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
ANKRD17	26057	broad.mit.edu	37	4	73987424	73987424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:73987424G>A	ENST00000358602.4	-	19	3661	c.3545C>T	c.(3544-3546)tCt>tTt	p.S1182F	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S1069F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S931F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1182					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGTAATCAGAAACATTCCT	0.373000													16	41					0	0	0.004990	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730670	22730670	+	RNA	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:22730670C>T	ENST00000390296.2	+	0	193																											ACAGGATATACTGGTACCAGC	0.557000													5	138					0	0	0.013537	0	0
KLK6	5653	broad.mit.edu	37	19	51470571	51470571	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:51470571C>T	ENST00000376851.3	-	3	490	c.51G>A	c.(49-51)gaG>gaA	p.E17E	KLK6_ENST00000376853.4_Silent_p.E17E|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Silent_p.E17E|KLK6_ENST00000594641.1_Silent_p.E17E	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	17					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TATTCTGCTCCTCTGCCCAGG	0.567000													13	30					0	0	0.003163	0	0
SFTPB	6439	broad.mit.edu	37	2	85893805	85893805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:85893805G>A	ENST00000342375.3	-	5	463	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	SFTPB_ENST00000409383.1_Missense_Mutation_p.P122S|SFTPB_ENST00000393822.3_Missense_Mutation_p.P122S|SFTPB_ENST00000519937.2_Missense_Mutation_p.P110S	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	110	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGCACTGGGGCATGAGCAGC	0.612000													28	118					0	0	0.009535	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291234	141291234	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:141291234C>T	ENST00000247452.3	-	3	887	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	180	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGAGTATCACAGGAAAGT	0.478000										HNSCC(46;0.14)			56	143					0	0	0.014410	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206977	142206977	+	RNA	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:142206977G>A	ENST00000426318.2	-	0	34																											TCCAGGGCAGGATCTTGTGTC	0.552000													26	26					0	0	0.007291	0	0
PROS1	5627	broad.mit.edu	37	3	93615531	93615531	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:93615531A>T	ENST00000394236.3	-	9	1170	c.854T>A	c.(853-855)gTt>gAt	p.V285D	PROS1_ENST00000407433.1_Missense_Mutation_p.V154D	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	285					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCACACTGAAACAACCTGGAA	0.353000													10	101					0	0	0.008291	0	0
ACRC	93953	broad.mit.edu	37	X	70823686	70823686	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:70823686G>A	ENST00000373695.1	+	7	1096	c.559G>A	c.(559-561)Gat>Aat	p.D187N	ACRC_ENST00000373696.3_Missense_Mutation_p.D187N			Q96QF7	ACRC_HUMAN	acidic repeat containing	187	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATGATTCGGATGTTCCCGA	0.493000													22	201					0	0	0.014323	0	0
ACAN	176	broad.mit.edu	37	15	89402335	89402335	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:89402335C>T	ENST00000439576.2	+	12	6893	c.6519C>T	c.(6517-6519)acC>acT	p.T2173T	ACAN_ENST00000561243.1_Silent_p.T2173T|ACAN_ENST00000559004.1_Silent_p.T2173T|ACAN_ENST00000352105.7_Silent_p.T2173T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2173					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AATCCACCACCACCAGTGATG	0.582000													23	80					0	0	0.012319	0	0
IRF2	3660	broad.mit.edu	37	4	185310022	185310022	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:185310022A>C	ENST00000393593.3	-	9	1147	c.940T>G	c.(940-942)Tct>Gct	p.S314A		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	314					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGGAGGAAGAAAGGGGGAGG	0.587000													9	56					0	0	0.004482	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128035	117128035	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117128035A>C	ENST00000310357.3	-	3	854	c.833T>G	c.(832-834)cTg>cGg	p.L278R	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L278R|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	278					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAATTGCCTCAGAAATACCAC	0.353000													21	36					0	0	0.010504	0	0
DNAH7	56171	broad.mit.edu	37	2	196602695	196602695	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:196602695C>T	ENST00000312428.6	-	65	12125	c.12025G>A	c.(12025-12027)Gaa>Aaa	p.E4009K	DNAH7_ENST00000409063.1_Missense_Mutation_p.E492K|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4009					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCAGTGTTCCTTGGGTTGG	0.443000													7	27					0	0	0.004482	0	0
HK2	3099	broad.mit.edu	37	2	75117984	75117984	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:75117984C>T	ENST00000290573.2	+	18	3270	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	HK2_ENST00000409174.1_Silent_p.F862F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	890	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.F890F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGTGTCTTTCCTGCAGTCAG	0.552000													47	149					0	0	0.014410	0	0
PLAC8	51316	broad.mit.edu	37	4	84026067	84026067	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:84026067C>T	ENST00000426923.2	-	3	303	c.225G>A	c.(223-225)agG>agA	p.R75R	PLAC8_ENST00000509973.1_Silent_p.R18R|PLAC8_ENST00000311507.4_Silent_p.R75R|PLAC8_ENST00000411416.2_Silent_p.R75R|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Silent_p.R75R	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	75										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CATATCGGGTCCTGTAGAGAG	0.433000													22	59					0	0	0.002780	0	0
MST1L	11223	broad.mit.edu	37	1	17084276	17084276	+	RNA	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:17084276C>T	ENST00000455405.2	-	0	532																											CCTGCAATCTCACACTTGGTC	0.587000													34	404					0	0	0.006999	0	0
COL4A1	1282	broad.mit.edu	37	13	110850886	110850886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:110850886C>T	ENST00000375820.4	-	21	1334	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G405R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	405	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCACTTGGTCCTGGCAGAGAT	0.592000													20	53					0	0	0.008871	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858413	15858413	+	Silent	SNP	T	T	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:15858413T>C	ENST00000285670.2	-	9	1320	c.1146A>G	c.(1144-1146)gaA>gaG	p.E382E	SAMSN1_ENST00000400564.1_Silent_p.E146E|SAMSN1_ENST00000400566.1_Silent_p.E314E	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	314					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGGGCTCAGGTTCATTTTCTT	0.388000													11	22					0	0	0.013537	0	0
OR8B2	26595	broad.mit.edu	37	11	124252384	124252384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:124252384G>A	ENST00000375013.2	-	1	874	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGATGAGGGGATTGAGCATG	0.383000													19	49					0	0	0.007413	0	0
RGPD3	653489	broad.mit.edu	37	2	107073477	107073477	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:107073477C>T	ENST00000409886.3	-	4	442	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E119K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	119					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTGCTCTTTCCACCCAGTAT	0.343000													45	178					0	0	0.014410	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053559	5053559	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:5053559C>T	ENST00000251170.7	+	11	1467	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	429	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGTCTTCCCCGTGCTCTGGA	0.637000													15	31					0	0	0.004007	0	0
SHQ1	55164	broad.mit.edu	37	3	72866508	72866508	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:72866508T>A	ENST00000325599.8	-	7	894	c.755A>T	c.(754-756)cAg>cTg	p.Q252L	SHQ1_ENST00000463369.1_Missense_Mutation_p.Q224L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	252					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTTTCGTAGCTGATACTTCTC	0.348000													8	36					0	0	0.003080	0	0
C16orf11	146325	broad.mit.edu	37	16	614009	614009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:614009G>A	ENST00000409413.3	+	2	994	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	239	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGGCCTCGGCCAGCCCCCT	0.726000													6	11					0	0	0.001984	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	70					0	0	0.004672	0	0
OR10G3	26533	broad.mit.edu	37	14	22038000	22038000	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22038000C>T	ENST00000303532.1	-	1	875	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CCTCTTGGTTCCGCAGAGTGT	0.552000													17	56					0	0	0.006122	0	0
POTEE	445582	broad.mit.edu	37	2	132021834	132021834	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:132021834C>T	ENST00000356920.5	+	15	2900	c.2806C>T	c.(2806-2808)Cta>Tta	p.L936L	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	936	Actin-like.						ATP binding										CAGCTCCTCCCTAGAGAAGAG	0.622000													20	223					0	0	0.007413	0	0
IGSF8	93185	broad.mit.edu	37	1	160062370	160062370	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:160062370G>A	ENST00000368086.1	-	5	1644	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A	IGSF8_ENST00000314485.7_Silent_p.A476A			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	476	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCAGCTGGCGGCCAGCCGCA	0.682000													8	19					0	0	0.006214	0	0
KDM3B	51780	broad.mit.edu	37	5	137766083	137766083	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:137766083C>T	ENST00000314358.5	+	22	5239	c.5039C>T	c.(5038-5040)gCt>gTt	p.A1680V	KDM3B_ENST00000394866.1_Missense_Mutation_p.A1336V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A712V	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1680	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTAGGTGATGCTGTTTTCATA	0.512000													29	98					0	0	0.008361	0	0
NDNF	79625	broad.mit.edu	37	4	121957793	121957793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:121957793G>A	ENST00000379692.4	-	4	1859	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGAAGAGAGGGAAATGACTGC	0.448000													14	116					0	0	0.004990	0	0
PRKG1	5592	broad.mit.edu	37	10	54031112	54031112	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:54031112C>T	ENST00000373980.4	+	11	1593	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.V377V|PRKG1_ENST00000373975.2_Silent_p.V95V|PRKG1_ENST00000373985.1_Silent_p.V365V|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	377	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTTTAAGGTCCAGTTGAAAA	0.408000													5	16					0	0	0.000602	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808199	1808199	+	Silent	SNP	C	C	T	rs151043667	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:1808199C>T	ENST00000518288.1	+	5	565	c.402C>T	c.(400-402)ccC>ccT	p.P134P	ARHGEF10_ENST00000262112.6_Silent_p.P134P|ARHGEF10_ENST00000398564.1_Silent_p.P134P|ARHGEF10_ENST00000520359.1_Silent_p.P110P|ARHGEF10_ENST00000398560.1_Silent_p.P134P|ARHGEF10_ENST00000349830.3_Silent_p.P110P			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	134					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCCGTGCCCAGCGCTGAGG	0.622000													20	78					0	0	0.007413	0	0
SLC4A10	57282	broad.mit.edu	37	2	162815020	162815020	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:162815020T>G	ENST00000375514.5	+	21	3047	c.2760T>G	c.(2758-2760)taT>taG	p.Y920*	SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.Y939*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.Y909*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.Y939*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.Y909*	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	939					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGCTATATGGAGTGTTTC	0.348000													7	32					0	0	0.003080	0	0
ORC1	4998	broad.mit.edu	37	1	52859236	52859236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:52859236G>A	ENST00000371568.3	-	6	1179	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ORC1_ENST00000371566.1_Nonsense_Mutation_p.R321*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	321					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCAATTCGGGTTCTCAGG	0.478000													16	105					0	0	0.007413	0	0
RLIM	51132	broad.mit.edu	37	X	73812410	73812410	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:73812410G>A	ENST00000332687.6	-	4	958	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RLIM_ENST00000349225.2_Missense_Mutation_p.S247L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	247					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCTGAGATGAGATACTATG	0.473000													12	99					0	0	0.013537	0	0
NDUFA9	4704	broad.mit.edu	37	12	4758313	4758313	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:4758313C>T	ENST00000266544.5	+	1	41	c.21C>T	c.(19-21)tcC>tcT	p.S7S	NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	7					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCGCACAATCCCGGGTTGTCC	0.587000													4	17					0	0	0.009096	0	0
CR2	1380	broad.mit.edu	37	1	207644123	207644123	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:207644123G>A	ENST00000367057.3	+	7	1453	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CR2_ENST00000367059.3_Missense_Mutation_p.E422K|CR2_ENST00000458541.2_Missense_Mutation_p.E422K|CR2_ENST00000367058.3_Missense_Mutation_p.E422K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	422	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.E422K(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGGCAAAAGGAAGATAGACA	0.423000													12	46					0	0	0.013537	0	0
HMHA1	23526	broad.mit.edu	37	19	1081008	1081008	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:1081008C>G	ENST00000313093.2	+	17	2366	c.2135C>G	c.(2134-2136)gCc>gGc	p.A712G	HMHA1_ENST00000536472.1_Missense_Mutation_p.A580G|HMHA1_ENST00000539243.2_Missense_Mutation_p.A728G|HMHA1_ENST00000543365.1_Missense_Mutation_p.A595G|HMHA1_ENST00000590577.1_Missense_Mutation_p.A347G|HMHA1_ENST00000590214.1_Missense_Mutation_p.A739G|HMHA1_ENST00000586866.1_Missense_Mutation_p.A716G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACGCCCGCCAAGTGCCGC	0.692000													4	10					0	0	0.009096	0	0
COL12A1	1303	broad.mit.edu	37	6	75899338	75899338	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:75899338C>T	ENST00000322507.8	-	6	897	c.588G>A	c.(586-588)caG>caA	p.Q196Q	COL12A1_ENST00000416123.2_Silent_p.Q196Q|COL12A1_ENST00000483888.2_Silent_p.Q196Q|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	196	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTGGTAGTACTGATTTAAGT	0.358000													12	61					0	0	0.013537	0	0
COL18A1	80781	broad.mit.edu	37	21	46916433	46916433	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:46916433G>C	ENST00000359759.4	+	29	3794	c.3773G>C	c.(3772-3774)gGa>gCa	p.G1258A	COL18A1_ENST00000355480.5_Missense_Mutation_p.G1023A|COL18A1_ENST00000400337.2_Missense_Mutation_p.G843A|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1258	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCCCCCAGGACCTCCAGGG	0.617000													15	97					0	0	0.007413	0	0
SCAND3	114821	broad.mit.edu	37	6	28541106	28541106	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:28541106C>T	ENST00000452236.2	-	4	3177	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	854					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cccaacatttccaagcaaact	0.438000													31	93					0	0	0.012213	0	0
OR2C1	4993	broad.mit.edu	37	16	3406086	3406086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:3406086C>T	ENST00000304936.2	+	1	198	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTTGCTTTCCCGCCTGGAG	0.512000													29	133					0	0	0.010818	0	0
DIS3L	115752	broad.mit.edu	37	15	66604071	66604071	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:66604071G>A	ENST00000319194.5	+	5	580	c.319G>A	c.(319-321)Gac>Aac	p.D107N	DIS3L_ENST00000441424.2_Missense_Mutation_p.D56N|DIS3L_ENST00000319212.4_Missense_Mutation_p.D190N	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	190					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAATTACCTGGACAATTTCTG	0.443000													19	80					0	0	0.008871	0	0
PSG8	440533	broad.mit.edu	37	19	43258474	43258474	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:43258474G>A	ENST00000306511.4	-	5	1351	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	PSG8_ENST00000404209.4_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	418						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGATACTGGGATCCGCTTAC	0.488000													62	348					0	0	0.014410	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036435	21036435	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:21036435T>A	ENST00000381545.3	+	13	1800	c.1581T>A	c.(1579-1581)gaT>gaA	p.D527E	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D527E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D527E|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D527E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	527					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCCAAGAGATAATACTTGTA	0.358000													17	35					0	0	0.006122	0	0
CLN3	1201	broad.mit.edu	37	16	28493690	28493690	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:28493690A>C	ENST00000569430.1	-	14	1739	c.920T>G	c.(919-921)tTt>tGt	p.F307C	CLN3_ENST00000359984.7_Missense_Mutation_p.F307C|CLN3_ENST00000355477.5_Missense_Mutation_p.F259C|CLN3_ENST00000360019.2_Missense_Mutation_p.F307C|CLN3_ENST00000568224.1_Missense_Mutation_p.F229C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.F208C|CLN3_ENST00000357857.9_Missense_Mutation_p.F253C|CLN3_ENST00000535392.1_Missense_Mutation_p.F229C|CLN3_ENST00000354630.5_Missense_Mutation_p.F290C|CLN3_ENST00000333496.9_Missense_Mutation_p.F283C|CLN3_ENST00000565316.1_Missense_Mutation_p.F290C|CLN3_ENST00000357076.5_Missense_Mutation_p.F197C|CLN3_ENST00000395653.4_Missense_Mutation_p.F207C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	307					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTTCCAGAAAAAGAGGAGTTC	0.612000													9	22					0	0	0.006214	0	0
NUFIP1	26747	broad.mit.edu	37	13	45515431	45515431	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:45515431T>G	ENST00000379161.4	-	10	1444	c.1398A>C	c.(1396-1398)gaA>gaC	p.E466D		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	466					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACATTTCTTTCATGTCGAA	0.328000													8	18					0	0	0.003080	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310792	75310792	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:75310792G>A	ENST00000361900.6	+	7	636	c.429G>A	c.(427-429)acG>acA	p.T143T	SCAMP5_ENST00000562212.1_Silent_p.T151T|SCAMP5_ENST00000425597.3_Silent_p.T143T|SCAMP5_ENST00000545456.1_Silent_p.T72T|SCAMP5_ENST00000568081.1_Silent_p.T76T	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	143					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTTCGGAACGAACATTGGCT	0.592000													61	157					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52321550	52321550	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:52321550C>T	ENST00000356297.4	-	17	2734	c.2634G>A	c.(2632-2634)gtG>gtA	p.V878V	PXDNL_ENST00000543296.1_Silent_p.V878V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	878					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGACTGAATCCACCGTCGCAG	0.657000													11	34					0	0	0.008291	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555774	101555774	+	Silent	SNP	C	C	T	rs137882804	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:101555774C>T	ENST00000536262.2	-	13	2166	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	536					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGACAAGTATCCCCACTAATA	0.323000													32	152					0	0	0.003755	0	0
STAG3L4	64940	broad.mit.edu	37	7	66773610	66773610	+	RNA	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:66773610C>T	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACTCAGAGATCATCCAGCACC	0.428000													78	78					0	0	0.014410	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:344305C>T	ENST00000343164.4	-	7	834	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G169E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	261					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAACTGAATTCCTTGGGCTGC	0.557000													14	45					0	0	0.003163	0	0
SF3B1	23451	broad.mit.edu	37	2	198266520	198266520	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:198266520G>A	ENST00000335508.5	-	16	2407	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	772					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGAATAAGGATTAACATCA	0.348000			Mis		myelodysplastic syndrome								8	57					0	0	0.004482	0	0
MAN2B1	4125	broad.mit.edu	37	19	12766548	12766548	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:12766548G>A	ENST00000456935.2	-	14	1830	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	MAN2B1_ENST00000221363.4_Missense_Mutation_p.P596L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	597					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGATCTTCTGGGGATGGGCTG	0.572000													29	125					0	0	0.003271	0	0
SPG7	6687	broad.mit.edu	37	16	89598917	89598917	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:89598917C>T	ENST00000268704.2	+	9	1212	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	SPG7_ENST00000341316.2_Silent_p.A399A	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	399					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AAGCCCGAGCCCGGGCCCCCT	0.597000													17	50					0	0	0.004990	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090792	115090792	+	Missense_Mutation	SNP	T	T	C	rs139821586		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:115090792T>C	ENST00000361283.1	+	3	1784	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	492	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CAGAAACCTGTCTTCCCTGAG	0.502000													70	157					0	0	0.014410	0	0
ZNF283	284349	broad.mit.edu	37	19	44352211	44352211	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:44352211C>T	ENST00000324461.7	+	7	1755	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	ZNF283_ENST00000588797.1_Silent_p.S347S	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTGAGAAATCCCATGAATGTA	0.403000													24	144					0	0	0.014323	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050146	42050146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:42050146C>T	ENST00000372584.1	-	3	1337	c.323G>A	c.(322-324)gGc>gAc	p.G108D	HIVEP3_ENST00000372583.1_Missense_Mutation_p.G108D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G108D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G108D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	108					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGGTTTGCCAGGCGACAT	0.622000													33	128					0	0	0.013726	0	0
FAM181A	90050	broad.mit.edu	37	14	94395153	94395153	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:94395153G>A	ENST00000267594.5	+	3	1015	c.708G>A	c.(706-708)ttG>ttA	p.L236L	FAM181A_ENST00000557000.2_Silent_p.L174L|FAM181A_ENST00000556222.1_Silent_p.L174L|FAM181A_ENST00000557719.1_Silent_p.L174L	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	236										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCAAGGGCTTGGAGCCCCTGG	0.632000													7	28					0	0	0.001984	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229502	124229502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:124229502C>T	ENST00000330342.3	+	13	1836	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	530					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGCCCTTATCCCCTTGGCAT	0.537000													7	42					0	0	0.003080	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973427	29973427	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:29973427G>A	ENST00000378993.1	+	11	2254	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	IL1RAPL1_ENST00000302196.4_Silent_p.L527L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	527	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAGGCCCTGAAGCACACCA	0.423000													12	33					0	0	0.010729	0	0
KRT72	140807	broad.mit.edu	37	12	52981545	52981545	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:52981545C>T	ENST00000293745.2	-	7	1265	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	KRT72_ENST00000354310.4_Missense_Mutation_p.G352S|KRT72_ENST00000537672.2_Missense_Mutation_p.G394S|KRT72_ENST00000398066.3_Missense_Mutation_p.G206S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	394	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCAGGGCGCCCTCCAGCTCA	0.657000													16	63					0	0	0.004990	0	0
MPZL2	10205	broad.mit.edu	37	11	118130808	118130808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:118130808C>T	ENST00000278937.2	-	4	673	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	MPZL2_ENST00000438295.2_Missense_Mutation_p.R182Q	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	182					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTCGGCCCATCGCTTTTTCCG	0.468000													74	229					0	0	0.014410	0	0
TXNL1	9352	broad.mit.edu	37	18	54291641	54291641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:54291641G>A	ENST00000217515.6	-	3	451	c.247C>T	c.(247-249)Cga>Tga	p.R83*	TXNL1_ENST00000590954.1_Nonsense_Mutation_p.R83*|TXNL1_ENST00000540155.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	83	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ACTTTGTTTCGAAAAAACAAA	0.373000													34	106					0	0	0.003755	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665054	6665054	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:6665054G>A	ENST00000326176.9	-	5	879	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TNFSF14_ENST00000599359.1_Silent_p.F202F|TNFSF14_ENST00000245912.3_Silent_p.F166F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	202					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCACCCAGGAAGCTGCTGT	0.652000													38	22					0	0	0.004878	0	0
RFX6	222546	broad.mit.edu	37	6	117245873	117245873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117245873C>T	ENST00000332958.2	+	15	1613	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	533					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGAATACATTCTCCTGGCCAT	0.363000													10	60					0	0	0.008291	0	0
LRFN2	57497	broad.mit.edu	37	6	40400278	40400278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:40400278G>A	ENST00000338305.6	-	2	1117	c.575C>T	c.(574-576)aCc>aTc	p.T192I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	192						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCTGCAAAGGTGCCCTCGGC	0.627000													12	67					0	0	0.002450	0	0
LTBP4	8425	broad.mit.edu	37	19	41113436	41113436	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:41113436G>A	ENST00000308370.7	+	10	1357		c.e10+1		LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCTCAGGTGAGCCCCTG	0.647000													8	8					0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	38983275	38983275	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:38983275C>T	ENST00000355481.4	+	38	6404	c.6274_splice	c.e38+1	p.P2091_splice	RYR1_ENST00000359596.3_Splice_Site_p.P2091_splice|RYR1_ENST00000360985.3_Splice_Site_p.P2091_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2091	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCAAACCCCGTGAGGACT	0.627000													4	18					0	0	0.009096	0	0
NONO	4841	broad.mit.edu	37	X	70514159	70514159	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:70514159C>T	ENST00000535149.1	+	3	807	c.164C>T	c.(163-165)gCc>gTc	p.A55V	NONO_ENST00000276079.8_Missense_Mutation_p.A144V|NONO_ENST00000373841.1_Missense_Mutation_p.A144V|NONO_ENST00000373856.3_Missense_Mutation_p.A144V|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	144	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GTGCGCTTTGCCTGCCATAGT	0.522000			T	TFE3	papillary renal cancer								11	59					0	0	0.013537	0	0
RAVER2	55225	broad.mit.edu	37	1	65255083	65255083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:65255083C>T	ENST00000294428.3	+	5	1069	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	RAVER2_ENST00000430964.2_Nonsense_Mutation_p.Q37*|RAVER2_ENST00000371072.4_Nonsense_Mutation_p.Q331*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	331						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCACAGTAATCAAAAGGGCTT	0.368000													9	24					0	0	0.004482	0	0
MAP3K15	389840	broad.mit.edu	37	X	19390815	19390815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:19390815C>T	ENST00000338883.4	-	22	3063	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.E457K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E854K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1022							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGTTCTGCTCCTCCCAGAGG	0.647000											OREG0019699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	63					0	0	0.004482	0	0
NLGN1	22871	broad.mit.edu	37	3	173322668	173322668	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:173322668C>T	ENST00000457714.1	+	3	709	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NLGN1_ENST00000545397.1_Missense_Mutation_p.R94C|NLGN1_ENST00000401917.3_Missense_Mutation_p.R94C|NLGN1_ENST00000361589.4_Missense_Mutation_p.R94C	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	94					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453000													46	83					0	0	0.014410	0	0
OR1L1	26737	broad.mit.edu	37	9	125424517	125424517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:125424517C>T	ENST00000373686.1	+	1	673	c.673C>T	c.(673-675)Cat>Tat	p.H225Y				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAATGTCATCCATCACTTTTT	0.428000													51	175					0	0	0.014410	0	0
MAPRE1	22919	broad.mit.edu	37	20	31427587	31427587	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:31427587G>A	ENST00000375571.5	+	5	661	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	174	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CGGCTCCTAAGGCTGGCCCTG	0.557000													74	217					0	0	0.014410	0	0
TLR2	7097	broad.mit.edu	37	4	154625113	154625113	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:154625113C>T	ENST00000260010.6	+	1	2462	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	352					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTTTCTGGTTCCTTGTTTACT	0.303000													14	37					0	0	0.001855	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72024626	72024626	+	Silent	SNP	T	T	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:72024626T>A	ENST00000378743.3	-	17	3937	c.3579A>T	c.(3577-3579)acA>acT	p.T1193T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1193					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCATTACATGTTCCTGTTA	0.333000													14	36					0	0	0.002450	0	0
CRYZL1	9946	broad.mit.edu	37	21	34988899	34988899	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:34988899G>A	ENST00000413017.2	-	6	320	c.273C>T	c.(271-273)tcC>tcT	p.S91S	CRYZL1_ENST00000381540.3_Intron|CRYZL1_ENST00000290244.5_Intron|CRYZL1_ENST00000361534.2_Intron|CRYZL1_ENST00000381554.3_Intron|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	237					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						cacccagccGGGAAAGTACTT	0.463000													4	7					0	0	0.009096	0	0
KLHL7	55975	broad.mit.edu	37	7	23180540	23180540	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:23180540C>G	ENST00000322231.7	+	6	1019	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.L123V|KLHL7_ENST00000409689.1_Missense_Mutation_p.L151V|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000339077.4_Missense_Mutation_p.L199V|KLHL7_ENST00000545443.1_Missense_Mutation_p.L177V			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	199						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGGACACTCTGACTGTGAG	0.353000													19	57					0	0	0.014323	0	0
COL18A1	80781	broad.mit.edu	37	21	46916434	46916434	+	Silent	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:46916434A>C	ENST00000359759.4	+	29	3795	c.3774A>C	c.(3772-3774)ggA>ggC	p.G1258G	COL18A1_ENST00000355480.5_Silent_p.G1023G|COL18A1_ENST00000400337.2_Silent_p.G843G|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1258	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCCCCAGGACCTCCAGGGC	0.617000													15	100					0	0	0.007413	0	0
C2orf71	388939	broad.mit.edu	37	2	29295441	29295441	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:29295441C>T	ENST00000331664.5	-	1	1686	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	563					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						TCAGACCAGTCCTGGTGCCCA	0.597000													15	47					0	0	0.006122	0	0
OR10G8	219869	broad.mit.edu	37	11	123900575	123900575	+	Silent	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:123900575T>G	ENST00000431524.1	+	1	279	c.246T>G	c.(244-246)acT>acG	p.T82T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGCTGATGACTTTGGTGTTCC	0.517000													26	68					0	0	0.006320	0	0
PLB1	151056	broad.mit.edu	37	2	28854914	28854914	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:28854914C>T	ENST00000422425.2	+	54	3920	c.3876C>T	c.(3874-3876)tcC>tcT	p.S1292S	PLB1_ENST00000541605.1_Silent_p.S268S|PLB1_ENST00000327757.5_Silent_p.S1303S	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1303	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGGCATCTCCAGTTTCTCCT	0.557000													12	56					0	0	0.002450	0	0
DGCR5	26220	broad.mit.edu	37	22	18979458	18979458	+	RNA	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:18979458G>A	ENST00000438934.1	+	0	2809				DGCR5_ENST00000440005.2_RNA																							ATGGAGAAGCGAACCAAGCCT	0.577000													13	27					0	0	0.002450	0	0
CDK9	1025	broad.mit.edu	37	9	130549800	130549800	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:130549800C>T	ENST00000373265.2	+	3	529	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.P60S			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	60	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CACCCAGTTCCCCATTACAGC	0.493000													11	55					0	0	0.001855	0	0
DCX	1641	broad.mit.edu	37	X	110653558	110653558	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:110653558C>T	ENST00000338081.3	-	2	483	c.312G>A	c.(310-312)atG>atA	p.M104I	DCX_ENST00000488120.1_Missense_Mutation_p.M23I|DCX_ENST00000371993.2_Missense_Mutation_p.M23I|DCX_ENST00000356220.3_Missense_Mutation_p.M23I|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.M23I	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	104					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCAACCCATTCATCCGGGAGC	0.502000													35	92					0	0	0.003271	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261270	1261270	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:1261270C>T	ENST00000348261.5	+	22	4574	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	CACNA1H_ENST00000565831.1_Silent_p.I1442I|CACNA1H_ENST00000358590.4_Silent_p.I1442I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1442					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTTCTTCATCATTTTTGGCA	0.627000													23	95					0	0	0.003755	0	0
PCLO	27445	broad.mit.edu	37	7	82785402	82785402	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:82785402G>A	ENST00000423517.2	-	2	892	c.555C>T	c.(553-555)tcC>tcT	p.S185S	PCLO_ENST00000333891.8_Silent_p.S185S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	185					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTTCCTGGGATGCCTCAG	0.428000													22	21					0	0	0.002780	0	0
FBP2	8789	broad.mit.edu	37	9	97321399	97321399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:97321399C>T	ENST00000375337.3	-	7	907	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	281					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGATTGCATTCATACAGGAGC	0.592000													5	26					0	0	0.001168	0	0
ZNF366	167465	broad.mit.edu	37	5	71756366	71756366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:71756366G>A	ENST00000318442.5	-	2	1448	c.958C>T	c.(958-960)Cag>Tag	p.Q320*		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGCTGGTCTGGGTGAAGGCC	0.647000													6	28					0	0	0.001984	0	0
RCOR3	55758	broad.mit.edu	37	1	211469090	211469090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:211469090C>T	ENST00000367005.4	+	8	979	c.838C>T	c.(838-840)Cct>Tct	p.P280S	RCOR3_ENST00000419091.2_Missense_Mutation_p.P338S|RCOR3_ENST00000452621.2_Missense_Mutation_p.P338S|RCOR3_ENST00000367006.4_Missense_Mutation_p.P338S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTCAAACCTCCTGAGGTATG	0.343000													3	16					0	0	0.004672	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499251	34499251	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:34499251T>A	ENST00000454519.3	-	7	609	c.460A>T	c.(460-462)Agg>Tgg	p.R154W	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.R154W	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	154	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATATGCTTCCTTAATGTCCCG	0.562000													67	668					0	0	0.014410	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133692579	133692579	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:133692579C>G	ENST00000310926.4	-	3	598	c.325G>C	c.(325-327)Gct>Cct	p.A109P	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A109P|SLCO2A1_ENST00000478651.1_5'UTR	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	109					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						GCACCTGCAGCCAGGAAGAGA	0.577000													4	27					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113668566	113668566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:113668566G>A	ENST00000297405.5	-	18	3065	c.2821C>T	c.(2821-2823)Cag>Tag	p.Q941*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q837*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q941*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q901*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	941	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTTCAGTCTGAAATCTAAGA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	40					0	0	0.004990	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543033	133543033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:133543033G>A	ENST00000409261.1	-	14	1724	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P451S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	451							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTTGCAGGGGGGATACTCC	0.468000													11	40					0	0	0.008291	0	0
TACC2	10579	broad.mit.edu	37	10	123846376	123846376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:123846376G>A	ENST00000369005.1	+	4	4701	c.4361G>A	c.(4360-4362)gGg>gAg	p.G1454E	TACC2_ENST00000515273.1_Missense_Mutation_p.G1454E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G1454E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1454E|TACC2_ENST00000453444.2_Missense_Mutation_p.G1454E|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1454						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCTAGATGGGCCTCCAGGA	0.592000													6	20					0	0	0.003080	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029969	95029969	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:95029969G>A	ENST00000557004.1	+	2	571	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.K50K|SERPINA4_ENST00000555095.1_Silent_p.K50K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	50					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCCTCAAGATAGCCCCTG	0.562000													26	85					0	0	0.005443	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213115	96213115	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:96213115G>A	ENST00000324765.8	+	16	2250	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	DIAPH2_ENST00000373061.3_Missense_Mutation_p.E635K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E635K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E635K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E631K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	635	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTATAAACCTGAAGTGTCCAT	0.398000													12	63					0	0	0.013537	0	0
MYO1H	283446	broad.mit.edu	37	12	109844618	109844618	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:109844618C>T	ENST00000310903.5	+	9	1046	c.940C>T	c.(940-942)Ctt>Ttt	p.L314F	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.L314F			B4DNW6	B4DNW6_HUMAN	myosin IH	62						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCCATCAGTCCTTCTGGAAGC	0.453000													21	74					0	0	0.003330	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	117					0	0	0.001168	0	0
SMARCC1	6599	broad.mit.edu	37	3	47702787	47702787	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:47702787G>C	ENST00000254480.5	-	21	2436	c.2317C>G	c.(2317-2319)Ctt>Gtt	p.L773V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	773	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GACTCACCAAGCTTCTCTGGC	0.473000													32	61					0	0	0.006999	0	0
CHGA	1113	broad.mit.edu	37	14	93393957	93393957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:93393957C>T	ENST00000216492.5	+	4	530	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	CHGA_ENST00000334654.4_Missense_Mutation_p.L84F|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	84					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGACCTCGCTCTCCAAGGTAT	0.463000													38	132					0	0	0.006230	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47279916G>A	ENST00000271153.4	+	7	844	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CYP4B1_ENST00000371919.4_Missense_Mutation_p.D256N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D271N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D108N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCCCTGCAGGATGAGAAGGT	0.577000													5	27					0	0	0.001168	0	0
ZNF638	27332	broad.mit.edu	37	2	71650395	71650395	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:71650395A>T	ENST00000409544.1	+	22	4381	c.3751A>T	c.(3751-3753)Att>Ttt	p.I1251F	ZNF638_ENST00000409407.1_Missense_Mutation_p.I191F|ZNF638_ENST00000264447.4_Missense_Mutation_p.I1251F|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1251	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAAGATTTCATTTCTGGAAT	0.368000													12	37					0	0	0.013537	0	0
PBX4	80714	broad.mit.edu	37	19	19681003	19681003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:19681003C>T	ENST00000251203.8	-	4	833	c.547G>A	c.(547-549)Ggc>Agc	p.G183S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	183							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTGAACTTGCCGTGAATGGCG	0.607000													11	49					0	0	0.010729	0	0
CCDC6	8030	broad.mit.edu	37	10	61566766	61566766	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:61566766C>T	ENST00000263102.6	-	6	1149	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	306						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCTGCAGCTTCCTCTGGAGCC	0.478000			T	RET	NSCLC								6	19					0	0	0.001984	0	0
PSG8	440533	broad.mit.edu	37	19	43258475	43258475	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:43258475A>C	ENST00000306511.4	-	5	1350	c.1253T>G	c.(1252-1254)aTc>aGc	p.I418S	PSG8_ENST00000404209.4_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	418						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGATACTGGGATCCGCTTACC	0.488000													61	351					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168101989	168101989	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:168101989A>C	ENST00000409195.1	+	9	4176	c.4087A>C	c.(4087-4089)Aat>Cat	p.N1363H	XIRP2_ENST00000295237.9_Missense_Mutation_p.N1363H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1141H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1188					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACTCTATTAATAAATCAGA	0.368000													6	19					0	0	0.004482	0	0
ITFG1	81533	broad.mit.edu	37	16	47294474	47294474	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:47294474G>A	ENST00000320640.6	-	11	1431	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Silent_p.F288F	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	401						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AAATGTCAAAGAAGGTGGCAA	0.423000													13	51					0	0	0.004990	0	0
WARS2	10352	broad.mit.edu	37	1	119619093	119619093	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:119619093G>A	ENST00000369426.5	-	2	231	c.228C>T	c.(226-228)ctC>ctT	p.L76L	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Silent_p.L76L			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	76					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TAATGGAGTGGAGGTCAACAA	0.502000													16	76					0	0	0.004007	0	0
IGHG3	3502	broad.mit.edu	37	14	106235796	106235796	+	RNA	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:106235796G>C	ENST00000390551.2	-	0	910																											CGATGTCGCTGGGGTAGAAGC	0.622000													55	185					0	0	0.014410	0	0
VSIG1	340547	broad.mit.edu	37	X	107301308	107301308	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107301308C>T	ENST00000415430.3	+	2	251	c.90C>T	c.(88-90)ttC>ttT	p.F30F	VSIG1_ENST00000217957.5_Silent_p.F30F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	30	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGACGGTTTCGTGAACGTGA	0.428000													4	52					0	0	0.009096	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502321	140502321	+	Silent	SNP	G	G	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140502321G>T	ENST00000194152.1	+	1	741	c.741G>T	c.(739-741)ggG>ggT	p.G247G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCATATGGGGTGCAGGTCC	0.488000													25	84					1.55469e-16	2.05892e-16	0.003330	1	0
CACNA1B	774	broad.mit.edu	37	9	140946639	140946639	+	Splice_Site	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:140946639A>C	ENST00000277549.5	+	26	3963	c.1395_splice	c.e26+1	p.K465_splice	CACNA1B_ENST00000371372.1_Splice_Site_p.K1269_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.K1270_splice|CACNA1B_ENST00000371357.1_Splice_Site_p.K1270_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.K1269_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.K1269_splice			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1269					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCAAGCTCAAGGTTAGAGCC	0.532000													5	11					0	0	0.001168	0	0
AC005609.1	0	broad.mit.edu	37	5	140242780	140242780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140242780C>T	ENST00000502505.1	-	1	444	c.196G>A	c.(196-198)Gac>Aac	p.D66N	PCDHA14_ENST00000562220.1_RNA|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron																							GTGGTGGCGTCGCTGGCGGAG	0.672000													6	18					0	0	0.001168	0	0
PLCB4	5332	broad.mit.edu	37	20	9440420	9440420	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:9440420G>A	ENST00000378501.2	+	31	3190	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1071K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1059K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1059K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1071K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1059K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1059					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAATGCCCACGAGCAGCAAAC	0.468000													5	27					0	0	0.000602	0	0
CD163L1	283316	broad.mit.edu	37	12	7527496	7527496	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7527496G>A	ENST00000313599.3	-	12	3082	c.3025C>T	c.(3025-3027)Cca>Tca	p.P1009S	CD163L1_ENST00000396630.1_Missense_Mutation_p.P1009S|CD163L1_ENST00000416109.2_Missense_Mutation_p.P1019S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1009						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCGAGGCATGGAAACAGTGGC	0.458000													15	50					0	0	0.004990	0	0
ANK1	286	broad.mit.edu	37	8	41525854	41525854	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:41525854C>T	ENST00000396942.1	-	39	5408	c.5325G>A	c.(5323-5325)agG>agA	p.R1775R	ANK1_ENST00000289734.7_Silent_p.R1775R|ANK1_ENST00000352337.4_Silent_p.R1775R|ANK1_ENST00000265709.8_Silent_p.R1816R|ANK1_ENST00000347528.4_Silent_p.R1775R|ANK1_ENST00000379758.2_Silent_p.R1775R|ANK1_ENST00000396945.1_Silent_p.R1775R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1775	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1816S(1)|p.R1775S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTCCGGTCCCTGTCGGCCT	0.622000													15	57					0	0	0.002450	0	0
ZNF169	169841	broad.mit.edu	37	9	97062951	97062951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:97062951G>A	ENST00000395395.2	+	5	1201	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				ACACACAGGGGAGAGGCCCTT	0.577000													7	34					0	0	0.003080	0	0
ZNF395	55893	broad.mit.edu	37	8	28206337	28206337	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:28206337C>T	ENST00000344423.5	-	10	1572	c.1441G>A	c.(1441-1443)Ggg>Agg	p.G481R	ZNF395_ENST00000523202.1_Missense_Mutation_p.G481R|ZNF395_ENST00000523095.1_Missense_Mutation_p.G481R	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	481					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G481W(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TTAGCCTCCCCTCGGGCTTTC	0.627000													16	45					0	0	0.007413	0	0
PBRM1	55193	broad.mit.edu	37	3	52610700	52610700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:52610700C>T	ENST00000356770.4	-	21	3454	c.3452G>A	c.(3451-3453)tGg>tAg	p.W1151*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.W1183*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.W1183*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.W1198*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.W1183*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.W1158*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.W1198*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.W1158*			Q86U86	PB1_HUMAN	polybromo 1	1183					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTCGAACCCATACTTTTTC	0.328000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								15	18					0	0	0.004007	0	0
CSAD	51380	broad.mit.edu	37	12	53563896	53563896	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:53563896G>A	ENST00000267085.4	-	10	976	c.743C>T	c.(742-744)cCc>cTc	p.P248L	CSAD_ENST00000379843.3_Missense_Mutation_p.P74L|CSAD_ENST00000453446.2_Missense_Mutation_p.P221L|CSAD_ENST00000444623.1_Missense_Mutation_p.P221L|CSAD_ENST00000379846.1_Missense_Mutation_p.P74L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGATCCTCGGGGACCATTTT	0.527000													15	58					0	0	0.006122	0	0
T	6862	broad.mit.edu	37	6	166580255	166580255	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:166580255T>C	ENST00000296946.2	-	3	764	c.296A>G	c.(295-297)aAc>aGc	p.N99S	T_ENST00000366871.3_Missense_Mutation_p.N99S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	99					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCAGCGGTGGTTGTCCGCCGC	0.637000									Chordoma, Familial Clustering of				26	40					0	0	0.004656	0	0
MAP7D3	79649	broad.mit.edu	37	X	135328301	135328301	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:135328301T>G	ENST00000316077.9	-	3	396	c.176A>C	c.(175-177)gAt>gCt	p.D59A	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D59A|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D41A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	59						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATGGATCCATCGATTACTAA	0.299000													15	64					0	0	0.003163	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714307	70714307	+	RNA	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:70714307G>C	ENST00000530196.1	-	0	211					NR_003951.1																						GCCAGAAATAGACAAAAATAC	0.527000													19	77					0	0	0.012319	0	0
TTC3	7267	broad.mit.edu	37	21	38555196	38555196	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:38555196G>C	ENST00000399017.2	+	36	7485	c.4738G>C	c.(4738-4740)Gtt>Ctt	p.V1580L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.V1580L|TTC3_ENST00000354749.2_Missense_Mutation_p.V1580L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1580					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATTAAAAAGGTTTCAAATGC	0.259000													8	19					0	0	0.006214	0	0
IQUB	154865	broad.mit.edu	37	7	123092876	123092876	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:123092876C>T	ENST00000466202.1	-	13	2873	c.2297G>A	c.(2296-2298)gGt>gAt	p.G766D	IQUB_ENST00000324698.6_Missense_Mutation_p.G766D			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	766										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATCAATTTCACCATCATCAAG	0.383000													14	15					0	0	0.002450	0	0
OPRD1	4985	broad.mit.edu	37	1	29189427	29189427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:29189427G>A	ENST00000234961.2	+	3	993	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	251					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GGGCTCCAAGGAGAAGGACCG	0.637000													5	32					0	0	0.000602	0	0
MAST4	375449	broad.mit.edu	37	5	66461218	66461218	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:66461218G>A	ENST00000404260.3	+	29	6528	c.6220G>A	c.(6220-6222)Gag>Aag	p.E2074K	MAST4_ENST00000261569.7_Missense_Mutation_p.E1877K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1882K|MAST4_ENST00000405643.1_Missense_Mutation_p.E1892K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2071K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2074						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGTGAGAAGGAGCTGGGCAA	0.602000													13	43					0	0	0.013537	0	0
GPR123	84435	broad.mit.edu	37	10	134886590	134886590	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:134886590C>T	ENST00000607359.1	+	3	624	c.624C>T	c.(622-624)ctC>ctT	p.L208L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	246						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCCATGCTCGTCTGTGAGG	0.672000													3	8					0	0	0.009096	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960102	10960102	+	Missense_Mutation	SNP	G	G	A	rs141411603		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:10960102G>A	ENST00000254488.2	+	8	1150	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	362					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.E362K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TATGGCGTACGAGCAGGGGGT	0.577000													10	25					0	0	0.006214	0	0
GGA3	23163	broad.mit.edu	37	17	73237075	73237075	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:73237075C>G	ENST00000245541.6	-	11	1226	c.1010G>C	c.(1009-1011)aGt>aCt	p.S337T	GGA3_ENST00000351904.7_Missense_Mutation_p.S304T|GGA3_ENST00000538886.1_Missense_Mutation_p.S215T|GGA3_ENST00000582717.1_Missense_Mutation_p.S265T|GGA3_ENST00000582486.1_Missense_Mutation_p.S265T|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.S215T	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	337	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGGACAAACTGTTGGTCGT	0.592000											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	35					0	0	0.008740	0	0
LY9	4063	broad.mit.edu	37	1	160786462	160786462	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:160786462C>T	ENST00000263285.5	+	5	1181	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.S36F|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.S36F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	384	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGACCTGCTCCGTGGAGGAC	0.572000													3	12					0	0	0.009096	0	0
PCDH9	5101	broad.mit.edu	37	13	67799670	67799670	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:67799670G>A	ENST00000544246.1	-	2	3594	c.2903C>T	c.(2902-2904)cCt>cTt	p.P968L	PCDH9_ENST00000456367.1_Missense_Mutation_p.P968L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P968L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P968L|PCDH9_ENST00000377865.2_Missense_Mutation_p.P968L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	968					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTGTCCAAAGGGAGTTCCTG	0.498000													27	58					0	0	0.009535	0	0
PI16	221476	broad.mit.edu	37	6	36929689	36929689	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:36929689C>T	ENST00000373674.3	+	4	859	c.531C>T	c.(529-531)taC>taT	p.Y177Y		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	177						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGCCCTACCAGGAGGGGA	0.637000													12	74					0	0	0.010729	0	0
OR2J2	26707	broad.mit.edu	37	6	29141485	29141485	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:29141485G>A	ENST00000377167.2	+	1	175	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCCTCAGCTGGAAGTAGTTCT	0.378000													28	112					0	0	0.006320	0	0
COL6A3	1293	broad.mit.edu	37	2	238285927	238285927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:238285927G>A	ENST00000295550.4	-	7	3010	c.2558C>T	c.(2557-2559)cCt>cTt	p.P853L	COL6A3_ENST00000392003.2_Missense_Mutation_p.P446L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P653L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P652L|COL6A3_ENST00000392004.3_Missense_Mutation_p.P647L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P246L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P647L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P647L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	853	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGGACAACAGGGAACTGGCC	0.502000													22	55					0	0	0.014323	0	0
GLB1	2720	broad.mit.edu	37	3	33058329	33058329	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:33058329G>A	ENST00000307363.5	-	14	1495	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	GLB1_ENST00000445488.2_Missense_Mutation_p.P499S|GLB1_ENST00000307377.8_Missense_Mutation_p.P320S|GLB1_ENST00000399402.3_Missense_Mutation_p.P421S|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	451					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACTCCCTGGGGGATCTGTGGG	0.478000													25	38					0	0	0.002780	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000458599.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													6	15					0	0	0.001168	0	0
JDP2	122953	broad.mit.edu	37	14	75928163	75928163	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:75928163G>A	ENST00000435893.2	+	3	509	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	JDP2_ENST00000437176.1_Missense_Mutation_p.R79Q|JDP2_ENST00000267569.5_Missense_Mutation_p.R90Q|JDP2_ENST00000419727.2_Missense_Mutation_p.R79Q	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	79						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AAAAGGCGCCGGGAGAAGAAC	0.587000													10	15					0	0	0.001855	0	0
COL4A5	1287	broad.mit.edu	37	X	107815042	107815042	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107815042G>A	ENST00000328300.6	+	8	684	c.438_splice	c.e8-1	p.G147_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G147_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	147	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAATAATAGGGACCCCCTGGG	0.348000									Alport syndrome with Diffuse Leiomyomatosis				9	44					0	0	0.006214	0	0
ZNF878	729747	broad.mit.edu	37	19	12155500	12155500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:12155500G>A	ENST00000602107.1	-	5	856	c.857C>T	c.(856-858)cCc>cTc	p.P286L	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.P239L|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TAACGAACTGGGAGAAAAAAA	0.378000													20	64					0	0	0.008871	0	0
SAGE1	55511	broad.mit.edu	37	X	134987465	134987465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:134987465G>A	ENST00000535938.1	+	5	535	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SAGE1_ENST00000370709.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.R123Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	123										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCCAATCTCGAACTGACAAA	0.468000													10	65					0	0	0.008291	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480103	120480103	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:120480103G>C	ENST00000222747.3	-	3	734	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L43V	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	43					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GTTAAAGTGAGAACATTATTT	0.358000													11	44					0	0	0.008291	0	0
ADAM21	8747	broad.mit.edu	37	14	70925765	70925765	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:70925765A>T	ENST00000603540.1	+	2	1807	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	ADAM21_ENST00000267499.3_Missense_Mutation_p.I517F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	517	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGCAGGGAGATTTTTGGTAA	0.418000													6	48					0	0	0.006214	0	0
GABRA2	2555	broad.mit.edu	37	4	46314589	46314589	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:46314589A>T	ENST00000510861.1	-	5	573	c.400T>A	c.(400-402)Tca>Aca	p.S134T	GABRA2_ENST00000515082.1_Missense_Mutation_p.S134T|GABRA2_ENST00000381620.4_Missense_Mutation_p.S134T|GABRA2_ENST00000514090.1_Missense_Mutation_p.S134T|GABRA2_ENST00000356504.1_Missense_Mutation_p.S134T|GABRA2_ENST00000540012.1_Missense_Mutation_p.S79T|GABRA2_ENST00000507069.1_Missense_Mutation_p.S134T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	134					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAGCTACTGATTTTTTCCCA	0.348000													10	76					0	0	0.013537	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:166926004C>T	ENST00000271417.3	-	3	520	c.465G>A	c.(463-465)ggG>ggA	p.G155G	ILDR2_ENST00000529071.1_Silent_p.G155G|ILDR2_ENST00000469934.2_Silent_p.G155G|ILDR2_ENST00000529387.1_Silent_p.G155G|ILDR2_ENST00000526687.1_Silent_p.G155G|ILDR2_ENST00000525740.1_Silent_p.G155G|ILDR2_ENST00000528703.1_Silent_p.G155G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000													19	42					0	0	0.012319	0	0
GPX6	257202	broad.mit.edu	37	6	28483487	28483487	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:28483487G>A	ENST00000361902.1	-	1	83	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.L12L	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	12					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGGAAAAACAGGACAAGACAG	0.552000													7	35					0	0	0.003080	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679718	160679718	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:160679718G>A	ENST00000366952.1	-	3	1490	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SLC22A2_ENST00000366953.3_Silent_p.F24F|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	24					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGCCAAGAGGAAAAACATTT	0.622000													6	53					0	0	0.001168	0	0
TLE4	7091	broad.mit.edu	37	9	82333688	82333688	+	Silent	SNP	T	T	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:82333688T>C	ENST00000376520.4	+	16	2316	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	TLE4_ENST00000376534.4_Silent_p.F101F|TLE4_ENST00000376537.4_Silent_p.F496F|TLE4_ENST00000376544.3_Silent_p.F395F|TLE4_ENST00000376552.2_Silent_p.F464F|TLE4_ENST00000265284.6_Silent_p.F439F			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGTCCCTTTTCCACCCGACG	0.547000													19	71					0	0	0.010504	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762229	23762229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:23762229C>T	ENST00000397312.2	-	2	278	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ELAVL2_ENST00000544538.1_Missense_Mutation_p.E2K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E2K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E2K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E31K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	2					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTTGTGTTTCCATGGCAGCA	0.398000													36	84					0	0	0.003755	0	0
NCOR2	9612	broad.mit.edu	37	12	124832746	124832746	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:124832746C>T	ENST00000356219.3	-	30	4135	c.3980G>A	c.(3979-3981)aGa>aAa	p.R1327K	NCOR2_ENST00000404121.2_Missense_Mutation_p.R881K|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1320K|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1310K|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1310K|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1311K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1328					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGATGGCTCTGCCCACGCG	0.647000											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	63					0	0	0.013537	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740509	50740509	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:50740509G>A	ENST00000008391.3	+	8	1519	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	431							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGCCAACTCGGAGAAAGCTCC	0.478000													4	18					0	0	0.001984	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32981800	32981800	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:32981800C>G	ENST00000380130.2	-	2	384	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.E97Q|N4BP2L1_ENST00000380133.2_Missense_Mutation_p.E97Q	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	97					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TGGTTCCATTCATGAGCTTCC	0.443000													26	48					0	0	0.004656	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000261368.8_Silent_p.T27T	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					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)		CACTCAAGACGATCCCAGAAC	0.453000													31	92					0	0	0.010818	0	0
FSD2	123722	broad.mit.edu	37	15	83440852	83440852	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:83440852C>T	ENST00000334574.8	-	7	1421	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	FSD2_ENST00000541889.1_Missense_Mutation_p.D414N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	414	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGTGAGCTGTCCTGCACTGGC	0.612000													5	17					0	0	0.001168	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186103	12186103	+	Missense_Mutation	SNP	C	C	T	rs140319459		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:12186103C>T	ENST00000263932.2	+	11	1471	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R306W	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	417					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGAATTCGGCAGAGTAA	0.632000													41	96					0	0	0.008740	0	0
FAM163B	642968	broad.mit.edu	37	9	136444264	136444264	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136444264G>C	ENST00000496132.1	-	3	625	c.381C>G	c.(379-381)agC>agG	p.S127R	FAM163B_ENST00000356873.3_Missense_Mutation_p.S127R			P0C2L3	F163B_HUMAN	family with sequence similarity 163, member B	127						integral to membrane				large_intestine(1)	1						CGTCCTCCTGGCTCACGCTCT	0.711000													5	17					0	0	0.000602	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090797	115090797	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:115090797C>T	ENST00000361283.1	+	3	1789	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	494	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ACCTGTCTTCCCTGAGACCCG	0.493000													69	154					0	0	0.014410	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468710	26468710	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:26468710C>G	ENST00000312541.5	+	8	1765	c.1517C>G	c.(1516-1518)gCc>gGc	p.A506G	BTN2A1_ENST00000541522.1_Missense_Mutation_p.A445G|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	506	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCACAGGAGCCAATGGGGTC	0.562000													7	117					0	0	0.003080	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352685	16352685	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:16352685G>A	ENST00000375692.1	+	6	569	c.441G>A	c.(439-441)aaG>aaA	p.K147K	CLCNKA_ENST00000420078.1_Silent_p.K147K|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.K104K|CLCNKA_ENST00000331433.4_Silent_p.K147K			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	147					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTGGGGCCAAGGTGGTGGGCC	0.612000													66	183					0	0	0.014410	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	C	T	rs141274906	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:107288807C>T	ENST00000277216.3	-	1	683	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000													27	88					0	0	0.005443	0	0
CD163L1	283316	broad.mit.edu	37	12	7521534	7521534	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7521534G>A	ENST00000313599.3	-	16	4124	c.4067C>T	c.(4066-4068)tCc>tTc	p.S1356F	CD163L1_ENST00000396630.1_Missense_Mutation_p.S1356F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1366F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1356						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S1356F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TATACCTGAGGAGGCATTCAG	0.443000													14	61					0	0	0.001855	0	0
PAGE2	203569	broad.mit.edu	37	X	55116530	55116530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:55116530C>T	ENST00000374968.4	+	2	181	c.77C>T	c.(76-78)tCt>tTt	p.S26F	PAGE2_ENST00000374965.1_Missense_Mutation_p.S26F	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						CCGGTTGGATCTGTGATTGTG	0.353000													5	35					0	0	0.001168	0	0
C4orf21	55345	broad.mit.edu	37	4	113540102	113540102	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:113540102G>T	ENST00000505019.1	-	6	1221	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	C4orf21_ENST00000445203.2_Missense_Mutation_p.L335I|C4orf21_ENST00000309071.5_Missense_Mutation_p.L366I	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	366										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTAATGAAAGGTCTTTCAAA	0.368000													6	64					8.12818e-05	0.000107065	0.001984	1	0
NUP62CL	54830	broad.mit.edu	37	X	106396512	106396512	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:106396512G>A	ENST00000372466.4	-	7	671	c.420C>T	c.(418-420)atC>atT	p.I140I	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	140					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						GCTGTGACAGGATAAAATCCA	0.373000													15	96					0	0	0.004007	0	0
EPHA4	2043	broad.mit.edu	37	2	222347308	222347308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:222347308G>A	ENST00000281821.2	-	5	1123	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	EPHA4_ENST00000409854.1_Missense_Mutation_p.S361F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S310F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S361F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	361	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S361F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACATTATAGGAAATGTCCTG	0.517000													33	145					0	0	0.003755	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114015	117114015	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117114015C>T	ENST00000310357.3	-	6	2092	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D620N|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D516N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	691					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTTGGGATCAAAGCTGAAG	0.418000													7	33					0	0	0.004482	0	0
CECR2	27443	broad.mit.edu	37	22	17976561	17976561	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:17976561C>T	ENST00000262608.8	+	2	225	c.225C>T	c.(223-225)atC>atT	p.I75I	CECR2_ENST00000400573.4_Silent_p.I94I|CECR2_ENST00000342247.5_Silent_p.I74I|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	116					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGTGGAGATCCTGCACCGAC	0.542000													43	65					0	0	0.014410	0	0
STON1	11037	broad.mit.edu	37	2	48808304	48808304	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:48808304G>A	ENST00000309835.3	+	1	542	c.532G>A	c.(532-534)Gag>Aag	p.E178K	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E178K|STON1_ENST00000406226.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E178K|STON1_ENST00000404752.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E178K					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATTTTCGAGAGGACTGTGC	0.433000													6	40					0	0	0.001984	0	0
MARCH6	10299	broad.mit.edu	37	5	10390517	10390517	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:10390517G>C	ENST00000274140.5	+	6	613	c.481G>C	c.(481-483)Gtg>Ctg	p.V161L	MARCH6_ENST00000449913.2_Missense_Mutation_p.V113L|MARCH6_ENST00000503788.1_Missense_Mutation_p.V56L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	161					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATCAGCCTGGTGTGGTTGAG	0.458000													17	49					0	0	0.006122	0	0
YLPM1	56252	broad.mit.edu	37	14	75283808	75283808	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:75283808G>C	ENST00000325680.7	+	14	5984	c.5860G>C	c.(5860-5862)Gag>Cag	p.E1954Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.E1248Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.E1719Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAAGGGATTTGAGGTAGAAGC	0.358000													6	21					0	0	0.001168	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864327	102864327	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:102864327G>C	ENST00000372628.1	+	3	693	c.335G>C	c.(334-336)aGa>aCa	p.R112T	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R112T|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R112T			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAAGCAAAAAGAAAAACGGAC	0.582000													16	97					0	0	0.006122	0	0
KDM5C	8242	broad.mit.edu	37	X	53223567	53223567	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:53223567G>A	ENST00000452825.3	-	21	4123	c.3591C>T	c.(3589-3591)gcC>gcT	p.A1197A	KDM5C_ENST00000375379.3_Silent_p.A1264A|KDM5C_ENST00000375401.3_Silent_p.A1264A|KDM5C_ENST00000404049.3_Silent_p.A1263A|KDM5C_ENST00000375383.3_Silent_p.A1223A	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1264					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTCTCTGCAGGGCTACCAGCA	0.667000			"""N, F, S"""		clear cell renal carcinoma								9	12					0	0	0.008291	0	0
HERC3	8916	broad.mit.edu	37	4	89588561	89588561	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:89588561C>T	ENST00000402738.1	+	13	1604	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Silent_p.I455I	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	455					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTCCCAAAATCCCTGGGATTG	0.313000													13	26					0	0	0.004007	0	0
SRCAP	10847	broad.mit.edu	37	16	30749824	30749824	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:30749824C>T	ENST00000262518.4	+	34	8848	c.8463C>T	c.(8461-8463)ccC>ccT	p.P2821P	SRCAP_ENST00000395059.2_Silent_p.P2759P|SRCAP_ENST00000344771.4_Silent_p.P2663P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2821	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACTCCACCCCAGCAGCCCT	0.642000													25	53					0	0	0.004656	0	0
COL6A2	1292	broad.mit.edu	37	21	47545524	47545524	+	Silent	SNP	C	C	T	rs150253422	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47545524C>T	ENST00000300527.4	+	25	2066	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	COL6A2_ENST00000310645.5_Silent_p.S654S|COL6A2_ENST00000409416.1_Silent_p.S654S|COL6A2_ENST00000357838.4_Silent_p.S654S|COL6A2_ENST00000397763.1_Silent_p.S654S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	654	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCCAAGTCCGAGACAGGTC	0.632000													4	23					0	0	0.009096	0	0
CDH9	1007	broad.mit.edu	37	5	26915882	26915882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:26915882G>A	ENST00000231021.4	-	3	551	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	127	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTGGCACGAAGAATGTAC	0.393000													35	73					0	0	0.004878	0	0
TET1	80312	broad.mit.edu	37	10	70451265	70451265	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:70451265C>T	ENST00000373644.4	+	12	6314	c.6105C>T	c.(6103-6105)caC>caT	p.H2035H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2035					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGTTGAGCACCCCAACCGTA	0.502000													23	42					0	0	0.014323	0	0
MID2	11043	broad.mit.edu	37	X	107170226	107170226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107170226G>A	ENST00000262843.6	+	10	2679	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.D681N	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	711						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGATTTTATTGATTACCCTGA	0.418000													9	56					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228462473	228462473	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:228462473C>G	ENST00000570156.2	+	24	7083	c.7009C>G	c.(7009-7011)Ctg>Gtg	p.L2337V	OBSCN_ENST00000359599.6_Missense_Mutation_p.L809V|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1962V|OBSCN_ENST00000284548.11_Missense_Mutation_p.L1962V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1322	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCTGGTGCTGGAGGACGC	0.647000													4	10					0	0	0.000602	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883720	51883720	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:51883720G>A	ENST00000453097.2	+	19	2902	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.M922I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	895					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAGTCTTCATGACGGCTATCT	0.493000													10	72					0	0	0.006214	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568302	45568302	+	RNA	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:45568302G>A	ENST00000256692.5	-	0	383					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTCCCCGGGGATTATCAGGT	0.498000													9	46					0	0	0.006214	0	0
LOC440040	440040	broad.mit.edu	37	11	49831711	49831711	+	RNA	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:49831711A>G	ENST00000527477.1	+	0	1936																											GTTGATGTTAATCAAAGCTCC	0.448000													4	146					0	0	0.001168	0	0
SF3B3	23450	broad.mit.edu	37	16	70601421	70601421	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:70601421C>T	ENST00000302516.5	+	21	3145	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	978					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.L978L(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGAAGTTACTCCGAAAATGTG	0.517000													15	51					0	0	0.004007	0	0
MYF5	4617	broad.mit.edu	37	12	81110911	81110911	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:81110911C>T	ENST00000228644.3	+	1	221	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCATACCGTCCCCCGAGGGTG	0.617000													8	34					0	0	0.006214	0	0
DENND4B	9909	broad.mit.edu	37	1	153909095	153909095	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:153909095A>G	ENST00000361217.4	-	16	2780	c.2362T>C	c.(2362-2364)Tcc>Ccc	p.S788P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	788										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCACTCGGGAGGGTGCCGAC	0.627000													4	36					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179455759	179455759	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:179455759C>T	ENST00000589042.1	-	304	60917	c.60693G>A	c.(60691-60693)ctG>ctA	p.L20231L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L18590L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L17663L|TTN_ENST00000359218.5_Silent_p.L11291L|TTN_ENST00000460472.2_Silent_p.L11166L|TTN_ENST00000342175.6_Silent_p.L11358L|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18590	Ig-like 111.						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)			GTGGGATTTTCAGCTTTGTCT	0.443000													52	141					0	0	0.014410	0	0
PI16	221476	broad.mit.edu	37	6	36929690	36929690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:36929690C>T	ENST00000373674.3	+	4	860	c.532C>T	c.(532-534)Cag>Tag	p.Q178*		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	178						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGGCCCTACCAGGAGGGGAC	0.637000													12	72					0	0	0.010729	0	0
CNTN6	27255	broad.mit.edu	37	3	1418728	1418728	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:1418728G>A	ENST00000446702.2	+	17	2762	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G640E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G712E			Q9UQ52	CNTN6_HUMAN	contactin 6	712	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAGGTGGAGGAAGTCGGTCT	0.403000													31	60					0	0	0.004289	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890082	23890082	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:23890082G>A	ENST00000532292.1	-	1	1093	c.999C>T	c.(997-999)caC>caT	p.H333H		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGGTGTTTGGGTGCTCCCAGT	0.627000													5	64					0	0	0.004482	0	0
FAM171B	165215	broad.mit.edu	37	2	187626379	187626379	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:187626379C>T	ENST00000304698.5	+	8	1513	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	437						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCATATAGTCCTCAGAAAAAG	0.348000													23	58					0	0	0.002780	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	46					0	0	0.000602	0	0
WDR88	126248	broad.mit.edu	37	19	33623254	33623254	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:33623254C>T	ENST00000361680.2	+	1	257	c.179C>T	c.(178-180)cCc>cTc	p.P60L	WDR88_ENST00000592765.1_Missense_Mutation_p.P60L|WDR88_ENST00000355868.3_Missense_Mutation_p.P60L			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	60										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCCTCGACCCCCTGGCCTTG	0.637000													24	150					0	0	0.003954	0	0
MYO18B	84700	broad.mit.edu	37	22	26164456	26164456	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:26164456G>A	ENST00000335473.7	+	4	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	MYO18B_ENST00000536101.1_Silent_p.K191K|MYO18B_ENST00000407587.2_Silent_p.K191K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	191						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGGAAAAGAAAGGGGAGA	0.617000													3	19					0	0	0.000602	0	0
KLHL24	54800	broad.mit.edu	37	3	183368286	183368286	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:183368286C>T	ENST00000454652.1	+	4	528	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	KLHL24_ENST00000476808.1_Missense_Mutation_p.H48Y|KLHL24_ENST00000242810.6_Missense_Mutation_p.H48Y			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	48						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGATCATCCCATGCCGAAAA	0.408000													29	50					0	0	0.003271	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011584	46011584	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:46011584C>T	ENST00000400368.1	-	1	802	c.782G>A	c.(781-783)tGc>tAc	p.C261Y	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	261	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGAGGAGGTGCAGCAAGCTGG	0.647000													39	131					0	0	0.009718	0	0
VWC2	375567	broad.mit.edu	37	7	49842382	49842382	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:49842382G>A	ENST00000340652.3	+	3	1328	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TCCCCAGACGGAGTGTGTGGA	0.567000													30	35					0	0	0.007291	0	0
GPR112	139378	broad.mit.edu	37	X	135445670	135445670	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:135445670G>A	ENST00000394143.1	+	13	7603	c.7312G>A	c.(7312-7314)Gaa>Aaa	p.E2438K	GPR112_ENST00000370652.1_Missense_Mutation_p.E2438K|GPR112_ENST00000287534.4_Missense_Mutation_p.E2236K|GPR112_ENST00000394141.1_Missense_Mutation_p.E2233K|GPR112_ENST00000412101.1_Missense_Mutation_p.E2233K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2438					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTCAGTGGGAAAAGCCAAA	0.373000													19	44					0	0	0.010504	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	29					0	0	0.003954	0	0
DBH	1621	broad.mit.edu	37	9	136516843	136516843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136516843G>A	ENST00000393056.2	+	7	1291	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	427					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCTGGTCCGGGACGGCCGGGA	0.652000													14	17					0	0	0.001855	0	0
OR6C4	341418	broad.mit.edu	37	12	55945365	55945365	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:55945365G>A	ENST00000394256.2	+	1	383	c.355G>A	c.(355-357)Gat>Aat	p.D119N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATGTCTTATGATCGTTATGT	0.443000													31	88					0	0	0.010818	0	0
CHST7	56548	broad.mit.edu	37	X	46433815	46433815	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:46433815A>T	ENST00000276055.3	+	1	597	c.449A>T	c.(448-450)cAg>cTg	p.Q150L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	150					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GAGAGCTTGCAGGGCGCGCTG	0.672000													26	55					0	0	0.008361	0	0
NWD1	284434	broad.mit.edu	37	19	16899852	16899852	+	Missense_Mutation	SNP	G	G	A	rs140602425		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:16899852G>A	ENST00000524140.2	+	13	3209	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	NWD1_ENST00000339803.6_Missense_Mutation_p.D796N|NWD1_ENST00000549814.1_Missense_Mutation_p.D931N|NWD1_ENST00000379808.3_Missense_Mutation_p.D931N|NWD1_ENST00000552788.1_Missense_Mutation_p.D931N|NWD1_ENST00000523826.1_Missense_Mutation_p.D725N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	931							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTTCAAAGGATTACACGCT	0.498000													18	70					0	0	0.007413	0	0
BMP3	651	broad.mit.edu	37	4	81974564	81974564	+	Silent	SNP	G	G	A	rs146470758	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:81974564G>A	ENST00000282701.2	+	3	1613	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	431					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCGTTCCTGGGATTCCTGAGC	0.388000													31	91					0	0	0.013726	0	0
TMED4	222068	broad.mit.edu	37	7	44620740	44620740	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:44620740C>G	ENST00000457408.2	-	4	538	c.486G>C	c.(484-486)caG>caC	p.Q162H	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.Q162H	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	162					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GATCAAGCAACTGGCGGGCGC	0.517000													9	39					0	0	0.013537	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504188	110504188	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:110504188G>A	ENST00000378402.5	+	62	10305	c.10201G>A	c.(10201-10203)Gat>Aat	p.D3401N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3401					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAACAGAAAAGATTTAAGTTC	0.338000										HNSCC(38;0.096)			4	8					0	0	0.009096	0	0
RGS7	6000	broad.mit.edu	37	1	241031915	241031915	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:241031915C>T	ENST00000366565.1	-	9	962	c.581G>A	c.(580-582)aGa>aAa	p.R194K	RGS7_ENST00000366564.1_Missense_Mutation_p.R194K|RGS7_ENST00000366562.4_Missense_Mutation_p.R194K|RGS7_ENST00000407727.1_Missense_Mutation_p.R194K|RGS7_ENST00000331110.7_Missense_Mutation_p.R168K|RGS7_ENST00000366563.1_Missense_Mutation_p.R194K|RGS7_ENST00000401882.1_Missense_Mutation_p.R141K|RGS7_ENST00000446183.2_Missense_Mutation_p.R110K|RGS7_ENST00000348120.2_Missense_Mutation_p.R141K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	194					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCAGAACGCTCTCTCTTGGCT	0.483000													11	54					0	0	0.010729	0	0
MYF6	4618	broad.mit.edu	37	12	81101508	81101508	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:81101508G>A	ENST00000228641.3	+	1	232	c.10G>A	c.(10-12)Gac>Aac	p.D4N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	4					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CATGATGATGGACCTTTTTGA	0.468000													15	80					0	0	0.004007	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381082	19381082	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:19381082C>T	ENST00000389363.4	-	4	373	c.301G>A	c.(301-303)Gag>Aag	p.E101K	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	101						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGGTATGGCTCTCCCTGTGGG	0.622000													15	46					0	0	0.004990	0	0
KCND1	3750	broad.mit.edu	37	X	48823417	48823417	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:48823417G>A	ENST00000218176.3	-	2	2515	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCND1_ENST00000376477.1_Silent_p.V29V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	406				V -> I (in Ref. 2; BAA96454).		voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGACACAATGACTGGCACAG	0.577000													21	30					0	0	0.010504	0	0
GATM	2628	broad.mit.edu	37	15	45660395	45660395	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:45660395G>A	ENST00000396659.3	-	4	887	c.548C>T	c.(547-549)cCc>cTc	p.P183L	GATM_ENST00000558336.1_Missense_Mutation_p.P183L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	183					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCATGCCATGGGAGCCTCGAT	0.483000													8	37					0	0	0.003080	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116000	129116000	+	RNA	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:129116000A>G	ENST00000514355.1	-	0	412																				lung(1)	1						GGGAAGAAGTAGCCCCAGGTG	0.542000													4	150					0	0	0.003080	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278210	47278210	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47278210A>C	ENST00000271153.4	+	4	446	c.410A>C	c.(409-411)cAc>cCc	p.H137P	CYP4B1_ENST00000371919.4_Missense_Mutation_p.H122P|CYP4B1_ENST00000371923.4_Missense_Mutation_p.H137P|CYP4B1_ENST00000452782.2_5'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	137					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGTTGCAGCACCGCAAGCTG	0.602000													8	37					0	0	0.003080	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602407	47602407	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:47602407A>T	ENST00000534716.2	+	4	270	c.252A>T	c.(250-252)ttA>ttT	p.L84F	NDUFS3_ENST00000528192.1_Missense_Mutation_p.L84F|NDUFS3_ENST00000263774.4_Missense_Mutation_p.L84F|NDUFS3_ENST00000534208.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	84					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	TCAATGAGTTAGAGGTCTGTA	0.498000													35	116					0	0	0.006230	0	0
TRAV6	6956	broad.mit.edu	37	14	22237049	22237049	+	RNA	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22237049G>A	ENST00000390428.3	+	0	133																											AGAGCCAAAAGATAGAACAGA	0.478000													11	22					0	0	0.010729	0	0
TADA2A	6871	broad.mit.edu	37	17	35825629	35825629	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:35825629C>T	ENST00000394395.2	+	11	980	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TADA2A_ENST00000417170.1_Silent_p.F269F|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.F269F|TADA2A_ENST00000225396.6_Silent_p.F269F	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	269					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATGACAAATTCATTGAAAGCC	0.413000													18	49					0	0	0.008871	0	0
ENC1	8507	broad.mit.edu	37	5	73931057	73931057	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:73931057G>A	ENST00000302351.4	-	2	2384	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	ENC1_ENST00000537006.1_Silent_p.D418D|ENC1_ENST00000510316.1_Silent_p.D345D	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	418					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATTGTGGGGTCATAATGTT	0.547000													39	88					0	0	0.010771	0	0
TAL2	6887	broad.mit.edu	37	9	108424991	108424991	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:108424991G>A	ENST00000334077.3	+	1	254	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										GGCTGCTCAGGGGAACATTCT	0.547000			T	TRB@	T-ALL								18	36					0	0	0.010504	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126161	62126161	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:62126161G>A	ENST00000217182.3	-	4	783	c.618C>T	c.(616-618)ccC>ccT	p.P206P	EEF1A2_ENST00000298049.7_Silent_p.P206P	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	206						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACTCACGTTGGGGGAGGGCT	0.692000													4	29					0	0	0.000602	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670745	94670745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:94670745G>A	ENST00000260526.6	-	7	751	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S190F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	190					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTAAAGGGGAAAAATTTCC	0.338000													4	15					0	0	0.009096	0	0
ASPG	374569	broad.mit.edu	37	14	104571026	104571026	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:104571026C>T	ENST00000551177.1	+	9	1096	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	ASPG_ENST00000455920.2_Missense_Mutation_p.S335L|ASPG_ENST00000546892.2_Missense_Mutation_p.S335L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	335	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.S363L(1)|p.S335L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCAAGCTATCGTATGTGCTG	0.662000													9	25					0	0	0.006214	0	0
ALS2	57679	broad.mit.edu	37	2	202571691	202571691	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:202571691G>A	ENST00000264276.6	-	29	4830	c.4458C>T	c.(4456-4458)taC>taT	p.Y1486Y	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1486					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGCGGTGGGTAGAGCCGAG	0.413000													12	30					0	0	0.001855	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750496	41750496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:41750496A>T	ENST00000226382.2	-	1	491	c.132T>A	c.(130-132)taT>taA	p.Y44*	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	44					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TTATCGGGTTATACTGGAAGC	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	126					0	0	0.001168	0	0
SASS6	163786	broad.mit.edu	37	1	100550937	100550937	+	Missense_Mutation	SNP	C	C	T	rs148677150	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:100550937C>T	ENST00000287482.5	-	17	2061	c.1921G>A	c.(1921-1923)Gcg>Acg	p.A641T	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.A474T	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	641					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GAGGGGAGCGCTGTGGGTTTG	0.403000													47	106					0	0	0.014410	0	0
NPHS1	4868	broad.mit.edu	37	19	36321786	36321786	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:36321786G>A	ENST00000378910.5	-	28	3553	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	NPHS1_ENST00000353632.6_Missense_Mutation_p.P1145L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1185	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.S1186fs*10(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCCAGACGGGGGGTACGT	0.542000													29	152					0	0	0.010818	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518327	41518327	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:41518327C>T	ENST00000324071.4	+	7	1096	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP2B6_ENST00000330446.5_Silent_p.L163L|CYP2B6_ENST00000593831.1_Silent_p.L127L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	363					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCGACCTTCTCCCCATGGGTG	0.547000													14	66					0	0	0.002450	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:41962602G>C	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													5	57					0	0	0.000602	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392580	22392580	+	RNA	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22392580G>A	ENST00000390440.2	+	0	178																											GTTCGTGCAGGAAAAGGAGGC	0.428000													14	38					0	0	0.001855	0	0
TRIM55	84675	broad.mit.edu	37	8	67066388	67066388	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:67066388G>A	ENST00000315962.4	+	9	1716	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.G448D	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	448						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGTATAAAGGCCAAACCCGG	0.552000													16	44					0	0	0.004007	0	0
TMEM156	80008	broad.mit.edu	37	4	38995373	38995373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:38995373C>T	ENST00000381938.3	-	3	711	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	202						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATATCCATCTCTAGGTGCAAA	0.333000													12	38					0	0	0.010729	0	0
DBH	1621	broad.mit.edu	37	9	136516842	136516842	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136516842G>A	ENST00000393056.2	+	7	1290	c.1278G>A	c.(1276-1278)cgG>cgA	p.R426R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	426					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGCTGGTCCGGGACGGCCGGG	0.652000													14	17					0	0	0.001855	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	112					0	0	0.009096	0	0
MAPK4	5596	broad.mit.edu	37	18	48248339	48248339	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:48248339C>T	ENST00000400384.2	+	4	1759	c.723C>T	c.(721-723)atC>atT	p.I241I	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I30I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	241	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCAACTCATCCTGGAGACCA	0.582000													6	11					0	0	0.001168	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174681	140174681	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140174681C>T	ENST00000526136.1	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA2_ENST00000520672.2_Silent_p.F44F|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.F44F	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.687000													19	65					0	0	0.008871	0	0
SCRIB	23513	broad.mit.edu	37	8	144890932	144890932	+	Silent	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:144890932A>C	ENST00000356994.2	-	15	1968	c.1962T>G	c.(1960-1962)gcT>gcG	p.A654A	SCRIB_ENST00000377533.3_Silent_p.A573A|SCRIB_ENST00000320476.3_Silent_p.A654A	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	654	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCCGAGGAGCCCAGGGTG	0.667000													17	39					0	0	0.004007	0	0
SPO11	23626	broad.mit.edu	37	20	55913332	55913332	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:55913332G>A	ENST00000371263.3	+	9	854	c.744_splice	c.e9-1	p.G249_splice	SPO11_ENST00000371260.4_Splice_Site_p.G207_splice|SPO11_ENST00000345868.4_Splice_Site_p.G211_splice	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	249					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTCCTTTTAGGGAAAGGGAGT	0.338000								Editing and processing nucleases					13	21					0	0	0.001855	0	0
VASH2	79805	broad.mit.edu	37	1	213146088	213146088	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:213146088T>G	ENST00000366968.4	+	7	819	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V	VASH2_ENST00000366964.3_Missense_Mutation_p.F80V|VASH2_ENST00000517399.1_Missense_Mutation_p.F222V|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.F178V|VASH2_ENST00000366967.2_Missense_Mutation_p.F118V|VASH2_ENST00000366966.2_Missense_Mutation_p.F157V	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	222					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCCATTGACTTTTCGGACTCT	0.498000													10	30					0	0	0.008291	0	0
SFTPB	6439	broad.mit.edu	37	2	85892783	85892783	+	Silent	SNP	G	G	A	rs147209702		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:85892783G>A	ENST00000342375.3	-	6	663	c.528C>T	c.(526-528)ctC>ctT	p.L176L	SFTPB_ENST00000409383.1_Silent_p.L188L|SFTPB_ENST00000393822.3_Silent_p.L188L|SFTPB_ENST00000519937.2_Silent_p.L176L	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	176			L -> F (in dbSNP:rs3024801).		organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGGGAGGACGAGCTTGTCCA	0.667000													13	49					0	0	0.001855	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064897	63064897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:63064897C>T	ENST00000544661.1	+	4	592	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.S210F			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	210						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTTTTCTTCCATGATCATT	0.398000													30	46					0	0	0.009535	0	0
COL11A2	1302	broad.mit.edu	37	6	33136775	33136775	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:33136775C>G	ENST00000341947.2	-	52	4036	c.3809G>C	c.(3808-3810)gGt>gCt	p.G1270A	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1163A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1189A|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1249A|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1184A|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1244A|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1223A|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1210A	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1270	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGAAAACCAACAGGACC	0.602000													13	60					0	0	0.002450	0	0
NDNF	79625	broad.mit.edu	37	4	121957792	121957792	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:121957792G>A	ENST00000379692.4	-	4	1860	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGGAAGAGAGGGAAATGACTG	0.448000													15	112					0	0	0.006122	0	0
ANAPC1	64682	broad.mit.edu	37	2	112605420	112605420	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:112605420G>A	ENST00000341068.3	-	15	2445	c.1673C>T	c.(1672-1674)cCa>cTa	p.P558L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	558					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTCAGTTCTGGAACTGGGGA	0.343000													22	43					0	0	0.002780	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909750	92909750	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:92909750C>T	ENST00000532405.1	+	7	815	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180C|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197C|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180C|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133C			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGTGGTCCGTCTGACGTG	0.657000													9	50					0	0	0.008291	0	0
DSCAM	1826	broad.mit.edu	37	21	41719724	41719724	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:41719724C>T	ENST00000400454.1	-	6	1560	c.1083G>A	c.(1081-1083)agG>agA	p.R361R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	361	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCCTGTGATCCTCACATTTT	0.512000													33	242					0	0	0.004289	0	0
MYO1H	283446	broad.mit.edu	37	12	109844617	109844617	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:109844617C>T	ENST00000310903.5	+	9	1045	c.939C>T	c.(937-939)gtC>gtT	p.V313V	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.V313V			B4DNW6	B4DNW6_HUMAN	myosin IH	61						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACCCATCAGTCCTTCTGGAAG	0.453000													22	76					0	0	0.003954	0	0
AIM1	202	broad.mit.edu	37	6	107008779	107008779	+	Missense_Mutation	SNP	G	G	A	rs144319815		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:107008779G>A	ENST00000369066.3	+	17	5220	c.4733G>A	c.(4732-4734)gGt>gAt	p.G1578D	AIM1_ENST00000535438.1_Missense_Mutation_p.G397D	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1578	Beta/gamma crystallin 'Greek key' 12.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CGCCAAATAGGTTCTCTACGA	0.398000													31	85					0	0	0.004289	0	0
MYH11	4629	broad.mit.edu	37	16	15851732	15851732	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:15851732G>C	ENST00000338282.6	-	13	1633	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	MYH11_ENST00000300036.5_Missense_Mutation_p.I509M|MYH11_ENST00000576790.1_Missense_Mutation_p.I509M|MYH11_ENST00000396324.3_Missense_Mutation_p.I516M|MYH11_ENST00000452625.2_Missense_Mutation_p.I516M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	509	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCAAAGTCGATGAAGTTCC	0.597000			T	CBFB	AML								15	52					0	0	0.003163	0	0
GAD2	2572	broad.mit.edu	37	10	26589769	26589769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:26589769G>A	ENST00000376261.3	+	16	2140	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	GAD2_ENST00000259271.3_Missense_Mutation_p.S546N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	546					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACAATGGTCAGCTACCAACCC	0.483000													33	50					0	0	0.004289	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403714	204403714	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:204403714G>A	ENST00000367187.3	-	25	4095	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1152F|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1180	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCAGCGCAGGAGTAGATAAA	0.547000													5	23					0	0	0.001984	0	0
USP54	159195	broad.mit.edu	37	10	75286500	75286500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:75286500G>A	ENST00000339859.4	-	15	2199	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	USP54_ENST00000408019.1_Missense_Mutation_p.S700F|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S550F|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	700					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGACGCCAGGAAGGAACCAA	0.493000													14	34					0	0	0.002450	0	0
CRY2	1408	broad.mit.edu	37	11	45891260	45891260	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:45891260C>T	ENST00000443527.2	+	7	1171	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	CRY2_ENST00000417225.2_Silent_p.I301I	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	362	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TTGATGCCATCATGACCCAAC	0.652000													20	88					0	0	0.012319	0	0
TAPBP	6892	broad.mit.edu	37	6	33272288	33272288	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:33272288G>A	ENST00000434618.2	-	5	1341	c.996C>T	c.(994-996)ctC>ctT	p.L332L	TAPBP_ENST00000489157.1_Silent_p.L245L|TAPBP_ENST00000456592.2_Silent_p.L332L|TAPBP_ENST00000426633.2_Silent_p.L332L|TAPBP_ENST00000475304.1_Silent_p.L350L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	332	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GGCCACCCCGGAGTTCCCACT	0.687000													13	36					0	0	0.002450	0	0
ZNF407	55628	broad.mit.edu	37	18	72344446	72344446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:72344446G>A	ENST00000299687.5	+	1	1471	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	ZNF407_ENST00000309902.6_Missense_Mutation_p.V491M|ZNF407_ENST00000582337.1_Missense_Mutation_p.V491M|ZNF407_ENST00000577538.1_Missense_Mutation_p.V491M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGTGTGTGTGACTACCTC	0.552000													12	57					0	0	0.013537	0	0
ATG9A	79065	broad.mit.edu	37	2	220087022	220087022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:220087022G>A	ENST00000409618.1	-	12	2438	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	ATG9A_ENST00000409422.1_Missense_Mutation_p.R606W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R667W|ATG9A_ENST00000396761.2_Missense_Mutation_p.R667W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	667					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGAGCCCGGCCTGTGGGC	0.657000													28	106					0	0	0.009535	0	0
CLDN16	10686	broad.mit.edu	37	3	190122712	190122712	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:190122712G>C	ENST00000264734.2	+	3	837	c.589G>C	c.(589-591)Gca>Cca	p.A197P	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	197					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTTACTAATAGCAGGTACCGG	0.517000													9	39					0	0	0.006214	0	0
PRX	57716	broad.mit.edu	37	19	40901365	40901365	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:40901365G>A	ENST00000324001.7	-	7	3164	c.2894C>T	c.(2893-2895)tCa>tTa	p.S965L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	965					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGGAGTGAGATGGCAAA	0.622000													66	90					0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129903852	129903852	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:129903852C>G	ENST00000368654.3	-	13	6627	c.6252G>C	c.(6250-6252)caG>caC	p.Q2084H	MKI67_ENST00000368653.3_Missense_Mutation_p.Q1724H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2084	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCTGGTGTCTGGAAGAGCT	0.488000													66	156					0	0	0.014410	0	0
RADIL	55698	broad.mit.edu	37	7	4874770	4874770	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:4874770G>C	ENST00000399583.3	-	4	1071	c.884C>G	c.(883-885)cCt>cGt	p.P295R	RADIL_ENST00000538469.1_Missense_Mutation_p.P55R|RADIL_ENST00000536091.1_Missense_Mutation_p.P295R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	295					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)		GCAGTGTAGAGGCAGGATGTC	0.701000													3	13					0	0	0.004672	0	0
PCDH9	5101	broad.mit.edu	37	13	67799671	67799671	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:67799671G>A	ENST00000544246.1	-	2	3593	c.2902C>T	c.(2902-2904)Cct>Tct	p.P968S	PCDH9_ENST00000456367.1_Missense_Mutation_p.P968S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P968S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P968S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P968S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	968					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGTCCAAAGGGAGTTCCTGA	0.498000													26	57					0	0	0.008361	0	0
TM2D3	80213	broad.mit.edu	37	15	102192496	102192496	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:102192496C>G	ENST00000333202.3	-	1	74	c.69G>C	c.(67-69)caG>caC	p.Q23H	TM2D3_ENST00000428002.2_Missense_Mutation_p.Q23H|TM2D3_ENST00000559107.1_Missense_Mutation_p.Q23H|TM2D3_ENST00000347970.3_Missense_Mutation_p.Q23H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	23						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAATGCAGAACTGCGAGAGGA	0.721000													8	36					0	0	0.004482	0	0
BTBD16	118663	broad.mit.edu	37	10	124034599	124034599	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:124034599G>A	ENST00000368994.2	+	2	254	c.3G>A	c.(1-3)atG>atA	p.M1I	BTBD16_ENST00000260723.4_Start_Codon_SNP_p.M1I			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	1										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTTCATTCATGATAATGTCGA	0.378000													14	49					0	0	0.006122	0	0
OR52J3	119679	broad.mit.edu	37	11	5068287	5068287	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:5068287C>A	ENST00000380370.1	+	1	532	c.532C>A	c.(532-534)Cat>Aat	p.H178N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAATAGCCCATTCCTACTG	0.418000													25	70					3.6726e-16	4.85061e-16	0.003954	1	0
ZNF462	58499	broad.mit.edu	37	9	109688887	109688887	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:109688887C>T	ENST00000277225.5	+	3	2983	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	ZNF462_ENST00000457913.1_Silent_p.F898F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	898					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACCAACTTCGAAGATCTCC	0.468000													24	59					0	0	0.002780	0	0
SLC35B4	84912	broad.mit.edu	37	7	133981163	133981163	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:133981163G>A	ENST00000378509.4	-	9	1028	c.729C>T	c.(727-729)ctC>ctT	p.L243L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	243						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TGTTCATGAGGAGGTAGAACC	0.438000													18	16					0	0	0.010504	0	0
MXRA5	25878	broad.mit.edu	37	X	3240439	3240439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:3240439G>A	ENST00000217939.6	-	5	3441	c.3287C>T	c.(3286-3288)cCt>cTt	p.P1096L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1096						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTGGAGTCAGGCAAAGTGAT	0.493000													9	79					0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152652612	152652612	+	Missense_Mutation	SNP	G	G	A	rs139490297		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:152652612G>A	ENST00000367255.5	-	78	13809	c.13208C>T	c.(13207-13209)tCg>tTg	p.S4403L	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4332L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4268L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4403L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4332L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4403					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S4403L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTATAAGCGATTTCAGGAG	0.522000										HNSCC(10;0.0054)			15	31					0	0	0.002450	0	0
SARDH	1757	broad.mit.edu	37	9	136594959	136594959	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136594959C>T	ENST00000371872.4	-	6	1100	c.843G>A	c.(841-843)atG>atA	p.M281I	SARDH_ENST00000439388.1_Missense_Mutation_p.M281I|SARDH_ENST00000422262.2_Missense_Mutation_p.M113I|SARDH_ENST00000371867.1_Missense_Mutation_p.M192I|SARDH_ENST00000298628.5_Missense_Mutation_p.M281I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	281					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGACTCCAGCCATCCGGCCCA	0.637000													9	54					0	0	0.004482	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805780	20805780	+	RNA	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:20805780C>T	ENST00000577537.1	+	0	964				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							TGCTGGCTTTCGTCTCTGATT	0.537000													6	20					0	0	0.001168	0	0
COL6A2	1292	broad.mit.edu	37	21	47552187	47552187	+	Silent	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47552187C>G	ENST00000300527.4	+	28	2885	c.2781C>G	c.(2779-2781)gcC>gcG	p.A927A		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	927	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCATCAATGCCATCGTGCGCA	0.662000													4	14					0	0	0.001984	0	0
STAU2	27067	broad.mit.edu	37	8	74650519	74650519	+	Splice_Site	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:74650519C>G	ENST00000355780.5	-	3	236	c.18_splice	c.e3+1	p.Q6_splice	STAU2_ENST00000522695.1_Splice_Site_p.Q6_splice|STAU2_ENST00000524300.1_5'UTR|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521419.1_5'UTR|STAU2_ENST00000519961.1_5'UTR|STAU2_ENST00000524104.1_Splice_Site_p.Q6_splice|STAU2_ENST00000522509.1_Splice_Site_p.Q6_splice|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521210.1_5'UTR	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	38					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ACAAACTCACCTGATTTATTT	0.348000													8	30					0	0	0.003080	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711955	121711955	+	Silent	SNP	G	G	A	rs146945076		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:121711955G>A	ENST00000324774.5	-	2	1203	c.375C>T	c.(373-375)tcC>tcT	p.S125S	CAMKK2_ENST00000347034.2_Silent_p.S125S|CAMKK2_ENST00000412367.2_Silent_p.S125S|CAMKK2_ENST00000402834.4_Silent_p.S125S|CAMKK2_ENST00000337174.3_Silent_p.S125S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000538733.1_Silent_p.S125S|CAMKK2_ENST00000392473.2_Silent_p.S125S|CAMKK2_ENST00000446440.2_Silent_p.S125S|CAMKK2_ENST00000404169.3_Silent_p.S125S|CAMKK2_ENST00000392474.2_Silent_p.S125S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	125					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTAGGGCAGGGACGGGCAGA	0.687000													64	180					0	0	0.014410	0	0
APOL1	8542	broad.mit.edu	37	22	36661727	36661727	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:36661727A>C	ENST00000319136.4	+	7	1160	c.893A>C	c.(892-894)gAc>gCc	p.D298A	APOL1_ENST00000397278.3_Missense_Mutation_p.D282A|APOL1_ENST00000422706.1_Missense_Mutation_p.D282A|APOL1_ENST00000397279.4_Missense_Mutation_p.D282A|APOL1_ENST00000426053.1_Missense_Mutation_p.D264A|APOL1_ENST00000347595.7_Missense_Mutation_p.D161A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	282					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATTGGGAAGGACATCCGTGCC	0.527000													18	85					0	0	0.007413	0	0
RARA	5914	broad.mit.edu	37	17	38508593	38508593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:38508593C>T	ENST00000254066.5	+	6	1096	c.641C>T	c.(640-642)tCa>tTa	p.S214L	RARA_ENST00000425707.3_Missense_Mutation_p.S117L|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.S209L|RARA_ENST00000394089.2_Missense_Mutation_p.S214L|RARA_ENST00000394086.3_Missense_Mutation_p.S230L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	214	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AACAACAGCTCAGAACAACGT	0.582000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								30	58					0	0	0.008361	0	0
GPR113	165082	broad.mit.edu	37	2	26533824	26533824	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:26533824C>T	ENST00000333478.6	-	8	2757	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G	GPR113_ENST00000421160.2_Silent_p.G855G|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.G527G|GPR113_ENST00000311519.1_Silent_p.G924G	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	924	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATAACGCCCCTCCCTTCC	0.597000													8	20					0	0	0.006214	0	0
PCSK2	5126	broad.mit.edu	37	20	17434472	17434472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:17434472C>T	ENST00000262545.2	+	9	1286	c.971C>T	c.(970-972)tCc>tTc	p.S324F	PCSK2_ENST00000377899.1_Missense_Mutation_p.S305F|PCSK2_ENST00000536609.1_Missense_Mutation_p.S289F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	324	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTACGCCTCCAGCATGTGG	0.637000													22	46					0	0	0.012319	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647745	51647745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:51647745G>A	ENST00000317643.6	+	2	585	c.516G>A	c.(514-516)tgG>tgA	p.W172*	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	172	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGTGCCCTGGGCCTGTGAGC	0.637000													43	108					0	0	0.014410	0	0
KLF14	136259	broad.mit.edu	37	7	130418269	130418269	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:130418269G>A	ENST00000310992.4	-	1	619	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCCGGGAAGGGGCATTGGTGG	0.682000													194	272					0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9316319	9316319	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:9316319A>G	ENST00000261336.2	-	21	2709	c.2681T>C	c.(2680-2682)gTt>gCt	p.V894A	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGACCTCAACAACCTCATT	0.408000													16	52					0	0	0.004007	0	0
FAM13B	51306	broad.mit.edu	37	5	137354780	137354780	+	Silent	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:137354780A>C	ENST00000033079.3	-	3	472	c.21T>G	c.(19-21)ccT>ccG	p.P7P	FAM13B_ENST00000420893.2_Silent_p.P7P|FAM13B_ENST00000425075.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	7					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TACTCAAGGAAGGGGAGGAGC	0.403000													17	43					0	0	0.007413	0	0
PLEC	5339	broad.mit.edu	37	8	144997325	144997325	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:144997325C>G	ENST00000322810.4	-	31	7352	c.7183G>C	c.(7183-7185)Gac>Cac	p.D2395H	PLEC_ENST00000357649.2_Missense_Mutation_p.D2262H|PLEC_ENST00000345136.3_Missense_Mutation_p.D2258H|PLEC_ENST00000436759.2_Missense_Mutation_p.D2285H|PLEC_ENST00000356346.3_Missense_Mutation_p.D2244H|PLEC_ENST00000354958.2_Missense_Mutation_p.D2236H|PLEC_ENST00000398774.2_Missense_Mutation_p.D2226H|PLEC_ENST00000354589.3_Missense_Mutation_p.D2258H|PLEC_ENST00000527096.1_Missense_Mutation_p.D2281H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2395	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						TTGTCCTTGTCACGCAAGATG	0.637000													7	33					0	0	0.001984	0	0
RERE	473	broad.mit.edu	37	1	8418476	8418476	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:8418476G>A	ENST00000337907.3	-	21	4753	c.4119C>T	c.(4117-4119)ccC>ccT	p.P1373P	RERE_ENST00000476556.1_Silent_p.P819P|RERE_ENST00000377464.1_Silent_p.P1105P|RERE_ENST00000400908.2_Silent_p.P1373P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1373					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCTCTCCAAGGGGTTCAGGC	0.692000													6	20					0	0	0.001168	0	0
SEC16B	89866	broad.mit.edu	37	1	177930028	177930028	+	Silent	SNP	A	A	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:177930028A>C	ENST00000308284.6	-	7	923	c.834T>G	c.(832-834)ccT>ccG	p.P278P	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Silent_p.P278P|SEC16B_ENST00000464631.1_Silent_p.P279P	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	278					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGGAACATGAGGGATGTAGA	0.527000													10	34					0	0	0.008291	0	0
RALYL	138046	broad.mit.edu	37	8	85441712	85441712	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:85441712C>T	ENST00000521268.1	+	2	1261	c.156C>T	c.(154-156)tcC>tcT	p.S52S	RALYL_ENST00000517638.1_Silent_p.S65S|RALYL_ENST00000521695.1_Silent_p.S52S|RALYL_ENST00000518566.1_Silent_p.S52S|RALYL_ENST00000522455.1_Silent_p.S52S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	52	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGGATGTTCCGTTCACAAAG	0.433000													12	30					0	0	0.001855	0	0
COL12A1	1303	broad.mit.edu	37	6	75814981	75814981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:75814981G>A	ENST00000322507.8	-	54	8515	c.8206C>T	c.(8206-8208)Cca>Tca	p.P2736S	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2660S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2736S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1572S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2736	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAGAATTTGGAAAAGCAGGG	0.413000													6	22					0	0	0.001984	0	0
EFCAB7	84455	broad.mit.edu	37	1	63998342	63998342	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:63998342G>A	ENST00000371088.4	+	4	647	c.399_splice	c.e4-1	p.R134_splice		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	134	EF-hand 1.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTTTTTCAGAGAGGTGAGAAG	0.338000													4	47					0	0	0.009096	0	0
FRMD7	90167	broad.mit.edu	37	X	131212601	131212601	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:131212601G>A	ENST00000298542.4	-	12	1619	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	FRMD7_ENST00000370879.1_Missense_Mutation_p.P362S|FRMD7_ENST00000464296.1_Missense_Mutation_p.P467S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	482					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTACAAGGAATATAGGGC	0.478000													49	121					0	0	0.014410	0	0
HSD17B10	3028	broad.mit.edu	37	X	53458992	53458992	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:53458992C>T	ENST00000168216.6	-	4	457	c.430G>A	c.(430-432)Gga>Aga	p.G144R	HSD17B10_ENST00000375298.4_Missense_Mutation_p.G144R|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375304.5_Missense_Mutation_p.G144R	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	144					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CGTTGGCCTCCCTGGTCTGGT	0.547000													5	63					0	0	0.001984	0	0
MN1	4330	broad.mit.edu	37	22	28146960	28146960	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:28146960C>T	ENST00000302326.4	-	2	4860	c.3906G>A	c.(3904-3906)cgG>cgA	p.R1302R	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1302							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AATGCAGGGACCGCCAGGTGG	0.597000			T	ETV6	"""AML, meningioma"""								27	66					0	0	0.007291	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431786	140431786	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140431786G>A	ENST00000306549.3	+	1	808	c.731G>A	c.(730-732)cGa>cAa	p.R244Q		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		244	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTTCTCGCGACTGGTGTAC	0.597000													11	23					0	0	0.013537	0	0
FRYL	285527	broad.mit.edu	37	4	48517230	48517230	+	Silent	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:48517230T>G	ENST00000537810.1	-	56	8356	c.7752A>C	c.(7750-7752)atA>atC	p.I2584I	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.I2584I|FRYL_ENST00000358350.4_Silent_p.I2584I			O94915	FRYL_HUMAN	FRY-like	2584					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTTCTTGAATTATATAGGATC	0.368000													15	47					0	0	0.003163	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626761	140626761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140626761C>T	ENST00000231173.3	+	1	1615	c.1615C>T	c.(1615-1617)Ccg>Tcg	p.P539S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		539	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGGCTTCCCGGCGCTGAG	0.672000													18	54					0	0	0.004990	0	0
PGK2	5232	broad.mit.edu	37	6	49754123	49754123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:49754123C>T	ENST00000304801.3	-	1	930	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	260					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403000													22	82					0	0	0.012319	0	0
PDE4D	5144	broad.mit.edu	37	5	59064286	59064286	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:59064286T>A	ENST00000507116.1	-	1	185	c.50A>T	c.(49-51)aAt>aTt	p.N17I	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N17I|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	ACAATGCGGATTATCCACTTC	0.498000													47	131					0	0	0.014410	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:125261995C>T	ENST00000431078.1	+	8	1550	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTCCAGTTTCGAACATGGAA	0.552000													20	66					0	0	0.014323	0	0
DNAH7	56171	broad.mit.edu	37	2	196651805	196651805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:196651805G>A	ENST00000312428.6	-	58	10907	c.10807C>T	c.(10807-10809)Cct>Tct	p.P3603S	DNAH7_ENST00000409063.1_Missense_Mutation_p.P86S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3603	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACTCATAAGGAATATTCCAC	0.408000													21	49					0	0	0.012319	0	0
SAMSN1	64092	broad.mit.edu	37	21	15918571	15918571	+	Silent	SNP	T	T	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:15918571T>C	ENST00000400566.1	-	1	93	c.12A>G	c.(10-12)agA>agG	p.R4R	SAMSN1_ENST00000285670.2_Intron|SAMSN1_ENST00000400564.1_Silent_p.R4R	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	4					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGGATGGCTTTCTCTTGAGCA	0.348000													26	47					0	0	0.009535	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	42					0	0	0.004672	0	0
REG1B	5968	broad.mit.edu	37	2	79314027	79314027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:79314027G>A	ENST00000305089.3	-	3	174	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	32					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGATTCGGGGATTAGGCAGC	0.493000													37	95					0	0	0.006999	0	0
PTGER2	5732	broad.mit.edu	37	14	52781313	52781313	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:52781313G>C	ENST00000245457.5	+	1	201	c.47G>C	c.(46-48)cGa>cCa	p.R16P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	16						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCGAGACGCGACAGTGGCTT	0.652000													9	28					0	0	0.006214	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:133673737G>C	ENST00000519595.1	-	2	245	c.147C>G	c.(145-147)ctC>ctG	p.L49L	LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49						cytoplasm		p.L49L(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000													8	31					0	0	0.006214	0	0
C5	727	broad.mit.edu	37	9	123789470	123789470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:123789470C>T	ENST00000223642.1	-	8	870	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	281					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGCATCATTTCTTTTTGATCA	0.348000													3	15					0	0	0.004672	0	0
AASDH	132949	broad.mit.edu	37	4	57219614	57219614	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:57219614G>A	ENST00000205214.6	-	9	1712	c.1532C>T	c.(1531-1533)cCg>cTg	p.P511L	AASDH_ENST00000434343.2_Missense_Mutation_p.P26L|AASDH_ENST00000602986.1_Missense_Mutation_p.P358L|AASDH_ENST00000451613.1_Missense_Mutation_p.P511L|AASDH_ENST00000513376.1_Missense_Mutation_p.P411L|AASDH_ENST00000502617.1_Missense_Mutation_p.P511L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	511					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAGCTCATCCGGGACTGCATG	0.338000													4	36					0	0	0.009096	0	0
CES5A	221223	broad.mit.edu	37	16	55905539	55905539	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:55905539G>A	ENST00000521992.1	-	4	647	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	CES5A_ENST00000518005.1_Missense_Mutation_p.P33S|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Missense_Mutation_p.P139S|CES5A_ENST00000319165.9_Missense_Mutation_p.P139S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	139						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCTTACGGGGAGCTTGGAG	0.562000													9	26					0	0	0.010729	0	0
KRT24	192666	broad.mit.edu	37	17	38854842	38854842	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:38854842C>T	ENST00000264651.2	-	7	1478	c.1422G>A	c.(1420-1422)agG>agA	p.R474R		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	474	Tail.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ATACCAGATCCCTGGATCCCA	0.373000													69	101					0	0	0.014410	0	0
PPIG	9360	broad.mit.edu	37	2	170465225	170465225	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:170465225A>G	ENST00000260970.3	+	7	554	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	PPIG_ENST00000409714.3_Missense_Mutation_p.M97V|PPIG_ENST00000462903.1_Missense_Mutation_p.M112V|PPIG_ENST00000448752.2_Missense_Mutation_p.M112V	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	112	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCTCTTGTCAATGGCCAACAG	0.358000													5	28					0	0	0.001168	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	58					0	0	0.000602	0	0
ZNF608	57507	broad.mit.edu	37	5	123983396	123983396	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:123983396G>A	ENST00000306315.5	-	4	3116	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L	ZNF608_ENST00000504926.1_Missense_Mutation_p.P467L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	894						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAAGGGCTGGGAGCGTTGTC	0.562000													15	49					0	0	0.002450	0	0
KLK6	5653	broad.mit.edu	37	19	51470570	51470570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:51470570C>T	ENST00000376851.3	-	3	491	c.52G>A	c.(52-54)Gag>Aag	p.E18K	KLK6_ENST00000376853.4_Missense_Mutation_p.E18K|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Missense_Mutation_p.E18K|KLK6_ENST00000594641.1_Missense_Mutation_p.E18K	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	18					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTATTCTGCTCCTCTGCCCAG	0.567000													15	29					0	0	0.004990	0	0
ACTL8	81569	broad.mit.edu	37	1	18152407	18152407	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:18152407C>T	ENST00000375406.1	+	3	710	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	165						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAGGGCCGCCCCTTGCCCGCC	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	32					0	0	0.002450	0	0
AFF2	2334	broad.mit.edu	37	X	148068951	148068951	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:148068951G>A	ENST00000370460.2	+	20	4157	c.3678G>A	c.(3676-3678)ggG>ggA	p.G1226G	AFF2_ENST00000286437.5_Silent_p.G867G|AFF2_ENST00000342251.3_Silent_p.G1193G|AFF2_ENST00000370457.5_Silent_p.G1191G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1226					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACGCAATGGGGAACTGTAACA	0.522000													16	111					0	0	0.008871	0	0
CD22	933	broad.mit.edu	37	19	35827052	35827052	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:35827052T>G	ENST00000085219.5	+	4	592	c.526T>G	c.(526-528)Tgg>Ggg	p.W176G	CD22_ENST00000594250.1_Missense_Mutation_p.W176G|CD22_ENST00000544992.2_Missense_Mutation_p.W176G|CD22_ENST00000536635.2_Missense_Mutation_p.W176G|CD22_ENST00000341773.6_Missense_Mutation_p.W176G|CD22_ENST00000270311.6_Missense_Mutation_p.W56G|CD22_ENST00000419549.2_Splice_Site_p.W4_splice	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	176	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCAATTGCAGTGGCTCCTAGA	0.537000													66	77					0	0	0.014410	0	0
NEU4	129807	broad.mit.edu	37	2	242757595	242757595	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:242757595G>A	ENST00000391969.2	+	5	1387	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	NEU4_ENST00000404257.1_Missense_Mutation_p.A238T|NEU4_ENST00000405370.1_Missense_Mutation_p.A226T|NEU4_ENST00000407683.1_Missense_Mutation_p.A226T|NEU4_ENST00000325935.6_Missense_Mutation_p.A239T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	226						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GTGCCAGCTGGCGGCGGTGGA	0.697000													5	4					0	0	0.001168	0	0
ASUN	55726	broad.mit.edu	37	12	27068991	27068991	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:27068991C>G	ENST00000261191.7	-	11	1728	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	ASUN_ENST00000539625.1_Missense_Mutation_p.D297H	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	398					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GAAGGTGGATCTTCTAGAATG	0.378000													14	25					0	0	0.003163	0	0
CNNM1	26507	broad.mit.edu	37	10	101124759	101124759	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:101124759C>T	ENST00000356713.4	+	6	2465	c.2176_splice	c.e6+1	p.L726_splice	CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice|CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	726					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCTGTCTTTCGTATGTATCT	0.547000													6	15					0	0	0.001984	0	0
ALG2	85365	broad.mit.edu	37	9	101980896	101980896	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:101980896G>A	ENST00000476832.1	-	2	632	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	ALG2_ENST00000319033.6_Silent_p.L98L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	191					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGTGAGACAGGGACTTGAAT	0.468000													21	57					0	0	0.003330	0	0
MAGI2	9863	broad.mit.edu	37	7	77762378	77762378	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:77762378C>T	ENST00000354212.4	-	18	3285		c.e18-1		MAGI2_ENST00000419488.1_Splice_Site|MAGI2_ENST00000522391.1_Splice_Site	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2							cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTTGAGCTCTGCGATGGAG	0.597000													68	49					0	0	0.014410	0	0
PEX5	5830	broad.mit.edu	37	12	7362708	7362708	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7362708C>G	ENST00000266563.5	+	15	1881	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	PEX5_ENST00000412720.2_Missense_Mutation_p.I624M|PEX5_ENST00000455147.2_Missense_Mutation_p.I603M|PEX5_ENST00000266564.3_Missense_Mutation_p.I595M|PEX5_ENST00000434354.2_Missense_Mutation_p.I618M|PEX5_ENST00000420616.2_Missense_Mutation_p.I603M	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	603					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CGGAGAACATCTGGAGCACCC	0.597000													24	48					0	0	0.003330	0	0
PREX1	57580	broad.mit.edu	37	20	47267975	47267975	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:47267975T>C	ENST00000396220.1	-	22	2636	c.2614A>G	c.(2614-2616)Aag>Gag	p.K872E	PREX1_ENST00000371941.3_Missense_Mutation_p.K872E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	872					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCACGATCTTCTCCAGCACA	0.627000													21	48					0	0	0.014323	0	0
ATRX	546	broad.mit.edu	37	X	76776955	76776955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:76776955C>T	ENST00000373344.5	-	33	7211	c.6997G>A	c.(6997-6999)Gaa>Aaa	p.E2333K	ATRX_ENST00000395603.3_Missense_Mutation_p.E2295K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2333					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAACTTTTTCTCTTCCTTGA	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	38					0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	166019313	166019313	+	Silent	SNP	C	C	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:166019313C>T	ENST00000360093.3	-	8	1211	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCN3A_ENST00000409101.3_Silent_p.L240L|SCN3A_ENST00000283254.7_Silent_p.L240L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	240						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCGACTGGATCAGGGCCCCCA	0.458000													27	68					0	0	0.006320	0	0
UPF1	5976	broad.mit.edu	37	19	18965518	18965518	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:18965518G>A	ENST00000262803.5	+	9	1537	c.1265_splice	c.e9+1	p.R422_splice	UPF1_ENST00000599848.1_Splice_Site_p.R433_splice	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	433					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCTTTGACAGGTACGTCTTC	0.582000													26	76					0	0	0.003330	0	0
OR4D11	219986	broad.mit.edu	37	11	59271159	59271159	+	Silent	SNP	G	G	A	rs146036577		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:59271159G>A	ENST00000313253.1	+	1	111	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTACATGACGACTCTGCTGG	0.453000													33	109					0	0	0.012213	0	0
SEMA3E	9723	broad.mit.edu	37	7	83277754	83277754	+	Silent	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:83277754C>G	ENST00000307792.3	-	1	572	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	35	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTATGTGACAGGCGTAACC	0.408000													6	33					0	0	0.001168	0	0
PCNT	5116	broad.mit.edu	37	21	47786747	47786747	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47786747A>T	ENST00000359568.5	+	15	2965	c.2858A>T	c.(2857-2859)cAc>cTc	p.H953L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	953					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGACAAAACACGCTGCCGAC	0.592000													18	68					0	0	0.007413	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431165	56431165	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:56431165G>A	ENST00000302969.2	+	1	28	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGAAGCAATGGATAAAGAAAA	0.393000													15	45					0	0	0.003163	0	0
CORO7	79585	broad.mit.edu	37	16	4412725	4412725	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:4412725G>A	ENST00000251166.4	-	15	1435	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	CORO7-PAM16_ENST00000572467.1_Silent_p.S430S|CORO7_ENST00000574025.1_Silent_p.S345S|CORO7_ENST00000539968.1_Silent_p.S210S|CORO7_ENST00000537233.2_Silent_p.S412S|CORO7_ENST00000423908.2_Silent_p.S262S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AACTGGGAGGGGAAGAGAAAC	0.667000													4	12					0	0	0.009096	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47581254	47581254	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47581254G>A	ENST00000334194.3	+	10	1258	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	419						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTATTTCTGGGAAGACCCTCA	0.443000													10	31					0	0	0.010729	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061796	103061796	+	Silent	SNP	A	A	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:103061796A>G	ENST00000264260.2	+	9	1657	c.1068A>G	c.(1066-1068)agA>agG	p.R356R	IL18RAP_ENST00000409369.1_Silent_p.R214R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	356					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAGAAAAGAGAGGAGGTAAGC	0.453000													8	53					0	0	0.003080	0	0
STAG3	10734	broad.mit.edu	37	7	99799470	99799470	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:99799470C>G	ENST00000426455.1	+	22	2689	c.2282C>G	c.(2281-2283)tCt>tGt	p.S761C	GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S703C|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.S761C			Q9UJ98	STAG3_HUMAN	stromal antigen 3	761					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)					ACCCACATTTCTAAATCAGAT	0.448000													18	69					0	0	0.007413	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171534	150171534	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:150171534G>A	ENST00000307271.3	+	4	1691	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	373						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGGGGATCAGGATCTAGATAC	0.398000													75	94					0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82837484	82837484	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:82837484G>C	ENST00000265077.3	+	8	9227	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1901Q|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2888	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCACATAACTGAGCCTCCCTC	0.388000													14	43					0	0	0.002450	0	0
OR4C16	219428	broad.mit.edu	37	11	55340452	55340452	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:55340452G>A	ENST00000314634.3	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V283V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAACCCTGTGATTTACACGC	0.378000													5	8					0	0	0.000602	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788040	65788040	+	Silent	SNP	G	G	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:65788040G>A	ENST00000312106.5	-	7	2123	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	662					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTCACTTGAGGAAGATGAAGT	0.592000													10	27					0	0	0.006214	0	0
CASZ1	54897	broad.mit.edu	37	1	10720200	10720200	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:10720200delA	ENST00000377022.3	-	6	1216	c.899delT	c.(898-900)gcfs	p.V300fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.V300fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGCATCTGGACACTGCTGTG	0.647													32	141	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:65150817delC	ENST00000430126.2	+	0	757																											TCATCCCTCACCCCCCCCCCC	0.468													5	11	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													7	166	---	---	---	---					
C19orf44	84167	broad.mit.edu	37	19	16620727	16620727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:16620727delG	ENST00000221671.3	+	5	1723	c.1567delG	c.(1567-1569)tgfs	p.V523fs	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Frame_Shift_Del_p.V523fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	523										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGGCAGGCACGTGACAAGAGT	0.562													16	75	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													10	110	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													9	165	---	---	---	---					
