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
EXPH5	23086	broad.mit.edu	37	11	108412521	108412521	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:108412521C>G	ENST00000265843.4	-	2	248	c.138G>C	c.(136-138)aaG>aaC	p.K46N	EXPH5_ENST00000428840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.K39N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	46					intracellular protein transport		Rab GTPase binding	p.K46N(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGATATCCCTCTTTGTCTTCT	0.303000													4	136					0	0	0.000602	0	0
FETUB	26998	broad.mit.edu	37	3	186370114	186370114	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:186370114G>T	ENST00000265029.3	+	7	944	c.843G>T	c.(841-843)gtG>gtT	p.V281V	FETUB_ENST00000539949.1_Silent_p.V133V|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Silent_p.V281V|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.V216V|FETUB_ENST00000382136.3_Silent_p.V244V	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	281						extracellular space	cysteine-type endopeptidase inhibitor activity	p.V281V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TTCCCAAGGTGGAAGAATCCC	0.468000													75	150					6.85908e-49	8.6797e-49	0.014410	1	0
ACVR1	90	broad.mit.edu	37	2	158626930	158626930	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:158626930C>T	ENST00000263640.3	-	7	1169	c.740G>A	c.(739-741)aGg>aAg	p.R247K	ACVR1_ENST00000434821.1_Missense_Mutation_p.R247K|ACVR1_ENST00000410057.2_Missense_Mutation_p.R247K|ACVR1_ENST00000409283.2_Missense_Mutation_p.R247K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	247	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	p.R247K(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTCCGTTTCCCTGAACCATGA	0.463000													47	111					0	0	0.014410	0	0
MUC5B	727897	broad.mit.edu	37	11	1275485	1275485	+	Silent	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:1275485C>A	ENST00000447027.1	+	34	15448	c.15390C>A	c.(15388-15390)gcC>gcA	p.A5130A	MUC5B_ENST00000529681.1_Silent_p.A5127A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5127	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A5127A(1)|p.A5082A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCACTGCCGCTGCCGCCC	0.607000													14	15					1.42536e-11	1.71377e-11	0.004656	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145473380	145473380	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:145473380C>A	ENST00000323397.4	+	4	1345	c.52C>A	c.(52-54)Cta>Ata	p.L18I		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	18								p.L18I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAGGGTAAGCTACGCTTGGC	0.657000													37	35					1.15183e-24	1.43106e-24	0.009718	1	0
SLIT3	6586	broad.mit.edu	37	5	168149326	168149326	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:168149326C>T	ENST00000519560.1	-	23	2837	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	SLIT3_ENST00000404867.3_Silent_p.L806L|SLIT3_ENST00000332966.8_Silent_p.L806L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	806					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L806L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTGTAGCTCAGGATCCTGT	0.512000													4	53					0	0	0.009096	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974804	29974804	+	RNA	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:29974804A>G	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGACCGAGTGAACCTGCGGAC	0.672000													3	21					0	0	0.001168	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													5	293					0	0	0.001168	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299513	125299513	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:125299513C>A	ENST00000538699.1	-	2	475	c.395G>T	c.(394-396)cGc>cTc	p.R132L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R132L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	132								p.R132L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GAGGGGGATGCGCGTGATGTG	0.637000													4	90					0.00116845	0.00132704	0.001168	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798615	119798615	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:119798615C>A	ENST00000355624.3	-	3	1572	c.1133G>T	c.(1132-1134)gGg>gTg	p.G378V	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G378V|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	378					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.G378V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCAGATCCCCCATTGTTAAG	0.348000													56	101					4.88482e-21	6.05069e-21	0.014410	1	0
SLC3A2	6520	broad.mit.edu	37	11	62656063	62656063	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:62656063C>T	ENST00000377892.1	+	13	2108	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	SLC3A2_ENST00000377889.2_Silent_p.L535L|SLC3A2_ENST00000535296.1_Silent_p.L566L|SLC3A2_ENST00000377890.2_Silent_p.L597L|SLC3A2_ENST00000536981.1_Silent_p.L142L|SLC3A2_ENST00000338663.7_Silent_p.L496L|SLC3A2_ENST00000377891.2_Silent_p.L598L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	597					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.L628L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACCTCCTGCTCAGCACCCAGC	0.662000													18	62					0	0	0.008361	0	0
CXorf22	170063	broad.mit.edu	37	X	35988982	35988982	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:35988982T>C	ENST00000297866.5	+	11	1978	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	638								p.Y638H(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGAAAACTATTATGCAATGTA	0.318000													9	2					0	0	0.010729	0	0
TBC1D8	11138	broad.mit.edu	37	2	101646205	101646205	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:101646205A>G	ENST00000409318.1	-	12	2100	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	TBC1D8_ENST00000376840.4_Missense_Mutation_p.L642P	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	642	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.L642P(1)|p.L657P(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACCCTTGATGAGCTCCTCGAA	0.557000													24	63					0	0	0.009535	0	0
DEPDC4	120863	broad.mit.edu	37	12	100649949	100649949	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:100649949G>C	ENST00000416321.1	-	4	758	c.756C>G	c.(754-756)ttC>ttG	p.F252L		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	252					intracellular signal transduction			p.F252L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TATTGTCCAAGAATGGAAGGT	0.323000													4	83					0	0	0.009096	0	0
GDF9	2661	broad.mit.edu	37	5	132197487	132197487	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:132197487G>A	ENST00000378673.2	-	3	2025	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	GDF9_ENST00000296875.2_Missense_Mutation_p.P387S			O60383	GDF9_HUMAN	growth differentiation factor 9	387					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.P387S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGCCCTTGGACAGTCCCCT	0.502000													4	90					0	0	0.000602	0	0
LDOC1	23641	broad.mit.edu	37	X	140270933	140270933	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:140270933G>A	ENST00000370526.2	-	1	377	c.274C>T	c.(274-276)Cta>Tta	p.L92L	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	92					negative regulation of cell proliferation	nucleus	protein binding	p.L92L(1)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					AGGCTGATTAGGAATGCCACC	0.582000													4	109					0	0	0.001168	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605037	13605037	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:13605037G>C	ENST00000040738.5	-	10	3622	c.3487C>G	c.(3487-3489)Caa>Gaa	p.Q1163E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1163							DNA binding	p.Q1163E(1)									TCATCCTTTTGAACAGTGGCA	0.373000													16	150					0	0	0.006122	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574422	140574422	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:140574422T>C	ENST00000239446.4	+	1	2481	c.2297T>C	c.(2296-2298)tTc>tCc	p.F766S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		766					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F766S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGTGAGTTCAAGTTCTTG	0.522000													53	88					0	0	0.014410	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493842	6493842	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:6493842G>A	ENST00000361413.3	-	17	2907	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	KIAA0753_ENST00000572370.1_Missense_Mutation_p.P551L|KIAA0753_ENST00000589033.1_Missense_Mutation_p.P306L|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P551L|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	850						centrosome		p.P850L(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCATTACAGGGCCTTTCTAA	0.403000													25	74					0	0	0.008361	0	0
ATM	472	broad.mit.edu	37	11	108159736	108159736	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:108159736T>G	ENST00000278616.4	+	28	4527	c.4142T>G	c.(4141-4143)tTt>tGt	p.F1381C	ATM_ENST00000452508.2_Missense_Mutation_p.F1381C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1381	Interaction with ABL1.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.F1381C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCACCTCATTTTCCATCGCAT	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	121					0	0	0.001168	0	0
CLU	1191	broad.mit.edu	37	8	27462598	27462598	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:27462598G>A	ENST00000316403.10	-	5	1077	c.672C>T	c.(670-672)cgC>cgT	p.R224R	CLU_ENST00000405140.3_Silent_p.R224R|CLU_ENST00000560366.1_Silent_p.R276R|CLU_ENST00000523500.1_Silent_p.R224R|CLU_ENST00000546343.1_Silent_p.R235R			P10909	CLUS_HUMAN	clusterin	224				R -> L (in Ref. 3; BAG36598).	chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.R276R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGCGGACGATGCGGGACTTGG	0.602000													24	82					0	0	0.005443	0	0
PSG5	5673	broad.mit.edu	37	19	43680050	43680050	+	Silent	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:43680050G>C	ENST00000404580.1	-	3	769	c.681C>G	c.(679-681)cgC>cgG	p.R227R	PSG5_ENST00000366175.3_Silent_p.R227R|PSG5_ENST00000407356.1_Silent_p.R227R|PSG5_ENST00000599812.1_Silent_p.R320R|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.R227R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	227	Ig-like C2-type 1.		R -> H (in dbSNP:rs1058285).		female pregnancy	extracellular region		p.R227R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGGGTCACTGCGCATGCCAC	0.493000													79	148					0	0	0.014410	0	0
RUSC2	9853	broad.mit.edu	37	9	35561270	35561270	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:35561270G>C	ENST00000455600.1	+	12	5011	c.4442G>C	c.(4441-4443)gGa>gCa	p.G1481A		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1481	SH3.					cytosol		p.G1481A(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCGAGCTGGAGGAGACTGG	0.652000													3	49					0	0	0.004672	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890048	6890048	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:6890048C>T	ENST00000419673.2	+	12	1438	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	ARHGAP28_ENST00000532996.1_Silent_p.I389I|ARHGAP28_ENST00000400091.2_Silent_p.I566I|ARHGAP28_ENST00000383472.4_Silent_p.I566I|ARHGAP28_ENST00000262227.3_Silent_p.I514I|ARHGAP28_ENST00000531294.1_Silent_p.I402I|ARHGAP28_ENST00000314319.3_Silent_p.I407I|ARHGAP28_ENST00000418986.1_Silent_p.I407I	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	389					signal transduction	intracellular		p.I407I(1)|p.I566I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCCACATCATCCGCCTAATGC	0.448000													6	152					0	0	0.001984	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009066	57009066	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:57009066A>T	ENST00000179765.5	-	3	661	c.462T>A	c.(460-462)agT>agA	p.S154R	BAZ2A_ENST00000549884.1_Missense_Mutation_p.S154R|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S156R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S156R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	156					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.S156R(2)|p.S192R(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCCCCATGGGACTCTGGGTAC	0.522000													24	41					0	0	0.003330	0	0
REV3L	5980	broad.mit.edu	37	6	111695225	111695225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:111695225C>A	ENST00000435970.1	-	15	4915	c.4099G>T	c.(4099-4101)Gga>Tga	p.G1367*	REV3L_ENST00000368805.1_Nonsense_Mutation_p.G1445*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.G1445*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.G1445*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1445					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.G1367*(1)|p.G1445*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCTGTATTTCCCGGAGAACAA	0.428000								DNA polymerases (catalytic subunits)					56	133					6.3091e-27	7.88638e-27	0.014410	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413043	105413043	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:105413043C>G	ENST00000333244.5	-	7	8864	c.8745G>C	c.(8743-8745)caG>caC	p.Q2915H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2915						nucleus		p.Q2915H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACGTCTATCTGGGGGCCCT	0.652000													17	420					0	0	0.006122	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676690	65676690	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:65676690G>C	ENST00000352385.2	-	20	3619	c.3410C>G	c.(3409-3411)tCt>tGt	p.S1137C	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1137						integral to membrane|plasma membrane		p.S1137C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						ACTAAAGTCAGAGTGGACAAT	0.552000													3	142					0	0	0.004672	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183031	11183031	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:11183031T>C	ENST00000390675.2	-	1	975	c.904A>G	c.(904-906)Aaa>Gaa	p.K302E	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	302					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.K302E(1)		kidney(1)|lung(6)	7						TTCTCTCCTTTCACCCAGTAC	0.408000													7	225					0	0	0.001984	0	0
ACSL1	2180	broad.mit.edu	37	4	185697770	185697770	+	Silent	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:185697770G>C	ENST00000515030.1	-	7	949	c.624C>G	c.(622-624)ctC>ctG	p.L208L	ACSL1_ENST00000281455.2_Silent_p.L208L|ACSL1_ENST00000454703.2_Silent_p.L37L|ACSL1_ENST00000507295.1_Silent_p.L174L|ACSL1_ENST00000437665.3_Silent_p.L37L|ACSL1_ENST00000513317.1_Silent_p.L208L|ACSL1_ENST00000504900.1_Silent_p.L208L|ACSL1_ENST00000504342.1_Silent_p.L208L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	208					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.L208L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCTAATAAGAGTTTGGCCT	0.418000													4	92					0	0	0.000602	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143770	61143770	+	RNA	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:61143770C>T	ENST00000475015.1	-	0	568				C20orf166-AS1_ENST00000412495.1_RNA														p.E26E(1)									AACCGCTGCTCTCCTGCGTCC	0.662000													9	129					0	0	0.008291	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517081	158517081	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:158517081G>T	ENST00000302617.3	-	1	814	c.815C>A	c.(814-816)gCc>gAc	p.A272D		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272D(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGAATTGTAGGCATACATGAG	0.473000													133	135					1.02165e-56	1.29683e-56	0.014410	1	0
KRT75	9119	broad.mit.edu	37	12	52826902	52826902	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:52826902C>T	ENST00000252245.5	-	2	853	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	211	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.L211L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGATGCTTTCCAGCTGCCGTC	0.557000													5	176					0	0	0.000602	0	0
EIF5B	9669	broad.mit.edu	37	2	99998629	99998629	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:99998629G>C	ENST00000289371.5	+	13	2271	c.2069G>C	c.(2068-2070)aGa>aCa	p.R690T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	690					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.R690T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGTTTGATAGAGAGAATGTA	0.353000													5	60					0	0	0.001984	0	0
ZIC4	84107	broad.mit.edu	37	3	147113672	147113672	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:147113672C>G	ENST00000383075.3	-	3	1167	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.E219Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.E219Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.E257Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.E269Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	219						nucleus	DNA binding|zinc ion binding	p.E219Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTGAGATTTTCTGATCTAGCA	0.532000													4	165					0	0	0.009096	0	0
OR2M7	391196	broad.mit.edu	37	1	248487240	248487240	+	Missense_Mutation	SNP	C	C	G	rs146462189	byFrequency	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:248487240C>G	ENST00000317965.2	-	1	659	c.631G>C	c.(631-633)Gtt>Ctt	p.V211L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V211L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGATTGCAACAGGGAAAACA	0.423000													274	294					0	0	0.014410	0	0
GSTK1	373156	broad.mit.edu	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:142960620C>A	ENST00000479303.1	+	1	72	c.14C>A	c.(13-15)cCg>cAg	p.P5Q	GSTK1_ENST00000409500.3_Missense_Mutation_p.P5Q|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Missense_Mutation_p.P5Q|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5Q	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	5						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	p.P5Q(2)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677000													6	133					8.12818e-05	9.38748e-05	0.001984	1	0
GOLPH3	64083	broad.mit.edu	37	5	32135777	32135777	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:32135777C>A	ENST00000265070.6	-	3	688	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	GOLPH3_ENST00000512668.1_5'UTR	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	125					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.D125Y(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GTTGGAGCATCTGACTTACAG	0.373000													45	80					6.08268e-21	7.51174e-21	0.014410	1	0
UTY	7404	broad.mit.edu	37	Y	15372253	15372253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrY:15372253G>A	ENST00000331397.4	-	26	4758	c.3751C>T	c.(3751-3753)Cag>Tag	p.Q1251*	UTY_ENST00000382896.4_Nonsense_Mutation_p.Q1296*|UTY_ENST00000537580.1_Nonsense_Mutation_p.Q1172*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1251					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1251*(2)		kidney(1)|lung(6)	7						CTCAATGTCTGATATTGCTTC	0.363000													11	54					0	0	0.010729	0	0
CDC42SE1	56882	broad.mit.edu	37	1	151026774	151026774	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:151026774C>T	ENST00000439374.2	-	7	1073	c.189G>A	c.(187-189)atG>atA	p.M63I	CDC42SE1_ENST00000357235.5_Missense_Mutation_p.M63I|CDC42SE1_ENST00000540998.1_Missense_Mutation_p.M63I|CDC42SE1_ENST00000492796.1_5'UTR			Q9NRR8	C42S1_HUMAN	CDC42 small effector 1	63					phagocytosis|regulation of cell shape|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase inhibitor activity	p.M63I(2)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTGGATCTCATCTGCTCCT	0.448000													12	498					0	0	0.013537	0	0
DENND4B	9909	broad.mit.edu	37	1	153911514	153911514	+	Silent	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:153911514G>C	ENST00000361217.4	-	13	2245	c.1827C>G	c.(1825-1827)ctC>ctG	p.L609L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	609	dDENN.							p.L497L(1)|p.L609L(1)		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)			CCCGGGATTTGAGGAAGCCTG	0.547000													3	39					0	0	0.004672	0	0
PCYT2	5833	broad.mit.edu	37	17	79867409	79867409	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:79867409G>A	ENST00000538936.2	-	2	267	c.159C>T	c.(157-159)atC>atT	p.I53I	PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000571105.1_Silent_p.I53I|PCYT2_ENST00000570391.1_Silent_p.I21I|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000538721.2_Silent_p.I53I	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	53	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	p.I53I(1)		breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCACGCCTACGATGAGGTAGT	0.632000													5	134					0	0	0.001984	0	0
VTN	7448	broad.mit.edu	37	17	26696372	26696372	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:26696372C>T	ENST00000226218.4	-	4	1225	c.607G>A	c.(607-609)Gag>Aag	p.E203K	TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	203	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.E203K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ATGGGGCCCTCGATGCCCCAG	0.587000													8	119					0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	215914740	215914740	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:215914740G>C	ENST00000366943.2	-	60	12074	c.11688C>G	c.(11686-11688)atC>atG	p.I3896M	USH2A_ENST00000307340.3_Missense_Mutation_p.I3896M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3896	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I3896M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTTGATGATGATTCCATTTG	0.388000										HNSCC(13;0.011)			34	176					0	0	0.003271	0	0
FANCA	2175	broad.mit.edu	37	16	89862360	89862360	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:89862360G>C	ENST00000389301.3	-	11	990	c.960C>G	c.(958-960)ttC>ttG	p.F320L	FANCA_ENST00000568369.1_Missense_Mutation_p.F320L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	320					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.F320L(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGTATGACTGAAGAACCTCT	0.522000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	91					0	0	0.004672	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152196	72152196	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:72152196G>T	ENST00000555818.1	+	10	3570	c.3222G>T	c.(3220-3222)aaG>aaT	p.K1074N	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.K549N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K1074N|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K1074N	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1074					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.K1074N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACGCCAGCAAGGGGCCTCATT	0.507000													86	56					5.02048e-33	6.33353e-33	0.014410	1	0
MATR3	9782	broad.mit.edu	37	5	138661216	138661216	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:138661216G>C	ENST00000394800.2	+	17	2929	c.2380G>C	c.(2380-2382)Gaa>Caa	p.E794Q	MATR3_ENST00000503811.1_Missense_Mutation_p.E458Q|MATR3_ENST00000502929.1_Missense_Mutation_p.E794Q|MATR3_ENST00000504203.1_Missense_Mutation_p.E408Q|MATR3_ENST00000394805.3_Missense_Mutation_p.E746Q|MATR3_ENST00000361059.2_Missense_Mutation_p.E746Q|MATR3_ENST00000502499.1_Missense_Mutation_p.E408Q|MATR3_ENST00000510056.1_Missense_Mutation_p.E746Q|MATR3_ENST00000509990.1_Missense_Mutation_p.E746Q			P43243	MATR3_HUMAN	matrin 3	746						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.E182Q(1)|p.E746Q(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCAGGTGCTGAATCTTCTGA	0.408000													5	123					0	0	0.000602	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883116	4883116	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:4883116A>G	ENST00000361571.5	-	8	1909	c.1498T>C	c.(1498-1500)Ttc>Ctc	p.F500L	CAMTA2_ENST00000348066.3_Missense_Mutation_p.F501L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F524L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F503L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F501L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F506L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	501					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.F501L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAAGACTGAAGGGCTCCAGT	0.587000													5	251					0	0	0.000602	0	0
CHD6	84181	broad.mit.edu	37	20	40122243	40122243	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:40122243C>T	ENST00000373233.3	-	10	1426	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	CHD6_ENST00000309279.7_Missense_Mutation_p.D417N	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	417	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.D417N(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTACATCTTCCTCTAGC	0.418000													6	127					0	0	0.003080	0	0
PHKA2	5256	broad.mit.edu	37	X	18924680	18924680	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:18924680C>G	ENST00000379942.4	-	25	3404	c.2739G>C	c.(2737-2739)ctG>ctC	p.L913L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	913					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.L913L(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCCGGAGTCTCAGCATCTCCA	0.587000													3	91					0	0	0.004672	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750376	140750376	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:140750376G>C	ENST00000576222.1	+	1	546	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATATCACTGAGCTGGAAAT	0.448000													4	283					0	0	0.009096	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123709	50123709	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:50123709C>G	ENST00000378302.2	-	9	1190	c.930G>C	c.(928-930)tgG>tgC	p.W310C	RCBTB1_ENST00000258646.3_Missense_Mutation_p.W310C|RCBTB1_ENST00000546015.1_Missense_Mutation_p.W310C	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	310					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.W310C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCACTGGCCCCACATGTACA	0.592000													11	51					0	0	0.010729	0	0
FCRL4	83417	broad.mit.edu	37	1	157557312	157557312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:157557312G>A	ENST00000271532.1	-	5	736	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	201	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.Q201*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCTGTAGGCTGAGAGTCTGTA	0.478000													8	252					0	0	0.003080	0	0
SRFBP1	153443	broad.mit.edu	37	5	121355964	121355964	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:121355964G>A	ENST00000339397.4	+	6	606	c.534G>A	c.(532-534)aaG>aaA	p.K178K		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.K178K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TATTGGCGAAGAAACCAATAC	0.343000													36	64					0	0	0.005524	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818250	96818250	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:96818250G>C	ENST00000371270.3	-	5	755	c.661C>G	c.(661-663)Cta>Gta	p.L221V	CYP2C8_ENST00000535898.1_Missense_Mutation_p.L119V|CYP2C8_ENST00000539050.1_Missense_Mutation_p.L135V	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	221					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.L221V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCAATGAGTAGAGGGAAATTA	0.323000													17	39					0	0	0.007413	0	0
THAP9	79725	broad.mit.edu	37	4	83829085	83829085	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:83829085G>A	ENST00000302236.5	+	4	779	c.728G>A	c.(727-729)aGa>aAa	p.R243K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	243							DNA binding|metal ion binding	p.R243K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCCATCCTCAGAACGTAAGTG	0.313000													4	90					0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121420743	121420743	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:121420743C>T	ENST00000260197.7	+	15	2255	c.2126C>T	c.(2125-2127)tCa>tTa	p.S709L		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	709					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S709L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGGAAAGTCATACTCCCCT	0.473000													8	112					0	0	0.004482	0	0
CHD1L	9557	broad.mit.edu	37	1	146727479	146727479	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:146727479G>T	ENST00000369258.4	+	4	379	c.359G>T	c.(358-360)gGt>gTt	p.G120V	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.G120V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	120	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.G120V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTTGCTCCAGGTCTTTCCTGT	0.418000													4	60					0.000602214	0.000685855	0.000602	1	0
CCT2	10576	broad.mit.edu	37	12	69993722	69993722	+	Silent	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:69993722G>C	ENST00000543146.2	+	15	1856	c.1374G>C	c.(1372-1374)ctG>ctC	p.L458L	CCT2_ENST00000299300.6_Silent_p.L505L|CCT2_ENST00000544368.2_Intron	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	505					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.L505L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGTTCTTCTGAGTGCAGCTG	0.433000													5	84					0	0	0.001168	0	0
ARPC3	10094	broad.mit.edu	37	12	110874419	110874419	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:110874419C>G	ENST00000228825.7	-	5	468	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	108					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	p.E108Q(1)		lung(1)|ovary(1)	2						AAACCAGGCTCTCCAGGAATG	0.373000													4	253					0	0	0.000602	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369582	20369582	+	RNA	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:20369582G>C	ENST00000593655.1	-	0	199																											ATCTTACCAGGAGACTGGATA	0.443000													3	147					0	0	0.004672	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602377	61602377	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:61602377C>T	ENST00000238508.3	+	8	1154	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.P366S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GAATTAGAGTCCCATCCATTG	0.388000													5	181					0	0	0.000602	0	0
GNB4	59345	broad.mit.edu	37	3	179132738	179132738	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:179132738G>C	ENST00000232564.3	-	6	651	c.365C>G	c.(364-366)tCt>tGt	p.S122C	GNB4_ENST00000468623.1_Missense_Mutation_p.S122C	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	122					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	p.S122C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GTTATATATAGAGCAGATGTT	0.473000													27	196					0	0	0.005443	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357090	104357090	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:104357090C>T	ENST00000374806.1	-	1	193	c.123G>A	c.(121-123)ctG>ctA	p.L41L	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	38	EF-hand 1.						calcium ion binding	p.S42C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCTCCACGCTCAGAGACCCTG	0.552000													63	98					0	0	0.014410	0	0
EIF5B	9669	broad.mit.edu	37	2	99978250	99978250	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:99978250G>A	ENST00000289371.5	+	4	1088	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	296					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.E296K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCTGCCTCTGAAGAGAAAGC	0.368000													6	131					0	0	0.001984	0	0
G3BP1	10146	broad.mit.edu	37	5	151173756	151173756	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:151173756A>G	ENST00000394123.3	+	5	533	c.388A>G	c.(388-390)Atc>Gtc	p.I130V	G3BP1_ENST00000543466.1_Intron|G3BP1_ENST00000356245.3_Missense_Mutation_p.I130V			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	130	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.I130V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCACAATGATATCTTCAGATA	0.333000													30	117					0	0	0.003271	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265618	22265618	+	RNA	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:22265618G>T	ENST00000390430.2	+	0	160																											ACCAGTGCTGGGGATGATTTT	0.443000													13	11					0.000422831	0.000485605	0.004007	1	0
OR13C8	138802	broad.mit.edu	37	9	107332309	107332309	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:107332309G>A	ENST00000335040.1	+	1	861	c.861G>A	c.(859-861)atG>atA	p.M287I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M287I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATGGAGTGATGACTCCCATGC	0.413000													7	100					0	0	0.003080	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328318	61328318	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:61328318C>T	ENST00000283752.5	-	2	276	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SERPINB3_ENST00000332821.8_Missense_Mutation_p.A45T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	45					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.A45T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTCTTTGGCTCCTAAGAGG	0.438000													5	166					0	0	0.000602	0	0
OR52B2	255725	broad.mit.edu	37	11	6191554	6191554	+	Translation_Start_Site	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:6191554C>T	ENST00000530810.1	-	1	84	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGTGACTCATGATGCACT	0.418000													22	40					0	0	0.002780	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678736	43678736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:43678736G>C	ENST00000374466.3	+	8	1710	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	459					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.D459H(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGGTGGAGAAGATGTTCATCT	0.423000													7	300					0	0	0.003080	0	0
NF2	4771	broad.mit.edu	37	22	30077432	30077432	+	Missense_Mutation	SNP	G	G	C	rs74315505		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:30077432G>C	ENST00000338641.4	+	15	2020	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	NF2_ENST00000361676.4_Missense_Mutation_p.E485Q|NF2_ENST00000353887.4_Missense_Mutation_p.E444Q|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000403999.3_Missense_Mutation_p.E527Q|NF2_ENST00000397789.3_Missense_Mutation_p.E527Q|NF2_ENST00000403435.1_Missense_Mutation_p.E498Q|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Missense_Mutation_p.E444Q|NF2_ENST00000361166.4_Missense_Mutation_p.E527Q|NF2_ENST00000361452.4_Missense_Mutation_p.E486Q	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	527					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(4)|p.E527fs*22(2)|p.E527Q(2)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CGGCAGAGTGGAATACATGGA	0.527000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				5	134					0	0	0.001168	0	0
FBXL3	26224	broad.mit.edu	37	13	77589622	77589622	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:77589622G>C	ENST00000355619.5	-	4	889	c.565C>G	c.(565-567)Ctc>Gtc	p.L189V	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	189					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L189V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGTACTTTGAGAGATGGATCA	0.413000													21	116					0	0	0.002780	0	0
BNC2	54796	broad.mit.edu	37	9	16437286	16437286	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:16437286C>T	ENST00000380672.4	-	6	963	c.906G>A	c.(904-906)gaG>gaA	p.E302E	BNC2_ENST00000380666.2_Silent_p.E302E|BNC2_ENST00000545497.1_Silent_p.E207E|BNC2_ENST00000380667.2_Silent_p.E235E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.E302E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATTGCTGTTCTCTAAGTGAG	0.473000													12	195					0	0	0.002450	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033575	95033575	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:95033575G>A	ENST00000557004.1	+	3	1339	c.918G>A	c.(916-918)cgG>cgA	p.R306R	SERPINA4_ENST00000298841.5_Silent_p.R306R|SERPINA4_ENST00000555095.1_Silent_p.R306R|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	306					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R306R(1)		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)		ACTTGTTGCGGAAGAGGTAAT	0.438000													4	114					0	0	0.000602	0	0
FOXN1	8456	broad.mit.edu	37	17	26851622	26851622	+	Silent	SNP	C	C	G	rs138510671		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:26851622C>G	ENST00000226247.2	+	2	254	c.225C>G	c.(223-225)ccC>ccG	p.P75P	FOXN1_ENST00000579795.1_Silent_p.P75P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	75					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P75P(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACCAGGGCCCGAGCAAGTCC	0.667000													10	62					0	0	0.010729	0	0
CREM	1390	broad.mit.edu	37	10	35500201	35500201	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:35500201C>A	ENST00000333809.8	+	8	976	c.922C>A	c.(922-924)Cgc>Agc	p.R308S	CREM_ENST00000439705.1_Missense_Mutation_p.R245S|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.R55S|CREM_ENST00000463960.1_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000337656.4_Missense_Mutation_p.R259S|CREM_ENST00000463314.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.R229S|CREM_ENST00000356917.5_Missense_Mutation_p.R68S|CREM_ENST00000460270.1_Missense_Mutation_p.R55S|CREM_ENST00000487763.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.R62S|CREM_ENST00000374734.3_Missense_Mutation_p.R196S|CREM_ENST00000488328.1_Intron|CREM_ENST00000354759.3_Missense_Mutation_p.R208S|CREM_ENST00000473940.1_Missense_Mutation_p.R80S|CREM_ENST00000474931.1_Missense_Mutation_p.R72S|CREM_ENST00000490511.1_Intron|CREM_ENST00000484283.1_Intron	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	320					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R259S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CCGGGAGTGTCGCAGGAAGAA	0.493000													19	67					2.89027e-11	3.46494e-11	0.014323	1	0
RGL2	5863	broad.mit.edu	37	6	33263957	33263957	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:33263957C>T	ENST00000497454.1	-	6	1111	c.616G>A	c.(616-618)Gac>Aac	p.D206N	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.D124N	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	206	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.D206N(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CGGATGAGGTCAGCGCTGCCC	0.652000													11	282					0	0	0.002450	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610115	39610115	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:39610115G>C	ENST00000432096.2	+	2	153	c.140G>C	c.(139-141)aGa>aCa	p.R47T	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000223273.2_Missense_Mutation_p.R47T|YAE1D1_ENST00000448268.1_Missense_Mutation_p.R47T			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	47								p.R47T(1)									GAAGGTTATAGAGATGGAATA	0.368000													4	154					0	0	0.009096	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183032	11183032	+	Silent	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:11183032C>A	ENST00000390675.2	-	1	974	c.903G>T	c.(901-903)gtG>gtT	p.V301V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	301					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.K302E(1)		kidney(1)|lung(6)	7						TCTCTCCTTTCACCCAGTACC	0.413000													7	223					8.12818e-05	9.38748e-05	0.001984	1	0
MTOR	2475	broad.mit.edu	37	1	11297992	11297992	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:11297992C>G	ENST00000361445.4	-	13	2192	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	706					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.E706Q(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCCGGATCTCAAACACCTGG	0.572000													7	80					0	0	0.004482	0	0
NCAPG	64151	broad.mit.edu	37	4	17818967	17818967	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:17818967C>T	ENST00000251496.2	+	6	1035	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	287					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	p.R287W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTTGCTCCATCGGTTGGATGT	0.408000													10	167					0	0	0.010729	0	0
MOB1B	92597	broad.mit.edu	37	4	71844961	71844961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:71844961G>T	ENST00000309395.2	+	5	727	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	MOB1B_ENST00000396051.2_Nonsense_Mutation_p.E181*|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	176					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	p.E176*(1)									GCTTCAGGAGGAAGCACATCT	0.393000													23	152					1.55469e-16	1.8971e-16	0.003330	1	0
FCRL1	115350	broad.mit.edu	37	1	157765949	157765949	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:157765949G>T	ENST00000368176.3	-	11	1297	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_3'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.D409E	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	410						integral to membrane|plasma membrane	receptor activity	p.D410E(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGAATAGATGTCTAAGGAAA	0.448000													31	76					8.88839e-20	1.09437e-19	0.010818	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95614143	95614143	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:95614143G>C	ENST00000324972.6	+	8	841	c.648G>C	c.(646-648)ttG>ttC	p.L216F	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.L199F|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.L199F|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.L196F|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.L179F|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.L179F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	216					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.L216F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGAGAGTTGACAGAGGAAG	0.368000													40	67					0	0	0.009718	0	0
TTBK1	84630	broad.mit.edu	37	6	43251404	43251404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:43251404C>T	ENST00000259750.4	+	14	3009	c.2926C>T	c.(2926-2928)Cga>Tga	p.R976*		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	976						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R976*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGAGGGGGCCCGAGCGCCCCT	0.687000													28	34					0	0	0.007291	0	0
COCH	1690	broad.mit.edu	37	14	31349863	31349863	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:31349863G>A	ENST00000460581.2	+	6	762	c.216G>A	c.(214-216)caG>caA	p.Q72Q	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_5'UTR|COCH_ENST00000475087.1_Silent_p.Q184Q|COCH_ENST00000396618.3_Silent_p.Q184Q|COCH_ENST00000216361.4_Silent_p.Q184Q			O43405	COCH_HUMAN	cochlin	184	LCCL.				sensory perception of sound	proteinaceous extracellular matrix		p.Q184Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTAATTTACAGAAGAATTTTG	0.418000													5	257					0	0	0.001168	0	0
LCMT2	9836	broad.mit.edu	37	15	43620678	43620678	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:43620678G>C	ENST00000305641.5	-	1	2125	c.2010C>G	c.(2008-2010)ttC>ttG	p.F670L	LCMT2_ENST00000544735.1_Missense_Mutation_p.F249L|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	670					tRNA processing		methyltransferase activity|protein binding	p.F670L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TATGGGGGTTGAAGTAGGTAC	0.438000													16	132					0	0	0.004990	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881537	33881537	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:33881537C>T	ENST00000504830.1	-	2	511	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R59Q|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R59Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	59					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R59Q(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCATCTACTCGGACTGGACC	0.488000										HNSCC(64;0.19)			29	211					0	0	0.009535	0	0
AADACL2	344752	broad.mit.edu	37	3	151475041	151475041	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:151475041G>C	ENST00000356517.3	+	5	974	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	289						extracellular region|integral to membrane	carboxylesterase activity	p.E289Q(1)|p.E267Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCTTCTTCCTGAGAAGTATAG	0.413000													6	110					0	0	0.001168	0	0
TMEM39B	55116	broad.mit.edu	37	1	32568034	32568034	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:32568034C>T	ENST00000336294.5	+	9	1385	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	TMEM39B_ENST00000373634.4_Silent_p.F214F|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	413						integral to membrane		p.F286F(1)|p.F413F(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCGGGCAGTTCTTTTTCAGCA	0.567000													10	108					0	0	0.010729	0	0
MAN2C1	4123	broad.mit.edu	37	15	75654689	75654689	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:75654689C>G	ENST00000565683.1	-	8	1014	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	MAN2C1_ENST00000563622.1_Missense_Mutation_p.E236Q|MAN2C1_ENST00000267978.5_Missense_Mutation_p.E335Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.E335Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	335					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.E335Q(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTACCATCTCCACCCAGGTG	0.617000													7	38					0	0	0.004482	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781480	128781480	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:128781480C>T	ENST00000529694.1	+	2	688	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNJ5_ENST00000533599.1_Silent_p.F104F|KCNJ5_ENST00000338350.4_Silent_p.F104F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	104					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F104F(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCTGTTCTTCGGCTTCATTT	0.527000													12	120					0	0	0.001855	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243493899	243493899	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:243493899G>C	ENST00000366541.3	+	10	1244	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E231Q|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E333Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	376	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.E376Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGCGACTTGAAAAAGAACT	0.443000													3	79					0	0	0.004672	0	0
CDK13	8621	broad.mit.edu	37	7	40134077	40134077	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:40134077C>G	ENST00000181839.4	+	14	4642	c.4037C>G	c.(4036-4038)tCt>tGt	p.S1346C	CDK13_ENST00000340829.5_Missense_Mutation_p.S1286C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1346					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S1346C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCTTTCTCTTCTGCTCCTTAT	0.428000													4	139					0	0	0.000602	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400074	139400074	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:139400074C>A	ENST00000277541.6	-	25	4349	c.4274G>T	c.(4273-4275)tGc>tTc	p.C1425F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1425	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C1426F(1)|p.C1425F(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGATGTGGCACAAGAGCCC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	21					1.58986e-06	1.86775e-06	0.008291	1	0
NUP205	23165	broad.mit.edu	37	7	135310104	135310104	+	Splice_Site	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:135310104G>T	ENST00000285968.6	+	32	4697		c.e32+1			NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATCTAAAATGGTAAGGCTTTC	0.368000													46	73					9.52127e-25	1.18654e-24	0.014410	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29758831	29758831	+	Splice_Site	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:29758831G>T	ENST00000325874.8	+	2	389	c.159_splice	c.e2-1	p.V54_splice		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	54	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)|p.V54L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ATTCCCACAGGTGGAAAAACT	0.562000													21	51					3.83957e-06	4.47223e-06	0.002780	1	0
COL7A1	1294	broad.mit.edu	37	3	48605555	48605555	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:48605555C>G	ENST00000328333.8	-	105	7950	c.7843G>C	c.(7843-7845)Gat>Cat	p.D2615H	COL7A1_ENST00000454817.1_Missense_Mutation_p.D2583H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2615	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.D2615H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCCAACATCTCCTTTTTCT	0.542000													15	109					0	0	0.004007	0	0
DOT1L	84444	broad.mit.edu	37	19	2222272	2222272	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:2222272C>G	ENST00000398665.3	+	24	3140	c.3104C>G	c.(3103-3105)tCa>tGa	p.S1035*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1035						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.S1035*(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TCCGGCTTCTCAGATCCTGAG	0.667000													3	45					0	0	0.009096	0	0
HELZ	9931	broad.mit.edu	37	17	65083055	65083055	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:65083055G>C	ENST00000358691.5	-	32	5550	c.5384C>G	c.(5383-5385)tCt>tGt	p.S1795C	HELZ_ENST00000580168.1_Missense_Mutation_p.S1796C	NM_014877.3	NP_055692.2			helicase with zinc finger									p.S1795C(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAAGTTGAAAGAAGATTGGTT	0.473000													10	156					0	0	0.006214	0	0
IMPG1	3617	broad.mit.edu	37	6	76660781	76660781	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:76660781G>C	ENST00000369950.3	-	13	1511	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	441					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.S441C(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGGGAGGTAGAGGCCATAGC	0.438000													4	101					0	0	0.009096	0	0
POTEE	445582	broad.mit.edu	37	2	131976380	131976380	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:131976380C>T	ENST00000356920.5	+	1	499	c.405C>T	c.(403-405)gtC>gtT	p.V135V	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.V135V|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	135							ATP binding	p.V135V(2)									GGTACCACGTCCGTGGAGAAG	0.597000													31	103					0	0	0.003755	0	0
GPS1	2873	broad.mit.edu	37	17	80014187	80014187	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:80014187G>A	ENST00000392358.2	+	9	1424	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	GPS1_ENST00000320548.4_Missense_Mutation_p.E303K|GPS1_ENST00000355130.2_Missense_Mutation_p.E359K|GPS1_ENST00000306823.6_Missense_Mutation_p.E323K|GPS1_ENST00000578552.1_Missense_Mutation_p.E319K	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	323	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	p.E359K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CTTGGAGCTGGAGCCACAGGT	0.582000													35	189					0	0	0.013114	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													4	94					0	0	0.009096	0	0
GRIK4	2900	broad.mit.edu	37	11	120852826	120852826	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:120852826G>C	ENST00000527524.2	+	20	2694	c.2407G>C	c.(2407-2409)Gag>Cag	p.E803Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.E803Q			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	803					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E803Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCTGGGAATGGAGAATATTGG	0.338000													6	323					0	0	0.001168	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422425	47422425	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:47422425G>A	ENST00000404338.3	+	1	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	165					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.D165N(2)									TCTTGGTATTGATGTTAGCAG	0.453000													4	54					0	0	0.009096	0	0
CYP2D7	1564	broad.mit.edu	37	22	42540366	42540366	+	RNA	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:42540366G>A	ENST00000358097.4	-	0	184				CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GGACCTGGCGGGTAGCGTGCA	0.637000													6	18					0	0	0.001168	0	0
SMURF2	64750	broad.mit.edu	37	17	62568061	62568061	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:62568061T>C	ENST00000262435.9	-	10	1058	c.871A>G	c.(871-873)Atc>Gtc	p.I291V	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	291					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.I291V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCACAATTGATGTTGCTAAGA	0.408000													20	52					0	0	0.012319	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222271	140222271	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:140222271C>T	ENST00000531613.1	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.F455F	NM_018911.2	NP_061734.1												p.F455F(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCGTTCGCGCAGCCCG	0.672000													17	97					0	0	0.007413	0	0
ZNF195	7748	broad.mit.edu	37	11	3380816	3380816	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:3380816G>A	ENST00000354599.6	-	4	1310	c.1206C>T	c.(1204-1206)gtC>gtT	p.V402V	ZNF195_ENST00000526601.1_Silent_p.V455V|ZNF195_ENST00000005082.9_Silent_p.V451V|ZNF195_ENST00000429541.2_Silent_p.V406V|ZNF195_ENST00000399602.4_Silent_p.V474V|ZNF195_ENST00000343338.7_Silent_p.V406V|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	474				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V402V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGTTCTGAAGACCTTCCCAC	0.443000													75	107					0	0	0.014410	0	0
PSIP1	11168	broad.mit.edu	37	9	15486913	15486913	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:15486913G>C	ENST00000380733.4	-	5	648	c.305C>G	c.(304-306)tCa>tGa	p.S102*	PSIP1_ENST00000380716.4_Nonsense_Mutation_p.S102*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.S102*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S102*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.S102*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	102					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	p.S102*(2)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGATGCATTTGATTGTTTAGT	0.289000													18	82					0	0	0.006122	0	0
MIR1302-4	100302130	broad.mit.edu	37	2	208134124	208134124	+	RNA	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:208134124C>G	ENST00000412387.1	-	0	315				AC007879.6_ENST00000438824.1_lincRNA|MIR1302-4_ENST00000408701.1_RNA																							atctgaaattcaaattttagc	0.353000													4	25					0	0	0.009096	0	0
KEAP1	9817	broad.mit.edu	37	19	10602581	10602581	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:10602581C>T	ENST00000171111.5	-	3	1544	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G333S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	333			G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G333S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGAAGTAGCCGCCCGCGGTG	0.677000													15	11					0	0	0.006122	0	0
BIRC8	112401	broad.mit.edu	37	19	53793072	53793072	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:53793072C>T	ENST00000426466.1	-	1	1803	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	186					apoptosis		zinc ion binding	p.E186K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CAAAGCTTCTCCTCTTGCAGA	0.433000													10	111					0	0	0.006214	0	0
EXOC6B	23233	broad.mit.edu	37	2	72945355	72945355	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:72945355C>T	ENST00000272427.6	-	6	676	c.546G>A	c.(544-546)gtG>gtA	p.V182V	EXOC6B_ENST00000410104.1_Silent_p.V182V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	182					protein transport|vesicle docking involved in exocytosis	exocyst		p.V182V(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGTCCACCATCACCTTGCAGA	0.423000													19	106					0	0	0.008871	0	0
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:107332060G>C	ENST00000335040.1	+	1	612	c.612G>C	c.(610-612)ctG>ctC	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353000													6	204					0	0	0.001984	0	0
HCFC1	3054	broad.mit.edu	37	X	153223608	153223608	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:153223608G>A	ENST00000310441.7	-	11	2862	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	HCFC1_ENST00000354233.3_Silent_p.I563I|HCFC1_ENST00000369984.4_Silent_p.I632I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	632	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I632I(1)|p.I535I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTGATGATAGGGCGGG	0.612000													7	30					0	0	0.008291	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622793	20622793	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:20622793C>T	ENST00000525748.1	+	2	395	c.122C>T	c.(121-123)cCc>cTc	p.P41L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	41					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P41L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAGGAGCTTCCCGCGGCTGCC	0.726000													3	1					0	0	0.009096	0	0
AIM1	202	broad.mit.edu	37	6	106968226	106968226	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:106968226G>A	ENST00000369066.3	+	2	2406	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	640							sugar binding	p.R640K(1)		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)		CAGGGCAGCAGAACACCCCTG	0.532000													8	90					0	0	0.003080	0	0
TBC1D8	11138	broad.mit.edu	37	2	101646204	101646204	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:101646204G>A	ENST00000409318.1	-	12	2101	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	TBC1D8_ENST00000376840.4_Silent_p.L642L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	642	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.L642P(1)|p.L657P(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACCCTTGATGAGCTCCTCGA	0.557000													24	63					0	0	0.009535	0	0
SFI1	9814	broad.mit.edu	37	22	31927083	31927083	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:31927083G>A	ENST00000432498.1	+	4	699	c.306G>A	c.(304-306)atG>atA	p.M102I	SFI1_ENST00000400288.2_Missense_Mutation_p.M102I|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	102					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGATTCGAATGACTTTTGGAA	0.338000													7	169					0	0	0.004482	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038109	90038109	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:90038109C>G	ENST00000314994.3	-	1	833	c.222G>C	c.(220-222)ctG>ctC	p.L74L	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	74					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.L74L(2)		endometrium(1)|lung(2)	3						GAGAGGCTCTCAGAGGAGTAG	0.502000													4	19					0	0	0.009096	0	0
TCF3	6929	broad.mit.edu	37	19	1619133	1619133	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:1619133G>C	ENST00000262965.5	-	16	1771	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	TCF3_ENST00000588136.1_Missense_Mutation_p.S476C|TCF3_ENST00000453954.2_Missense_Mutation_p.S392C|TCF3_ENST00000395423.3_Missense_Mutation_p.S425C|TCF3_ENST00000344749.5_Missense_Mutation_p.S476C	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	476					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.S476C(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGAGGCCGAGACAGGTCAGG	0.657000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								6	64					0	0	0.001984	0	0
PPOX	5498	broad.mit.edu	37	1	161137915	161137915	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:161137915G>C	ENST00000367999.4	+	5	735	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.E157Q|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	157					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.E157Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTTGGACCTGAGGTGACACT	0.572000													4	92					0	0	0.009096	0	0
RIF1	55183	broad.mit.edu	37	2	152303012	152303012	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:152303012G>A	ENST00000243326.4	+	19	2650	c.2167G>A	c.(2167-2169)Gca>Aca	p.A723T	RIF1_ENST00000453091.2_Missense_Mutation_p.A723T|RIF1_ENST00000444746.2_Missense_Mutation_p.A723T|RIF1_ENST00000428287.2_Missense_Mutation_p.A723T|RIF1_ENST00000430328.2_Missense_Mutation_p.A723T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	723					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.A723T(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCTTTGGTGGCAACAGCAGA	0.408000													5	230					0	0	0.000602	0	0
ZNF878	729747	broad.mit.edu	37	19	12157506	12157506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:12157506G>A	ENST00000602107.1	-	3	213	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	ZNF878_ENST00000547628.1_Nonsense_Mutation_p.Q25*|CTD-2006C1.10_ENST00000547473.1_Nonsense_Mutation_p.Q25*			C9JN71	ZN878_HUMAN	zinc finger protein 878	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.Q25*(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGATTTTTCTGGGAAGGATCC	0.478000													27	145					0	0	0.003954	0	0
TRIM2	23321	broad.mit.edu	37	4	154215474	154215474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:154215474C>G	ENST00000338700.5	+	5	688	c.623C>G	c.(622-624)tCt>tGt	p.S208C	TRIM2_ENST00000437508.2_Missense_Mutation_p.S181C|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	181						cytoplasm	zinc ion binding	p.S181C(1)|p.S208C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GAAATAGATTCTGCTCTTCAG	0.388000													5	99					0	0	0.001984	0	0
PTX3	5806	broad.mit.edu	37	3	157160340	157160340	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:157160340C>G	ENST00000295927.3	+	3	863	c.718C>G	c.(718-720)Ctc>Gtc	p.L240V	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	240	Pentaxin.				inflammatory response	extracellular region		p.L240V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCAGCTGTATCTCAGCTACCA	0.473000													3	111					0	0	0.009096	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097678	9097678	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:9097678C>G	ENST00000377424.4	-	12	1652	c.1473G>C	c.(1471-1473)ctG>ctC	p.L491L	SLC2A5_ENST00000536305.1_Silent_p.L432L|SLC2A5_ENST00000535586.1_Silent_p.L376L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	491					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.L491L(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCTCTTTCAGTTCCTCCT	0.493000													4	233					0	0	0.000602	0	0
OIP5	11339	broad.mit.edu	37	15	41624440	41624440	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:41624440G>A	ENST00000220514.3	-	1	379	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	107					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	p.S107F(1)		endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCACTCACTGGAGAAGACCAC	0.647000											OREG0023073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	0.004482	0	0
COL18A1	80781	broad.mit.edu	37	21	46908346	46908346	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr21:46908346G>T	ENST00000359759.4	+	17	3177	c.3156G>T	c.(3154-3156)ctG>ctT	p.L1052L	COL18A1_ENST00000400337.2_Silent_p.L637L|COL18A1_ENST00000355480.5_Silent_p.L817L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1052	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	p.L817L(1)		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)		CTCCCGGCCTGCCGGGACTTA	0.607000													8	129					0.000274275	0.000315879	0.004482	1	0
OAZ3	51686	broad.mit.edu	37	1	151742673	151742673	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:151742673G>A	ENST00000321531.5	+	5	537	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.E137K|OAZ3_ENST00000315067.8_Missense_Mutation_p.E124K|OAZ3_ENST00000479764.1_5'UTR			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	121					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	p.E168K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GGAGTACGTGGAAGAGAAGAC	0.517000													9	562					0	0	0.006214	0	0
AOAH	313	broad.mit.edu	37	7	36656065	36656065	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:36656065C>T	ENST00000431169.1	-	11	1067	c.767G>A	c.(766-768)gGa>gAa	p.G256E	AOAH_ENST00000535891.1_Missense_Mutation_p.G224E|AOAH_ENST00000258749.5_Missense_Mutation_p.G256E	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	256					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.G256E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAAAATGATTCCCCTGGGCTG	0.448000													4	33					0	0	0.001168	0	0
SPAG16	79582	broad.mit.edu	37	2	214354705	214354705	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:214354705G>C	ENST00000331683.5	+	10	1056	c.961G>C	c.(961-963)Gat>Cat	p.D321H	SPAG16_ENST00000374309.3_Missense_Mutation_p.D227H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	321					cilium assembly	cilium axoneme|flagellar axoneme		p.D321H(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATTTCCCATAGATATGCAACC	0.313000													10	78					0	0	0.013537	0	0
REST	5978	broad.mit.edu	37	4	57777211	57777211	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:57777211C>T	ENST00000309042.7	+	2	721	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	136					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.S136L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATTTACAGTTCAAATAAAGAT	0.473000													7	132					0	0	0.001984	0	0
PANK2	80025	broad.mit.edu	37	20	3897586	3897586	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:3897586G>C	ENST00000497424.1	+	5	863	c.552G>C	c.(550-552)atG>atC	p.M184I	PANK2_ENST00000316562.4_Missense_Mutation_p.M475I|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	475					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.M475I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGGAAACATGATGAGCAAGG	0.418000													3	55					0	0	0.004672	0	0
AGER	177	broad.mit.edu	37	6	32150922	32150922	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:32150922C>T	ENST00000375076.4	-	5	578	c.477G>A	c.(475-477)ttG>ttA	p.L159L	AGER_ENST00000375055.2_Silent_p.L159L|AGER_ENST00000438221.2_Silent_p.L175L|AGER_ENST00000375065.5_Intron|AGER_ENST00000375067.3_Silent_p.L145L|AGER_ENST00000375069.3_Silent_p.L58L|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Silent_p.L190L	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	159	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	p.L159L(1)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GCTTCCCATCCAAGTGCCAGC	0.552000													6	111					0	0	0.003080	0	0
SFXN3	81855	broad.mit.edu	37	10	102799248	102799248	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:102799248C>G	ENST00000393459.1	+	12	1345	c.872C>G	c.(871-873)tCc>tGc	p.S291C	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Missense_Mutation_p.S295C			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	295					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	p.S295C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TATTGCAGCTCCATACACATA	0.537000													9	239					0	0	0.010729	0	0
PRKCSH	5589	broad.mit.edu	37	19	11560101	11560101	+	Silent	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:11560101A>G	ENST00000252455.2	+	17	1797	c.1461A>G	c.(1459-1461)aaA>aaG	p.K487K	PRKCSH_ENST00000587327.1_Silent_p.K484K|PRKCSH_ENST00000412601.1_Silent_p.K484K|PRKCSH_ENST00000589838.1_Silent_p.K487K|PRKCSH_ENST00000591462.1_Silent_p.K484K|PRKCSH_ENST00000592741.1_Silent_p.K494K	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	487					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.K487K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TGTGCGGGAAAGAGACCATGG	0.692000													18	85					0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100683576	100683576	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:100683576C>A	ENST00000306151.4	+	3	8943	c.8879C>A	c.(8878-8880)aCc>aAc	p.T2960N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2960	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2960N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCTGTCACCACTTCTGCT	0.483000													131	236					8.93811e-64	1.14163e-63	0.014410	1	0
MKI67	4288	broad.mit.edu	37	10	129902254	129902254	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:129902254G>A	ENST00000368654.3	-	13	8225	c.7850C>T	c.(7849-7851)tCa>tTa	p.S2617L	MKI67_ENST00000368653.3_Missense_Mutation_p.S2257L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2617	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.S2617L(1)		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)				CTCAACTGCTGAGAGCTCCTC	0.507000													7	227					0	0	0.001984	0	0
ZNF514	84874	broad.mit.edu	37	2	95815686	95815686	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:95815686C>T	ENST00000295208.2	-	5	1006	c.544G>A	c.(544-546)Gat>Aat	p.D182N	ZNF514_ENST00000411425.1_Missense_Mutation_p.D182N	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D182N(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTCTGTATCACATTTATAA	0.393000													32	258					0	0	0.012213	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987712	154987712	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:154987712G>T	ENST00000368426.3	+	3	713	c.576G>T	c.(574-576)ccG>ccT	p.P192P	ZBTB7B_ENST00000535420.1_Silent_p.P192P|ZBTB7B_ENST00000417934.2_Silent_p.P226P|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Silent_p.P192P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	192	Pro-rich.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P192P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCGCCACCGCCACCTCGGC	0.657000													19	60					4.54149e-19	5.55824e-19	0.014323	1	0
GALNT8	26290	broad.mit.edu	37	12	4870202	4870202	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:4870202G>T	ENST00000252318.2	+	7	1589	c.1252G>T	c.(1252-1254)Gcc>Tcc	p.A418S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	418						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A418S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAAGCCCTACGCCTTGGATCT	0.537000													49	65					2.9001e-28	3.63621e-28	0.014410	1	0
TOPORS	10210	broad.mit.edu	37	9	32543115	32543115	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:32543115C>G	ENST00000360538.2	-	3	1524	c.1408G>C	c.(1408-1410)Gac>Cac	p.D470H	TOPORS_ENST00000379858.1_Missense_Mutation_p.D405H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	470	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.D470H(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCATCACTGTCATTATTTAGG	0.408000													9	106					0	0	0.006214	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602378	61602378	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:61602378C>T	ENST00000238508.3	+	8	1155	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.P366S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AATTAGAGTCCCATCCATTGA	0.388000													5	184					0	0	0.000602	0	0
EML2	24139	broad.mit.edu	37	19	46124837	46124837	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:46124837G>A	ENST00000536630.1	-	13	1479	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Silent_p.L300L|EML2_ENST00000589876.1_Silent_p.L300L|EML2_ENST00000587152.1_Silent_p.L501L	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	300					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.L300L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCAGGGCGCAGAGCCCAAACA	0.682000													22	27					0	0	0.003954	0	0
NKD2	85409	broad.mit.edu	37	5	1038130	1038130	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:1038130C>T	ENST00000296849.5	+	10	1227	c.998C>T	c.(997-999)tCc>tTc	p.S333F	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	333	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.S333F(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TTCCTCAAGTCCCCCAAGGGC	0.711000													5	11					0	0	0.004482	0	0
TMEM144	55314	broad.mit.edu	37	4	159161476	159161476	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:159161476C>T	ENST00000296529.6	+	10	1228	c.708C>T	c.(706-708)ttC>ttT	p.F236F	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	236						integral to membrane		p.F236F(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTGCGCACTTCAGTGGCATCT	0.343000													5	90					0	0	0.001168	0	0
GABRB3	2562	broad.mit.edu	37	15	26793029	26793029	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:26793029C>T	ENST00000541819.2	-	10	1603	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	GABRB3_ENST00000299267.4_Missense_Mutation_p.V445M|GABRB3_ENST00000311550.5_Missense_Mutation_p.V445M|GABRB3_ENST00000400188.3_Missense_Mutation_p.V374M|GABRB3_ENST00000545868.1_Missense_Mutation_p.V360M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	445					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V445M(2)|p.V501M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGCATTCACATCGGTTAGA	0.453000													44	87					0	0	0.014410	0	0
TSPAN1	10103	broad.mit.edu	37	1	46649908	46649908	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:46649908G>A	ENST00000372003.1	+	4	567	c.103G>A	c.(103-105)Gat>Aat	p.D35N	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	35						integral to membrane|lysosomal membrane		p.D35N(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GGTGTCAATCGATGGGGCATC	0.567000													17	159					0	0	0.002780	0	0
ELMO1	9844	broad.mit.edu	37	7	37136224	37136224	+	Splice_Site	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:37136224G>A	ENST00000310758.4	-	15	1947	c.1300_splice	c.e15+1	p.P434_splice	ELMO1_ENST00000442504.1_Splice_Site_p.P434_splice|ELMO1_ENST00000448602.1_Splice_Site_p.P434_splice|ELMO1_ENST00000341056.3_Splice_Site_p.P136_splice	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	434	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.P434S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTATACTTACGCAACTCGCCC	0.498000													5	94					0	0	0.000602	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171672	4171672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:4171672C>T	ENST00000602147.1	+	9	1065	c.985C>T	c.(985-987)Caa>Taa	p.Q329*	CREB3L3_ENST00000252587.3_Missense_Mutation_p.T253I|CREB3L3_ENST00000595923.1_Silent_p.H363H|CREB3L3_ENST00000602257.1_Silent_p.H362H|CREB3L3_ENST00000078445.2_Silent_p.H364H			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H364H(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACTTTGCACAACGATGCTG	0.642000													24	158					0	0	0.008361	0	0
FKBPL	63943	broad.mit.edu	37	6	32097038	32097038	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:32097038C>G	ENST00000375156.3	-	2	790	c.520G>C	c.(520-522)Gag>Cag	p.E174Q		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	174					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.E174Q(1)									AGCTGAAGCTCTGCTTCCTCA	0.572000													7	305					0	0	0.001984	0	0
SP1	6667	broad.mit.edu	37	12	53777321	53777321	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:53777321G>A	ENST00000426431.2	+	3	1629	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	SP1_ENST00000327443.4_Silent_p.Q530Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	530	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q530Q(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAGGCCTCCAGACCATTAACC	0.532000													5	177					0	0	0.001984	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44037280	44037280	+	RNA	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:44037280G>C	ENST00000381680.2	-	0	343					NR_002318.2																						AATGCTCGATGAGAGAGAAAG	0.463000													4	221					0	0	0.009096	0	0
PGBD5	79605	broad.mit.edu	37	1	230486821	230486821	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:230486821C>G	ENST00000321327.2	-	5	866	c.867G>C	c.(865-867)ctG>ctC	p.L289L	PGBD5_ENST00000391860.1_Silent_p.L144L|PGBD5_ENST00000525115.1_Silent_p.L190L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	190						integral to membrane		p.L289L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCTCATCGATCAGGGGTTCAT	0.522000													7	78					0	0	0.004482	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357089	104357089	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:104357089T>A	ENST00000374806.1	-	1	194	c.124A>T	c.(124-126)Agc>Tgc	p.S42C	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	39	EF-hand 1.						calcium ion binding	p.S42C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TCCTCCACGCTCAGAGACCCT	0.547000													63	98					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764427	77764427	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:77764427C>A	ENST00000521891.2	+	10	5718	c.5270C>A	c.(5269-5271)cCa>cAa	p.P1757Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1712Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1731Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1712Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1712	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1757Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGGCTTGCCAGGCTCTGCC	0.512000										HNSCC(33;0.089)			21	39					2.39556e-15	2.91449e-15	0.002780	1	0
USH2A	7399	broad.mit.edu	37	1	215848324	215848324	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:215848324C>A	ENST00000366943.2	-	63	13315	c.12929G>T	c.(12928-12930)aGc>aTc	p.S4310I	USH2A_ENST00000307340.3_Missense_Mutation_p.S4310I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4310	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4310I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGATCAAAGCTAAAAGGATA	0.438000										HNSCC(13;0.011)			95	86					6.1132e-60	7.78389e-60	0.014410	1	0
JADE1	79960	broad.mit.edu	37	4	129792527	129792527	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:129792527T>C	ENST00000226319.6	+	11	1919	c.1639T>C	c.(1639-1641)Tcc>Ccc	p.S547P	PHF17_ENST00000452328.2_Missense_Mutation_p.S535P|PHF17_ENST00000512960.1_Missense_Mutation_p.S547P	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		547	Poly-Ser.				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	p.S547P(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTCTTCCTGCTCCTCCTCCTC	0.413000													8	352					0	0	0.003080	0	0
LRRN4	164312	broad.mit.edu	37	20	6022399	6022399	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:6022399G>C	ENST00000378858.4	-	5	1716	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	498						integral to membrane		p.Q498E(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGGGCTGAGGCGAGCTT	0.632000													8	209					0	0	0.006214	0	0
ARSG	22901	broad.mit.edu	37	17	66364735	66364735	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:66364735C>T	ENST00000448504.2	+	7	1547	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.H87Y	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	251					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	p.H251Y(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCCACATGCACGTGCCCTT	0.602000													6	143					0	0	0.003080	0	0
IRF8	3394	broad.mit.edu	37	16	85942710	85942710	+	Missense_Mutation	SNP	G	G	A	rs34712374		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:85942710G>A	ENST00000268638.5	+	3	711	c.289G>A	c.(289-291)Gac>Aac	p.D97N	IRF8_ENST00000563180.1_Missense_Mutation_p.D97N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	97					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.D97N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGTGACGGACCGGTCCCA	0.453000													25	44					0	0	0.004656	0	0
VPS11	55823	broad.mit.edu	37	11	118948942	118948942	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:118948942C>T	ENST00000300793.6	+	12	1860	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	607					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	p.F606F(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGAAAGCCTTCCTAGAGCACA	0.552000													9	267					0	0	0.008291	0	0
GCNT3	9245	broad.mit.edu	37	15	59910672	59910672	+	Missense_Mutation	SNP	G	G	C	rs143474619		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:59910672G>C	ENST00000396065.1	+	3	683	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	GCNT3_ENST00000560585.1_Missense_Mutation_p.E79Q	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	79					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.E79Q(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGGGACCAAGAGGCAGTGCT	0.488000													7	242					0	0	0.001984	0	0
TMEM123	114908	broad.mit.edu	37	11	102272716	102272716	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:102272716G>C	ENST00000398136.2	-	3	799	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	TMEM123_ENST00000532161.1_Missense_Mutation_p.Q39E|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.Q108E	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	127	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity	p.Q127E(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTTGATATCTGAGATGTGTTC	0.388000													15	284					0	0	0.003163	0	0
FBXL6	26233	broad.mit.edu	37	8	145581359	145581359	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:145581359G>A	ENST00000331890.5	-	2	568	c.504C>T	c.(502-504)ggC>ggT	p.G168G	FBXL6_ENST00000455319.2_Silent_p.G168G	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	168					proteolysis		ubiquitin-protein ligase activity	p.G168G(1)		endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGCAGGCCGGCCGACCAGCG	0.687000													10	50					0	0	0.010729	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64148775	64148775	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:64148775C>T	ENST00000295902.6	-	3	760	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E115K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	59	PET.					cytoplasm|nuclear membrane	zinc ion binding	p.E59K(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGACTTTCTCTTCTGGGAGA	0.488000													12	275					0	0	0.010729	0	0
UGDH	7358	broad.mit.edu	37	4	39505518	39505518	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:39505518C>T	ENST00000316423.6	-	11	1693	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	UGDH_ENST00000507089.1_Missense_Mutation_p.E354K|UGDH_ENST00000506179.1_Missense_Mutation_p.E451K|UGDH_ENST00000501493.2_Missense_Mutation_p.E384K	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	451					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.E451K(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GTTTGTAGTTCATTGTGGAGC	0.388000													4	86					0	0	0.001168	0	0
ACSM1	116285	broad.mit.edu	37	16	20638525	20638525	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:20638525G>A	ENST00000219151.4	-	11	1576	c.366C>T	c.(364-366)atC>atT	p.I122I	ACSM1_ENST00000520010.1_Silent_p.I471I|ACSM1_ENST00000307493.4_Silent_p.I471I			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	471					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.I122I(1)|p.I471I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGCATTAATGATGTCATCAC	0.488000													9	416					0	0	0.004482	0	0
PARD3B	117583	broad.mit.edu	37	2	206023445	206023445	+	Splice_Site	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:206023445G>C	ENST00000406610.2	+	11	1641		c.e11-1		PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction		p.?(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCCCCTAACAGAAAGGAGAAC	0.478000													4	167					0	0	0.000602	0	0
FNTA	2339	broad.mit.edu	37	8	42919285	42919285	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:42919285G>C	ENST00000302279.3	+	3	522	c.328G>C	c.(328-330)Gat>Cat	p.D110H	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D67H|FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	110					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	p.D110H(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTGCAGCGTGATGAAAGAAG	0.383000													6	239					0	0	0.001168	0	0
ACE	1636	broad.mit.edu	37	17	61574336	61574336	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:61574336G>T	ENST00000577647.1	+	13	2004	c.1959G>T	c.(1957-1959)acG>acT	p.T653T	ACE_ENST00000490216.2_Silent_p.T653T|ACE_ENST00000428043.1_Intron|ACE_ENST00000413513.3_Silent_p.T612T|ACE_ENST00000290866.4_Silent_p.T1227T|ACE_ENST00000421982.2_Silent_p.T432T|ACE_ENST00000290863.6_Silent_p.T653T			P12821	ACE_HUMAN	angiotensin I converting enzyme	1227	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.T653T(1)|p.T1227T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACAACTGGACGCCGAACTCCG	0.672000													5	6					7.48243e-07	8.81551e-07	0.006214	1	0
SETD4	54093	broad.mit.edu	37	21	37420692	37420692	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr21:37420692C>G	ENST00000399215.1	-	4	1582	c.210G>C	c.(208-210)gaG>gaC	p.E70D	SETD4_ENST00000399201.1_Missense_Mutation_p.E46D|SETD4_ENST00000399205.1_Missense_Mutation_p.E46D|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399208.2_Missense_Mutation_p.E70D|SETD4_ENST00000332131.4_Missense_Mutation_p.E70D|SETD4_ENST00000399212.1_Missense_Mutation_p.E46D|SETD4_ENST00000399207.1_Missense_Mutation_p.E70D			Q9NVD3	SETD4_HUMAN	SET domain containing 4	70	SET.							p.E70D(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCATCTGTCCCTCCTGGCCAA	0.473000													139	229					0	0	0.014410	0	0
NID1	4811	broad.mit.edu	37	1	236144994	236144994	+	Silent	SNP	C	C	T	rs148662892	byFrequency	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:236144994C>T	ENST00000264187.6	-	16	3226	c.3144G>A	c.(3142-3144)gcG>gcA	p.A1048A	NID1_ENST00000366595.3_Silent_p.A915A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1048					cell-matrix adhesion	basement membrane	calcium ion binding	p.A1048A(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGTCCAGCTTCGCCACTTCTA	0.498000													5	151					0	0	0.001168	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													3	65					0	0	0.003080	0	0
EPB41L5	57669	broad.mit.edu	37	2	120900596	120900596	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:120900596G>C	ENST00000263713.5	+	19	1831	c.1617G>C	c.(1615-1617)ttG>ttC	p.L539F	EPB41L5_ENST00000452780.1_Missense_Mutation_p.L539F|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L539F	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	539						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.L539F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGGTGAAGTTGACTGAGAAAT	0.348000													4	107					0	0	0.009096	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685236	125685236	+	Silent	SNP	T	T	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chrX:125685236T>G	ENST00000371126.1	-	1	1598	c.1356A>C	c.(1354-1356)gcA>gcC	p.A452A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	452								p.A452A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATGGAGGCCTGCAGGGAGAG	0.547000													4	65					0	0	0.000602	0	0
LRRC42	115353	broad.mit.edu	37	1	54418039	54418039	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:54418039G>A	ENST00000371370.3	+	3	888	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E123K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	123								p.E123K(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTCTGCTGCTGAAGCCAGACA	0.493000													4	112					0	0	0.009096	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684050	33684050	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:33684050C>T	ENST00000504830.1	-	4	1080	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E249K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E249K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCAGTGTCTCCACCCATCTC	0.527000										HNSCC(64;0.19)			12	76					0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45846542	45846542	+	Splice_Site	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr21:45846542G>C	ENST00000397928.1	+	26	4240		c.e26-1		TRPM2_ENST00000300482.5_Splice_Site|TRPM2_ENST00000300481.9_Splice_Site|TRPM2_ENST00000397932.2_Splice_Site|TRPM2_ENST00000498430.1_Splice_Site	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2							integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTTTGCGACAGACGGAGTTCC	0.587000													3	153					0	0	0.009096	0	0
ZNF256	10172	broad.mit.edu	37	19	58455413	58455413	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:58455413C>G	ENST00000282308.3	-	2	245	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ZNF256_ENST00000598928.1_Intron	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	17	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E17Q(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GCCACGTCCTCAAAGGTCACA	0.507000													4	59					0	0	0.009096	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798482	55798482	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:55798482G>T	ENST00000313555.1	+	1	588	c.588G>T	c.(586-588)caG>caT	p.Q196H		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q196H(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGATCAACCAGCTTCTGCTCT	0.413000													165	325					4.72421e-73	6.05289e-73	0.014410	1	0
MYLK4	340156	broad.mit.edu	37	6	2685595	2685595	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:2685595G>A	ENST00000274643.7	-	6	822	c.480C>T	c.(478-480)caC>caT	p.H160H	MYLK4_ENST00000268446.5_Silent_p.H160H	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	160	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.H160H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGAGGTTCGCGTGGTCCAGCT	0.577000													106	175					0	0	0.014410	0	0
SLC4A2	6522	broad.mit.edu	37	7	150773144	150773144	+	Silent	SNP	C	C	G	rs150666646		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:150773144C>G	ENST00000485713.1	+	22	4556	c.3516C>G	c.(3514-3516)ctC>ctG	p.L1172L	SLC4A2_ENST00000413384.2_Silent_p.L1172L|SLC4A2_ENST00000461735.1_Silent_p.L1158L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.L1090L|SLC4A2_ENST00000392826.2_Silent_p.L1163L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1172	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.L1172L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGCTGCTCTGCCTGGCCC	0.667000													4	102					0	0	0.009096	0	0
IL16	3603	broad.mit.edu	37	15	81592196	81592196	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:81592196C>T	ENST00000394660.2	+	14	2889	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_Silent_p.I843I|IL16_ENST00000394652.2_Silent_p.I142I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	843					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.I843I(1)|p.I797I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCAGAGAATCAGCTCCTTTG	0.592000													5	56					0	0	0.000602	0	0
SPICE1	152185	broad.mit.edu	37	3	113225439	113225439	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:113225439C>T	ENST00000295872.4	-	2	273	c.14G>A	c.(13-15)aGa>aAa	p.R5K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	5					cell division|mitosis	centriole|spindle	protein binding	p.R5K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GCGGTTCACTCTGACAAATGA	0.378000													4	37					0	0	0.000602	0	0
TRIP13	9319	broad.mit.edu	37	5	895027	895027	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:895027T>C	ENST00000166345.3	+	2	574	c.218T>C	c.(217-219)gTg>gCg	p.V73A		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	73					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.V73A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GTGCAGTCTGTGTCTATTATT	0.368000													33	88					0	0	0.003271	0	0
IGFL2	147920	broad.mit.edu	37	19	46652280	46652280	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:46652280C>A	ENST00000434646.2	+	2	329	c.38C>A	c.(37-39)cCc>cAc	p.P13H	IGFL2_ENST00000600243.1_Intron|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Intron	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	0						extracellular region	protein binding	p.P13H(1)		cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		ACCGACTACCCCAGGAGTGTG	0.542000													5	11					2.0095e-06	2.34728e-06	0.001984	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101441201	101441201	+	RNA	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:101441201G>A	ENST00000554693.2	+	0	462				SNORD114-17_ENST00000364699.1_RNA																							ATATGTGTCTGAAACTCTGAG	0.373000													4	67					0	0	0.000602	0	0
GNAQ	2776	broad.mit.edu	37	9	80430572	80430572	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:80430572C>G	ENST00000286548.4	-	3	658	c.436G>C	c.(436-438)Gat>Cat	p.D146H	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	146					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.D146H(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CGTCGTCTATCATAGCATTCC	0.388000			Mis		uveal melanoma								3	49					0	0	0.009096	0	0
DDIT3	1649	broad.mit.edu	37	12	57910715	57910715	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:57910715C>G	ENST00000551116.1	-	4	723	c.456G>C	c.(454-456)agG>agC	p.R152S	DDIT3_ENST00000346473.3_Missense_Mutation_p.R129S|DDIT3_ENST00000552740.1_Missense_Mutation_p.R152S|DDIT3_ENST00000547303.1_Missense_Mutation_p.R129S	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	129					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.R129S(1)|p.R129R(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GTGCCACTTTCCTTTCATTCT	0.542000			T	FUS	liposarcoma								4	272					0	0	0.009096	0	0
BRCA2	675	broad.mit.edu	37	13	32913027	32913027	+	Missense_Mutation	SNP	G	G	A	rs80358685		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:32913027G>A	ENST00000544455.1	+	11	4762	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	BRCA2_ENST00000380152.3_Missense_Mutation_p.R1512H	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1512					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.R1512H(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACCCGAACGTGATGAAAAG	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	58					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179650595	179650595	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:179650595C>T	ENST00000589042.1	-	14	2574	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	TTN_ENST00000591111.1_Missense_Mutation_p.G784R|TTN_ENST00000360870.5_Missense_Mutation_p.G784R|TTN_ENST00000359218.5_Missense_Mutation_p.G738R|TTN_ENST00000342175.6_Missense_Mutation_p.G738R|TTN_ENST00000460472.2_Missense_Mutation_p.G738R|TTN_ENST00000342992.6_Missense_Mutation_p.G784R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	784							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G784R(3)|p.G738R(3)		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)			ATGTGCATTCCCTTTTGATCA	0.463000													24	66					0	0	0.004656	0	0
FBXO5	26271	broad.mit.edu	37	6	153296529	153296529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:153296529C>T	ENST00000367241.3	-	2	573	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	FBXO5_ENST00000229758.3_Missense_Mutation_p.E111K	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.E111K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CGCTTGCTTTCAGTTTCAAGT	0.383000													15	104					0	0	0.004007	0	0
ATF6	22926	broad.mit.edu	37	1	161736217	161736217	+	Missense_Mutation	SNP	C	C	G	rs149825732		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:161736217C>G	ENST00000367942.3	+	1	134	c.67C>G	c.(67-69)Ctg>Gtg	p.L23V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	23	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.L23V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CTTTCACAGGCTGGATGAAGA	0.567000													12	111					0	0	0.010729	0	0
FOXK2	3607	broad.mit.edu	37	17	80542037	80542037	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:80542037G>A	ENST00000335255.5	+	6	1426	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	418					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.E418K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGTCATCCAGGAAGCCCGGTT	0.682000													3	22					0	0	0.004672	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301556	38301556	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:38301556C>T	ENST00000260630.3	-	2	1377	c.976G>A	c.(976-978)Gac>Aac	p.D326N	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.D326N	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	326					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.D326N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	CCGAAGATGTCAGTGATAGTG	0.632000													5	12					0	0	0.003080	0	0
KLHL5	51088	broad.mit.edu	37	4	39082722	39082722	+	Splice_Site	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:39082722G>C	ENST00000261425.3	+	4	718		c.e4-1		KLHL5_ENST00000359687.2_Splice_Site|KLHL5_ENST00000381930.3_Splice_Site|KLHL5_ENST00000504108.1_Splice_Site|KLHL5_ENST00000261426.5_Splice_Site|KLHL5_ENST00000508137.2_Splice_Site	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5							cytoplasm|cytoskeleton	actin binding	p.?(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGTGTTCACAGATTGGTGCTC	0.363000													5	141					0	0	0.000602	0	0
FAM65C	140876	broad.mit.edu	37	20	49209728	49209728	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:49209728G>C	ENST00000327979.2	-	18	2617	c.2206C>G	c.(2206-2208)Cgc>Ggc	p.R736G	FAM65C_ENST00000045083.2_Missense_Mutation_p.R736G|FAM65C_ENST00000535356.1_Missense_Mutation_p.R740G			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	736								p.R736G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGCCTGCGGCACGCTGGC	0.587000													18	37					0	0	0.004656	0	0
MYOCD	93649	broad.mit.edu	37	17	12655756	12655756	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:12655756G>A	ENST00000425538.1	+	10	1351	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	MYOCD_ENST00000395988.1_Missense_Mutation_p.R288Q|MYOCD_ENST00000343344.4_Missense_Mutation_p.R384Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R384Q(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACAGCTTCGAATTCGGGGC	0.453000													12	64					0	0	0.002450	0	0
OR4D9	390199	broad.mit.edu	37	11	59282631	59282631	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:59282631G>A	ENST00000329328.3	+	1	246	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTAAGGTCCTGATAGATCTTC	0.463000													7	197					0	0	0.001984	0	0
ABCC4	10257	broad.mit.edu	37	13	95735399	95735399	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:95735399G>C	ENST00000376887.4	-	21	2795	c.2681C>G	c.(2680-2682)tCt>tGt	p.S894C	ABCC4_ENST00000412704.1_Missense_Mutation_p.S847C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	894	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.S894C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTCACTTGTAGATTCCAGGCG	0.428000													4	125					0	0	0.000602	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112015721	112015721	+	Splice_Site	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:112015721C>G	ENST00000374566.3	-	12	1796	c.1279_splice	c.e12+1	p.A427_splice	EPB41L4B_ENST00000374557.4_Splice_Site_p.A427_splice	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	427						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.A427P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACACACAACCTTTGAACGTT	0.428000													18	111					0	0	0.008871	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009128	61009128	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:61009128G>A	ENST00000238714.3	+	11	1264	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	339					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.E339K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AATGGTAGAAGAATTTAAACA	0.403000													4	133					0	0	0.009096	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574884	60574884	+	Silent	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:60574884A>G	ENST00000406854.1	+	2	1082	c.528A>G	c.(526-528)ctA>ctG	p.L176L	PCNXL4_ENST00000391611.2_Silent_p.L176L|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Silent_p.L176L					pecanex-like 4 (Drosophila)									p.L176L(1)									CTGCTCTACTATTCTTCTTTG	0.398000													3	119					0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21923947	21923947	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:21923947C>T	ENST00000328843.6	+	77	12478	c.12447C>T	c.(12445-12447)atC>atT	p.I4149I	DNAH11_ENST00000409508.3_Silent_p.I4142I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4149					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I4149I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGGTGAGATCATGTATGGAG	0.448000									Kartagener syndrome				11	74					0	0	0.013537	0	0
INSR	3643	broad.mit.edu	37	19	7125477	7125477	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:7125477G>T	ENST00000341500.5	-	16	3078	c.3039C>A	c.(3037-3039)ctC>ctA	p.L1013L	INSR_ENST00000302850.5_Silent_p.L1025L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1025					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.L1025L(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCTCGAAGGAGGGTGATCT	0.572000													8	69					7.48243e-07	8.81551e-07	0.006214	1	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139578	42139578	+	Missense_Mutation	SNP	C	C	T	rs145043086		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:42139578C>T	ENST00000382448.4	+	24	2693	c.2684C>T	c.(2683-2685)cCg>cTg	p.P895L	JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.P664L|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.P664L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		664					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.P895L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CAGGGGATCCCGTTCCCACCC	0.687000													50	129					0	0	0.014410	0	0
SRGAP3	9901	broad.mit.edu	37	3	9101977	9101977	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:9101977G>C	ENST00000383836.3	-	6	1166	c.739C>G	c.(739-741)Ctg>Gtg	p.L247V	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.L247V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	247					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.L247V(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTGGCTGCCAGATTGAGCAAG	0.502000			T	RAF1	pilocytic astrocytoma								5	138					0	0	0.001984	0	0
KANSL3	55683	broad.mit.edu	37	2	97275266	97275266	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:97275266C>G	ENST00000599854.1	-	12	1559	c.1092G>C	c.(1090-1092)ttG>ttC	p.L364F	KANSL3_ENST00000441706.2_Missense_Mutation_p.L364F|KANSL3_ENST00000431828.1_Missense_Mutation_p.L451F|KANSL3_ENST00000440133.1_Missense_Mutation_p.L245F|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	451								p.L451F(1)									TGCTCTGAGTCAACCCTTCTG	0.383000													5	435					0	0	0.001984	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887308	32887308	+	RNA	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:32887308C>T	ENST00000399070.3	+	0	1702					NR_024565.1|NR_024566.1													p.I240I(1)		large_intestine(3)|lung(9)	12						TATTCTTCATCAGAGAATTCA	0.408000													6	109					0	0	0.001984	0	0
FLOT1	10211	broad.mit.edu	37	6	30708997	30708997	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:30708997C>T	ENST00000376389.3	-	5	544	c.324G>A	c.(322-324)caG>caA	p.Q108Q	FLOT1_ENST00000456573.2_Intron|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	108						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		p.Q108Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TGATGGCCCTCTGGTGGCCCT	0.597000													8	111					0	0	0.003080	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025029	176025029	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:176025029C>T	ENST00000303991.4	-	2	1984	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	603						growth cone|plasma membrane		p.E603K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTTTCCCTCTGGGATAGCT	0.572000													16	80					0	0	0.004007	0	0
NEMF	9147	broad.mit.edu	37	14	50267175	50267175	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:50267175C>G	ENST00000298310.5	-	23	2784	c.2335G>C	c.(2335-2337)Gat>Cat	p.D779H	NEMF_ENST00000545773.1_Missense_Mutation_p.D737H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.D758H			O60524	NEMF_HUMAN	nuclear export mediator factor	779						cytoplasm|nucleus		p.D779H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATGGTAGTATCAGGATAATTT	0.348000													3	105					0	0	0.004672	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729134	3729134	+	Splice_Site	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:3729134C>A	ENST00000315677.3	-	7	2187		c.e7+1		DLGAP1_ENST00000400145.2_Splice_Site|DLGAP1_ENST00000400149.3_Splice_Site|DLGAP1_ENST00000478161.1_Splice_Site|DLGAP1_ENST00000534970.1_Splice_Site|DLGAP1_ENST00000400155.1_Splice_Site|DLGAP1_ENST00000581699.1_Splice_Site|DLGAP1_ENST00000400150.3_Splice_Site|DLGAP1_ENST00000400147.2_Splice_Site|DLGAP1_ENST00000581527.1_Splice_Site|DLGAP1_ENST00000584874.1_Splice_Site|DLGAP1_ENST00000539435.1_Splice_Site|DLGAP1_ENST00000515196.2_Splice_Site	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.?(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCGCACTCACCCGTGCTGCT	0.637000													17	15					3.41278e-10	4.07942e-10	0.004990	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413013	105413013	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr14:105413013C>T	ENST00000333244.5	-	7	8894	c.8775G>A	c.(8773-8775)ctG>ctA	p.L2925L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2925						nucleus		p.L2925L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.632000													16	388					0	0	0.004007	0	0
STK11	6794	broad.mit.edu	37	19	1220449	1220449	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:1220449A>T	ENST00000326873.7	+	4	1715	c.542A>T	c.(541-543)aAc>aTc	p.N181I		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	181	Protein kinase.		N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.N181I(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCGGGGAACCTGCTGCTC	0.662000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	4					0	0	0.004672	0	0
KIAA1841	84542	broad.mit.edu	37	2	61298824	61298824	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:61298824G>C	ENST00000402291.1	+	4	475	c.234G>C	c.(232-234)gaG>gaC	p.E78D	KIAA1841_ENST00000453873.1_Missense_Mutation_p.E78D|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E78D|KIAA1841_ENST00000356719.2_Missense_Mutation_p.E78D|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	78								p.E78D(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTGCTGGAGAGAGTCCTGTTG	0.393000													3	129					0	0	0.009096	0	0
CNOT1	23019	broad.mit.edu	37	16	58619324	58619324	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:58619324C>G	ENST00000317147.5	-	8	1056	c.724G>C	c.(724-726)Gat>Cat	p.D242H	CNOT1_ENST00000441024.2_Missense_Mutation_p.D242H|CNOT1_ENST00000569240.1_Missense_Mutation_p.D242H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	242					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.D242H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTCCGGAATCAGGCAGGATC	0.468000													4	183					0	0	0.009096	0	0
GPR124	25960	broad.mit.edu	37	8	37689071	37689071	+	Missense_Mutation	SNP	G	G	A	rs148701575	byFrequency	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:37689071G>A	ENST00000315215.7	+	8	1426	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	GPR124_ENST00000412232.2_Missense_Mutation_p.A355T			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	355					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A348T(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTACTGCCCCGCCGAGCGTGT	0.652000													17	20					0	0	0.007413	0	0
RDH8	50700	broad.mit.edu	37	19	10132255	10132255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:10132255C>T	ENST00000591589.1	+	6	1015	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	RDH8_ENST00000171214.1_Nonsense_Mutation_p.Q256*			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	256					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.Q256*(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTGCGCCGACAGACCAACAT	0.637000													12	14					0	0	0.004007	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908350	48908350	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:48908350G>A	ENST00000263269.3	+	3	913	c.825G>A	c.(823-825)gtG>gtA	p.V275V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	275						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.V275V(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGTTCATGGTGGGGCCCCAGC	0.706000													4	15					0	0	0.009096	0	0
RBBP6	5930	broad.mit.edu	37	16	24581790	24581790	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:24581790G>T	ENST00000319715.4	+	17	4211	c.3779G>T	c.(3778-3780)gGa>gTa	p.G1260V	RBBP6_ENST00000348022.2_Missense_Mutation_p.G1226V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1260					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G1260V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAACTGAAGGATCCAGCTCA	0.423000													24	39					6.32553e-13	7.67298e-13	0.004656	1	0
KCNK2	3776	broad.mit.edu	37	1	215259970	215259970	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:215259970C>G	ENST00000444842.2	+	2	456	c.306C>G	c.(304-306)ttC>ttG	p.F102L	KCNK2_ENST00000391894.2_Missense_Mutation_p.F87L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F98L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	102							outward rectifier potassium channel activity	p.F87L(1)|p.F102L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGCAAACATTCATATCCCAAC	0.463000													15	262					0	0	0.003163	0	0
GPRC5A	9052	broad.mit.edu	37	12	13065462	13065462	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:13065462G>C	ENST00000014914.5	+	4	1953	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	GPRC5A_ENST00000542056.1_3'UTR	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	355						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	p.E355Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	AGTAAAGAAAGAGGGCAGCTA	0.527000													4	170					0	0	0.000602	0	0
OR2H1	26716	broad.mit.edu	37	6	29430097	29430097	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:29430097G>C	ENST00000377136.1	+	4	1016	c.551G>C	c.(550-552)cGa>cCa	p.R184P	OR2H1_ENST00000377133.1_Missense_Mutation_p.R184P|OR2H1_ENST00000377132.1_Missense_Mutation_p.R184P|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.R184P|OR2H1_ENST00000396792.2_Missense_Mutation_p.R184P			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	184				R -> G (in Ref. 6; AAC00188).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184P(1)		large_intestine(5)|lung(12)	17						TCTCTGATTCGACTCTCCTGT	0.502000													8	297					0	0	0.004482	0	0
UBAP1	51271	broad.mit.edu	37	9	34242054	34242054	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:34242054C>G	ENST00000536252.1	+	5	1429	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C	UBAP1_ENST00000379186.4_Missense_Mutation_p.S344C|UBAP1_ENST00000543944.1_Missense_Mutation_p.S380C|UBAP1_ENST00000540348.1_Missense_Mutation_p.S344C|UBAP1_ENST00000359544.2_Missense_Mutation_p.S344C|UBAP1_ENST00000545103.1_Missense_Mutation_p.S408C|UBAP1_ENST00000297661.4_Missense_Mutation_p.S344C	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	344						cytoplasm		p.S408C(1)|p.S344C(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCTTCCCTCTCTGTTTTGTCT	0.507000													5	158					0	0	0.001984	0	0
MRPS16	51021	broad.mit.edu	37	10	75010727	75010727	+	Silent	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:75010727C>A	ENST00000372945.3	-	3	507	c.297G>T	c.(295-297)ctG>ctT	p.L99L	MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Intron|MRPS16_ENST00000416782.2_Intron|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	99					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.L99L(1)		large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TCATAGGATGCAGAGGGAAAA	0.428000													59	113					7.92265e-33	9.96407e-33	0.014410	1	0
MYO18B	84700	broad.mit.edu	37	22	26317265	26317265	+	Silent	SNP	A	A	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:26317265A>G	ENST00000335473.7	+	34	5656	c.5406A>G	c.(5404-5406)agA>agG	p.R1802R	MYO18B_ENST00000407587.2_Silent_p.R1803R|MYO18B_ENST00000536101.1_Silent_p.R1802R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1802	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.R1803R(1)		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						GACTTCGGAGAGACCTCAGGA	0.547000													2	8					0	0	0.004672	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487540	158487540	+	Silent	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:158487540C>A	ENST00000355585.4	+	12	1665	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	SYNJ2_ENST00000367121.3_Silent_p.I530I|SYNJ2_ENST00000367122.2_Silent_p.I530I|SYNJ2_ENST00000449859.2_Silent_p.I458I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	530							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.I530I(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCAAGCGGATCCGGATTGCTA	0.547000													13	153					9.05144e-12	1.0915e-11	0.001855	1	0
PIGL	9487	broad.mit.edu	37	17	16220083	16220083	+	Nonstop_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:16220083T>C	ENST00000498772.2	+	5	600	c.583T>C	c.(583-585)Tga>Cga	p.*195R	PIGL_ENST00000225609.5_Intron|PIGL_ENST00000395844.3_Intron|PIGL_ENST00000581006.1_Intron			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	0					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGAAACTTATGAGGGGGAAA	0.542000													17	38					0	0	0.006122	0	0
ACSS2	55902	broad.mit.edu	37	20	33508916	33508916	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:33508916G>A	ENST00000360596.2	+	10	1462	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	ACSS2_ENST00000336325.4_Missense_Mutation_p.M367I|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.M430I	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	417					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	p.M417I(1)|p.M430I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCTGCTCATGAAGTTTGGAG	0.537000													9	310					0	0	0.008291	0	0
RPL8	6132	broad.mit.edu	37	8	146015223	146015223	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:146015223C>A	ENST00000262584.3	-	6	972	c.740G>T	c.(739-741)cGg>cTg	p.R247L	RPL8_ENST00000528957.1_Missense_Mutation_p.R247L|RPL8_ENST00000527914.1_Missense_Mutation_p.R138L|RPL8_ENST00000394920.2_Missense_Mutation_p.R247L|RPL8_ENST00000529163.1_5'UTR	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	247					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	p.R247L(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CTTGGTTCCCCGGAGACGTCC	0.587000													10	593					0.00829132	0.00933912	0.008291	1	0
CENPL	91687	broad.mit.edu	37	1	173780416	173780416	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:173780416C>G	ENST00000356198.2	-	3	307	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	CENPL_ENST00000367710.3_Missense_Mutation_p.E8Q|CENPL_ENST00000345664.6_Missense_Mutation_p.E8Q	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	8					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		p.E8Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTTGACTCTGGTGCACTG	0.398000													4	193					0	0	0.009096	0	0
RNF130	55819	broad.mit.edu	37	5	179407141	179407141	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:179407141C>A	ENST00000522208.2	-	4	771	c.753G>T	c.(751-753)aaG>aaT	p.K251N	RNF130_ENST00000521389.1_Missense_Mutation_p.K251N|RNF130_ENST00000261947.4_Missense_Mutation_p.K251N			Q86XS8	GOLI_HUMAN	ring finger protein 130	251					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.K251N(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCACCCTTCTTTACTGTCC	0.398000													6	173					2.0095e-06	2.34728e-06	0.001984	1	0
SPEG	10290	broad.mit.edu	37	2	220344819	220344819	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:220344819G>C	ENST00000312358.7	+	25	5431	c.5299G>C	c.(5299-5301)Gag>Cag	p.E1767Q	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1767	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.E1767Q(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGTAGCACCCGAGATTGTCAA	0.607000													6	105					0	0	0.001984	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974845	29974845	+	RNA	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:29974845G>C	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							AGAGCGAGGCGGGTGAGTGAC	0.667000													3	14					0	0	0.001168	0	0
EIF5B	9669	broad.mit.edu	37	2	99980189	99980189	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:99980189A>C	ENST00000289371.5	+	5	1203	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	334					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.K334T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gagaagaaaaaaggaCCTAGC	0.353000													24	29					0	0	0.003954	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629008	51629008	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:51629008C>T	ENST00000440804.3	+	2	643	c.576C>T	c.(574-576)acC>acT	p.T192T	SIGLEC9_ENST00000250360.3_Silent_p.T192T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	192	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.T192T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCTCCACCACCCGCTCCT	0.657000													47	55					0	0	0.014410	0	0
TIGD4	201798	broad.mit.edu	37	4	153691681	153691681	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:153691681G>A	ENST00000304337.2	-	2	1296	c.476C>T	c.(475-477)tCg>tTg	p.S159L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	159					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.S159L(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCAGACAGTCGAAGGGTCTAC	0.358000													6	67					0	0	0.001168	0	0
OR13C8	138802	broad.mit.edu	37	9	107332126	107332126	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:107332126G>A	ENST00000335040.1	+	1	678	c.678G>A	c.(676-678)ctG>ctA	p.L226L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L226L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCACTATTCTGAGGATTCCTT	0.398000													7	142					0	0	0.001984	0	0
MIER2	54531	broad.mit.edu	37	19	326574	326574	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:326574C>G	ENST00000264819.4	-	6	528	c.518G>C	c.(517-519)aGa>aCa	p.R173T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R173T(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GCCAGGCTCTCTGTCTTCATC	0.562000													6	95					0	0	0.001168	0	0
BPHL	670	broad.mit.edu	37	6	3119649	3119649	+	Translation_Start_Site	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:3119649C>A	ENST00000380368.2	+	0	603				BPHL_ENST00000380375.3_De_novo_Start_OutOfFrame|BPHL_ENST00000434640.1_De_novo_Start_OutOfFrame|BPHL_ENST00000380379.5_Intron			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				aattcagaatcctgggcctca	0.478000													20	29					4.96729e-08	5.92032e-08	0.008871	1	0
ATP6V1A	523	broad.mit.edu	37	3	113528247	113528247	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:113528247G>C	ENST00000273398.3	+	15	1935	c.1827G>C	c.(1825-1827)caG>caC	p.Q609H	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Q576H	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	609					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.Q609Q(1)|p.Q609H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGACATGCAGAATGCATTCC	0.393000													9	93					0	0	0.010729	0	0
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:119245037G>C	ENST00000316316.6	-	3	846	c.560C>G	c.(559-561)tCa>tGa	p.S187*	MCM9_ENST00000316068.3_Nonsense_Mutation_p.S187*	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.S187*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418000													3	115					0	0	0.004672	0	0
NPR2	4882	broad.mit.edu	37	9	35794089	35794089	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:35794089G>C	ENST00000342694.2	+	2	1117	c.862G>C	c.(862-864)Gag>Cag	p.E288Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	288					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.E288Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ggccctcagagaggcctttca	0.577000													3	40					0	0	0.004672	0	0
RFX5	5993	broad.mit.edu	37	1	151316755	151316755	+	Splice_Site	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:151316755C>G	ENST00000290524.4	-	8	652		c.e8-1		RFX5_ENST00000452671.2_Splice_Site|RFX5_ENST00000368870.2_Splice_Site|RFX5_ENST00000452513.2_Splice_Site	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)							nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGCAATATCTGATGCAAGT	0.498000													3	119					0	0	0.004672	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64128005	64128005	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:64128005G>A	ENST00000528057.1	+	4	491	c.403G>A	c.(403-405)Gag>Aag	p.E135K	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E135K|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.E135K	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	135	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	p.E135K(2)		breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTACTTCAAGGAGGCTGAGGT	0.612000													4	13					0	0	0.001168	0	0
ATP11A	23250	broad.mit.edu	37	13	113514624	113514624	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:113514624G>A	ENST00000487903.1	+	24	2839	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L	ATP11A_ENST00000375630.2_Silent_p.L917L|ATP11A_ENST00000375645.3_Silent_p.L917L|ATP11A_ENST00000283558.8_Silent_p.L917L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	917					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L917L(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCGCGTATCTGACCCTCTACA	0.468000													6	194					0	0	0.001984	0	0
PLTP	5360	broad.mit.edu	37	20	44539798	44539798	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:44539798T>C	ENST00000477313.1	-	2	787	c.193A>G	c.(193-195)Atc>Gtc	p.I65V	PLTP_ENST00000354050.4_Missense_Mutation_p.I65V|PLTP_ENST00000420868.2_Missense_Mutation_p.I65V|PLTP_ENST00000542937.1_Missense_Mutation_p.I85V|PLTP_ENST00000372431.3_Missense_Mutation_p.I65V			P55058	PLTP_HUMAN	phospholipid transfer protein	65					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	p.I65V(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TACTCAGAGATGTTGTAGTAG	0.637000													3	133					0	0	0.004672	0	0
BUB1B	701	broad.mit.edu	37	15	40505533	40505533	+	Splice_Site	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:40505533G>A	ENST00000287598.6	+	20	2731	c.2535_splice	c.e20-1	p.D846_splice	BUB1B_ENST00000412359.3_Splice_Site_p.D860_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	846	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.D846N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAATTTCCAGGATCTTCTCCA	0.348000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				32	59					0	0	0.003271	0	0
INHBE	83729	broad.mit.edu	37	12	57850041	57850041	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:57850041C>T	ENST00000266646.2	+	2	679	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	155					growth	extracellular region	growth factor activity|hormone activity	p.R155C(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCAAGGGTCCCGCACTCTCCT	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	152	238					0	0	0.014410	0	0
CDH11	1009	broad.mit.edu	37	16	65038649	65038649	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:65038649C>A	ENST00000394156.3	-	3	577	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.G42C|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G42F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTCCTTGCCCTTCTCATGG	0.662000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	18					0.00400662	0.00452539	0.004007	1	0
MRPS16	51021	broad.mit.edu	37	10	75011685	75011685	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:75011685G>C	ENST00000372945.3	-	2	320	c.110C>G	c.(109-111)gCt>gGt	p.A37G	MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Missense_Mutation_p.A37G|MRPS16_ENST00000416782.2_Missense_Mutation_p.A37G|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	37					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.A37G(1)		large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					CTTGTTGTGAGCAGCCACAAT	0.572000													4	28					0	0	0.007413	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482231	140482231	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:140482231C>G	ENST00000231130.2	+	1	1998	c.1998C>G	c.(1996-1998)ttC>ttG	p.F666L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		666	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F666L(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGGCTTCTCCCAGCCCT	0.697000													6	102					0	0	0.003080	0	0
TLN1	7094	broad.mit.edu	37	9	35707217	35707217	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:35707217C>T	ENST00000314888.9	-	37	5160	c.4807G>A	c.(4807-4809)Gcc>Acc	p.A1603T	TLN1_ENST00000540444.1_Missense_Mutation_p.A1603T|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1603	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.A1603T(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATTGTCTTGGCAGAGATCACA	0.642000													34	26					0	0	0.006999	0	0
THSD4	79875	broad.mit.edu	37	15	72020963	72020963	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:72020963G>T	ENST00000355327.3	+	9	1567	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	THSD4_ENST00000357769.4_Missense_Mutation_p.G118V|THSD4_ENST00000261862.6_Missense_Mutation_p.G478V|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	478						proteinaceous extracellular matrix	metalloendopeptidase activity	p.G478*(1)|p.G478E(1)|p.G478V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACGAGGGCGGAGGGACCATG	0.507000													8	184					3.09899e-07	3.67221e-07	0.004482	1	0
VGLL2	245806	broad.mit.edu	37	6	117589584	117589584	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:117589584G>A	ENST00000326274.5	+	2	511	c.321G>A	c.(319-321)ctG>ctA	p.L107L	VGLL2_ENST00000352536.3_Silent_p.L107L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	107					transcription, DNA-dependent	nucleus		p.L107L(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGGGCCCTGAGCCAACCCA	0.597000													6	47					0	0	0.001984	0	0
JMJD1C	221037	broad.mit.edu	37	10	64944420	64944420	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr10:64944420C>G	ENST00000399262.2	-	21	7127	c.6909G>C	c.(6907-6909)ttG>ttC	p.L2303F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L2066F|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L2121F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2303	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.L2066F(1)|p.L2303F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAATCCTGGCAAATGAGAGG	0.373000													4	119					0	0	0.009096	0	0
SEPN1	57190	broad.mit.edu	37	1	26139275	26139275	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:26139275C>T	ENST00000361547.2	+	10	1434	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000374315.1_Missense_Mutation_p.S426F|SEPN1_ENST00000354177.4_Intron	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	460						endoplasmic reticulum membrane|extracellular region	protein binding	p.S460F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCAGTCCTGCTGAGGT	0.597000													11	20					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179417425	179417425	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:179417425C>G	ENST00000589042.1	-	335	90426	c.90202G>C	c.(90202-90204)Gaa>Caa	p.E30068Q	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28427Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21128Q|TTN_ENST00000342175.6_Missense_Mutation_p.E21195Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21003Q|TTN_ENST00000342992.6_Missense_Mutation_p.E27500Q|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28427	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E27500Q(1)|p.E27498Q(1)|p.E21003Q(1)|p.E21128Q(1)|p.E21195Q(1)		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)			CCTTTCCTTTCTACAACATAT	0.448000													4	112					0	0	0.009096	0	0
VIP	7432	broad.mit.edu	37	6	153076459	153076459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:153076459C>T	ENST00000367244.3	+	4	458	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	VIP_ENST00000367243.3_Nonsense_Mutation_p.Q96*	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	96				QL -> PP (in Ref. 8; AAA61286).	body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	p.Q96*(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACTCTTGGGTCAACTTTCTGC	0.318000													6	53					0	0	0.004482	0	0
ZNF781	163115	broad.mit.edu	37	19	38160502	38160502	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:38160502A>C	ENST00000358582.4	-	4	1296	c.548T>G	c.(547-549)aTa>aGa	p.I183R	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.I183R	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I183R(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTGAGCAATTATTGAATGCTT	0.378000													22	103					0	0	0.002780	0	0
GABRA2	2555	broad.mit.edu	37	4	46307713	46307713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:46307713G>T	ENST00000510861.1	-	7	748	c.575C>A	c.(574-576)tCa>tAa	p.S192*	GABRA2_ENST00000540012.1_Nonsense_Mutation_p.S137*|GABRA2_ENST00000381620.4_Nonsense_Mutation_p.S192*|GABRA2_ENST00000356504.1_Nonsense_Mutation_p.S192*|GABRA2_ENST00000507069.1_Nonsense_Mutation_p.S192*|GABRA2_ENST00000515082.1_Nonsense_Mutation_p.S192*|GABRA2_ENST00000514090.1_Nonsense_Mutation_p.S192*			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	192					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	p.S192*(1)		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)	AGTGACCTCTGAAGTTGTATA	0.363000													33	41					4.3181e-19	5.30066e-19	0.013726	1	0
PDE1B	5153	broad.mit.edu	37	12	54968907	54968907	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:54968907C>G	ENST00000243052.3	+	11	1526	c.1090C>G	c.(1090-1092)Cta>Gta	p.L364V	PDE1B_ENST00000550620.1_Missense_Mutation_p.L344V|PDE1B_ENST00000538346.1_Missense_Mutation_p.L323V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	364	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L364V(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGCCCTGTCTCTACTGCTCCA	0.542000													5	135					0	0	0.001168	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6889985	6889985	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr18:6889985C>T	ENST00000419673.2	+	12	1375	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ARHGAP28_ENST00000532996.1_Silent_p.F368F|ARHGAP28_ENST00000400091.2_Silent_p.F545F|ARHGAP28_ENST00000383472.4_Silent_p.F545F|ARHGAP28_ENST00000262227.3_Silent_p.F493F|ARHGAP28_ENST00000531294.1_Silent_p.F381F|ARHGAP28_ENST00000314319.3_Silent_p.F386F|ARHGAP28_ENST00000418986.1_Silent_p.F386F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	368					signal transduction	intracellular		p.F545F(1)|p.F386F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACCTTTTCTTCAGTAGAAGCA	0.408000													7	157					0	0	0.003080	0	0
APPBP2	10513	broad.mit.edu	37	17	58571968	58571968	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:58571968G>A	ENST00000083182.3	-	3	525	c.238C>T	c.(238-240)Cat>Tat	p.H80Y		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	80					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.H80Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AAACAATGATGAAGCAAATGT	0.338000													4	111					0	0	0.009096	0	0
MYO6	4646	broad.mit.edu	37	6	76551060	76551060	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:76551060G>A	ENST00000369981.3	+	9	1060	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	MYO6_ENST00000369985.4_Missense_Mutation_p.E261K|MYO6_ENST00000369977.3_Missense_Mutation_p.E261K|MYO6_ENST00000369975.1_Missense_Mutation_p.E261K			Q9UM54	MYO6_HUMAN	myosin VI	261	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.E261K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGATATTAGAGAAAAACTTCA	0.378000													5	60					0	0	0.000602	0	0
YEATS2	55689	broad.mit.edu	37	3	183508768	183508768	+	Splice_Site	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:183508768G>A	ENST00000305135.5	+	21	3292	c.3097_splice	c.e21+1	p.G1033_splice		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1033					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G1033R(1)|p.G1033*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAGTATCCGGTGAGTTGCA	0.527000													30	75					0	0	0.006999	0	0
CDH11	1009	broad.mit.edu	37	16	65038648	65038648	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:65038648C>A	ENST00000394156.3	-	3	578	c.125G>T	c.(124-126)gGc>gTc	p.G42V	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.G42V|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G42F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCCTCCTTGCCCTTCTCATG	0.667000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	18					0.00400662	0.00452539	0.004007	1	0
TTC24	164118	broad.mit.edu	37	1	156555560	156555560	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:156555560C>T	ENST00000368236.3	+	9	1548	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	TTC24_ENST00000368237.3_Silent_p.P504P|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	504							binding	p.P504P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTAGTTGCCCCACGTTTACCA	0.527000													5	208					0	0	0.000602	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470151	161470151	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:161470151T>G	ENST00000392142.4	+	3	995	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.F283V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.F283V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.F283V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	283					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.F283V(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCAGGACTTCTTTTTATATAC	0.433000													7	76					0	0	0.004482	0	0
UBE2O	63893	broad.mit.edu	37	17	74392500	74392500	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:74392500G>C	ENST00000319380.7	-	14	2582	c.2518C>G	c.(2518-2520)Ccg>Gcg	p.P840A		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	840							ATP binding|ubiquitin-protein ligase activity	p.P840A(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCCACAGTCGGAGAGGTGGGC	0.547000													4	178					0	0	0.001168	0	0
CASP9	842	broad.mit.edu	37	1	15819510	15819510	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:15819510C>T	ENST00000333868.5	-	9	1273	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	CASP9_ENST00000546424.1_3'UTR|CASP9_ENST00000348549.5_Silent_p.V243V|CASP9_ENST00000375890.4_Silent_p.V310V	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	393					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.V393V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AAATCCCTTTCACCGAAACAG	0.458000													65	130					0	0	0.014410	0	0
OR13C9	286362	broad.mit.edu	37	9	107379953	107379953	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:107379953G>A	ENST00000259362.1	-	1	532	c.533C>T	c.(532-534)tCa>tTa	p.S178L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S178L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AATTTCACATGAGAAATGATT	0.438000													5	141					0	0	0.000602	0	0
EXOC2	55770	broad.mit.edu	37	6	637753	637753	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:637753C>T	ENST00000230449.4	-	2	201	c.66G>A	c.(64-66)acG>acA	p.T22T	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	22	IPT/TIG.				exocytosis|protein transport			p.T22T(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGACCTTCGTCCATGGTA	0.532000													6	231					0	0	0.001984	0	0
OXSM	54995	broad.mit.edu	37	3	25833286	25833286	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:25833286G>C	ENST00000280701.3	+	2	874	c.775G>C	c.(775-777)Gat>Cat	p.D259H	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	259					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.D259H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAAACTCAGATCCCAAGTT	0.483000													9	122					0	0	0.006214	0	0
MIEF1	54471	broad.mit.edu	37	22	39910294	39910294	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:39910294C>G	ENST00000325301.2	+	6	1782	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	SMCR7L_ENST00000404569.1_Nonsense_Mutation_p.S453*|SMCR7L_ENST00000402881.1_Intron	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		453						integral to membrane|mitochondrion		p.S453*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CTGTATTGCTCATTGTCTGAG	0.532000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	152					0	0	0.000602	0	0
SENP1	29843	broad.mit.edu	37	12	48483038	48483038	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:48483038T>C	ENST00000339976.6	-	5	737	c.355A>G	c.(355-357)Aaa>Gaa	p.K119E	SENP1_ENST00000551330.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000004980.5_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549595.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	0	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GTCAACATTTTACCCCAACTA	0.483000													36	50					0	0	0.004289	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220386243	220386243	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:220386243T>A	ENST00000358951.2	-	4	488	c.372A>T	c.(370-372)ttA>ttT	p.L124F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	124					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.L124F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTCGACATTTAAGGAACCAC	0.303000													45	41					0	0	0.014410	0	0
LCMT2	9836	broad.mit.edu	37	15	43622436	43622436	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:43622436C>G	ENST00000305641.5	-	1	367	c.252G>C	c.(250-252)caG>caC	p.Q84H	LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	84					tRNA processing		methyltransferase activity|protein binding	p.Q84H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGACAAGATCTGCGCGCGAA	0.647000													4	50					0	0	0.000602	0	0
CENPJ	55835	broad.mit.edu	37	13	25480067	25480067	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:25480067G>C	ENST00000381884.4	-	7	2294	c.2109C>G	c.(2107-2109)agC>agG	p.S703R	CENPJ_ENST00000545981.1_Missense_Mutation_p.S703R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	703					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	p.S703R(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGAGTCAGTGCTACTGTCAC	0.463000													4	118					0	0	0.000602	0	0
CHRNB2	1141	broad.mit.edu	37	1	154548343	154548343	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:154548343C>G	ENST00000368476.3	+	6	1708	c.1444C>G	c.(1444-1446)Ctc>Gtc	p.L482V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	482					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.L482V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCTGCAGCCTCTCTTCCAGAA	0.562000													4	204					0	0	0.001168	0	0
OR8H2	390151	broad.mit.edu	37	11	55873052	55873052	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:55873052C>T	ENST00000313503.1	+	1	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F178F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATCACTTTTTCTGTGACACTT	0.418000										HNSCC(53;0.14)			37	294					0	0	0.009718	0	0
PARP15	165631	broad.mit.edu	37	3	122335957	122335957	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:122335957G>A	ENST00000483793.1	+	4	608	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PARP15_ENST00000310366.4_Missense_Mutation_p.E82K|PARP15_ENST00000464300.2_Missense_Mutation_p.E316K|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.E82K			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	365	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.E316K(1)|p.E82K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TATAGCCACTGAACAGGTAGA	0.353000													6	203					0	0	0.001984	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634681	156634681	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:156634681C>G	ENST00000296518.7	+	7	1727	c.1518C>G	c.(1516-1518)ctC>ctG	p.L506L	GUCY1A3_ENST00000511108.1_Silent_p.L506L|GUCY1A3_ENST00000511507.1_Silent_p.L506L|GUCY1A3_ENST00000455639.2_Silent_p.L506L|GUCY1A3_ENST00000513574.1_Silent_p.L506L|GUCY1A3_ENST00000506455.1_Silent_p.L506L|GUCY1A3_ENST00000393832.3_Silent_p.L248L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	506	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L506L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCACCATGCTCAATGCACTGT	0.502000													4	52					0	0	0.000602	0	0
CRKL	1399	broad.mit.edu	37	22	21288146	21288146	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:21288146C>G	ENST00000354336.3	+	2	900	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	131	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	p.L131V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TGTACGGACTCTGTATGATTT	0.463000													23	161					0	0	0.002780	0	0
PI4KA	5297	broad.mit.edu	37	22	21174157	21174157	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr22:21174157C>G	ENST00000255882.6	-	6	647	c.561G>C	c.(559-561)ctG>ctC	p.L187L	PI4KA_ENST00000572273.1_Silent_p.L129L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	129					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.L129L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGATTCCTATCAGGCATGGGA	0.428000													4	207					0	0	0.001168	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr7:157387990C>T	ENST00000389413.3	-	16	2452	c.2349G>A	c.(2347-2349)agG>agA	p.R783R	PTPRN2_ENST00000409483.1_Silent_p.R774R|PTPRN2_ENST00000389416.4_Silent_p.R795R|PTPRN2_ENST00000389418.4_Silent_p.R812R|PTPRN2_ENST00000404321.2_Silent_p.R835R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	812	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R812R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532000													6	91					0	0	0.001984	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450167	54450167	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:54450167C>T	ENST00000566473.2	+	6	771	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ANKFN1_ENST00000318698.2_Silent_p.L257L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	257								p.L257L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGTATCGGCTCTACAGACGCA	0.483000													19	124					0	0	0.002780	0	0
ACER3	55331	broad.mit.edu	37	11	76637694	76637694	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:76637694C>T	ENST00000532485.1	+	2	301	c.197C>T	c.(196-198)tCt>tTt	p.S66F	ACER3_ENST00000538157.1_Missense_Mutation_p.S24F|ACER3_ENST00000533873.1_Intron|ACER3_ENST00000526597.1_5'UTR|ACER3_ENST00000530182.1_3'UTR	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	66					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	p.S66F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACATTGCTTCTTATTTAGCA	0.378000													12	65					0	0	0.002450	0	0
NLRC5	84166	broad.mit.edu	37	16	57085490	57085490	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:57085490C>T	ENST00000436936.1	+	24	3688	c.3463C>T	c.(3463-3465)Cta>Tta	p.L1155L	NLRC5_ENST00000539144.1_Silent_p.L1155L|NLRC5_ENST00000262510.6_Silent_p.L1155L|NLRC5_ENST00000308149.7_Silent_p.L1155L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1155					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTGGAGACTCTACTGGACTG	0.532000													16	798					0	0	0.007413	0	0
IQSEC1	9922	broad.mit.edu	37	3	12961967	12961967	+	Silent	SNP	C	C	G	rs146107147	byFrequency	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:12961967C>G	ENST00000273221.4	-	6	2241	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	675	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	p.R675R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTCATTTTCCGCTCGGGCT	0.582000													6	180					0	0	0.001168	0	0
ACTR6	64431	broad.mit.edu	37	12	100606231	100606231	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr12:100606231G>A	ENST00000188312.2	+	8	1440	c.675G>A	c.(673-675)ttG>ttA	p.L225L	ACTR6_ENST00000551617.1_Silent_p.L143L|ACTR6_ENST00000552376.1_Silent_p.L225L|ACTR6_ENST00000546902.1_Silent_p.L143L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	225						cytoplasm|cytoskeleton		p.L225L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTTCCAGGTTGAAAGGAGAAG	0.299000													4	119					0	0	0.009096	0	0
CENPF	1063	broad.mit.edu	37	1	214802433	214802433	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:214802433G>C	ENST00000366955.3	+	8	1281	c.1113G>C	c.(1111-1113)ttG>ttC	p.L371F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	371	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L371F(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGGAAGATTTGAGTTGTCAGC	0.308000													3	121					0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	215					0	0	0.001168	0	0
ZNF597	146434	broad.mit.edu	37	16	3486852	3486852	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:3486852G>C	ENST00000301744.4	-	4	1082	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L283V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GGCAAAGCAAGATTTGGTTTC	0.453000													4	231					0	0	0.009096	0	0
LMX1B	4010	broad.mit.edu	37	9	129453345	129453345	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:129453345C>G	ENST00000355497.5	+	3	564	c.557C>G	c.(556-558)tCc>tGc	p.S186C	LMX1B_ENST00000526117.1_Missense_Mutation_p.S186C|LMX1B_ENST00000373474.4_Missense_Mutation_p.S186C|LMX1B_ENST00000561065.1_Missense_Mutation_p.S163C|LMX1B_ENST00000425646.2_Missense_Mutation_p.S163C	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	163					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S186C(1)|p.S163C(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAGTCCGACTCCGGTGAGGCC	0.667000									Nail-Patella Syndrome				4	23					0	0	0.009096	0	0
TGFBR1	7046	broad.mit.edu	37	9	101908883	101908883	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr9:101908883C>T	ENST00000374994.4	+	7	1364	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	TGFBR1_ENST00000552516.1_Missense_Mutation_p.S420F|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S339F|TGFBR1_ENST00000550253.1_Missense_Mutation_p.S347F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	416	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.S416F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CGACGATGTTCCATTGGTGGT	0.373000													12	376					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179432168	179432168	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:179432168C>T	ENST00000589042.1	-	326	78915	c.78691G>A	c.(78691-78693)Gat>Aat	p.D26231N	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24590N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17291N|TTN_ENST00000342175.6_Missense_Mutation_p.D17358N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17166N|TTN_ENST00000342992.6_Missense_Mutation_p.D23663N|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24590	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D17358N(1)|p.D23661N(1)|p.D17291N(1)|p.D17166N(1)|p.D23663N(1)		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)			ATTTCCTTATCTCCTCTTAAC	0.378000													4	141					0	0	0.009096	0	0
CRYGB	1419	broad.mit.edu	37	2	209007437	209007437	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:209007437C>T	ENST00000260988.4	-	3	500	c.453G>A	c.(451-453)gaG>gaA	p.E151E		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	151	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens	p.E151E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		ACCTCCTGTACTCCCCCGGCC	0.502000													28	166					0	0	0.009535	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603931	140603931	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:140603931C>T	ENST00000239449.4	+	1	854	c.854C>T	c.(853-855)tCa>tTa	p.S285L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S132L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		285	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S285L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCATGCATCAGAAGATATT	0.393000													34	64					0	0	0.012213	0	0
MTR	4548	broad.mit.edu	37	1	237049656	237049656	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:237049656A>C	ENST00000366577.5	+	27	3234	c.2840A>C	c.(2839-2841)gAa>gCa	p.E947A	MTR_ENST00000535889.1_Missense_Mutation_p.E896A	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	947	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.E947A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGCTGTCTGAACCTCACCCA	0.413000													20	77					0	0	0.012319	0	0
SCN9A	6335	broad.mit.edu	37	2	167168258	167168258	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:167168258C>T	ENST00000375387.4	-	2	349	c.9G>A	c.(7-9)atG>atA	p.M3I	SCN9A_ENST00000409672.1_Missense_Mutation_p.M3I|SCN9A_ENST00000409435.1_Missense_Mutation_p.M3I|SCN9A_ENST00000303354.6_Missense_Mutation_p.M3I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	3						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M3I(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGGGAGGCAACATTGCCATCT	0.418000													35	54					0	0	0.006230	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656137	40656137	+	Silent	SNP	G	G	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr2:40656137G>T	ENST00000406785.1	-	2	1473	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	SLC8A1_ENST00000542756.1_Silent_p.T428T|SLC8A1_ENST00000542024.1_Silent_p.T428T|SLC8A1_ENST00000408028.2_Silent_p.T428T|SLC8A1_ENST00000406391.2_Silent_p.T428T|SLC8A1_ENST00000405901.3_Silent_p.T428T|SLC8A1_ENST00000405269.1_Silent_p.T428T|SLC8A1_ENST00000403092.1_Silent_p.T428T|SLC8A1_ENST00000402441.1_Silent_p.T428T|SLC8A1_ENST00000332839.4_Silent_p.T428T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	428	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T428T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCGGATAATGGTAAGGGCCA	0.433000													5	91					3.59834e-05	4.17937e-05	0.001168	1	0
MYH1	4619	broad.mit.edu	37	17	10399410	10399410	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:10399410C>A	ENST00000226207.5	-	35	5120	c.5026G>T	c.(5026-5028)Gct>Tct	p.A1676S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1676						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1676S(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCACCATAGCCAGCTGTTCC	0.572000													28	67					1.17739e-12	1.42399e-12	0.005443	1	0
ZNF91	7644	broad.mit.edu	37	19	23542873	23542873	+	Missense_Mutation	SNP	C	C	G	rs1816638		TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:23542873C>G	ENST00000300619.7	-	4	3113	c.2908G>C	c.(2908-2910)Gaa>Caa	p.E970Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E938Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	970						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E970Q(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTCACATTTG	0.368000													5	138					0	0	0.001168	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017808	170017808	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:170017808C>G	ENST00000284637.9	-	12	2870	c.2529G>C	c.(2527-2529)caG>caC	p.Q843H		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	843	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.Q843H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGCCTCACTCTGAGGAGGAT	0.393000													3	103					0	0	0.004672	0	0
AZI2	64343	broad.mit.edu	37	3	28379446	28379446	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr3:28379446C>G	ENST00000479665.1	-	4	952	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.E141Q|AZI2_ENST00000457172.1_Missense_Mutation_p.E141Q|AZI2_ENST00000420543.2_Missense_Mutation_p.E141Q	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	141						mitochondrion|plasma membrane		p.E141Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTTTCCACCTCTGTCCTCAGC	0.328000													3	58					0	0	0.009096	0	0
KLF12	11278	broad.mit.edu	37	13	74387368	74387368	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:74387368C>T	ENST00000377669.2	-	4	753	c.727G>A	c.(727-729)Gat>Aat	p.D243N	KLF12_ENST00000377666.4_Missense_Mutation_p.D243N|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	243					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.D243N(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGCAGGTCATCATCATCACTG	0.438000													6	141					0	0	0.001984	0	0
FGD2	221472	broad.mit.edu	37	6	36993601	36993601	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:36993601G>A	ENST00000274963.8	+	14	1663	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E498K(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTACCGGGCCGAACTGAAATA	0.622000													5	73					0	0	0.000602	0	0
SMAD5	4090	broad.mit.edu	37	5	135496714	135496714	+	Silent	SNP	C	C	T			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:135496714C>T	ENST00000545279.1	+	4	933	c.573C>T	c.(571-573)agC>agT	p.S191S	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Silent_p.S191S	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	191					BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.S191S(1)		central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCAAACAGCCCTTATCCCC	0.483000													78	166					0	0	0.014410	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617448	70617448	+	Silent	SNP	G	G	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:70617448G>A	ENST00000260126.3	-	6	2146	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	SLCO5A1_ENST00000524945.1_Silent_p.P480P|SLCO5A1_ENST00000530307.1_Silent_p.P425P	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	480						integral to membrane|plasma membrane	transporter activity	p.P480P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCAGCACTGGGGACGATAA	0.408000													4	85					0	0	0.009096	0	0
RBM27	54439	broad.mit.edu	37	5	145631429	145631429	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr5:145631429C>G	ENST00000265271.5	+	9	1601	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	479					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.L479V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTACCCCTCTGGTTCCAGG	0.552000													6	297					0	0	0.001984	0	0
FAM83H	286077	broad.mit.edu	37	8	144812586	144812586	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr8:144812586A>C	ENST00000388913.3	-	2	292	c.167T>G	c.(166-168)cTg>cGg	p.L56R		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	56					biomineral tissue development			p.L56R(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCAGGGCACAGGAAGTCTGG	0.617000													26	115					0	0	0.005443	0	0
SKA3	221150	broad.mit.edu	37	13	21742491	21742491	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr13:21742491C>G	ENST00000314759.5	-	4	503	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	SKA3_ENST00000400018.3_Missense_Mutation_p.E127Q	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	127					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.E127Q(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAAAATTTTCACAATTAGAC	0.393000													3	115					0	0	0.009096	0	0
GSTA3	2940	broad.mit.edu	37	6	52764737	52764737	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:52764737C>G	ENST00000211122.3	-	5	474	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	GSTA3_ENST00000370968.1_Missense_Mutation_p.E87Q	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	137	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.E137Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCTACTTTTTCGAAGGCAGGG	0.448000													8	450					0	0	0.003080	0	0
NSUN4	387338	broad.mit.edu	37	1	46827467	46827467	+	Silent	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:46827467C>G	ENST00000474844.1	+	6	1754	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	NSUN4_ENST00000537428.1_Silent_p.L319L|NSUN4_ENST00000536062.1_Silent_p.L319L|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	368							methyltransferase activity	p.L368L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TACCAAACCTCATGGCCAATT	0.453000													19	80					0	0	0.007413	0	0
C17orf53	78995	broad.mit.edu	37	17	42225308	42225308	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr17:42225308C>G	ENST00000319977.4	+	3	374	c.137C>G	c.(136-138)tCt>tGt	p.S46C	C17orf53_ENST00000585683.1_Missense_Mutation_p.S46C|C17orf53_ENST00000245382.6_Missense_Mutation_p.S46C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	46								p.S46C(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGACCTGTCTCTTCTAGGCCA	0.572000													4	106					0	0	0.000602	0	0
AHNAK	79026	broad.mit.edu	37	11	62292702	62292702	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr11:62292702G>C	ENST00000378024.4	-	5	9461	c.9187C>G	c.(9187-9189)Cca>Gca	p.P3063A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3063					nervous system development	nucleus	protein binding	p.P3063A(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCACATCTGGAACATCAATG	0.498000													6	342					0	0	0.001168	0	0
AGER	177	broad.mit.edu	37	6	32150773	32150773	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr6:32150773C>G	ENST00000375076.4	-	6	637	c.536G>C	c.(535-537)aGa>aCa	p.R179T	AGER_ENST00000375055.2_Missense_Mutation_p.R179T|AGER_ENST00000438221.2_Missense_Mutation_p.R195T|AGER_ENST00000375065.5_Intron|AGER_ENST00000375067.3_Missense_Mutation_p.R165T|AGER_ENST00000375069.3_Missense_Mutation_p.R78T|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.R210T	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	179	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	p.R179T(1)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CTCAGGGTGTCTCCTGGTCTG	0.572000													19	88					0	0	0.008871	0	0
SYT11	23208	broad.mit.edu	37	1	155851017	155851018	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:155851017_155851018delCG	ENST00000368324.4	+	4	1267_1268	c.1014_1015delCG	c.(1012-1017)tagcfs	p.YG338fs	SYT11_ENST00000539162.1_Frame_Shift_Del_p.YG31fs	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	338	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ACGTCTACTACGGCAGAAAGCG	0.455													10	765	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156646400	156646403	+	Frame_Shift_Del	DEL	GCGG	GCGG	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr1:156646400_156646403delGCGG	ENST00000368223.3	-	1	786_789	c.654_657delCCGC	c.(652-657)gcfs	p.AR218fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	218	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCGGCCCTCGCGGGCACCCTGCA	0.755													6	12	---	---	---	---					
SH3D19	152503	broad.mit.edu	37	4	152096011	152096011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr4:152096011delG	ENST00000409598.4	-	7	1672	c.505delC	c.(505-507)gafs	p.R169fs	SH3D19_ENST00000427414.2_Frame_Shift_Del_p.R169fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.R169fs|SH3D19_ENST00000409252.2_Frame_Shift_Del_p.R169fs|SH3D19_ENST00000455740.1_Frame_Shift_Del_p.R169fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.R169fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.R169fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	169	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	p.R166R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTGCGAGTCGGGGAGGAACA	0.582													179	321	---	---	---	---					
RP11-1129I3.1	0	broad.mit.edu	37	15	56852471	56852472	+	RNA	INS	-	-	C			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr15:56852471_56852472insC	ENST00000562300.1	-	0	439																											tttctttcttttttttttcttt	0.446													2	4	---	---	---	---					
POLR2C	5432	broad.mit.edu	37	16	57503120	57503121	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr16:57503120_57503121insA	ENST00000219252.5	+	5	640_641	c.302_303insA	c.(301-303)tacfs	p.Y101fs	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	101					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCGGTGGAGTTCACCCTCGATG	0.589													42	104	---	---	---	---					
DOT1L	84444	broad.mit.edu	37	19	2210737	2210737	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:2210737delG	ENST00000398665.3	+	14	1270	c.1234delG	c.(1234-1236)ggfs	p.G412fs		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	412	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CCGCAAGCGCGGGCGCCCCAA	0.607													16	113	---	---	---	---					
SIGLEC5	8778	broad.mit.edu	37	19	52130914	52130914	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr19:52130914delG	ENST00000222107.4	-	6	1221	c.1083delC	c.(1081-1083)ccfs	p.P361fs	SIGLEC5_ENST00000599649.1_Frame_Shift_Del_p.P361fs|SIGLEC5_ENST00000534261.2_Frame_Shift_Del_p.P361fs|SIGLEC5_ENST00000570106.2_Frame_Shift_Del_p.P361fs|SIGLEC5_ENST00000429354.3_Frame_Shift_Del_p.P361fs			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	361					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGCACAGGGAGGGGGCCGGCC	0.677													10	15	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21196122	21196122	+	RNA	DEL	A	A	-			TCGA-49-4486-01A-01D-1265-08	TCGA-49-4486-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ac132c3-4889-4dc3-8b3d-0ef98065a858	ee2aab05-2f1d-406d-834c-f1b011b7b6eb	g.chr20:21196122delA	ENST00000591761.1	-	0	119				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TACATTAACCAAAAAAAAAAA	0.244													2	4	---	---	---	---					
