A|DNM2_ENST00000408974.4_Silent_p.A264A|DNM2_ENST00000389253.4_Silent_p.A264A			P50570	DYN2_HUMAN	dynamin 2	264					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCACCCGGCCTACCGGCACA	0.582000			"""F, N, Splice, Mis, O"""		ETP ALL								17	27					0	0	0.00074312	0	0
BTAF1	9044	broad.mit.edu	37	10	93741539	93741539	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr10:93741539C>T	ENST00000265990.6	+	16	2203	c.1895C>T	c.(1894-1896)gCt>gTt	p.A632V	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	632					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGTAAAAGCTAGAGCCAAG	0.378000													20	20					0	0	0.00121646	0	0
CDCA2	157313	broad.mit.edu	37	8	25364680	25364680	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:25364680C>T	ENST00000330560.3	+	15	2975	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	CDCA2_ENST00000380665.3_Missense_Mutation_p.S818F|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	833					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAAGACGTTCCATGTGTTAT	0.393000													13	29					0	0	0.000151284	0	0
OSR1	130497	broad.mit.edu	37	2	19552099	19552099	+	Silent	SNP	G	G	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:19552099G>C	ENST00000536433.1	-	2	3848	c.738C>G	c.(736-738)ctC>ctG	p.L246L	OSR1_ENST00000272223.2_Silent_p.L246L			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	246					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGACAGCGAGAGTCCTGG	0.498000													4	64					0	0	0.00024832	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962661	41962661	+	RNA	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:41962661G>A	ENST00000454645.1	-	0	843					NR_003670.1																						TTTCCCCTCCGTTGTTTGTCC	0.368000													4	14					0	0	8.12818e-05	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585545	4585545	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr9:4585545C>T	ENST00000262352.3	+	12	1798	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	521					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TTCACCCAGACCTCACAGTTC	0.463000													33	33					0	0	0.000814825	0	0
CFAP221	200373	broad.mit.edu	37	2	120362355	120362355	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:120362355C>T	ENST00000602047.1	+	10	1153	c.41C>T	c.(40-42)cCt>cTt	p.P14L	PCDP1_ENST00000413369.3_Missense_Mutation_p.P300L|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		300						cilium	calmodulin binding					Colorectal(110;0.196)					AAGCCGAAGCCTCAGAAGGTG	0.458000													24	59					0	0	0.000878237	0	0
MAP4	4134	broad.mit.edu	37	3	47957837	47957837	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:47957837G>A	ENST00000426837.2	-	8	1618	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S	MAP4_ENST00000360240.6_Missense_Mutation_p.P494S|MAP4_ENST00000395734.3_Missense_Mutation_p.P494S|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	494	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ACTGTGGACGGAGCCACATCC	0.507000													56	113					0	0	0.000781405	0	0
FAM47C	442444	broad.mit.edu	37	X	37027043	37027043	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:37027043C>T	ENST00000358047.3	+	1	612	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	187										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGGGAATTCTCCCCTCGGCCT	0.642000													5	12					0	0	8.12818e-05	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058852	46058852	+	Missense_Mutation	SNP	T	T	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr17:46058852T>C	ENST00000536708.2	+	14	1689	c.1580T>C	c.(1579-1581)aTg>aCg	p.M527T	CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.M502T|RP11-6N17.10_ENST00000578239.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	502					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GTGAACCTGATGGGAACCTCT	0.547000													4	65					0	0	0.000602214	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374849	37374849	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:37374849C>T	ENST00000233057.4	-	3	423	c.101G>A	c.(100-102)gGa>gAa	p.G34E	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G34E|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G34E	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	34	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATGTGGAGGTCCTGAATTAGG	0.408000													23	84					0	0	0.000375601	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143906	142143906	+	RNA	SNP	G	G	C	rs146728507	by1000genomes	TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:142143906G>C	ENST00000390373.2	-	0	89																											TCTTCAGGACGTGGAATTTTG	0.527000													4	64					0	0	0.00024832	0	0
DST	667	broad.mit.edu	37	6	56469339	56469339	+	Silent	SNP	A	A	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:56469339A>G	ENST00000370754.5	-	39	9987	c.9988T>C	c.(9988-9990)Ttg>Ctg	p.L3330L	DST_ENST00000312431.6_Silent_p.L3152L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Silent_p.L3152L|DST_ENST00000361203.3_Silent_p.L3152L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L2826L			Q03001	DYST_HUMAN	dystonin	3152					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTCTTTCAACCTGCTTTTT	0.373000													42	60					0	0	0.00148497	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003354	23003354	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:23003354G>A	ENST00000312584.3	-	5	657	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTCCCAGTGGAACTGGCAGC	0.522000													13	65					0	0	0.000219431	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545152	196545152	+	Missense_Mutation	SNP	A	A	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:196545152A>T	ENST00000409086.3	+	2	661	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	SLC39A10_ENST00000359634.5_Missense_Mutation_p.Q129L|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	129	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Q129R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATAACCACCAGCATTCCCAT	0.368000													19	48					0	0	0.00121646	0	0
MMAA	166785	broad.mit.edu	37	4	146563585	146563585	+	Missense_Mutation	SNP	A	A	C			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:146563585A>C	ENST00000281317.5	+	3	1720	c.510A>C	c.(508-510)agA>agC	p.R170S	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	170						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACTGAGAGAGGGCACAAAT	0.423000													18	138					0	0	0.000958276	0	0
PTPRU	10076	broad.mit.edu	37	1	29581894	29581894	+	Missense_Mutation	SNP	C	C	T	rs148144154		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:29581894C>T	ENST00000356870.3	+	2	291	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PTPRU_ENST00000373779.3_Missense_Mutation_p.R61W|PTPRU_ENST00000345512.3_Missense_Mutation_p.R61W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R61W|PTPRU_ENST00000323874.8_Missense_Mutation_p.R61W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R61W	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	61	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTGGCACCCGGGCACCTGC	0.607000													13	73					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179635323	179635323	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179635323G>A	ENST00000589042.1	-	35	8420	c.8196C>T	c.(8194-8196)caC>caT	p.H2732H	TTN_ENST00000359218.5_Silent_p.H2686H|TTN_ENST00000342175.6_Silent_p.H2686H|TTN_ENST00000342992.6_Silent_p.H2732H|TTN_ENST00000460472.2_Silent_p.H2686H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.H2732H|TTN_ENST00000360870.5_Silent_p.H2732H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2470							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)			TGACATTAGGGTGTGTAAGCT	0.393000													28	63					0	0	0.000878237	0	0
F2R	2149	broad.mit.edu	37	5	76028771	76028771	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr5:76028771G>A	ENST00000319211.4	+	2	986	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	241					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCTCCTCAAGGAGCAAACCAT	0.557000													16	36					0	0	0.00074312	0	0
TNXB	7148	broad.mit.edu	37	6	32026058	32026058	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:32026058G>A	ENST00000375244.3	-	22	7803	c.7602C>T	c.(7600-7602)tcC>tcT	p.S2534S	TNXB_ENST00000375247.2_Silent_p.S2534S			P22105	TENX_HUMAN	tenascin XB	2594	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGAGTCAGGGGAGGATCCTG	0.677000													43	203					0	0	0.000680045	0	0
TTN	7273	broad.mit.edu	37	2	179574440	179574440	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:179574440G>A	ENST00000589042.1	-	99	28830	c.28606C>T	c.(28606-28608)Cca>Tca	p.P9536S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8292S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P9219S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9219							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)			TTAGAAGTTGGTTGTATCTCT	0.413000													8	97					0	0	0.00136819	0	0
GPR22	2845	broad.mit.edu	37	7	107114811	107114811	+	Silent	SNP	C	C	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:107114811C>A	ENST00000304402.4	+	3	1649	c.306C>A	c.(304-306)atC>atA	p.I102I	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	102						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CTATAGTTATCCTTCTGCTTT	0.358000													35	102					2.68265e-12	1.97558e-11	0.000491102	1	0
SLC26A8	116369	broad.mit.edu	37	6	35927241	35927241	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr6:35927241G>A	ENST00000490799.1	-	16	2212	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SLC26A8_ENST00000355574.2_Missense_Mutation_p.P620L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P515L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	620	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTAACCCTGGGCAGCGGCTC	0.358000													33	59					0	0	0.000953801	0	0
EDNRB	1910	broad.mit.edu	37	13	78477731	78477731	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:78477731C>T	ENST00000377211.4	-	3	917	c.765G>A	c.(763-765)gaG>gaA	p.E255E	EDNRB_ENST00000446573.1_Silent_p.E165E|EDNRB_ENST00000334286.5_Silent_p.E165E	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	165					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGGCCAGTCCTCTGCCAGCA	0.463000													5	60					0	0	0.000602214	0	0
ASPM	259266	broad.mit.edu	37	1	197071419	197071419	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:197071419G>A	ENST00000367409.4	-	18	7218	c.6962C>T	c.(6961-6963)tCa>tTa	p.S2321L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2321	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTTCTGTATGATGACTGGAT	0.378000													50	43					0	0	0.000781405	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282687	69282687	+	Missense_Mutation	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chrX:69282687G>A	ENST00000338352.2	+	1	347	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	105										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGAGTCCGAGGAGAGGGAGCG	0.597000													4	5					0	0	0.00024832	0	0
FGA	2243	broad.mit.edu	37	4	155505773	155505773	+	Missense_Mutation	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:155505773C>T	ENST00000302053.3	-	6	2182	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	702	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCCCCTCGTCATTCAGG	0.488000													33	60					0	0	0.000814825	0	0
LRRC4	64101	broad.mit.edu	37	7	127669308	127669308	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr7:127669308C>T	ENST00000249363.3	-	2	1643	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	462	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCGAGATCTCCGTGGTCTCCA	0.547000													26	86					0	0	0.000878237	0	0
ATP12A	479	broad.mit.edu	37	13	25265130	25265130	+	Silent	SNP	C	C	T			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr13:25265130C>T	ENST00000218548.6	+	8	1161	c.828C>T	c.(826-828)acC>acT	p.T276T	ATP12A_ENST00000381946.3_Silent_p.T270T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	270					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCACTGTCACCGGCATGGTTA	0.562000													24	95					0	0	0.000878237	0	0
BFSP1	631	broad.mit.edu	37	20	17475568	17475568	+	Silent	SNP	G	G	A			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr20:17475568G>A	ENST00000377873.3	-	8	1188	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	BFSP1_ENST00000536626.1_Silent_p.N244N|BFSP1_ENST00000544874.1_Silent_p.N244N|BFSP1_ENST00000377868.2_Silent_p.N258N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	383	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCAGAGCTCCGTTGGTTTTGT	0.408000													54	90					0	0	0.000781405	0	0
FUBP1	8880	broad.mit.edu	37	1	78426120	78426120	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr1:78426120delG	ENST00000370767.1	-	15	1492	c.1405delC	c.(1405-1407)atfs	p.H469fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.H469fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.H490fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	469	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAGGTCCATGGGGGCCTGGG	0.537			"""F, N"""		oligodendroglioma								14	7	---	---	---	---					
TFPI	7035	broad.mit.edu	37	2	188348945	188348946	+	Splice_Site	INS	-	-	G			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr2:188348945_188348946insG	ENST00000233156.3	-	6	830		c.e6-2		TFPI_ENST00000339091.4_Splice_Site|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Splice_Site|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Splice_Site	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AACCATTCGCTGGAAAAAAATA	0.391													11	56	---	---	---	---					
TBC1D5	9779	broad.mit.edu	37	3	17279855	17279855	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr3:17279855delT	ENST00000253692.7	-	17	3052	c.1388delA	c.(1387-1389)atfs	p.N463fs	TBC1D5_ENST00000446818.2_Frame_Shift_Del_p.N463fs|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Frame_Shift_Del_p.N463fs|TBC1D5_ENST00000429924.2_Frame_Shift_Del_p.N415fs	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	463						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCTTCCAAAATTAATCAGGCT	0.433													20	27	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													3	4	---	---	---	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)agtfs	p.S234fs	ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													8	102	---	---	---	---					
ZNF774	342132	broad.mit.edu	37	15	90904315	90904316	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr15:90904315_90904316delTT	ENST00000354377.3	+	4	1438_1439	c.1252_1253delTT	c.(1252-1254)tfs	p.F418fs	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGCTCCCACTTTATTACCCAT	0.520													13	34	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-HR-A2OG-01A-21D-A197-08	TCGA-HR-A2OG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82ce79a8-7fec-493f-9ea5-5609d1d159f9	64b91cae-70a9-43b6-aec2-db6fe2d66a93	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													3	3	---	---	---	---					
